Human Gene Module / Chromosome 2 / CUL3

CUL3Cullin 3

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
24 / 34
Rare Variants / Common Variants
52 / 1
EAGLE Score
18.4
Strong Learn More
Aliases
CUL3, CUL-3,  PHA2E
Associated Syndromes
-
Chromosome Band
2q36.2
Associated Disorders
ID, EPS
Genetic Category
Rare Single Gene Mutation, Genetic Association, Functional
Relevance to Autism

Two de novo loss-of-function (LoF) mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329). A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified CUL3 as a gene reaching exome-wide significance (P < 2.5E-06).

Molecular Function

This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation.

SFARI Genomic Platforms
Reports related to CUL3 (34 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics Bennett EJ , et al. (2010) No -
2 Primary Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations O'Roak BJ , et al. (2012) Yes -
3 Support Rate of de novo mutations and the importance of father's age to disease risk Kong A , et al. (2012) Yes -
4 Recent Recommendation Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases Canning P , et al. (2013) No -
5 Recent Recommendation Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4 Shibata S , et al. (2013) No -
6 Recent Recommendation Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
7 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) No -
8 Support Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders Codina-Sol M , et al. (2015) Yes -
9 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission Iossifov I , et al. (2015) Yes -
10 Recent Recommendation Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor McGourty CA , et al. (2016) No -
11 Support De novo genic mutations among a Chinese autism spectrum disorder cohort Wang T , et al. (2016) Yes -
12 Support The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Redin C , et al. (2016) No -
13 Support Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Stessman HA , et al. (2017) Yes -
14 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
15 Positive Association Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection Pardias AF , et al. (2018) No -
16 Support Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model Guo H , et al. (2018) Yes -
17 Support Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort Callaghan DB , et al. (2019) Yes -
18 Support Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans Wong WR , et al. (2019) Yes -
19 Support Cul3 and insomniac are required for rapid ubiquitination of postsynaptic targets and retrograde homeostatic signaling Kikuma K , et al. (2019) No -
20 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
21 Support Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort da Silva Montenegro EM , et al. (2019) Yes -
22 Support De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms Nakashima M et al. (2020) No ID, epilepsy/seizures
23 Support Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes -
24 Support - Morandell J et al. (2021) Yes -
25 Support - Mahjani B et al. (2021) Yes -
26 Support - Li D et al. (2022) Yes -
27 Support - Zhou X et al. (2022) Yes -
28 Support - Rapanelli M et al. (2023) Yes -
29 Support - Vincent KM et al. (2023) No -
30 Recent Recommendation - Weinschutz Mendes H et al. (2023) Yes -
31 Support - Qian M et al. (2023) Yes -
32 Support - Xia QQ et al. (2023) Yes -
33 Support - Cirnigliaro M et al. (2023) Yes -
34 Support - Gao N et al. (2023) Yes -
Rare Variants   (52)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - translocation De novo - - 27841880 Redin C , et al. (2016)
c.571G>T p.Glu191Ter stop_gained Unknown - - 34968013 Li D et al. (2022)
c.614C>G p.Ser205Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.757C>T p.Arg253Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.1008+1G>T - splice_site_variant De novo - - 33004838 Wang T et al. (2020)
c.1654C>T p.Arg552Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.1550C>G p.Ser517Ter stop_gained De novo - - 35982159 Zhou X et al. (2022)
c.1636C>T p.Arg546Ter stop_gained De novo - - 22914163 Kong A , et al. (2012)
c.379-2A>G - splice_site_variant De novo - - 36710200 Vincent KM et al. (2023)
c.1669C>A p.Pro557Thr missense_variant Unknown - - 34968013 Li D et al. (2022)
c.185G>A p.Arg62His missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.245G>A p.Arg82Gln missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.190A>G p.Met64Val missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.320T>C p.Phe107Ser missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.475C>T p.Arg159Cys missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1327G>A p.Ala443Thr missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1802C>T p.Ser601Phe missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.2110G>A p.Asp704Asn missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1661T>C p.Leu554Pro missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.2281C>T p.Arg761Cys missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.67-22145del - frameshift_variant De novo - - 32341456 Nakashima M et al. (2020)
c.2065A>T p.Lys689Ter stop_gained De novo - Simplex 37026922 Qian M et al. (2023)
T>C p.? splice_site_variant Familial - Multiplex 28263302 C Yuen RK et al. (2017)
c.793G>T p.Glu265Ter splice_site_variant De novo - - 27824329 Wang T , et al. (2016)
c.1046A>G p.Gln349Arg missense_variant Unknown - - 34615535 Mahjani B et al. (2021)
c.854T>C p.Val285Ala missense_variant De novo - - 32341456 Nakashima M et al. (2020)
c.736G>T p.Glu246Ter stop_gained De novo - Simplex 22495309 O'Roak BJ , et al. (2012)
c.1961C>T p.Pro654Leu missense_variant De novo - Simplex 30564305 Guo H , et al. (2018)
c.541C>T p.Arg181Ter stop_gained Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1644+2T>C - splice_site_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.67-22109A>G - missense_variant Unknown - Simplex 31038196 Callaghan DB , et al. (2019)
c.521del p.Met174ArgfsTer11 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.917del p.Gly306ValfsTer25 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.1595dup p.Ala533SerfsTer7 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1443C>T p.Asn481%3D synonymous_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.46G>T p.Asp16Tyr missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.235_238del p.Ile79PhefsTer23 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.342_343del p.Gly115ArgfsTer21 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.830A>G p.Lys277Arg missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.964C>G p.Leu322Val missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1351_1354del p.Ser451ProfsTer23 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.2028_2029del p.His676GlnfsTer13 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.832-2A>G - splice_site_variant Familial Paternal Multiplex 31398340 Ruzzo EK , et al. (2019)
c.1239del p.Asp413GlufsTer42 frameshift_variant De novo - - 32341456 Nakashima M et al. (2020)
c.2156A>G p.His719Arg missense_variant De novo - Simplex 25969726 Codina-Sol M , et al. (2015)
c.398C>G p.Ser133Ter stop_gained De novo - Simplex 31696658 da Silva Montenegro EM , et al. (2019)
c.50T>G p.Val17Gly missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.392_395del p.Gly131AspfsTer28 frameshift_variant Unknown - Simplex 28263302 C Yuen RK et al. (2017)
c.171_179delinsCGAAG p.Met58GlufsTer20 frameshift_variant De novo - Simplex 28191889 Stessman HA , et al. (2017)
c.713_714insGT p.Lys241Ter frameshift_variant Familial Maternal Multiplex 37506195 Cirnigliaro M et al. (2023)
c.531C>A p.Val177= synonymous_variant De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014)
c.2004del p.Leu669TyrfsTer33 frameshift_variant De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014)
Common Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.180+8949G>T;c.396+8949G>T;c.378+8949G>T;c.-186+8949G>T;c.345+8949G>T;c.232-11807G>T;c.336+8949G>T; - intron_variant - - - 29483656 Pardias AF , et al. (2018)
SFARI Gene score
1

High Confidence

Score Delta: Score remained at 1

1

High Confidence

See all Category 1 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2021
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

10/1/2020
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

4/1/2020
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

10/1/2019
1
icon
1

Score remained at 1

New Scoring Scheme
Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

7/1/2019
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

4/1/2019
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

1/1/2019
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

10/1/2018
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) were reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).

4/1/2017
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.

1/1/2017
1
icon
1

Score remained at 1

Description

2 de novo LoF mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.

10/1/2016
2
icon
1

Decreased from 2 to 1

Description

2 de novo LoF mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). A third de novo LoF variant in CUL3 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.

1/1/2016
2
icon
2

Decreased from 2 to 2

Description

2 de novo LoF mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

4/1/2015
2
icon
2

Decreased from 2 to 2

Description

2 de novo LoF mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

1/1/2015
2
icon
2

Decreased from 2 to 2

Description

2 de novo LGD mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

10/1/2014
3
icon
2

Decreased from 3 to 2

Description

2 de novo LGD mutations (both nonsense variants) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified CUL3 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

7/1/2014
No data
icon
3

Increased from No data to 3

Description

2 de novo LGD mutations (both nonsense variant) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163)

4/1/2014
No data
icon
3

Increased from No data to 3

Description

2 de novo LGD mutations (both nonsense variant) reported in the CUL3 gene in unrelated ASD cases (PMIDs 22495309 and 22914163)

Krishnan Probability Score

Score 0.49653465388827

Ranking 2576/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.97406340543885

Ranking 2274/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Iossifov Probability Score

Score 0.901

Ranking 138/239 scored genes


[Show Scoring Methodology]
Supplementary dataset S2 in the paper by Iossifov et al. (PNAS 112, E5600-E5607 (2015)) lists 239 genes with a probability of at least 0.8 of being associated with autism risk (column I). This probability metric combines the evidence from de novo likely-gene- disrupting and missense mutations and assesses it against the background mutation rate in unaffected individuals from the University of Washington’s Exome Variant Sequence database (evs.gs.washington.edu/EVS/). The list of probability scores can be found here: www.pnas.org/lookup/suppl/doi:10.1073/pnas.1516376112/- /DCSupplemental/pnas.1516376112.sd02.xlsx
Sanders TADA Score

Score 0.0052620906397329

Ranking 25/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score

Score 30

Ranking 72/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.19041145895806

Ranking 4418/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
10-Sep septin 10 Human Protein Binding 151011 Q9P0V9
15-Sep selenophosphate synthetase 1 Human Protein Binding 22929 B4DWK0
AAR2 AAR2 splicing factor homolog (S. cerevisiae) Human Protein Binding 25980 Q9Y312
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 Human Protein Binding 154664 Q86UQ4
ABTB1 ankyrin repeat and BTB (POZ) domain containing 1 Human Protein Binding 80325 Q969K4
ACBD3 acyl-CoA binding domain containing 3 Human Protein Binding 64746 Q9H3P7
ACTA2 actin, alpha 2, smooth muscle, aorta Human Protein Binding 59 D2JYH4
ADD3 adducin 3 (gamma) Human Protein Binding 120 Q9UEY8
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Human Protein Binding 178 P35573
AGO1 argonaute RISC catalytic component 1 Human Protein Binding 26523 Q9UL18
AGO3 argonaute RISC catalytic component 3 Human Protein Binding 192669 B4E1P5
AHCY adenosylhomocysteinase Human Protein Binding 191 P23526
AIM1 absent in melanoma 1 Human Protein Binding 202 B3KPT0
AK2 adenylate kinase 2 Human Protein Binding 204 P54819
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) Human Protein Binding 217 P05091
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 Human Protein Binding 224 P51648
ALDOA aldolase A, fructose-bisphosphate Human Protein Binding 226 P04075
ALYREF Aly/REF export factor Human Protein Binding 10189 E9PB61
AMPD1 adenosine monophosphate deaminase 1 Human Protein Binding 270 P23109
ANKFY1 ankyrin repeat and FYVE domain containing 1 Human Protein Binding 51479 Q9P2R3
ANKRD26 ankyrin repeat domain 26 Human DNA Binding 22852 Q9UPS8
ANKRD39 ankyrin repeat domain 39 Human Protein Binding 51239 Q53RE8
AP1B1 adaptor-related protein complex 1, beta 1 subunit Human Protein Binding 162 Q10567
ARL1 ADP-ribosylation factor-like 1 Human Protein Binding 400 P40616
ARMC8 armadillo repeat containing 8 Human Protein Binding 25852 B7Z637
ASPH aspartate beta-hydroxylase Human Protein Binding 444 B4E2K4
ATAD3B ATPase family, AAA domain containing 3B Human Protein Binding 83858 Q5T9A4
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide Human Protein Binding 477 P50993
ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide Human Protein Binding 480 Q13733
AURKA aurora kinase A Human Protein Modification 6790 O14965
AURKAIP1 aurora kinase A interacting protein 1 Human Protein Binding 54998 Q9NWT8
BCDIN3D BCDIN3 domain containing Human Protein Binding 144233 Q7Z5W3
Bcl11b B cell leukemia/lymphoma 11B Mouse Protein Binding 58208 Q99PV8
BCLAF1 BCL2-associated transcription factor 1 Human Protein Binding 9774 Q9NYF8
BOLA2 bolA homolog 2 (E. coli) Human Protein Binding 552900 Q9H3K6
BOLA2B bolA homolog 2B (E. coli) Human Protein Binding 654483 Q9H3K6
BOP1 block of proliferation 1 Human Protein Binding 23246 Q14137
BPLF1 Deneddylase HHV-4 Protein Binding 3783726 P03186
BTBD10 BTB (POZ) domain containing 10 Human Protein Binding 84280 D3DQW7
btbd6a BTB (POZ) domain containing 6a Zebrafish Protein Binding 100141360 A9JRD8
BTBD7 BTB (POZ) domain containing 7 Human Protein Binding 55727 Q9P203
BTBD8 BTB (POZ) domain containing 8 Human Protein Binding 284697 Q5XKL5
C11orf57 chromosome 11 open reading frame 57 Human Protein Binding 55216 Q6ZUT1
C11orf70 chromosome 11 open reading frame 70 Human Protein Binding 85016 E9PJU1
C14orf166 chromosome 14 open reading frame 166 Human Protein Binding 51637 Q9Y224
C17orf85 chromosome 17 open reading frame 85 Human Protein Binding 55421 Q53F19
C8orf33 chromosome 8 open reading frame 33 Human Protein Binding 65265 Q9H7E9
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Human Protein Binding 790 P27708
CAMK1D calcium/calmodulin-dependent protein kinase ID Human Protein Binding 57118 Q5SQQ7
CAMK2G calcium/calmodulin-dependent protein kinase II gamma Human Protein Binding 818 Q13555
CASP8 caspase 8, apoptosis-related cysteine peptidase Human Protein Binding 841 Q14790
CCDC110 coiled-coil domain containing 110 Human Protein Binding 256309 Q8TBZ0
CCDC39 coiled-coil domain containing 39 Human Protein Binding 339829 Q9UFE4
CD2BP2 CD2 (cytoplasmic tail) binding protein 2 Human Protein Binding 10421 O95400
CDC25A cell division cycle 25A Human Protein Binding 993 P30304
CDC34 cell division cycle 34 Human Protein Binding 997 P49427
CDC45 cell division cycle 45 Human Protein Binding 8318 O75419
CDKNeuro2aIP CDKN2A interacting protein Human Protein Binding 55602 Q9NXV6
CKAP4 cytoskeleton-associated protein 4 Human Protein Binding 10970 Q07065
CKB creatine kinase, brain Human Protein Binding 1152 P12277
CKMT1A creatine kinase, mitochondrial 1A Human Protein Binding 548596 P12532
CKMT1B creatine kinase, mitochondrial 1B Human Protein Binding 1159 P12532
CLPB ClpB caseinolytic peptidase B homolog (E. coli) Human Protein Binding 81570 Q9H078
CLTCL1 clathrin, heavy chain-like 1 Human Protein Binding 8218 P53675
CNNM4 cyclin M4 Human Protein Binding 26504 Q6P4Q7
COMMD1 copper metabolism (Murr1) domain containing 1 Human Protein Binding 150684 Q8N668
COMMD8 COMM domain containing 8 Human Protein Binding 54951 Q9NX08
COPS2 COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) Human Protein Binding 9318 P61201
CPN2 carboxypeptidase N, polypeptide 2 Human Protein Binding 1370 P22792
CPNE7 copine VII Human Protein Binding 27132 Q9UBL6
CPOX coproporphyrinogen oxidase Human Protein Binding 1371 P36551
CSTB cystatin B (stefin B) Human Protein Binding 1476 P04080
CTPS1 CTP synthase 1 Human Protein Binding 1503 P17812
CUL4B cullin 4B Human Protein Binding 8450 Q13620
CWC15 CWC15 spliceosome-associated protein Human Protein Binding 51503 Q9P013
DARS aspartyl-tRNA synthetase Human Protein Binding 1615 P14868
DAZAP1 DAZ associated protein 1 Human Protein Binding 26528 Q96EP5
DCD dermcidin Human Protein Binding 117159 P81605
DCTN2 dynactin 2 (p50) Human Protein Binding 10540 Q13561
DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae) Human Protein Binding 55208 Q6PH85
DCUN1D3 DCN1, defective in cullin neddylation 1, domain containing 3 Human Protein Binding 123879 Q8IWE4
DCUN1D5 DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) Human Protein Binding 84259 Q9BTE7
DDIT3 DNA-damage-inducible transcript 3 Human Protein Binding 1649 P35638
DDX18 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 Human Protein Binding 8886 Q9NVP1
DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 Human Protein Binding 54514 Q9NQI0
DERL2 derlin 2 Human Protein Binding 51009 Q9GZP9
DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 Human Protein Binding 1659 Q14562
DIS3 DIS3 mitotic control homolog (S. cerevisiae) Human Protein Binding 22894 Q9Y2L1
DLGAP3 discs, large (Drosophila) homolog-associated protein 3 Human Protein Binding 58512 O95886
Dmap1 DNA methyltransferase 1-associated protein 1 Mouse Protein Binding 66233 B1AUK1
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 Human Protein Binding 23317 O75165
Dock2 dedicator of cyto-kinesis 2 Mouse Protein Binding 94176 Q6A0A3
DROSHA drosha, ribonuclease type III Human Protein Binding 29102 E7EMP9
DSP desmoplakin Human Protein Binding 1832 P15924
DUT deoxyuridine triphosphatase Human Protein Binding 1854 P33316
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 Human Protein Binding 1780 A4D1I7
DYNLT1 dynein, light chain, Tctex-type 1 Human Protein Binding 6993 P63172
DYRK4 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 Human Protein Binding 8798 Q9NR20
EEF1A2 eukaryotic translation elongation factor 1 alpha 2 Human Protein Binding 1917 Q05639
EFTUD2 elongation factor Tu GTP binding domain containing 2 Human Protein Binding 9343 B3KX19
EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 Human Protein Binding 5610 P19525
EIF2D eukaryotic translation initiation factor 2D Human Protein Binding 1939 P41214
EIF3C eukaryotic translation initiation factor 3, subunit C Human Protein Binding 8663 Q99613
EIF3CL eukaryotic translation initiation factor 3, subunit C-like Human Protein Binding 728689 B5ME19
EIF3G eukaryotic translation initiation factor 3, subunit G Human Protein Binding 8666 O75821
EIF3I eukaryotic translation initiation factor 3, subunit I Human Protein Binding 8668 Q13347
EIF4A3 eukaryotic translation initiation factor 4A3 Human Protein Binding 9775 P38919
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 Human Protein Modification 1978 Q13541
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 Human Protein Binding 1981 Q04637
EIF5A2 eukaryotic translation initiation factor 5A2 Human Protein Binding 56648 Q9GZV4
EIF6 eukaryotic translation initiation factor 6 Human Protein Binding 3692 P56537
ELC1 Elongin-C Baker's yeast Protein Binding 856061 Q03071
ENO2 enolase 2 (gamma, neuronal) Human Protein Binding 2026 P09104
EPPK1 epiplakin 1 Human Protein Binding 83481 P58107
ERAL1 Era G-protein-like 1 (E. coli) Human Protein Binding 26284 O75616
EXOSC10 exosome component 10 Human Protein Binding 5394 Q01780
EXOSC5 exosome component 5 Human Protein Binding 56915 Q9NQT4
EXOSC9 exosome component 9 Human Protein Binding 5393 Q06265
FAF2 Fas associated factor family member 2 Human Protein Binding 23197 Q96CS3
FAM103A1 family with sequence similarity 103, member A1 Human Protein Binding 83640 Q9BTL3
FAM120B family with sequence similarity 120B Human Protein Binding 84498 Q96EK7
FAM208B family with sequence similarity 208, member B Human Protein Binding 54906 Q5VWN6
FAM98A family with sequence similarity 98, member A Human Protein Binding 25940 I6L9E8
FANCI Fanconi anemia, complementation group I Human Protein Binding 55215 Q9NVI1
FARSA phenylalanyl-tRNA synthetase, alpha subunit Human Protein Binding 2193 Q6IBR2
FBL fibrillarin Human Protein Binding 2091 P22087
FBXO3 F-box protein 3 Human Protein Binding 26273 Q49AF1
FECH ferrochelatase Human Protein Binding 2235 P22830
FLOT2 flotillin 2 Human Protein Binding 2319 Q14254
FN3KRP fructosamine 3 kinase related protein Human Protein Binding 79672 Q9HA64
FOLR1 folate receptor 1 (adult) Human Protein Binding 2348 P15328
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli) Human Protein Binding 24140 B3KN91
FUCA1 fucosidase, alpha-L- 1, tissue Human Protein Binding 2517 P04066
FUCA2 fucosidase, alpha-L- 2, plasma Human Protein Binding 2519 Q9BTY2
FXR2 Fragile X retardation 2 Human Protein Binding 9513 P51116
GABARAPL1 GABA(A) receptor-associated protein like 1 Human Protein Binding 23710 Q9H0R8
GABARAPL2 GABA(A) receptor-associated protein-like 2 Human Protein Binding 11345 P60520
GALK1 galactokinase 1 Human Protein Binding 2584 P51570
GAN gigaxonin Human Protein Binding 8139 B3KTC3
GCAT glycine C-acetyltransferase Human Protein Binding 23464 O75600
GFPT2 glutamine-fructose-6-phosphate transaminase 2 Human Protein Binding 9945 O94808
GLIS3 GLIS family zinc finger 3 Human Protein Binding 169792 Q1PHJ8
GLMN glomulin, FKBP associated protein Human Protein Binding 11146 Q92990
GMPPA GDP-mannose pyrophosphorylase A Human Protein Binding 29926 Q96IJ6
GPATCH4 G patch domain containing 4 Human Protein Binding 54865 A8KAG1
GPN1 GPN-loop GTPase 1 Human Protein Binding 11321 B5MBZ5
GPS1 G protein pathway suppressor 1 Human Protein Binding 2873 Q13098
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 Human Protein Binding 84706 Q8TD30
GSTP1 glutathione S-transferase pi 1 Human Protein Binding 2950 P09211
GTF3C5 general transcription factor IIIC, polypeptide 5, 63kDa Human Protein Binding 9328 Q9Y5Q8
GVINP1 GTPase, very large interferon inducible pseudogene 1 Human Protein Binding 387751 Q7Z2Y8
H2AFY H2A histone family, member Y Human Protein Binding 9555 O75367
HAT1 histone acetyltransferase 1 Human Protein Binding 8520 O14929
Hist1h1d histone cluster 1, H1d Mouse Protein Binding 14957 P43277
Hist1h2ae histone cluster 1, H2ae Mouse Protein Binding 319166 B2RVF0
HIST1H4D histone cluster 1, H4d Human Protein Binding 8360 P62805
HIST1H4F histone cluster 1, H4f Human Protein Binding 8361 B2R4R0
HIST1H4I histone cluster 1, H4i Human Protein Binding 8294 B2R4R0
HIST1H4L histone cluster 1, H4l Human Protein Binding 8368 B2R4R0
HIST2H4A histone cluster 2, H4a Human Protein Binding 8370 B2R4R0
HIST2H4B histone cluster 2, H4b Human Protein Binding 554313 B2R4R0
HIST4H4 histone cluster 4, H4 Human Protein Binding 121504 B2R4R0
HLA-DMB major histocompatibility complex, class II, DM beta Human Protein Binding 3109 P28068
HLA-H major histocompatibility complex, class I, H (pseudogene) Human Protein Binding 3136 P01893
HMGB3P1 high mobility group box 3 pseudogene 1 Human Protein Binding 128872 N/A
HNRNPAB heterogeneous nuclear ribonucleoprotein A/B Human Protein Binding 3182 Q99729
HNRNPCL1 heterogeneous nuclear ribonucleoprotein C-like 1 Human Protein Binding 343069 O60812
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') Human Protein Binding 3188 P55795
HOOK3 hook homolog 3 (Drosophila) Human Protein Binding 84376 Q86VS8
HPRT1 hypoxanthine phosphoribosyltransferase 1 Human Protein Binding 3251 P00492
Hrh4 histamine receptor H4 Mouse Protein Binding 225192 Q91ZY2
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 Human Protein Binding 3028 Q99714
HSP90AA2 heat shock protein 90kDa alpha (cytosolic), class A member 2 Human Protein Binding 3324 Q14568
HSP90AB2P heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene Human Protein Binding 391634 Q58FF8
HSP90AB3P heat shock protein 90kDa alpha family class B member 3, pseudogene Human Protein Binding 3327 Q58FF7
HSPA1L heat shock 70kDa protein 1-like Human Protein Binding 3305 P34931
HSPB1 heat shock 27kDa protein 1 Human Protein Binding 3315 P04792
HTATSF1 HIV-1 Tat specific factor 1 Human Protein Binding 27336 O43719
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Human Protein Binding 10075 Q7Z6Z7
IFNAR1 interferon (alpha, beta and omega) receptor 1 Human DNA Binding 3454 P17181
IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2 Human Protein Binding 10644 Q9Y6M1
ILK integrin-linked kinase Human Protein Binding 3611 Q13418
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 Human Protein Binding 3615 P12268
inc Fruit Fly Protein Binding 31110 Q9W579
IPO5 importin 5 Human Protein Binding 3843 B3KWG6
IPO8 importin 8 Human Protein Binding 10526 O15397
IPP intracisternal A particle-promoted polypeptide Human Protein Binding 3652 A2A6V3
IRAK1 interleukin-1 receptor-associated kinase 1 Human Protein Binding 3654 P51617
IRS4 insulin receptor substrate 4 Human Protein Binding 8471 O14654
KAT5 K(lysine) acetyltransferase 5 Human Protein Binding 10524 Q92993
KBTBD13 kelch repeat and BTB (POZ) domain containing 13 Human Protein Modification 390594 C9JR72
KBTBD6 kelch repeat and BTB (POZ) domain containing 6 Human Protein Binding 89890 Q86V97
KBTBD7 kelch repeat and BTB (POZ) domain containing 7 Human Protein Binding 84078 Q8WVZ9
KCTD10 potassium channel tetramerisation domain containing 10 Human Protein Binding 83892 Q9H3F6
KCTD11 potassium channel tetramerisation domain containing 11 Human Protein Binding 147040 Q693B1
KCTD12 potassium channel tetramerisation domain containing 12 Human Protein Binding 115207 Q96CX2
KCTD13 potassium channel tetramerisation domain containing 13 Human Protein Binding 253980 Q8WZ19
KCTD18 potassium channel tetramerisation domain containing 18 Human Protein Binding 130535 Q6PI47
KCTD2 potassium channel tetramerisation domain containing 2 Human Protein Binding 23510 Q14681
KCTD21 potassium channel tetramerisation domain containing 21 Human Protein Binding 283219 Q4G0X4
KCTD6 potassium channel tetramerisation domain containing 6 Human Protein Binding 200845 Q8NC69
KCTD7 potassium channel tetramerisation domain containing 7 Human Protein Binding 154881 Q96MP8
KCTD9 potassium channel tetramerisation domain containing 9 Human Protein Binding 54793 Q7L273
KEL Kell blood group, metallo-endopeptidase Human Protein Binding 3792 P23276
KHSRP KH-type splicing regulatory protein Human Protein Binding 8570 Q92945
KIAA1967 KIAA1967 Human Protein Binding 57805 Q8N163
KIF13B kinesin family member 13B Human Protein Binding 23303 F8VPJ2
KLHDC5 kelch-like family member 42 Human Protein Binding 57542 B2RNT7
KLHL10 Kelch-like protein 10 Human Protein Binding 317719 Q6JEL2
KLHL11 kelch-like family member 11 Human Protein Binding 55175 Q9NVR0
KLHL12 kelch-like family member 12 Human Protein Binding 59349 Q53G59
KLHL13 kelch-like family member 13 Human Protein Binding 90293 Q96HC9
KLHL17 kelch-like family member 17 Human Protein Binding 339451 Q6TDP4
KLHL2 kelch-like family member 2 Human Protein Binding 11275 O95198
KLHL25 kelch-like family member 25 Human Protein Binding 64410 Q9H0H3
KLHL26 kelch-like family member 26 Human Protein Binding 55295 Q53HC5
KLHL3 kelch-like family member 3 Human Protein Binding 26249 Q9UH77
KLHL36 kelch-like family member 36 Human Protein Binding 79786 Q8N4N3
KLHL4 kelch-like family member 4 Human Protein Binding 56062 A5PKX1
KLHL41 kelch-like family member 41 Human Protein Binding 10324 O60662
KLHL5 kelch-like family member 5 Human Protein Binding 51088 G3XA92
KLHL7 kelch-like family member 7 Human Protein Binding 55975 A8K364
KNDC1 kinase non-catalytic C-lobe domain (KIND) containing 1 Human Protein Binding 85442 Q5U5J6
KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) Human Protein Binding 3838 P52292
KPNA3 karyopherin alpha 3 (importin alpha 4) Human Protein Binding 3839 O00505
KRT16 keratin 16 Human Protein Binding 3868 P08779
KRT24 keratin 24 Human Protein Binding 192666 Q2M2I5
KRT33B keratin 33B Human Protein Binding 3884 Q14525
KRT36 keratin 36 Human Protein Binding 8689 O76013
KRT4 keratin 4 Human Protein Binding 3851 B4DRS2
KRT6B keratin 6B Human Protein Binding 3854 P04259
KRT71 keratin 71 Human Protein Binding 112802 Q3SY84
KRT75 keratin 75 Human Protein Binding 9119 O95678
KRT76 keratin 76 Human Protein Binding 51350 Q01546
KRT84 keratin 84 Human Protein Binding 3890 Q9NSB2
KRT85 keratin 85 Human Protein Binding 3891 P78386
LARP1 La ribonucleoprotein domain family, member 1 Human Protein Binding 23367 Q6PKG0
LARP1B La ribonucleoprotein domain family, member 1B Human Protein Binding 55132 Q659C4
LARP4 La ribonucleoprotein domain family, member 4 Human Protein Binding 113251 Q6P4E2
LARP4B La ribonucleoprotein domain family, member 4B Human Protein Binding 23185 Q92615
LARS leucyl-tRNA synthetase Human Protein Binding 51520 Q9P2J5
LDHD lactate dehydrogenase D Human Protein Binding 197257 Q86WU2
LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 Human Protein Binding 64175 Q32P28
LLGL1 lethal giant larvae homolog 1 (Drosophila) Human Protein Binding 3996 Q15334
LOC646057 Human Protein Binding 646057 N/A
LOC646377 Human Protein Binding 646377 N/A
LOC647013 Human Protein Binding 647013 N/A
LPL lipoprotein lipase Human Protein Binding 4023 P06858
LRRC42 leucine rich repeat containing 42 Human Protein Binding 115353 Q9Y546
LSM12 LSM12 homolog (S. cerevisiae) Human Protein Binding 124801 Q3MHD2
LYAR Ly1 antibody reactive Human Protein Binding 55646 Q9NX58
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) Human Protein Binding 4085 Q13257
MAGED2 melanoma antigen family D, 2 Human Protein Binding 10916 Q9UNF1
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha Human Protein Binding 84557 Q9H492
MAP1LC3C microtubule-associated protein 1 light chain 3 gamma Human Protein Binding 440738 Q9BXW4
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 Human Protein Binding 9261 P49137
MCM3 minichromosome maintenance complex component 3 Human Protein Binding 4172 P25205
MCM6 minichromosome maintenance complex component 6 Human Protein Binding 4175 Q14566
MCMBP minichromosome maintenance complex binding protein Human Protein Binding 79892 Q9BTE3
ME1 malic enzyme 1, NADP(+)-dependent, cytosolic Human Protein Binding 4199 P48163
METTL15 methyltransferase like 15 Human Protein Binding 76894 Q9DCL4
MIPEP mitochondrial intermediate peptidase Human Protein Binding 4285 Q99797
MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) Human Protein Binding 64210 Q96T76
MRPL14 mitochondrial ribosomal protein L14 Human Protein Binding 64928 Q6P1L8
MRPL21 mitochondrial ribosomal protein L21 Human Protein Binding 219927 Q7Z2W9
MRPL24 mitochondrial ribosomal protein L24 Human Protein Binding 79590 Q96A35
MRPL28 mitochondrial ribosomal protein L28 Human Protein Binding 10573 Q13084
MRPL37 mitochondrial ribosomal protein L37 Human Protein Binding 51253 Q9BZE1
MRPL4 mitochondrial ribosomal protein L4 Human Protein Binding 51073 Q9BYD3
MRPL45 mitochondrial ribosomal protein L45 Human Protein Binding 84311 Q9BRJ2
MRPL49 mitochondrial ribosomal protein L49 Human Protein Binding 740 Q13405
MRPS11 mitochondrial ribosomal protein S11 Human Protein Binding 64963 P82912
MRPS15 mitochondrial ribosomal protein S15 Human Protein Binding 64960 P82914
MRPS21 mitochondrial ribosomal protein S21 Human Protein Binding 54460 P82921
MRPS23 mitochondrial ribosomal protein S23 Human Protein Binding 51649 Q9Y3D9
MRPS26 mitochondrial ribosomal protein S26 Human Protein Binding 64949 Q9BYN8
MRPS27 mitochondrial ribosomal protein S27 Human Protein Binding 23107 Q92552
MRPS31 mitochondrial ribosomal protein S31 Human Protein Binding 10240 Q92665
MRPS34 mitochondrial ribosomal protein S34 Human Protein Binding 65993 P82930
MRPS9 mitochondrial ribosomal protein S9 Human Protein Binding 64965 P82933
MSH6 mutS homolog 6 (E. coli) Human Protein Binding 2956 P52701
MTFR2 mitochondrial fission regulator 2 Human Protein Binding 71804 Q8VED8
MTMR3 myotubularin related protein 3 Human Protein Binding 8897 Q13615
MYBBP1A MYB binding protein (P160) 1a Human Protein Binding 10514 Q9BQG0
MYEOV2 myeloma overexpressed 2 Human Protein Binding 150678 Q8WXC6
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 Human Protein Binding 254827 Q58DX5
Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing Mouse Protein Binding 66830 Q7TSZ8
NAP1L1 nucleosome assembly protein 1-like 1 Human Protein Binding 4673 P55209
NCBP1 nuclear cap binding protein subunit 1, 80kDa Human Protein Binding 4686 Q09161
NDUFA4P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 Human Protein Binding 360165 N/A
NEDD8 neural precursor cell expressed, developmentally down-regulated 8 Human Protein Binding 4738 Q15843
NISCH nischarin Human Protein Binding 11188 Q9Y2I1
NKRF NFKB repressing factor Human Protein Binding 55922 G3V1N1
NLE1 notchless homolog 1 (Drosophila) Human Protein Binding 54475 Q9NVX2
NSFL1C NSFL1 (p97) cofactor (p47) Human Protein Binding 55968 Q53FE8
NSUN2 NOP2/Sun RNA methyltransferase family, member 2 Human Protein Binding 54888 Q08J23
NTPCR nucleoside-triphosphatase, cancer-related Human Protein Binding 84284 Q5TDE9
NUDCD3 NudC domain containing 3 Human Protein Binding 23386 Q8IVD9
NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 Human Protein Binding 84309 B2RD96
NUDT21 nudix (nucleoside diphosphate linked moiety X)-type motif 21 Human Protein Binding 11051 O43809
NUP107 nucleoporin 107kDa Human Protein Binding 57122 P57740
NUP160 nucleoporin 160kDa Human Protein Binding 23279 Q12769
NUP88 nucleoporin 88kDa Human Protein Binding 4927 Q99567
NYAP1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 Human Protein Binding 222950 Q6ZVC0
OFCC1 orofacial cleft 1 candidate 1 Human Protein Binding 266553 Q8IZS5
OR2T35 olfactory receptor, family 2, subfamily T, member 35 Human Protein Binding 403244 Q8NGX2
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I Human Protein Binding 5033 P13674
P4HB prolyl 4-hydroxylase, beta polypeptide Human Protein Binding 5034 P07237
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) Human Protein Binding 8761 Q13310
PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase Human Protein Binding 10606 P22234
PBDC1 polysaccharide biosynthesis domain containing 1 Human Protein Binding 51260 Q9BVG4
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha Human Protein Binding 5092 P61457
PCDHA6 protocadherin alpha 6 Human Protein Binding 56142 Q9UN73
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase Human Protein Binding 5110 H7BY58
PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 Human Protein Binding 5161 P29803
PDPR pyruvate dehydrogenase phosphatase regulatory subunit Human Protein Binding 55066 Q8NCN5
PDXK pyridoxal (pyridoxine, vitamin B6) kinase Human Protein Binding 8566 O00764
PEF1 penta-EF-hand domain containing 1 Human Protein Binding 553115 Q9UBV8
PELO pelota homolog (Drosophila) Human Protein Binding 53918 Q9BRX2
PFKP phosphofructokinase, platelet Human Protein Binding 5214 B3KS15
PGAM5 phosphoglycerate mutase family member 5 Human Protein Binding 192111 Q96HS1
PGM3 phosphoglucomutase 3 Human Protein Binding 5238 B4DX94
PHAX phosphorylated adaptor for RNA export Human Protein Binding 51808 Q9H814
PHF6 PHD finger protein 6 Human Protein Binding 84295 Q8IWS0
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Human Protein Binding 5351 Q02809
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 Human Protein Binding 8985 O60568
POLDIP2 polymerase (DNA-directed), delta interacting protein 2 Human Protein Binding 26073 Q9Y2S7
POLR2E polymerase (RNA) II (DNA directed) polypeptide E, 25kDa Human Protein Binding 5434 P19388
POLRMT polymerase (RNA) mitochondrial (DNA directed) Human Protein Binding 5442 O00411
POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) Human Protein Binding 10940 Q99575
PPIH peptidylprolyl isomerase H (cyclophilin H) Human Protein Binding 10465 O43447
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme Human Protein Binding 5499 P62136
PPP1R15A protein phosphatase 1, regulatory subunit 15A Human Protein Binding 23645 O75807
PPP4C protein phosphatase 4, catalytic subunit Human Protein Binding 5531 P60510
PRDX3 peroxiredoxin 3 Human Protein Binding 10935 P30048
PRDX4 peroxiredoxin 4 Human Protein Binding 10549 Q13162
PRMT1 protein arginine methyltransferase 1 Human Protein Binding 3276 B4E3C3
PRPF19 PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) Human Protein Binding 27339 Q9UMS4
PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) Human Protein Binding 26121 F1T0A5
PRPF4 PRP4 pre-mRNA processing factor 4 homolog (yeast) Human Protein Binding 9128 O43172
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) Human Protein Binding 10594 Q6P2Q9
PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 Human Protein Binding 5700 P62191
PTPRT protein tyrosine phosphatase, receptor type, T Human Protein Binding 11122 O14522
PUF60 poly-U binding splicing factor 60KDa Human Protein Binding 22827 Q9UHX1
PURA purine-rich element binding protein A Human Protein Binding 5813 Q00577
PWP2 PWP2 periodic tryptophan protein homolog (yeast) Human Protein Binding 5822 Q15269
PXDNL peroxidasin homolog (Drosophila)-like Human Protein Binding 137902 A1KZ92
PYCR1 pyrroline-5-carboxylate reductase 1 Human Protein Binding 5831 P32322
PYCR2 pyrroline-5-carboxylate reductase family, member 2 Human Protein Binding 29920 Q96C36
PYCRL pyrroline-5-carboxylate reductase-like Human Protein Binding 65263 Q53H96
QDPR quinoid dihydropteridine reductase Human Protein Binding 5860 P09417
QPCT glutaminyl-peptide cyclotransferase Human Protein Binding 25797 Q16769
RAE1 RAE1 RNA export 1 homolog (S. pombe) Human Protein Binding 8480 P78406
RARS arginyl-tRNA synthetase Human Protein Binding 5917 P54136
RBM10 RNA binding motif protein 10 Human Protein Binding 8241 P98175
RBM14 RNA binding motif protein 14 Human Protein Binding 10432 Q96PK6
RBM28 RNA binding motif protein 28 Human Protein Binding 55131 B4DU52
RBM45 RNA binding motif protein 45 Human Protein Binding 129831 Q8IUH3
RBMXL2 RNA binding motif protein, X-linked-like 2 Human Protein Binding 27288 O75526
RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 Human Protein Binding 55213 B3KR20
RFC2 replication factor C (activator 1) 2, 40kDa Human Protein Binding 5982 P35250
RFC5 replication factor C (activator 1) 5, 36.5kDa Human Protein Binding 5985 F8W9B4
RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 Human Protein Binding 83695 Q9BSD3
RHOBTB2 Rho-related BTB domain containing 2 Human Protein Binding 23221 A8K9Z8
RHOBTB3 Rho-related BTB domain containing 3 Human Protein Binding 22836 O94955
RNMT RNA (guanine-7-) methyltransferase Human Protein Binding 8731 O43148
RNPS1 RNA binding protein S1, serine-rich domain Human Protein Binding 10921 D3DU92
Rorc RAR-related orphan receptor gamma Mouse Protein Binding 19885 P51450
RPL10A ribosomal protein L10a Human Protein Binding 4736 P62906
RPL10P16 ribosomal protein L10 pseudogene 16 Human Protein Binding 284393 N/A
RPL13P12 ribosomal protein L13 pseudogene 12 Human Protein Binding 388344 N/A
RPL21P16 ribosomal protein L21 pseudogene 16 Human Protein Binding 729402 N/A
RPL21P19 ribosomal protein L21 pseudogene 19 Human Protein Binding 641293 N/A
RPL26L1 ribosomal protein L26-like 1 Human Protein Binding 51121 Q9UNX3
RPL31 ribosomal protein L31 Human Protein Binding 6160 P62899
RPL36AP37 ribosomal protein L36a pseudogene 37 Human Protein Binding 729362 N/A
RPL5 ribosomal protein L5 Human Protein Binding 6125 A2RUM7
RPL7A ribosomal protein L7a Human Protein Binding 6130 P62424
RPL7AP27 ribosomal protein L7a pseudogene 27 Human Protein Binding 152663 N/A
RPL8 ribosomal protein L8 Human Protein Binding 6132 P62917
RPL9 ribosomal protein L9 Human Protein Binding 6133 P32969
RPP25L ribonuclease P/MRP 25kDa subunit-like Human Protein Binding 138716 Q8N5L8
RPP30 ribonuclease P/MRP 30kDa subunit Human Protein Binding 10556 P78346
RPS10 ribosomal protein S10 Human Protein Binding 6204 P46783
RPS16 ribosomal protein S16 Human Protein Binding 6217 P62249
RPS17 ribosomal protein S17 Human Protein Binding 6218 P08708
RPS2 ribosomal protein S2 Human Protein Binding 6187 P15880
RPS20 ribosomal protein S20 Human Protein Binding 6224 P60866
RPS26P54 ribosomal protein S26 pseudogene 54 Human Protein Binding 100131971 N/A
RPS28 ribosomal protein S28 Human Protein Binding 6234 B2R4R9
RPS7 ribosomal protein S7 Human Protein Binding 6201 P62081
RPS7P4 ribosomal protein S7 pseudogene 4 Human Protein Binding 149224 N/A
RPS8 ribosomal protein S8 Human Protein Binding 6202 P62241
RPSAP12 ribosomal protein SA pseudogene 12 Human Protein Binding 387867 N/A
RPSAP15 ribosomal protein SA pseudogene 15 Human Protein Binding 220885 N/A
RPSAP55 ribosomal protein SA pseudogene 55 Human Protein Binding 388122 N/A
RRBP1 ribosome binding protein 1 Human Protein Binding 6238 Q9P2E9
RRP12 ribosomal RNA processing 12 homolog (S. cerevisiae) Human Protein Binding 23223 B3KMR5
RRP15 ribosomal RNA processing 15 homolog (S. cerevisiae) Human Protein Binding 51018 Q9Y3B9
SAMHD1 SAM domain and HD domain 1 Human Protein Binding 25939 Q59H15
SART1 squamous cell carcinoma antigen recognized by T cells Human Protein Binding 9092 O43290
SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) Human Protein Binding 9997 O43819
SDF2L1 stromal cell-derived factor 2-like 1 Human Protein Binding 23753 Q9HCN8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Human Protein Binding 6390 P21912
SEC13 SEC13 homolog (S. cerevisiae) Human Protein Binding 6396 A8MV37
SEC24C SEC24 family, member C (S. cerevisiae) Human Protein Binding 9632 P53992
SF3A1 splicing factor 3a, subunit 1, 120kDa Human Protein Binding 10291 E9PAW1
SF3B1 splicing factor 3b, subunit 1, 155kDa Human Protein Binding 23451 A0JLT9
SF3B3 splicing factor 3b, subunit 3, 130kDa Human Protein Binding 23450 A8K6V3
SHKBP1 SH3KBP1 binding protein 1 Human Protein Binding 92799 Q8TBC3
SLC16A1 solute carrier family 16, member 1 (monocarboxylic acid transporter 1) Human Protein Binding 6566 P53985
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 Human Protein Binding 6507 P43003
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 Human Protein Binding 79751 Q9H936
SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 Human Protein Binding 79085 Q9BV35
SLC3A2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 Human Protein Binding 6520 J3KPF3
SMC1A structural maintenance of chromosomes 1A Human Protein Binding 8243 Q14683
SMN1 survival of motor neuron 1, telomeric Human Protein Binding 6606 Q16637
SMN2 survival of motor neuron 2, centromeric Human Protein Binding 6607 Q16637
SMNDC1 survival motor neuron domain containing 1 Human Protein Binding 10285 O75940
SNRPA small nuclear ribonucleoprotein polypeptide A Human Protein Binding 6626 P09012
SNRPB2 small nuclear ribonucleoprotein polypeptide B Human Protein Binding 6629 P08579
SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa Human Protein Binding 6633 P62316
SNW1 SNW domain containing 1 Human Protein Binding 22938 Q13573
SRPK1 SRSF protein kinase 1 Human Protein Binding 6732 B4DS61
SRSF11 serine/arginine-rich splicing factor 11 Human Protein Binding 9295 Q05519
SRSF5 serine/arginine-rich splicing factor 5 Human Protein Binding 6430 Q13243
SSR1 signal sequence receptor, alpha Human Protein Binding 6745 P43307
Stat1 signal transducer and activator of transcription 1 Mouse Protein Binding 20846 P42225
STRBP spermatid perinuclear RNA binding protein Human Protein Binding 55342 Q96SI9
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit Human Protein Binding 8801 Q3ZCW5
SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) Human Protein Binding 11198 Q9Y5B9
SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) Human Protein Binding 6829 O00267
TAF5 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa Human Protein Binding 6877 Q15542
TBL2 transducin (beta)-like 2 Human Protein Binding 26608 Q9Y4P3
TECR trans-2,3-enoyl-CoA reductase Human Protein Binding 9524 Q9NZ01
TEFM transcription elongation factor, mitochondrial Human Protein Binding 79736 Q96QE5
TFAM transcription factor A, mitochondrial Human Protein Binding 7019 A8MRB2
TFB2M transcription factor B2, mitochondrial Human Protein Binding 64216 Q9H5Q4
TFG TRK-fused gene Human Protein Binding 10342 Q92734
tim timeless Fruit Fly Protein Binding 33571 P49021
TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) Human Protein Binding 26517 Q9Y5L4
TIPRL TIP41, TOR signaling pathway regulator-like (S. cerevisiae) Human Protein Binding 261726 O75663
TMTC2 transmembrane and tetratricopeptide repeat containing 2 Human Protein Binding 160335 Q8N394
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a Human Protein Binding 8797 O00220
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b Human Protein Binding 8795 O14763
TNRC6C trinucleotide repeat containing 6C Human Protein Binding 57690 G3XAB8
TOE1 target of EGR1, member 1 (nuclear) Human Protein Binding 114034 Q96GM8
TPM3 tropomyosin 3 Human Protein Binding 7170 P06753
TRAP1 TNF receptor-associated protein 1 Human Protein Binding 10131 Q12931
TRIM28 tripartite motif containing 28 Human Protein Binding 10155 Q13263
TRMT10C tRNA methyltransferase 10 homolog C (S. cerevisiae) Human Protein Binding 54931 Q7L0Y3
TRMT6 tRNA methyltransferase 6 homolog (S. cerevisiae) Human Protein Binding 51605 Q9UJA5
TTC37 tetratricopeptide repeat domain 37 Human Protein Binding 9652 Q6PGP7
TTC7B tetratricopeptide repeat domain 7B Human Protein Binding 145567 Q6PIF1
TUBA1C tubulin, alpha 1c Human Protein Binding 84790 Q9BQE3
TUBA3C tubulin, alpha 3c Human Protein Binding 7278 Q13748
TUBA3D tubulin, alpha 3d Human Protein Binding 113457 Q13748
TUBA4A tubulin, alpha 4a Human Protein Binding 7277 P68366
TUBA4B tubulin, alpha 4b (pseudogene) Human Protein Binding 80086 Q9H853
TUBB1 tubulin, beta 1 class VI Human Protein Binding 81027 Q9H4B7
TUBB4A tubulin, beta 4A class IVa Human Protein Binding 10382 P04350
TUBB4B tubulin, beta 4B class IVb Human Protein Binding 10383 P68371
TUBB6 tubulin, beta 6 class V Human Protein Binding 84617 Q9BUF5
TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) Human Protein Binding 81567 Q6EHZ3
UBA1 ubiquitin-like modifier activating enzyme 1 Human Protein Binding 7317 P22314
UBE2E2 ubiquitin-conjugating enzyme E2E 2 Human Protein Binding 7325 Q96LR5
UBR5 ubiquitin protein ligase E3 component n-recognin 5 Human Protein Binding 51366 O95071
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 Human Protein Binding 56886 Q9NYU2
UMPS uridine monophosphate synthetase Human Protein Binding 7372 A8K5J1
UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) Human Protein Binding 5976 Q92900
UST uronyl-2-sulfotransferase Human Protein Binding 10090 Q9Y2C2
VIM vimentin Human Protein Binding 7431 P08670
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog Human Protein Binding 63894 Q6IA61
WBSCR22 Williams Beuren syndrome chromosome region 22 Human Protein Binding 114049 C9K060
WDR18 WD repeat domain 18 Human Protein Binding 57418 Q9BV38
WDR6 WD repeat domain 6 Human Protein Binding 11180 Q9NNW5
WDR77 WD repeat domain 77 Human Protein Binding 79084 Q9BQA1
WNK4 WNK lysine deficient protein kinase 4 Human Protein Binding 65266 B0LPI0
XPNPEP3 X-prolyl aminopeptidase (aminopeptidase P) 3, putative Human Protein Binding 63929 Q9NQH7
YAE1D1 Yae1 domain containing 1 Human Protein Binding 57002 B2RC46
YBX3 cold shock domain protein A Human Protein Binding 8531 P16989
YLPM1 YLP motif containing 1 Human Protein Binding 56252 P49750
YTHDC2 YTH domain containing 2 Human Protein Binding 64848 Q9H6S0
ZC3H18 zinc finger CCCH-type containing 18 Human Protein Binding 124245 Q86VM9
ZMAT4 zinc finger, matrin-type 4 Human Protein Binding 79698 Q9H898
ZNF444 zinc finger protein 444 Human Protein Binding 55311 Q8N0Y2
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