Human Gene Module / Chromosome 18 / KATNAL2

KATNAL2Katanin p60 subunit A-like 2

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
14 / 17
Rare Variants / Common Variants
54 / 0
EAGLE Score
4.1
Limited Learn More
Aliases
KATNAL2, DKFZp667C165,  MGC33211
Associated Syndromes
-
Chromosome Band
18q21.1
Associated Disorders
-
Genetic Category
Rare Single Gene Mutation, Functional
Relevance to Autism

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Molecular Function

Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to KATNAL2 (17 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De novo mutations revealed by whole-exome sequencing are strongly associated with autism Sanders SJ , et al. (2012) Yes -
2 Support Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations O'Roak BJ , et al. (2012) Yes -
3 Recent Recommendation Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
4 Support Whole-genome sequencing of quartet families with autism spectrum disorder Yuen RK , et al. (2015) Yes -
5 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission Iossifov I , et al. (2015) Yes -
6 Recent Recommendation A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons Williams MR , et al. (2016) No -
7 Support Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Stessman HA , et al. (2017) Yes -
8 Recent Recommendation Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos Willsey HR , et al. (2018) No -
9 Support Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model Guo H , et al. (2018) Yes -
10 Support Characterization of intellectual disability and autism comorbidity through gene panel sequencing Aspromonte MC , et al. (2019) Yes -
11 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
12 Support Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use Husson T , et al. (2020) Yes -
13 Support Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes -
14 Support - Zheng J et al. (2022) Yes -
15 Recent Recommendation - Weinschutz Mendes H et al. (2023) Yes -
16 Support - Ryeonghwa Kang et al. (2024) Yes -
17 Recent recommendation - Tyrone DeSpenza Jr et al. (2024) No ASD, DD
Rare Variants   (54)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.622C>T p.Arg208Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.730C>T p.Arg244Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
- - splice_site_variant De novo - Simplex 22495309 O'Roak BJ , et al. (2012)
c.1321G>T p.Glu441Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.589G>A p.Ala197Thr missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.837G>T p.Trp279Cys missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.953T>C p.Leu318Pro missense_variant Unknown - - 33004838 Wang T et al. (2020)
AC>A - frameshift_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1037C>T p.Ala346Val missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1085G>A p.Arg362Gln missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1106G>A p.Arg369His missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1202G>C p.Arg401Pro missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1211C>G p.Thr404Arg missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1391C>T p.Pro464Leu missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1435T>A p.Tyr479Asn missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1508T>G p.Met503Arg missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.2T>G p.Met1? initiator_codon_variant Unknown - - 33004838 Wang T et al. (2020)
- - copy_number_loss Familial Paternal Multiplex 32094338 Husson T , et al. (2020)
c.967+1G>A - splice_site_variant Familial Maternal - 33004838 Wang T et al. (2020)
c.995+1G>C - splice_site_variant De novo - Simplex 22495309 O'Roak BJ , et al. (2012)
c.510+1G>A - splice_site_variant De novo - Simplex 22495306 Sanders SJ , et al. (2012)
c.727T>C p.Phe243Leu missense_variant De novo - - 28191889 Stessman HA , et al. (2017)
c.673+1G>A - splice_site_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1084C>T p.Arg362Trp missense_variant Unknown - Simplex 33004838 Wang T et al. (2020)
c.1106G>A p.Arg369His missense_variant Unknown - Simplex 33004838 Wang T et al. (2020)
c.1165G>T p.Gly389Cys missense_variant Unknown - Simplex 33004838 Wang T et al. (2020)
c.1201C>T p.Arg401Trp missense_variant Unknown - Simplex 33004838 Wang T et al. (2020)
c.436C>T p.Arg146Ter stop_gained Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.769del p.Ser257ValfsTer10 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.798del p.Ser267AlafsTer11 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1286C>T p.Pro429Leu missense_variant Familial Maternal - 33004838 Wang T et al. (2020)
c.730T>C p.Phe244Leu missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.740C>T p.Ser247Phe missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.907C>T p.Arg303Trp missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.908G>A p.Arg303Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.157C>T p.Gln53Ter stop_gained Familial Maternal Multiplex 25621899 Yuen RK , et al. (2015)
c.429del p.Ser144GlnfsTer5 frameshift_variant De novo - - 28191889 Stessman HA , et al. (2017)
c.1022G>A p.Arg341His missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1045G>A p.Asp349Asn missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
C>T p.Thr435Pro missense_variant Unknown - Simplex 38916997 Tyrone DeSpenza Jr et al. (2024)
c.160C>T p.Gln54Ter stop_gained Familial Maternal Multiplex 31398340 Ruzzo EK , et al. (2019)
c.436C>T p.Arg146Ter stop_gained Familial - Simplex 38916997 Tyrone DeSpenza Jr et al. (2024)
c.664G>A p.Gly222Ser missense_variant Familial Maternal Simplex 30564305 Guo H , et al. (2018)
c.664G>A p.Gly222Ser missense_variant Familial Paternal Simplex 30564305 Guo H , et al. (2018)
c.723del p.Ser242GlnfsTer5 frameshift_variant Familial Maternal - 33004838 Wang T et al. (2020)
c.1217_1218insCT p.Leu406PhefsTer19 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.743C>T p.Ala248Val missense_variant Familial Maternal - 31209962 Aspromonte MC , et al. (2019)
c.699A>C p.Lys233Asn missense_variant Familial - Simplex 38916997 Tyrone DeSpenza Jr et al. (2024)
c.1045G>T p.Asp349Tyr missense_variant Unknown - Simplex 38916997 Tyrone DeSpenza Jr et al. (2024)
c.1318G>A p.Asp440Asn missense_variant Familial - Simplex 38916997 Tyrone DeSpenza Jr et al. (2024)
c.790C>T p.Arg264Trp missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.384del p.Gln129LysfsTer10 frameshift_variant Familial Paternal Simplex 33004838 Wang T et al. (2020)
c.425del p.Asp142AlafsTer7 frameshift_variant Familial Maternal Multiplex 31398340 Ruzzo EK , et al. (2019)
c.383del p.Pro128ArgfsTer11 frameshift_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Score Delta: Score remained at 1

criteria met
See SFARI Gene'scoring criteria
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.

10/1/2020
1
icon
1

Score remained at 1

Description

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Reports Added
[Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020]
1/1/2020
1
icon
1

Score remained at 1

Description

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Reports Added
[Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.2020]
10/1/2019
1
icon
1

Score remained at 1

New Scoring Scheme
Description

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Reports Added
[New Scoring Scheme]
7/1/2019
1
icon
1

Score remained at 1

Description

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Reports Added
[Characterization of intellectual disability and autism comorbidity through gene panel sequencing.2019] [Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
1/1/2019
1
icon
1

Score remained at 1

Description

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Reports Added
[Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.2018]
7/1/2018
1
icon
1

Score remained at 1

Description

De novo loss-of-function (LoF) variants in the KATNAL2 gene were identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 (PMID 28191889).

Reports Added
[Katanin-like protein Katnal2 is required for ciliogenesis and brain development in Xenopus embryos.2018]
1/1/2017
2
icon
1

Decreased from 2 to 1

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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 loss-of-function variant and a likely damaging de novo missense variant in KATNAL2 were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.

Reports Added
[Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017]
4/1/2016
2
icon
2

Decreased from 2 to 2

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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).

Reports Added
[De novo mutations revealed by whole-exome sequencing are strongly associated with autism.2012] [Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons.2016]
1/1/2016
2
icon
2

Decreased from 2 to 2

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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).

Reports Added
[De novo mutations revealed by whole-exome sequencing are strongly associated with autism.2012] [Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015]
1/1/2015
2
icon
2

Decreased from 2 to 2

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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).

Reports Added
[Whole-genome sequencing of quartet families with autism spectrum disorder.2015]
10/1/2014
3
icon
2

Decreased from 3 to 2

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Two of these variants are stop-gains and many are missense variants in EVS. 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 KATNAL2 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).

Reports Added
[Synaptic, transcriptional and chromatin genes disrupted in autism.2014]
7/1/2014
No data
icon
3

Increased from No data to 3

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Three of these variants are stop-gains and many are missense variants in EVS.

4/1/2014
No data
icon
3

Increased from No data to 3

Description

De novo variants in the KATNAL2 gene have been identified in autistic probands from simplex families in two separate reports (PMIDs 22495306 and 22495309). Three of these variants are stop-gains and many are missense variants in EVS.

Krishnan Probability Score

Score 0.49151855455652

Ranking 5473/25841 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.
Original Source
ExAC Score

Score 0.0001258619690853

Ranking 12966/18225 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
Original Source
Iossifov Probability Score

Score 0.85

Ranking 191/239 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
Original Source
Sanders TADA Score

Score 0.0063798003959267

Ranking 26/18665 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).
Original Source
Larsen Cumulative Evidence Score

Score 39

Ranking 51/461 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.
Original Source
Zhang D Score

Score 0.11731039432089

Ranking 5776/20870 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.
Original Source
External PIN Data
BioGRIDHuman Protein Reference Database
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
STRIP1 striatin interacting protein 1 Human Protein Binding 85369 Q5VSL9
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