Human Gene Module / Chromosome 18 / ASXL3

ASXL3Additional sex combs like 3 (Drosophila)

Score
1S
High Confidence, Syndromic Criteria 1.1, Syndromic
Autism Reports / Total Reports
7 / 16
Rare Variants / Common Variants
53 / 0
Aliases
ASXL3, KIAA1713
Associated Syndromes
Bainbridge-Ropers syndrome
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
18q12.1
Associated Disorders
DD/NDD, EPS, ID, ASD
Relevance to Autism

Four de novo loss-of-function (LoF) variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760, 28263302). 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 ASXL3 as a gene meeting high statistical significance with a 0.01 < FDR ? 0.05, meaning that this gene had a ? 95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720, 27901041). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features (PMID 28100473).

Molecular Function

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility. Heterozygous de novo truncating variants in this gene were recently identified in patients with a novel clinical phenotype similar to Bohring-Opitz syndrome (Bainbridge et al., 2013).

Reports related to ASXL3 (16 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Recent Recommendation De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Bainbridge MN , et al. (2013) No ID (1 case)
2 Primary De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. Dinwiddie DL , et al. (2013) Yes DD
3 Recent recommendation Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
4 Recent recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
5 Support De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome. Srivastava A , et al. (2015) No DD, ID
6 Support Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Hori I , et al. (2016) No ASD, DD
7 Support Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Kuechler A , et al. (2016) No ID
8 Recent recommendation Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 ... Balasubramanian M , et al. (2017) No ID, ASD/autistic features (9/12 cases)
9 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
10 Support A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Vissers LE , et al. (2017) No -
11 Support Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3. Contreras-Capetillo SN , et al. (2017) No DD, microcephaly
12 Support Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling KM , et al. (2017) Yes -
13 Support Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. Giri D , et al. (2017) No ASD, DD
14 Support Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Li J , et al. (2017) Yes -
15 Support Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. Zhao JJ , et al. (2017) Yes Hypotonia, dysmorphic features
16 Support A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. Koboldt DC , et al. (2018) No DD, ID, epilepsy/seizures, autistic features
Rare Variants   (53)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1210C>T p.Gln404Ter stop_gained De novo - - 23383720 Bainbridge MN , et al. (2013)
c.1396C>T p.Gln466Ter stop_gained De novo - - 23383720 Bainbridge MN , et al. (2013)
c.1975_1978del p.Thr659fsTer41 frameshift_variant De novo - - 23383720 Bainbridge MN , et al. (2013)
insT p.Pro474fs frameshift_variant De novo - - 23383720 Bainbridge MN , et al. (2013)
c.1897_1898delCA p.Gln633ValfsTer13 frameshift_variant De novo - Simplex 24044690 Dinwiddie DL , et al. (2013)
c.3106C>T p.Arg1036Ter stop_gained De novo - Simplex 25363760 De Rubeis S , et al. (2014)
ins(T) - frameshift_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.4817G>A p.Arg1606Gln missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5309G>A p.Gly1770Glu missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5468G>A p.Arg1823Gln missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6737T>C p.Val2246Ala missense_variant Familial Paternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.2773C>G p.His925Asp missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.3407A>G p.Lys1136Arg missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.2396C>T p.Ser799Phe missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6724G>T p.Val2242Leu missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.2153C>T p.Pro718Leu missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4466T>A p.Val1489Asp missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6374A>G p.Tyr2125Cys missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.182A>T p.Asn61Ile missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.274G>A p.Gly92Ser missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.2923T>G p.Cys975Gly missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1448dupT p.Thr484AsnfsTer5 frameshift_variant De novo - - 26647312 Srivastava A , et al. (2015)
c.4330T>C p.Arg1444Ter stop_gained Unknown Not maternal - 26647312 Srivastava A , et al. (2015)
c.3364C>T p.Gln1122Ter stop_gained De novo - - 26647312 Srivastava A , et al. (2015)
c.3039+1G>A p.? splice_site_variant De novo - - 27075689 Hori I , et al. (2016)
c.1219delA p.Ser407AlafsTer2 frameshift_variant De novo - - 27901041 Kuechler A , et al. (2016)
c.1369G>T p.Glu457Ter stop_gained De novo - - 27901041 Kuechler A , et al. (2016)
c.3106C>T p.Arg1036Ter stop_gained De novo - - 27901041 Kuechler A , et al. (2016)
c.3494_3495delGT p.Cys1165Ter frameshift_variant De novo - - 27901041 Kuechler A , et al. (2016)
c.3613G>T p.Glu1205Ter stop_gained De novo - - 27901041 Kuechler A , et al. (2016)
c.4072_4073delGT p.Val1358LeufsTer8 frameshift_variant De novo - - 27901041 Kuechler A , et al. (2016)
c.4330C>T p.Arg1444Ter stop_gained De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1201del p.Ala401GlnfsTer8 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1074T>A p.Tyr358Ter stop_gained De novo - - 28100473 Balasubramanian M , et al. (2017)
c.4144C>T p.Gln1382Ter stop_gained De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1783C>T p.Gln595Ter stop_gained De novo - - 28100473 Balasubramanian M , et al. (2017)
c.3355dup p.His1119ProfsTer7 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1082dup p.Leu362AlafsTer23 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.3635T>G p.Leu1212Ter stop_gained De novo - - 28100473 Balasubramanian M , et al. (2017)
c.3127_3128dup p.Gly1045ValfsTer99 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.3178dup p.Arg1060ProfsTer50 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1484insTGAA p.Asp497Ter frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1491dup p.Asn498Ter frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.4906C>T p.Gln1636Ter stop_gained De novo - Simplex 28263302 C Yuen RK , et al. (2017)
c.4219_4220del p.Leu1407fs frameshift_variant De novo - - 28333917 Vissers LE , et al. (2017)
c.2992_2995del p.Glu998fs frameshift_variant De novo - - 28431838 Contreras-Capetillo SN , et al. (2017)
c.1682C>A p.Ser561Ter stop_gained Unknown - - 28554332 Bowling KM , et al. (2017)
c.6640T>C p.Ser2214Pro missense_variant Unknown - - 28554332 Bowling KM , et al. (2017)
c.2965C>T p.Arg989Gly missense_variant Familial Maternal - 28785287 Giri D , et al. (2017)
c.3078G>C p.Lys1026Asn missense_variant Familial Paternal - 28785287 Giri D , et al. (2017)
c.169A>G p.Met57Val missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.4143dupC p.Leu1395ProfsTer5 frameshift_variant De novo - Multiplex 28990276 Zhao JJ , et al. (2017)
c.3106C>T p.Arg1036Ter stop_gained De novo - Multiplex 29305346 Koboldt DC , et al. (2018)
Common Variants  

No common variants reported.

SFARI Gene score
1S

High Confidence, Syndromic

Four de novo loss-of-function (LoF) variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760, 28263302). 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 ASXL3 as a gene meeting high statistical significance with a 0.01 < FDR ? 0.05, meaning that this gene had a ? 95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720, 27901041). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features (PMID 28100473).

Score Delta: Score remained at 1S

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.

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."

1/1/2018
1S
icon
1S

Score remained at 1S

Description

Four de novo loss-of-function (LoF) variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760, 28263302). 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 ASXL3 as a gene meeting high statistical significance with a 0.01 < FDR ? 0.05, meaning that this gene had a ? 95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720, 27901041). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features (PMID 28100473).

10/1/2017
1S
icon
1S

Score remained at 1S

Description

Four de novo loss-of-function (LoF) variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760, 28263302). 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 ASXL3 as a gene meeting high statistical significance with a 0.01 < FDR ? 0.05, meaning that this gene had a ? 95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720, 27901041). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features (PMID 28100473).

7/1/2017
1S
icon
1S

Score remained at 1S

Description

Four de novo loss-of-function (LoF) variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760, 28263302). 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 ASXL3 as a gene meeting high statistical significance with a 0.01 < FDR ? 0.05, meaning that this gene had a ? 95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720, 27901041). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features (PMID 28100473).

4/1/2017
1S
icon
1S

Score remained at 1S

Description

Three de novo LoF variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720). 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 ASXL3 as a gene meeting high statistical significance with a 0.01< FDR ?0.05, meaning that this gene had a ?95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features.

1/1/2017
1S
icon
1S

Score remained at 1S

Description

Three de novo LoF variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720). 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 ASXL3 as a gene meeting high statistical significance with a 0.01 < FDR ?0.05, meaning that this gene had a ?95% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Balasubramanian et al., 2017 reported 12 new patients with de novo heterozygous loss-of-function variants in ASXL3 and a diagnosis of Bainbridge-Ropers syndrome; nine of these patients were either formally diagnosed with autism or ASD, or were described as having autistic features.

10/1/2016
1S
icon
1S

Score remained at 1S

Description

Three de novo LoF variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720). 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 ASXL3 as a gene meeting high statistical significance with a 0.01

4/1/2016
1S
icon
1S

Score remained at 1S

Description

Three de novo LoF variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720). 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 ASXL3 as a gene meeting high statistical significance with a 0.01

1/1/2016
1S
icon
1S

Score remained at 1S

Description

Three de novo LoF variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720). 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 ASXL3 as a gene meeting high statistical significance with a 0.01

10/1/2014
icon
1S

Increased from to 1S

Description

Three de novo LoF variants in the ASXL3 gene have been identified in ASD probands (PMIDs 24044690, 25363760). De novo truncating variants in this gene have also been identified in individuals presenting with a syndrome that shares characteristics with Bohring-Opitz syndrome, including developmental delay, post-natal growth retardation and feeding problems (PMID 23383720). 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 ASXL3 as a gene meeting high statistical significance with a 0.01

Krishnan Probability Score

Score 0.49389101063994

Ranking 3932/25841 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 0.99997704847346

Ranking 523/18225 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 0.976

Ranking 46/239 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 0.10499768511766

Ranking 67/18665 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 47

Ranking 37/461 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 0.42624965938137

Ranking 1163/20870 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.
CNVs associated with ASXL3(1 CNVs)
18q12.1 16 Deletion-Duplication 26  /  88
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) Human Protein Binding 8314 Q92560
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