Human Gene Module / Chromosome 18 / ASXL3

ASXL3Additional sex combs like 3 (Drosophila)

SFARI Gene Score
1S
High Confidence, Syndromic Criteria 1.1, Syndromic
Autism Reports / Total Reports
26 / 51
Rare Variants / Common Variants
110 / 0
EAGLE Score
28.85
Strong Learn More
Aliases
ASXL3, KIAA1713
Associated Syndromes
Bainbridge-Ropers syndrome, Bainbridge-Ropers syndrome, ASD, DD, ID, Bainbridge-Ropers syndrome, DD, epilepsy/seizures
Chromosome Band
18q12.1
Associated Disorders
DD/NDD, ID, EP, EPS, ASD
Genetic Category
Rare Single Gene Mutation, Syndromic
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) 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). A de novo likely gene-disruptive variant in ASXL3 was identified in an ASD proband from the SPARK cohort in Feliciano et al., 2019; a meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA in the same report identified ASXL3 as an ASD candidate gene with a false discovery rate (FDR) 0.01. A detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome in Schirwani et al., 2021 found that a diagnosis of autism spectrum disorder was made in 30% of individuals, and autistic traits including stereotypies, poor eye contact, hand flapping, rocking, and head shaking were present in the majority of individuals. 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 ASXL3 as a gene reaching exome-wide significance (P < 2.5E-06).

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).

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to ASXL3 (51 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
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 and review of published literature Balasubramanian M , et al. (2017) No ID, ASD or autistic features
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
17 Support Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome Verhoeven W , et al. (2018) No Autistic features, behavioral abnormalities
18 Support Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model Guo H , et al. (2018) Yes -
19 Support Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes Xiong J , et al. (2019) Yes ID
20 Support Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort Callaghan DB , et al. (2019) Yes -
21 Support Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay Wayhelova M , et al. (2019) No DD, ID, microcephaly, autistic features
22 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
23 Support Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019) Yes -
24 Support Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
25 Support Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use Husson T , et al. (2020) Yes -
26 Support Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report Yang L et al. (2020) No -
27 Support Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes -
28 Support - Li JR et al. (2020) Yes -
29 Support - Taşkıran EZ et al. (2021) No Epilepsy/seizures, autistic features
30 Support - Schirwani S et al. (2021) No ASD
31 Support - Mahjani B et al. (2021) Yes -
32 Support - Aguilera C et al. (2021) No Stereotypy
33 Support - Chen S et al. (2021) Yes DD, ID
34 Support - Wu K et al. (2021) No Autistic features
35 Support - Khan TR et al. (2022) No Autistic features
36 Support - Gerges P et al. (2022) Yes -
37 Support - Verberne EA et al. (2022) No -
38 Support - Brea-Fernández AJ et al. (2022) No -
39 Support - Hu C et al. (2022) Yes -
40 Support - Zhou X et al. (2022) Yes -
41 Support - Miyake N et al. (2023) Yes -
42 Support - Spataro N et al. (2023) Yes -
43 Support - Hu C et al. (2023) Yes DD, ID
44 Support - Wang J et al. (2023) Yes -
45 Support - Bartolomaeus T et al. (2023) No -
46 Support - Cirnigliaro M et al. (2023) Yes -
47 Support - Sanchis-Juan A et al. (2023) No -
48 Support - Amerh S Alqahtani et al. (2023) No -
49 Support - Maya C Ayoub et al. (2023) No -
50 Support - Tamam Khalaf et al. (2024) No -
51 Support - Axel Schmidt et al. (2024) No Epilepsy/seizures
Rare Variants   (110)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.4360C>T p.Gln1454Ter stop_gained De novo - - 37007974 Hu C et al. (2023)
c.1083-1G>A - splice_site_variant Unknown - - 33004838 Wang T et al. (2020)
c.2801T>G p.Leu934Ter stop_gained De novo - - 33004838 Wang T et al. (2020)
c.3039+1G>A - splice_site_variant De novo - - 27075689 Hori I , et al. (2016)
c.3106C>T p.Arg1036Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.3364C>T p.Gln1122Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.4144C>T p.Gln1382Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.4322C>G p.Ser1441Ter stop_gained De novo - - 33004838 Wang T et al. (2020)
c.1612G>T p.Glu538Ter stop_gained De novo - - 35172777 Khan TR et al. (2022)
c.3039+1G>T - splice_site_variant Unknown - - 35253369 Verberne EA et al. (2022)
c.3106C>T p.Arg1036Ter stop_gained De novo - - 34653234 Aguilera C et al. (2021)
c.1369G>T p.Glu457Ter stop_gained De novo - - 27901041 Kuechler A , et al. (2016)
c.1682C>A p.Ser561Ter stop_gained Unknown - - 28554332 Bowling KM , et al. (2017)
c.3043C>T p.Gln1015Ter stop_gained De novo - Simplex 34886823 Wu K et al. (2021)
c.1795G>T p.Glu599Ter stop_gained De novo - Simplex 33392332 Li JR et al. (2020)
c.6647G>A p.Arg2216Gln missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.3106C>T p.Arg1036Ter stop_gained De novo - - 27901041 Kuechler A , et al. (2016)
c.3613G>T p.Glu1205Ter stop_gained De novo - - 27901041 Kuechler A , et al. (2016)
c.1669G>T p.Glu557Ter stop_gained Unknown - - 39039281 Axel Schmidt et al. (2024)
c.1570G>T p.Glu524Ter stop_gained De novo - Simplex 37393044 Wang J et al. (2023)
c.5467C>T p.Arg1823Ter stop_gained Unknown - - 38438125 Tamam Khalaf et al. (2024)
c.3777T>C p.Asp1259%3D synonymous_variant De novo - - 35982159 Zhou X et al. (2022)
c.5467C>T p.Arg1823Ter stop_gained De novo - Simplex 30564305 Guo H , et al. (2018)
c.4399C>T p.Arg1467Ter stop_gained De novo - Simplex 37393044 Wang J et al. (2023)
c.3364C>T p.Gln1122Ter stop_gained De novo - - 26647312 Srivastava A , et al. (2015)
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.169A>G p.Met57Val missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.4906C>T p.Gln1636Ter stop_gained De novo - Simplex 28263302 C Yuen RK et al. (2017)
c.6640T>C p.Ser2214Pro missense_variant Unknown - - 28554332 Bowling KM , et al. (2017)
c.1074T>A p.Tyr358Ter 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.3136G>A p.Gly1046Arg missense_variant Familial Maternal - 35741772 Hu C et al. (2022)
c.5695C>T p.Arg1899Trp missense_variant De novo - Simplex 30564305 Guo H , et al. (2018)
c.3526C>T p.Arg1176Trp missense_variant Unknown - Simplex 33004838 Wang T et al. (2020)
c.3635T>G p.Leu1212Ter 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.4330C>T p.Arg1444Ter stop_gained De novo - - 28100473 Balasubramanian M , et al. (2017)
c.3833del p.Asn1278IlefsTer2 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.3493_3494deTG p.Cys1165Ter frameshift_variant De novo - - 32517662 Yang L et al. (2020)
c.3106C>T p.Arg1036Ter stop_gained De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.3178C>T p.Arg1060Trp missense_variant Familial Maternal - 33004838 Wang T et al. (2020)
c.5560G>A p.Val1854Ile missense_variant Unknown - Simplex 35205231 Gerges P et al. (2022)
c.3737C>A p.Ser1246Ter stop_gained De novo - Not simplex 32094338 Husson T , et al. (2020)
c.3106C>T p.Arg1036Ter stop_gained De novo - Multiplex 29305346 Koboldt DC , et al. (2018)
c.1083-1G>A - splice_site_variant De novo - Multiplex 37506195 Cirnigliaro M et al. (2023)
c.1422dup p.Glu475Ter frameshift_variant De novo - - 23383720 Bainbridge MN , et al. (2013)
c.3106C>T p.Arg1036Ter stop_gained De novo - - 35322241 Brea-Fernández AJ et al. (2022)
c.4399C>T p.Arg1467Ter stop_gained De novo - - 35322241 Brea-Fernández AJ et al. (2022)
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.3464C>A p.Ser1155Ter stop_gained Unknown - Simplex 37541188 Sanchis-Juan A et al. (2023)
c.4400_4403dup p.Pro1470AsnfsTer4 frameshift_variant De novo - - 37007974 Hu C et al. (2023)
c.1311_1315dup p.Ser439TrpfsTer7 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1219del p.Ser407AlafsTer2 frameshift_variant De novo - - 27901041 Kuechler A , et al. (2016)
c.3494_3495del p.Cys1165Ter frameshift_variant De novo - - 27901041 Kuechler A , et al. (2016)
c.2153C>T p.Pro718Leu 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.1579C>T p.Gln527Ter stop_gained Unknown - Simplex 37799141 Amerh S Alqahtani et al. (2023)
c.1118_1128dup p.Asn377LeufsTer36 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1982_1985del p.Lys661ThrfsTer15 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.3753_3756del p.Glu1251AspfsTer4 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.1897_1898del p.Gln633ValfsTer13 frameshift_variant De novo - - 34800434 Chen S et al. (2021)
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.1491dup p.Asn498Ter frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.6200_6201del p.Leu2067GlnfsTer10 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.2094dup p.Pro699ThrfsTer5 frameshift_variant De novo - Simplex 30564305 Guo H , et al. (2018)
c.4330C>T p.Arg1444Ter stop_gained Unknown Not maternal - 26647312 Srivastava A , et al. (2015)
c.1448dup p.Thr484AsnfsTer5 frameshift_variant De novo - - 26647312 Srivastava A , et al. (2015)
c.1897_1898del p.Gln633ValfsTer13 frameshift_variant De novo - - 31031587 Xiong J , et al. (2019)
c.3006del p.Arg1004GlufsTer21 frameshift_variant De novo - - 31180560 Wayhelova M , et al. (2019)
c.2965C>T p.Arg989Trp missense_variant Familial Maternal Simplex 28785287 Giri D , et al. (2017)
c.1088del p.Gly363AlafsTer8 frameshift_variant De novo - Simplex 36973392 Miyake N et al. (2023)
c.4890_4893del p.Lys1631AsnfsTer3 frameshift_variant De novo - - 36980980 Spataro N et al. (2023)
c.3078G>C p.Lys1026Asn missense_variant Familial Paternal Simplex 28785287 Giri D , et al. (2017)
c.4211_4212del p.Thr1404ArgfsTer23 frameshift_variant Unknown - - 34615535 Mahjani B et al. (2021)
c.4072_4073del p.Val1358LeufsTer8 frameshift_variant De novo - - 27901041 Kuechler A , et al. (2016)
c.1485_1488dup p.Asp497Ter frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.4219_4220del p.Leu1407GlyfsTer20 frameshift_variant De novo - - 28333917 Vissers LE , et al. (2017)
c.5970_5973dup p.Pro1992IlefsTer10 frameshift_variant De novo - - 31452935 Feliciano P et al. (2019)
c.3827_3830dup p.Asn1278LeufsTer2 frameshift_variant De novo - - 39039281 Axel Schmidt et al. (2024)
c.4839_4890del p.Met1614LysfsTer4 frameshift_variant De novo - - 39039281 Axel Schmidt et al. (2024)
c.1201del p.Ala401GlnfsTer8 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.4172_4173del p.Val1391GlufsTer8 frameshift_variant De novo - Simplex 30564305 Guo H , et al. (2018)
c.4143dup p.Gln1382ThrfsTer18 frameshift_variant De novo - Multiplex 28990276 Zhao JJ , et al. (2017)
c.1082dup p.Leu362AlafsTer23 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.3355dup p.His1119ProfsTer7 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.2396C>T p.Ser799Phe missense_variant Familial Paternal Simplex 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.4170dup p.Val1391CysfsTer9 frameshift_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.1978_1981del p.Asp660AsnfsTer16 frameshift_variant De novo - - 23383720 Bainbridge MN , et al. (2013)
c.3178dup p.Arg1060ProfsTer50 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.4180_4181del p.Ala1394ProfsTer5 frameshift_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.3407A>G p.Lys1136Arg missense_variant Familial Paternal 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.6724G>T p.Val2242Leu missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.4376del p.Gly1459AlafsTer7 frameshift_variant Unknown - Simplex 37541188 Sanchis-Juan A et al. (2023)
c.6737T>C p.Val2246Ala missense_variant Familial Paternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.1627_1628del p.Leu543TyrfsTer12 frameshift_variant De novo - - 33739554 Taşkıran EZ et al. (2021)
c.3127_3128dup p.Gly1045ValfsTer99 frameshift_variant De novo - - 28100473 Balasubramanian M , et al. (2017)
c.1897_1898del p.Gln633ValfsTer13 frameshift_variant De novo - Simplex 24044690 Dinwiddie DL , et al. (2013)
c.704dup p.Ser236ValfsTer12 frameshift_variant Familial Paternal Multiplex 31398340 Ruzzo EK , et al. (2019)
c.6697_6710dup p.Ser2238ThrfsTer3 frameshift_variant Unknown - Multiplex 29628764 Verhoeven W , et al. (2018)
c.4888_4892del p.Gln1630ArgfsTer14 frameshift_variant Unknown - Simplex 31038196 Callaghan DB , et al. (2019)
c.2992_2995del p.Glu998LysfsTer26 frameshift_variant De novo - - 28431838 Contreras-Capetillo SN , et al. (2017)
c.5092_5096delinsTACAACAAACTCCGG p.Gly1698TyrfsTer7 frameshift_variant De novo - - 35982159 Zhou X et al. (2022)
c.4462_4465del p.Thr1488SerfsTer17 frameshift_variant Familial Paternal Multiplex 37460657 Bartolomaeus T et al. (2023)
Common Variants  

No common variants reported.

SFARI Gene score
1S

High Confidence, Syndromic

Score Delta: Score remained at 1S

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.

S

Syndromic

See all Category S Genes

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."

4/1/2021
1
icon
1

Score remained at 1

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).

Reports Added
[Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability2021]
1/1/2021
1
icon
1

Score remained at 1

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).

Reports Added
[Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report2020]
10/1/2020
1
icon
1

Score remained at 1

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).

Reports Added
[Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020]
7/1/2020
1
icon
1

Score remained at 1

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).

Reports Added
[Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report2020]
1/1/2020
1
icon
1

Score remained at 1

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).

Reports Added
[Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism2020] [Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.2020]
10/1/2019
1S
icon
1

Score remained at 1

New Scoring Scheme
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).

Reports Added
[Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes2019] [New Scoring Scheme]
7/1/2019
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).

Reports Added
[Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.2019] [Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
4/1/2019
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).

Reports Added
[Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.2019] [Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.2019]
1/1/2019
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).

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

Reports Added
[Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.2017] [Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.2017]
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).

Reports Added
[Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.2017]
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.

Reports Added
[De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.2013] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.2013] [De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.2016] [Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.2016] [Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 ...2017] [Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder2017] [A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.2017] [Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.2017] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]
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.

Reports Added
[Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 ...2017]
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

Reports Added
[Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.2016]
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

Reports Added
[De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.2013] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.2013] [De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.2016]
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

Reports Added
[De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.2013] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.2013] [De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015]
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

Reports Added
[Synaptic, transcriptional and chromatin genes disrupted in autism.2014]
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.
Original Source
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
Original Source
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
Original Source
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).
Original Source
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.
Original Source
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.
Original Source
Interactome
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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