Human Gene Module / Chromosome X / ATRX

ATRXalpha thalassemia/mental retardation syndrome X-linked

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
14 / 33
Rare Variants / Common Variants
45 / 0
Aliases
ATRX, RP5-875J14.1,  ATR2,  JMS,  MGC2094,  MRXHF1,  RAD54,  RAD54L,  SFM1,  SHS,  XH2,  XNP,  ZNF-HX
Associated Syndromes
-
Chromosome Band
Xq21.1
Associated Disorders
ASD, EPS
Relevance to Autism

A rare mutation in the ATRX gene has been identified with ASD (Gong et al., 2008).

Molecular Function

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.

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 ATRX (33 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Alpha thalassaemia-mental retardation, X linked Gibbons R (2006) No Epilepsy, ASD
2 Support Analysis of X chromosome inactivation in autism spectrum disorders Gong X , et al. (2008) Yes -
3 Support Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 Jensen LR , et al. (2011) No -
4 Support Using whole-exome sequencing to identify inherited causes of autism Yu TW , et al. (2013) Yes -
5 Support Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel Brett M , et al. (2014) Yes MCA
6 Recent Recommendation Rosiglitazone REMS restrictions removed Traynor K (2014) No -
7 Support Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Redin C , et al. (2014) No -
8 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) Yes -
9 Support ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing Moncini S , et al. (2015) No -
10 Support Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Karaca E , et al. (2015) No Microcephaly
11 Support Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia Bouazzi H , et al. (2016) No Stereotypies, absent speech
12 Support Genomic diagnosis for children with intellectual disability and/or developmental delay Bowling KM , et al. (2017) No Hypotonia, spasticity
13 Support Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients Chrot E , et al. (2017) No -
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 Pool-Seq in neurodevelopmental disorders Popp B , et al. (2017) No Hypotonia
16 Support Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population Monies D , et al. (2019) No Stereotypies
17 Support Characterization of intellectual disability and autism comorbidity through gene panel sequencing Aspromonte MC , et al. (2019) Yes -
18 Support Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder Munnich A , et al. (2019) Yes -
19 Support Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019) Yes -
20 Support Genetic landscape of autism spectrum disorder in Vietnamese children Tran KT et al. (2020) Yes -
21 Support Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability Chevarin M et al. (2020) No Marfanoid habitus
22 Support - Rodin RE et al. (2021) Yes -
23 Support - Mitani T et al. (2021) No -
24 Support - Mahjani B et al. (2021) Yes -
25 Support - Verberne EA et al. (2022) No -
26 Support - López-Garrido MP et al. (2022) Yes -
27 Support - Giovenino C et al. (2023) No -
28 Support - Tillotson R et al. (2023) No -
29 Support - Sanchis-Juan A et al. (2023) No ASD, epilepsy/seizures
30 Support - Sheth F et al. (2023) Yes DD, ID
31 Support - et al. () Yes -
32 Support Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome) Gibbons RJ , et al. (1995) No -
33 Support Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia Villard L , et al. (1996) No Autistic behavior
Rare Variants   (45)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss - - - 7697714 Gibbons RJ , et al. (1995)
c.4635C>T p.Thr1545= stop_gained - - - 7697714 Gibbons RJ , et al. (1995)
c.4641G>T p.Glu1530Ter stop_gained - - - 7697714 Gibbons RJ , et al. (1995)
c.3729A>G p.Gln1243= missense_variant - - - 7697714 Gibbons RJ , et al. (1995)
c.2302A>G p.Lys768Glu missense_variant - - - 7697714 Gibbons RJ , et al. (1995)
c.2316T>C p.Cys755Arg missense_variant - - - 7697714 Gibbons RJ , et al. (1995)
c.3058A>G p.Asn1002Ser missense_variant - - - 7697714 Gibbons RJ , et al. (1995)
c.3583A>T p.Arg1195Trp missense_variant - - - 7697714 Gibbons RJ , et al. (1995)
c.3967A>G p.Tyr1305Cys missense_variant - - - 7697714 Gibbons RJ , et al. (1995)
c.5282T>C p.Met1761Thr missense_variant - - - 21267006 Jensen LR , et al. (2011)
- - copy_number_loss Familial Maternal Simplex 36879111 Giovenino C et al. (2023)
c.533T>C p.Val178Ala missense_variant Unknown - - 34615535 Mahjani B et al. (2021)
c.622C>T p.Arg208Cys missense_variant - - Unknown 31130284 Monies D , et al. (2019)
c.-117C>T - stop_gained Familial Maternal Simplex 32277047 Chevarin M et al. (2020)
c.2429C>A p.Thr810Asn missense_variant - - Multiplex 7697714 Gibbons RJ , et al. (1995)
c.109C>T p.Arg37Ter stop_gained Familial Maternal - 31452935 Feliciano P et al. (2019)
c.6280G>A p.Val2094Ile missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.7253A>T p.Tyr2418Phe missense_variant Unknown - - 31209962 Aspromonte MC , et al. (2019)
c.6863G>A p.Arg2288His missense_variant Familial Maternal - 29158550 Popp B , et al. (2017)
c.109C>T p.Arg37Ter stop_gained Familial Maternal Simplex 25167861 Redin C , et al. (2014)
c.6740A>C p.His2247Pro missense_variant Familial Maternal - 31406558 Munnich A , et al. (2019)
c.1423C>T p.His475Tyr missense_variant Familial Maternal - 28554332 Bowling KM , et al. (2017)
T>A - splice_site_variant Familial Maternal Multi-generational 8644709 Villard L , et al. (1996)
c.109C>T p.Arg37Ter stop_gained Familial Maternal Multiplex 25606380 Moncini S , et al. (2015)
c.7156C>T p.Arg2386Ter stop_gained Familial Maternal Multiplex 24690944 Brett M , et al. (2014)
c.4921T>C p.Trp1641Arg missense_variant Unknown - Simplex 37541188 Sanchis-Juan A et al. (2023)
c.4031A>G p.Lys1344Arg missense_variant Familial Maternal Simplex 23352163 Yu TW , et al. (2013)
c.1972C>T p.Arg658Cys missense_variant Familial Maternal Simplex 32193494 Tran KT et al. (2020)
c.2388A>C p.Lys796Asn missense_variant Familial Maternal Simplex 34582790 Mitani T et al. (2021)
c.4244A>G p.Asn1415Ser missense_variant Familial Maternal - 31209962 Aspromonte MC , et al. (2019)
c.1676C>T p.Ser559Leu missense_variant Familial Maternal Simplex 26539891 Karaca E , et al. (2015)
c.5027G>C p.Gly1676Ala missense_variant Familial Maternal Multiplex 18361425 Gong X , et al. (2008)
c.1825C>G p.Pro609Ala missense_variant Familial Maternal Multiplex 24690944 Brett M , et al. (2014)
c.1013C>G p.Ser338Cys missense_variant Familial Maternal Multiplex 25167861 Redin C , et al. (2014)
c.308T>A p.Val103Glu missense_variant Familial Maternal Multiplex 26539891 Karaca E , et al. (2015)
c.7367_7371del p.Met2456ArgfsTer40 frameshift_variant De novo - - 35253369 Verberne EA et al. (2022)
c.1085C>T p.Thr362Ile missense_variant Familial Both parents Simplex 37543562 Sheth F et al. (2023)
c.4865C>T p.Ala1622Val missense_variant Familial Maternal Multiplex 28708303 Chrot E , et al. (2017)
c.4957-4A>G - splice_region_variant Familial Maternal Multiplex 37541188 Sanchis-Juan A et al. (2023)
c.4862C>T p.Thr1621Met missense_variant Familial Maternal Simplex 35593993 López-Garrido MP et al. (2022)
c.6740A>C p.His2247Pro missense_variant Familial Maternal Multi-generational 26997013 Bouazzi H , et al. (2016)
c.7378dup p.Tyr2460LeufsTer38 frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1565C>G p.Ser522Cys missense_variant Familial Maternal Multiplex 25533962 Deciphering Developmental Disorders Study (2014)
c.6139C>T p.Leu2047= missense_variant Familial Maternal Multi-generational 25533962 Deciphering Developmental Disorders Study (2014)
ENSG00000085224:ENST00000395603:exon20:c.T5212C:p.F1738L,ENSG00000085224:ENST00000373344:exon21:c.T5 - missense_variant De novo - - 33432195 Rodin RE et al. (2021)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

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.

1/1/2021
1
icon
1

Score remained at 1

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing2021]
4/1/2020
1
icon
1

Score remained at 1

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Genetic landscape of autism spectrum disorder in Vietnamese children2020] [Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability2020]
10/1/2019
4
icon
1

Decreased from 4 to 1

New Scoring Scheme
Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes2019] [New Scoring Scheme]
7/1/2019
4
icon
4

Decreased from 4 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.2019] [Characterization of intellectual disability and autism comorbidity through gene panel sequencing.2019] [Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.2019]
10/1/2017
4
icon
4

Decreased from 4 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.2017] [Exome Pool-Seq in neurodevelopmental disorders.2017]
7/1/2017
4
icon
4

Decreased from 4 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.2017]
4/1/2017
4
icon
4

Decreased from 4 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Analysis of X chromosome inactivation in autism spectrum disorders.2008] [Using whole-exome sequencing to identify inherited causes of autism.2013] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.2011] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.2015] [Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).1995] [Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.1996] [Alpha thalassaemia-mental retardation, X linked.2006] [Rosiglitazone REMS restrictions removed.2014] [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.2015] [Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.2016] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]
4/1/2016
4
icon
4

Decreased from 4 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Analysis of X chromosome inactivation in autism spectrum disorders.2008] [Using whole-exome sequencing to identify inherited causes of autism.2013] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.2011] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.2015] [Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).1995] [Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.1996] [Alpha thalassaemia-mental retardation, X linked.2006] [Rosiglitazone REMS restrictions removed.2014] [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.2015] [Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.2016]
1/1/2016
4
icon
4

Decreased from 4 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

Reports Added
[Analysis of X chromosome inactivation in autism spectrum disorders.2008] [Using whole-exome sequencing to identify inherited causes of autism.2013] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.2011] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.2015] [Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).1995] [Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.1996] [Alpha thalassaemia-mental retardation, X linked.2006] [Rosiglitazone REMS restrictions removed.2014] [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.2015]
7/1/2015
6
icon
4

Decreased from 6 to 4

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425). Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex families was not determined.

1/1/2015
6
icon
6

Decreased from 6 to 6

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425)

Reports Added
[Large-scale discovery of novel genetic causes of developmental disorders.2014] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.2015] [Rosiglitazone REMS restrictions removed.2014]
7/1/2014
No data
icon
6

Increased from No data to 6

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425)

4/1/2014
No data
icon
6

Increased from No data to 6

Description

Mutations in this gene are an established cause of an X-linked alpha-thalassemia / ID syndrome, with at least one autistic mutation carrier (PMID 18361425)

Reports Added
[Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014]
Krishnan Probability Score

Score 0.76534961315281

Ranking 24/25841 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 0.99999998229899

Ranking 151/18225 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
Sanders TADA Score

Score 0.94867191235614

Ranking 17779/18665 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 3

Ranking 330/461 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 0.44287572195433

Ranking 989/20870 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
Daxx Fas death domain-associated protein Mouse Protein Binding 13163 O35613
HIST1H4A histone cluster 1, H4a Human Protein Binding 8359 B2R4R0
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) Human Protein Binding 4361 P49959
RAD50 RAD50 homolog (S. cerevisiae) Human Protein Binding 10111 Q92878
WDR1 WD repeat domain 1 Human Protein Binding 9948 O75083
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