Human Gene Module / Chromosome X / DMD

DMDdystrophin (muscular dystrophy, Duchenne and Becker types)

SFARI Gene Score
S
Syndromic Syndromic
Autism Reports / Total Reports
18 / 40
Rare Variants / Common Variants
28 / 5
Aliases
DMD, BMD,  CMD3B,  DXS142,  DXS164,  DXS206,  DXS230,  DXS239,  DXS268,  DXS269,  DXS270,  DXS2 72
Associated Syndromes
-
Chromosome Band
Xp21.2-p21.1
Associated Disorders
ADHD, ID, ASD, EPS
Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In addition, studies have found positive genetic associations between the DMD gene and ASD in US and European population samples (Wang et al., 2009; Chung et al., 2011). Also, rare mutations involving the DMD gene have been identified in individuals with ASD (Pinto et al., 2010).

Molecular Function

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy.

SFARI Genomic Platforms
Reports related to DMD (40 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Association of Duchenne muscular dystrophy with autism spectrum disorder Wu JY , et al. (2006) No ASD
2 Recent Recommendation Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs Sampaolesi M , et al. (2006) No -
3 Recent Recommendation PTC124 targets genetic disorders caused by nonsense mutations Welch EM , et al. (2007) No -
4 Recent Recommendation Cognitive and psychological profile of males with Becker muscular dystrophy Young HK , et al. (2007) No -
5 Recent Recommendation Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder Hendriksen JG and Vles JS (2008) No -
6 Recent Recommendation An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan Ayalon G , et al. (2008) No -
7 Positive Association Common genetic variants on 5p14.1 associate with autism spectrum disorders Wang K , et al. (2009) Yes -
8 Recent Recommendation Association of autistic spectrum disorders with dystrophinopathies Hinton VJ , et al. (2009) No -
9 Support Functional impact of global rare copy number variation in autism spectrum disorders Pinto D , et al. (2010) Yes -
10 Positive Association An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males Chung RH , et al. (2011) Yes -
11 Support Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies Willemsen MH , et al. (2012) No ASD, ADHD
12 Positive Association A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale Connolly JJ , et al. (2012) Yes -
13 Recent Recommendation Wnt7a treatment ameliorates muscular dystrophy von Maltzahn J , et al. (2012) No -
14 Support A discovery resource of rare copy number variations in individuals with autism spectrum disorder Prasad A , et al. (2013) Yes -
15 Support Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders Lim ET , et al. (2013) Yes -
16 Support Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders Nava C , et al. (2013) Yes ID
17 Support Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Jiang YH , et al. (2013) Yes -
18 Support A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy de Brouwer AP , et al. (2013) No -
19 Support Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder Koshimizu E , et al. (2013) Yes ID, epilepsy
20 Support Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders Kenny EM , et al. (2013) Yes -
21 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
22 Support Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Redin C , et al. (2014) No -
23 Positive Association The dystrophin gene and cognitive function in the general population Vojinovic D , et al. (2014) No -
24 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) No -
25 Recent Recommendation Integrated systems analysis reveals a molecular network underlying autism spectrum disorders Li J , et al. (2015) Yes -
26 Support Whole-genome sequencing of quartet families with autism spectrum disorder Yuen RK , et al. (2015) Yes -
27 Recent Recommendation Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy Banihani R , et al. (2015) No -
28 Recent Recommendation Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system Ricotti V , et al. (2015) No -
29 Recent Recommendation Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations Ricotti V , et al. (2015) No -
30 Support Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Karaca E , et al. (2015) No Microcephaly
31 Support Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior Doan RN , et al. (2016) Yes -
32 Support Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder Krupp DR , et al. (2017) Yes -
33 Support Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Schluth-Bolard C , et al. (2019) No ID
34 Support Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients Balicza P , et al. (2019) Yes Duchenne muscular dystrophy
35 Support Genetic landscape of autism spectrum disorder in Vietnamese children Tran KT et al. (2020) Yes -
36 Highly Cited The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein Koenig M , et al. (1988) No -
37 Highly Cited Dystrophin: the protein product of the Duchenne muscular dystrophy locus Hoffman EP , et al. (1987) No -
38 Support - Simone M et al. (2021) Yes Epilepsy/seizures
39 Support - Du X et al. (2021) No -
40 Highly Cited A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin Ervasti JM and Campbell KP (1993) No -
Rare Variants   (28)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss - - - 16417872 Wu JY , et al. (2006)
- - copy_number_loss Unknown - - 34773222 Du X et al. (2021)
- - copy_number_loss Unknown - - 34640386 Simone M et al. (2021)
- - copy_number_gain Unknown - Unknown 23275889 Prasad A , et al. (2013)
- - copy_number_loss Unknown - Unknown 23275889 Prasad A , et al. (2013)
c.8-106532dup - intron_variant - - Unknown 27667684 Doan RN , et al. (2016)
- - copy_number_gain Familial Maternal - 22796527 Willemsen MH , et al. (2012)
- - copy_number_loss Familial Maternal Simplex 23632794 Nava C , et al. (2013)
- - copy_number_loss Familial Maternal Unknown 23275889 Prasad A , et al. (2013)
- - copy_number_gain Familial Maternal Multiplex 20531469 Pinto D , et al. (2010)
- - copy_number_loss Familial Maternal Multiplex 20531469 Pinto D , et al. (2010)
- - copy_number_loss Familial Maternal Multiplex 25621899 Yuen RK , et al. (2015)
- - copy_number_loss Familial Maternal Multiplex 26539891 Karaca E , et al. (2015)
c.10238+1G>A - splice_site_variant Unknown - Unknown 23352160 Lim ET , et al. (2013)
c.2971G>C p.Glu991Gln missense_variant Unknown - Unknown 25549968 Li J , et al. (2015)
- - complex_structural_alteration De novo NA - 30923172 Schluth-Bolard C , et al. (2019)
c.8713C>T p.Arg2905Ter stop_gained Familial Maternal - 31134136 Balicza P , et al. (2019)
c.4917G>A p.Thr1639= synonymous_variant De novo NA Simplex 28867142 Krupp DR , et al. (2017)
c.2473A>G p.Met825Val missense_variant Unknown - Unknown 24066114 Koshimizu E , et al. (2013)
c.4187C>T p.Ala1396Val splice_site_variant Unknown - Unknown 24126926 Kenny EM , et al. (2013)
c.3479A>G p.Asn1160Ser missense_variant Unknown - Unknown 24066114 Koshimizu E , et al. (2013)
c.1138C>T p.His380Tyr missense_variant Familial Maternal Simplex 32193494 Tran KT et al. (2020)
c.2877A>C p.Glu959Asp missense_variant Familial Maternal Simplex 32193494 Tran KT et al. (2020)
c.5477G>T p.Arg1826Ile missense_variant Familial Maternal Simplex 23849776 Jiang YH , et al. (2013)
c.5485C>G p.Gln1829Glu missense_variant Familial Maternal Multiplex 24690944 Brett M , et al. (2014)
c.10889del p.Arg3630GlnfsTer27 frameshift_variant Familial Maternal Multiplex 25167861 Redin C , et al. (2014)
c.8452G>A p.Asp2818Asn missense_variant De novo NA Unknown 25533962 Deciphering Developmental Disorders Study (2014)
c.9711_9713del p.Leu3238del inframe_deletion Familial Maternal Multi-generational 23900271 de Brouwer AP , et al. (2013)
Common Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.8-107769T>C;c.31+83313T>C;c.19+178T>C;c.-339+94T>C A/G intron_variant - - - 25227141 Vojinovic D , et al. (2014)
c.2144+4944G>A;c.2168+4944G>A;c.2156+4944G>A;c.1799+4944G>A;c.2039+4944G>A T/C intron_variant - - - 22050706 Chung RH , et al. (2011)
c.3408+1266T>C;c.3432+1266T>C;c.3420+1266T>C;c.3063+1266T>C;c.3303+1266T>C;c.1062+1266T>C A/G intron_variant - - - 19404256 Wang K , et al. (2009)
c.3408+1266T>C;c.3432+1266T>C;c.3420+1266T>C;c.3063+1266T>C;c.3303+1266T>C;c.1062+1266T>C - intron_variant - - - 22935194 Connolly JJ , et al. (2012)
c.6439C>T;c.6463C>T;c.6451C>T;c.6094C>T;c.2440C>T;c.2431C>T;c.-918C>T;c.6334C>T;c.6325C>T;c.4093C>T p.Arg2147Trp missense_variant - - - 25227141 Vojinovic D , et al. (2014)
SFARI Gene score
S

Syndromic

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

Score Delta: Score remained at S

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."

4/1/2020
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

10/1/2019
S
icon
S

Score remained at S

New Scoring Scheme
Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

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

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

4/1/2019
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

10/1/2017
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

10/1/2016
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

1/1/2016
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

Reports Added
[Common genetic variants on 5p14.1 associate with autism spectrum disorders.2009] [Functional impact of global rare copy number variation in autism spectrum disorders.2010] [An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.2011] [A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.2013] [Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.2013] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.2013] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [The dystrophin gene and cognitive function in the general population.2014] [Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...2012] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Association of Duchenne muscular dystrophy with autism spectrum disorder.2006] [A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.2013] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.1988] [Dystrophin: the protein product of the Duchenne muscular dystrophy locus.1987] [A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.1993] [Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs.2006] [PTC124 targets genetic disorders caused by nonsense mutations.2007] [Cognitive and psychological profile of males with Becker muscular dystrophy.2007] [Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spe...2008] [An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan.2008] [Association of autistic spectrum disorders with dystrophinopathies.2009] [Wnt7a treatment ameliorates muscular dystrophy.2012] [Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.2015] [Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.2015] [Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.2015] [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.2015]
7/1/2015
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

Reports Added
[Common genetic variants on 5p14.1 associate with autism spectrum disorders.2009] [Functional impact of global rare copy number variation in autism spectrum disorders.2010] [An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.2011] [A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.2013] [Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.2013] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.2015] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.2013] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [The dystrophin gene and cognitive function in the general population.2014] [Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...2012] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Association of Duchenne muscular dystrophy with autism spectrum disorder.2006] [A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.2013] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.1988] [Dystrophin: the protein product of the Duchenne muscular dystrophy locus.1987] [A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.1993] [Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs.2006] [PTC124 targets genetic disorders caused by nonsense mutations.2007] [Cognitive and psychological profile of males with Becker muscular dystrophy.2007] [Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spe...2008] [An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan.2008] [Association of autistic spectrum disorders with dystrophinopathies.2009] [Wnt7a treatment ameliorates muscular dystrophy.2012] [Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.2015] [Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.2015]
1/1/2015
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

10/1/2014
S
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

4/1/2014
No data
icon
S

Score remained at S

Description

Muscular dystrophy patients reported to have symptoms of autism. There is little if any evidence implicating variation in DMD in idiopathic autism. A recent study by Pagnamenta et al. reported a duplication of exons 31-44 in a child ascertained for autism, but not enough information is provided to know if the child developed muscular dystrophy.

Krishnan Probability Score

Score 0.59802942073656

Ranking 421/25841 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 0.99999999980353

Ranking 79/18225 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
Sanders TADA Score

Score 0.95085432302808

Ranking 18654/18665 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).
Zhang D Score

Score 0.017497291663294

Ranking 8140/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
ANK2 ankyrin 2, neuronal Human Protein Binding 287 Q01484
Cadps Ca2+-dependent secretion activator Mouse Protein Binding 27062 Q80TJ1
CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 Human Protein Binding 8727 Q9UBT7
DTNA dystrobrevin, alpha Human Protein Binding 1837 Q9Y4J8
DTNB dystrobrevin, beta Human Protein Binding 1838 B7Z6A9
FASLG Fas ligand (TNF superfamily, member 6) Human Protein Binding 356 P25445
HAUS4 HAUS augmin-like complex subunit 4 Human Protein Binding 54930 Q9H6D7-2
IFIT5 interferon-induced protein with tetratricopeptide repeats 5 Human Protein Binding 24138 Q13325
Kcnj12 potassium inwardly-rectifying channel, subfamily J, member 12 Rat Protein Binding 117052 P52188
KCNJ4 potassium inwardly-rectifying channel, subfamily J, member 4 Human Protein Binding 3761 P48050
LONRF3 LON peptidase N-terminal domain and ring finger 3 Human Protein Binding 79836 Q496Y0
LPAR6 Lysophosphatidic acid receptor 6 Human Protein Binding 10161 P43657
LRRC8E leucine rich repeat containing 8 family, member E Human Protein Binding 80131 Q6NSJ5
MAP3K5 mitogen-activated protein kinase kinase kinase 5 Human Protein Binding 4217 Q99683
MIR146B microRNA 146b Human Direct Regulation 574447
MIR31 microRNA 31 Human Direct Regulation 407035 N/A
MIR374A microRNA 374a Human Direct Regulation 442919 N/A
MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) Human Protein Binding 51678 Q9NZW5
NOS1 nitric oxide synthase 1 (neuronal) Human Protein Binding 4842 A0PJJ7
Pgm5 phosphoglucomutase 5 Mouse Protein Binding 226041 Q8BZF8
Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) Mouse Protein Binding 20391 P82350
Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein) Mouse Protein Binding 24051 P82349
Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein) Mouse Protein Binding 24052 P82347
Sgcz sarcoglycan zeta Mouse Protein Binding 244431 Q8BX51
SIRT2 sirtuin 2 Human Protein Binding 22933 Q8IXJ6
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) Human Protein Binding 6641 Q13884
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) Human Protein Binding 6645 Q13425
SNTG1 syntrophin, gamma 1 Human Protein Binding 54212 Q9NSN8
SNTG2 syntrophin, gamma 2 Human Protein Binding 54221 Q9NY99
SYNM synemin, intermediate filament protein Human Protein Binding 23336 O15061
Tnnt2 troponin T2, cardiac Mouse Protein Binding 21956 P50752
WDR54 WD repeat-containing protein 54 Human Protein Binding 84058 Q9H977
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