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Human Gene Module / Chromosome 4 / ANK2

ANK2Ankyrin 2, neuronal

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
12 / 13
Rare Variants / Common Variants
74 / 0
Aliases
ANK2, ANK-2,  LQT4,  brank-2
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
4q25-q26
Associated Disorders
-
Relevance to Autism

A total of three de novo loss-of-function (LoF) variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014 (PMID 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified ANK2 as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). 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).

Molecular Function

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. This gene is associated with Long QT syndrome 4 (LQT4) [MIM:600919], a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias.

External Links
Gene CardPubMed
Human
Entrez GeneOMIMUniProtHumanBase
Mouse
Entrez GeneMouse Genome Informatics
Reports related to ANK2 (13 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De novo gene disruptions in children on the autistic spectrum. Iossifov I , et al. (2012) Yes -
2 Recent Recommendation Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Willsey AJ , et al. (2013) Yes -
3 Recent Recommendation Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
4 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
5 Support Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014) No -
6 Support Whole-genome sequencing of quartet families with autism spectrum disorder. Yuen RK , et al. (2015) Yes -
7 Support Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015) Yes -
8 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
9 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
10 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
11 Support Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling KM , et al. (2017) Yes -
12 Support Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Li J , et al. (2017) Yes -
13 Support Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Guo H , et al. (2018) Yes -
Rare Variants   (74)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
G/A - splice_site_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3007C>T p.Arg1003Ter stop_gained De novo - Simplex 30564305 Guo H , et al. (2018)
c.5329G>C p.Val1777Leu missense_variant De novo - Simplex 28831199 Li J , et al. (2017)
c.2683C>T p.Arg895Ter stop_gained De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.2968C>T p.Arg990Ter stop_gained De novo - Simplex 24267886 Willsey AJ , et al. (2013)
c.7999G>A p.Glu2667Lys missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.9173G>T p.Arg3058Leu missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.9856G>A p.Glu3286Lys missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.2500C>T p.Arg834Ter stop_gained Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.2944C>T p.Arg982Ter stop_gained Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
G>A p.Asn3521Tyr missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.10645C>T p.Arg3549Cys missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.5207C>G p.Ser1736Ter stop_gained Unknown - Multiplex 28263302 C Yuen RK , et al. (2017)
c.3262C>T p.Arg1088Ter stop_gained De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.1118C>T p.Ala373Val missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.2930G>A p.Arg977Gln missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.5530C>T p.Pro1844Ser missense_variant De novo - Simplex 25961944 Krumm N , et al. (2015)
del(T) - frameshift_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.4764delT p.Gln1589Lysfs frameshift_variant De novo - - 28554332 Bowling KM , et al. (2017)
c.166G>A p.Val56Met missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.11683G>A p.Val3895Met missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.9055A>G p.Met3019Val missense_variant De novo - Simplex 28263302 C Yuen RK , et al. (2017)
c.883A>C p.Ile295Leu missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.899G>A p.Arg300Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.10286A>T p.Glu3429Val missense_variant De novo - Multiplex 25621899 Yuen RK , et al. (2015)
c.2421C>G p.Ile807Met missense_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.2104G>A p.Ala702Thr missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.2945G>A p.Arg982Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4139C>G p.Pro1380Arg missense_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.3011G>A p.Gly1004Ala missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3034A>C p.Ser1012Arg missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3092C>A p.Pro1031Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3539A>G p.Gln1180Arg missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3959A>G p.Lys1320Arg missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4049C>T p.Thr1350Met missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4294G>T p.Ala1432Ser missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4483C>T p.Arg1495Trp missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.5243G>A p.Arg1748Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.5392G>A p.Gly1798Arg missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6535G>A p.Gly2179Ser missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6542C>T p.Pro2181Leu missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.7228G>C p.Glu2410Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.9284C>T p.Thr3095Ile missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.9298C>A p.Pro3100Thr missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.11650G>A p.Glu3884Lys missense_variant Unknown Not maternal - 27824329 Wang T , et al. (2016)
p.7326delG p.Arg2609fs frameshift_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.11807A>G p.Tyr3936Cys missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1103C>G p.Ala368Gly missense_variant Familial Maternal Simplex 30564305 Guo H , et al. (2018)
c.1574C>T p.Ala525Val missense_variant Familial Maternal Simplex 30564305 Guo H , et al. (2018)
c.2455G>A p.Glu819Lys missense_variant Familial Paternal Simplex 30564305 Guo H , et al. (2018)
c.310C>T p.Arg104Ter stop_gained Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.11650G>A p.Glu3884Lys missense_variant Familial Maternal Simplex 30564305 Guo H , et al. (2018)
c.11717G>A p.Arg3906Gln missense_variant Familial Maternal Multiplex 23999528 Toma C , et al. (2013)
c.853G>A p.Asp285Asn missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.899G>A p.Arg300Gln missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.1073G>T p.Arg358Leu missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.1315A>G p.Thr439Ala missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.1912T>A p.Thr638Ala missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.8797del p.Ser2933ProfsTer40 frameshift_variant Unknown Not maternal - 27824329 Wang T , et al. (2016)
c.2998T>C p.Ser1000Pro missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.3001T>C p.Ser1001Pro missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.3670G>A p.Val1224Ile missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.3971C>T p.Leu1324Phe missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.4592T>A p.Leu1522Gln missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.4837G>A p.Asp1613Asn missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5159C>T p.Ala1720Val missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5173G>A p.Glu1725Lys missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5243G>A p.Arg1748Gln missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.9086A>G p.Glu3029Gly missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.10062A>C p.Arg3354Ser missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.3173G>A p.Arg1058Gln missense_variant Familial Maternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.4579C>G p.Leu1527Val missense_variant Familial Maternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.3320A>G p.Glu1107Gly missense_variant De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014)
c.5552C>T p.Ser1851Leu missense_variant Familial Maternal (n=1), paternal (n=1) Simplex 25363760 De Rubeis S , et al. (2014)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

1

Score Delta: Score remained at 1.1

criteria met
See SFARI Gene'scoring criteria
1

High Confidence

See all Category 1 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

10/1/2017
1
icon
1

Score remained at 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ? 0.01, meaning that this gene had a ? 99% chance of being a true autism gene (PMID 25363760). 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).

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

Score remained at 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was recently identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). 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).

Reports Added
[De novo gene disruptions in children on the autistic spectrum.2012] [Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.2013] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [The contribution of de novo coding mutations to autism spectrum disorder.2014] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Excess of rare, inherited truncating mutations in autism.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016] [Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.2017] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]
10/1/2016
1
icon
1

Score remained at 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was recently identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). 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).

Reports Added
[De novo genic mutations among a Chinese autism spectrum disorder cohort.2016]
1/1/2016
1
icon
1

Score remained at 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was recently identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). 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).

Reports Added
[De novo gene disruptions in children on the autistic spectrum.2012] [Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.2013] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [The contribution of de novo coding mutations to autism spectrum disorder.2014] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Excess of rare, inherited truncating mutations in autism.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015]
4/1/2015
1
icon
1

Score remained at 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was recently identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

Reports Added
[Excess of rare, inherited truncating mutations in autism.2015]
1/1/2015
1
icon
1

Score remained at 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was recently identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

Reports Added
[Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Large-scale discovery of novel genetic causes of developmental disorders.2014]
10/1/2014
3
icon
1

Decreased from 3 to 1

Description

A total of three de novo LoF variants in the ANK2 gene have been identified in ASD probands from the Simons Simplex Collection (PMIDs 22542183, 24267886, 25363768), while a fourth de novo LoF in this gene was recently identified in an ASD proband from the Autism Sequencing Consortium (PMID 25363760). 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 ANK2 as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).

Reports Added
[Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [The contribution of de novo coding mutations to autism spectrum disorder.2014]
7/1/2014
No data
icon
3

Increased from No data to 3

Description

Two de novo LGD variants in the ANK2 gene have been identified in simplex ASD cases from the Simons Simplex Collection (Iossifov et al., 2012; Willsey et al., 2013).

4/1/2014
No data
icon
3

Increased from No data to 3

Description

Two de novo LGD variants in the ANK2 gene have been identified in simplex ASD cases from the Simons Simplex Collection (Iossifov et al., 2012; Willsey et al., 2013).

Krishnan Probability Score

Score 0.7658477418814

Ranking 9/25841 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 0.99999999999981

Ranking 30/18225 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 0.997

Ranking 11/239 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 1.3489461142824E-5

Ranking 8/18665 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 106

Ranking 7/461 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 0.21071291839134

Ranking 4097/20870 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
CNVs associated with ANK2(1 CNVs)
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4q25-q26 6 Duplication 8  /  6
External PIN Data
BioGRIDHuman Protein Reference Database
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
ACOT7 acyl-CoA thioesterase 7 Human Protein Binding 11332 O00154
C14ORF104 Protein kintoun Human Protein Binding 55172 Q9NVR5-2
CCT2 chaperonin containing TCP1, subunit 2 (beta) Human Protein Binding 10576 P78371
CHL1 cell adhesion molecule with homology to L1CAM (close homolog of L1) Human Protein Binding 10752 O00533
CRNKL1 crooked neck pre-mRNA splicing factor-like 1 (Drosophila) Human Protein Binding 51340 Q9BZJ0
DGUOK deoxyguanosine kinase Human Protein Binding 1716 E5KSL5
DMD dystrophin Human Protein Binding 1756 P11532
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 Human Protein Binding 3337 P25685
EPB42 erythrocyte membrane protein band 4.2 Human Protein Binding 2038 P16452
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) Human Protein Binding 10160 Q9Y4F1
FTSJ3 FtsJ homolog 3 (E. coli) Human Protein Binding 117246 Q8IY81
HAX1 HCLS1 associated protein X-1 Human Protein Binding 10456 O00165
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor Human Protein Binding 55662 Q9NWT6
IP3R-3 inositol 1,4,5-trisphosphate receptor, type 3 Rat Protein Binding 25679 Q63269
L1CAM L1 cell adhesion molecule Rat Protein Binding 50687 Q05695
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 Human Protein Binding 9479 Q6NUQ9
MYO1D myosin ID Human Protein Binding 4642 O94832
NDEL1 nudE nuclear distribution E homolog (A. nidulans)-like 1 Human Protein Binding 81565 Q9GZM8
NFASC neurofascin Rat Protein Binding 116690 P97685
NRCAM neuronal cell adhesion molecule Rat Protein Binding 497815 Q6PW34
NUFIP1 Nuclear FMRP Interacting Protein 1 Human Protein Binding 26747 Q9UHK0
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Human Protein Binding 84033 Q5VST9
PALM2 paralemmin 2 Human Protein Binding 114299 Q8IXS6
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 Human Protein Binding 9771 A8MQ07
SIGMAR1 sigma non-opioid intracellular receptor 1 Rat Protein Binding 29336 Q9R0C9
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 Rat Protein Binding 29715 Q01728
SNCA synuclein, alpha (non A4 component of amyloid precursor) Human Protein Binding 6622 P37840
SPTAN1 spectrin, alpha, non-erythrocytic 1 Rat Protein Binding 64159 P16086
SPTB spectrin, beta, erythrocytic Rat Protein Binding 314251 Q6XDA0
SPTBN1 spectrin, beta, non-erythrocytic 1 Human Protein Binding 6711 Q01082
TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa Human Protein Binding 6880 Q16594
TNIK TRAF2 and NCK interacting kinase Human Protein Binding 23043 Q9UKE5
TP53 tumor protein p53 Human Protein Binding 7157 P04637
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