Human Gene Module / Chromosome 16 / CACNA1H

CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
16 / 35
Rare Variants / Common Variants
65 / 0
Aliases
CACNA1H, T-type Ca(V)3.2 channels,  CACNA1HB
Associated Syndromes
-
Chromosome Band
16p13.3
Associated Disorders
DD/NDD, ADHD, EP, EPS, ASD
Relevance to Autism

Rare mutations in the CACNA1H gene have been identified with autism. In one study, missense mutations in CACNA1H were found in 6 of 461 individuals with ASD (Splawski et al., 2006).

Molecular Function

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization.

External Links
Gene CardOpen Targets PlatformgnomAD browserSynGO portalPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to CACNA1H (35 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy Khosravani H , et al. (2004) No -
2 Primary CACNA1H mutations in autism spectrum disorders Splawski I , et al. (2006) Yes -
3 Recent Recommendation Molecular characterization of T-type calcium channels Perez-Reyes E (2006) No -
4 Recent Recommendation The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations Vitko I , et al. (2007) No -
5 Recent Recommendation Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants Heron SE , et al. (2007) No -
6 Recent Recommendation CaV3.2 T-type calcium channels are involved in calcium-dependent secretion of neuroendocrine prostate cancer cells Gackire F , et al. (2008) No -
7 Recent Recommendation Activation of corticotropin-releasing factor receptor 1 selectively inhibits CaV3.2 T-type calcium channels Tao J , et al. (2008) No -
8 Recent Recommendation Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy Becker AJ , et al. (2008) No -
9 Recent Recommendation Protein kinase A activity controls the regulation of T-type CaV3.2 channels by Gbetagamma dimers Hu C , et al. (2009) No -
10 Recent Recommendation A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy Powell KL , et al. (2009) No -
11 Recent Recommendation ACTH induces Cav3.2 current and mRNA by cAMP-dependent and cAMP-independent mechanisms Liu H , et al. (2010) No -
12 Support Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy Klassen T , et al. (2011) No -
13 Recent Recommendation A Ca(v)3.2/syntaxin-1A signaling complex controls T-type channel activity and low-threshold exocytosis Weiss N , et al. (2011) No -
14 Recent Recommendation Transcriptional regulation of T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and repressor element 1 (RE-1) protein-silencing transcription factor (REST) van Loo KM , et al. (2012) No -
15 Support The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
16 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) No -
17 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission Iossifov I , et al. (2015) Yes -
18 Support Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Karaca E , et al. (2015) No Microcephaly
19 Support Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms D'Gama AM , et al. (2015) Yes -
20 Support High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing Martnez F , et al. (2016) No -
21 Support Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder Takata A , et al. (2018) Yes -
22 Support Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability Han JY , et al. (2019) No Epilepsy/seizures
23 Support Expanding the Phenotypic Spectrum of CACNA1H Mutations Chourasia N , et al. (2019) No ASD, ADHD, DD
24 Support The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children Long S , et al. (2019) Yes -
25 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
26 Support Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019) Yes -
27 Support Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort da Silva Montenegro EM , et al. (2019) Yes -
28 Support - Woodbury-Smith M et al. (2022) Yes -
29 Support - Viggiano M et al. (2022) Yes DD, ID, epilepsy/seizures
30 Support - Chuan Z et al. (2022) No ID
31 Recent Recommendation - Teles E Silva AL et al. (2022) Yes -
32 Support - Zhou X et al. (2022) Yes -
33 Support - Hu C et al. (2023) Yes -
34 Support - Omri Bar et al. (2024) Yes Epilepsy/seizures
35 Support - Karen Lob et al. () Yes ADHD, ID, epilepsy/seizures
Rare Variants   (65)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.266C>T p.Pro89Leu missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.3744+1G>A - splice_site_variant De novo - - 31452935 Feliciano P et al. (2019)
c.4754G>T p.Arg1585Leu missense_variant Unknown - - 39136901 Karen Lob et al. ()
c.1274C>G p.Thr425Arg missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.6976C>T p.Leu2326Phe missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.2542G>A p.Gly848Ser missense_variant Unknown - - 31139143 Long S , et al. (2019)
c.2957C>A p.Ser986Tyr missense_variant Unknown - - 35571021 Chuan Z et al. (2022)
c.5675G>A p.Arg1892His missense_variant De novo - - 30631761 Han JY , et al. (2019)
c.3039C>T p.Ile1013%3D synonymous_variant De novo - - 35982159 Zhou X et al. (2022)
c.3558C>T p.Pro1186%3D synonymous_variant De novo - - 35982159 Zhou X et al. (2022)
c.3155-4G>A - splice_region_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.2389C>T p.Arg797Cys missense_variant De novo - - 27620904 Martnez F , et al. (2016)
c.1612C>T p.Leu538Phe missense_variant De novo - - 30686625 Chourasia N , et al. (2019)
c.2996T>C p.Met999Thr missense_variant Familial Maternal - 37007974 Hu C et al. (2023)
c.2455G>A p.Glu819Lys missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
T>C p.Ile582Thr missense_variant Familial Paternal - 35350424 Viggiano M et al. (2022)
c.6322G>A p.Ala2108Thr missense_variant De novo - - 30686625 Chourasia N , et al. (2019)
c.3433T>G p.Trp1145Gly missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.6544C>T p.Arg2182Cys missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.923G>A p.Arg308His missense_variant De novo - Multiplex 35982159 Zhou X et al. (2022)
c.2759C>T p.Thr920Met missense_variant Familial - Simplex 38256266 Omri Bar et al. (2024)
c.534C>T p.Ile178= synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.819C>T p.Thr273= synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.4445G>A p.Arg1482Gln missense_variant Familial Paternal - 31139143 Long S , et al. (2019)
c.3565C>T p.Arg1189Cys missense_variant De novo - Simplex 29346770 Takata A , et al. (2018)
c.2102C>T p.Pro701Leu missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.2153A>G p.Glu718Gly missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.2264G>A p.Gly755Asp missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.2840C>T p.Thr947Ile missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.2193G>A p.Thr731= synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.2841C>T p.Thr947= synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.4621A>G p.Ile1541Val missense_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.3008A>G p.Asn1003Ser missense_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.4913A>G p.His1638Arg missense_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.5909C>G p.Ser1970Cys missense_variant Unknown - Unknown 26637798 D'Gama AM , et al. (2015)
c.5385G>A p.Leu1795= synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.6177C>T p.Ala2059= synonymous_variant Unknown - Unknown 21703448 Klassen T , et al. (2011)
c.2421G>A p.Thr807%3D synonymous_variant Unknown - - 35205252 Woodbury-Smith M et al. (2022)
c.2051C>A p.Pro684His missense_variant Familial - Multiplex 26539891 Karaca E , et al. (2015)
c.2329C>T p.Arg777Cys missense_variant Familial Paternal - 35350424 Viggiano M et al. (2022)
c.2455G>A p.Glu819Lys missense_variant Familial Maternal - 35350424 Viggiano M et al. (2022)
c.6898A>G p.Ile2300Val missense_variant Familial - Multiplex 26539891 Karaca E , et al. (2015)
c.3335A>T p.Asp1112Val missense_variant Familial Maternal - 35350424 Viggiano M et al. (2022)
c.3583C>T p.Arg1195Trp missense_variant Familial Paternal - 35350424 Viggiano M et al. (2022)
c.4165G>A p.Ala1389Thr missense_variant Familial Maternal - 35350424 Viggiano M et al. (2022)
c.5024G>A p.Arg1675Gln missense_variant Familial Maternal - 35350424 Viggiano M et al. (2022)
c.6244C>T p.Arg2082Trp missense_variant Familial Maternal - 35350424 Viggiano M et al. (2022)
c.391G>C p.Glu131Gln missense_variant Familial Maternal - 30686625 Chourasia N , et al. (2019)
c.6926_6927del p.Glu2309AlafsTer7 frameshift_variant Unknown - - 35571021 Chuan Z et al. (2022)
c.6031-1G>A - splice_site_variant Familial Maternal Multiplex 31398340 Ruzzo EK , et al. (2019)
c.2567C>T p.Pro856Leu missense_variant Familial Paternal - 30686625 Chourasia N , et al. (2019)
c.5879C>T p.Thr1960Ile missense_variant Familial Paternal - 30686625 Chourasia N , et al. (2019)
c.2907+1G>A - splice_site_variant De novo - Simplex 31696658 da Silva Montenegro EM , et al. (2019)
c.2354A>T p.Lys785Met missense_variant Familial Maternal Simplex 35350424 Viggiano M et al. (2022)
c.2545C>T p.Pro849Ser missense_variant Familial Paternal Simplex 35350424 Viggiano M et al. (2022)
c.2704C>T p.Arg902Trp missense_variant Familial Maternal Simplex 16754686 Splawski I , et al. (2006)
c.634C>T p.Arg212Cys missense_variant Familial Maternal Multiplex 16754686 Splawski I , et al. (2006)
c.6727dup p.Asp2243GlyfsTer17 frameshift_variant Familial Maternal - 35350424 Viggiano M et al. (2022)
c.5612G>A p.Arg1871Gln missense_variant Familial Paternal Multiplex 16754686 Splawski I , et al. (2006)
c.5621C>T p.Ala1874Val missense_variant Familial Paternal Multiplex 16754686 Splawski I , et al. (2006)
c.2886G>T p.Trp962Cys missense_variant Unknown Not maternal Multiplex 16754686 Splawski I , et al. (2006)
c.1508G>A p.Arg503His missense_variant Familial Maternal Simplex 35668055 Teles E Silva AL et al. (2022)
TATCATCA>TATCA - inframe_deletion De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014)
c.6371C>T p.Pro2124Leu missense_variant Familial Maternal Multiplex (monozygotic twins) 35350424 Viggiano M et al. (2022)
c.7013C>T p.Ser2338Phe missense_variant Familial Paternal Multiplex (monozygotic twins) 35350424 Viggiano M et al. (2022)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 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.

10/1/2019
2
icon
2

Score remained at 2

New Scoring Scheme
Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Reports Added
[Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes2019] [Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.2019] [New Scoring Scheme]
7/1/2019
2
icon
2

Score remained at 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Reports Added
[The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.2019] [Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
1/1/2019
2
icon
2

Score remained at 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Reports Added
[Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.2019] [Expanding the Phenotypic Spectrum of CACNA1H Mutations.2019]
10/1/2016
2
icon
2

Score remained at 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Reports Added
[High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.2016]
1/1/2016
2
icon
2

Score remained at 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Reports Added
[CACNA1H mutations in autism spectrum disorders.2006] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.2004] [Molecular characterization of T-type calcium channels.2006] [The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2 channels: a paradigm for childhood absence epilepsy mutations.2007] [Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.2007] [CaV3.2 T-type calcium channels are involved in calcium-dependent secretion of neuroendocrine prostate cancer cells.2008] [Activation of corticotropin-releasing factor receptor 1 selectively inhibits CaV3.2 T-type calcium channels.2008] [Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy.2008] [Protein kinase A activity controls the regulation of T-type CaV3.2 channels by Gbetagamma dimers.2009] [A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygeni...2009] [ACTH induces Cav3.2 current and mRNA by cAMP-dependent and cAMP-independent mechanisms.2010] [A Ca(v)3.2/syntaxin-1A signaling complex controls T-type channel activity and low-threshold exocytosis.2011] [Transcriptional regulation of T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and repressor element 1 (RE-1) pro...2012] [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.2015] [The contribution of de novo coding mutations to autism spectrum disorder2014] [Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015]
1/1/2015
2
icon
2

Score remained at 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Reports Added
[Large-scale discovery of novel genetic causes of developmental disorders.2014]
7/1/2014
No data
icon
2

Increased from No data to 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

4/1/2014
No data
icon
2

Increased from No data to 2

Description

Rare variants seen to reduce Ca(V)3.2 channel activity present in 6 / 461 cases but none of 480 controls, imperfect segregation with disease as inherited from unaffected family members consistent with incomplete penetrance and/or polygenic etiology (Splawski I et al.); consistent with above, Heron et al. indicates that variants that are biologically functional and may predispose to seizures are insufficient to cause clinical features of disease (Heron, S. E. et al.).

Krishnan Probability Score

Score 0.49392022083811

Ranking 3918/25841 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 0.75591697572235

Ranking 4175/18225 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 0.933

Ranking 104/239 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 0.76003783240927

Ranking 1659/18665 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 12

Ranking 155/461 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 0.11212218076864

Ranking 5876/20870 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 CACNA1H(1 CNVs)
Sort By:
16p13.3 69 Deletion-Duplication 99  /  539
External PIN Data
BioGRIDHuman Protein Reference Database
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit Human Autoregulation 8912 O95180
Esr1 estrogen receptor 1 (alpha) Mouse DNA Binding 13982 P19785
Esr2 estrogen receptor 2 (beta) Mouse DNA Binding 13983 O08537
POMC proopiomelanocortin Human Direct Regulation 5443 P01189
PPP3R2 Calcineurin subunit B type 2 Human Protein Binding 5535 Q96LZ3
REST RE1-silencing transcription factor Human DNA Binding 5978 Q13127
USP5 ubiquitin specific peptidase 5 (isopeptidase T) Mouse Protein Binding 22225 P56399
WPP1 WW domain containing E3 ubiquitin protein ligase 1 Mouse Protein Binding 107568 Q8BZZ3
Submit New Gene

Report an Error