CAPN12
Homo sapiens
Gene Name: Calpain 12
Aliases:
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
Aliases:
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 38
Associated CNVs: 2
Evidence score: 3
ASD Reports: 7
Recent Reports: 0
Annotated variants: 38
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015).
Molecular Function
The protein encoded by this gene is a calcium-regulated non-lysosomal thiol-protease with broad endoepeptidase specificy.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN772R004
frameshift_variant
c.660del
p.Asn220LysfsTer24
Familial
Paternal
GEN772R005
frameshift_variant
c.660del
p.Asn220LysfsTer24
Familial
Paternal
GEN772R006
frameshift_variant
c.660del
p.Asn220LysfsTer24
Familial
Maternal
GEN772R007
frameshift_variant
c.660_661del
p.Asn220LysfsTer25
Familial
Maternal
GEN772R031a
frameshift_variant
c.658_659del
p.Asn220GlnfsTer25
Familial
Both parents
Multiplex
GEN772R032
frameshift_variant
c.1442_1443insAGCGGTCGGCGCGC
p.Pro482AlafsTer13
Unknown
Not paternal
Simplex
GEN772R035
frameshift_variant
c.658_661del
p.Asn220AlafsTer23
Familial
Maternal
Multiplex
GEN772R037
frameshift_variant
c.658_659del
p.Asn220GlnfsTer25
Familial
Paternal
Multiplex
GEN772R038
frameshift_variant
c.293_294del
p.Cys98SerfsTer6
Familial
Maternal
Multiplex
Common
No Common Variants Available