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CASK |
Gene Facts External Data Attribution
- HGNC Symbol
- CASK (HGNC:1497) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- calcium/calmodulin dependent serine protein kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TNRC8
- Alias symbols
- LIN2, CAGH39, FGS4
- %HI
- 3.08(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.07(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.4
- Genomic Coordinates
-
GRCh37/hg19: chrX:41374187-41782807 NCBI Ensembl UCSC GRCh38/hg38: chrX:41514934-41923554 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001367721.1 ENST00000378163.7 (Read more about MANE Select)
- Function
- Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking (PubMed:18423203). Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matr... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31361
ClinGen Curation ID:
CCID:006787
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
