CASP10
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CASP10 (HGNC:1500) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
caspase 10
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MCH4, FLICE-2
%HI
89.09(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.05(Read more about gnomAD LOEUF score)
Cytoband
2q33.1
Genomic Coordinates
GRCh37/hg19: chr2:202047864-202094129 NCBI Ensembl UCSC
GRCh38/hg38: chr2:201183141-201229406 NCBI Ensembl UCSC
MANE Select Transcript
NM_032977.4 ENST00000286186.11 (Read more about MANE Select)
Function
Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small- molecule substrates, Tyr- Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC. {ECO:0000269|PubMed:11717445, ECO:0000269|PubMed:16916640}. Isoform 7 can enhance NF-kappaB activity but promote... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9405
ClinGen Curation ID:
CCID:006788
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/10/2020

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 21382177
    Exonic deletion of CASP10 resulted in a frame shift with an early stop codon was detected in a patient presenting with systemic juvenile idiopathic arthritis. Systemic juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis. Tadaki H et al. performed single nucleotide polymorphism (SNP) array analysis in 50 patients with s-JIA, and found a 13-kb intragenic deletion of CASP10 in one patient. The deletion was also found in a the patient's father and sister who were asymptomatic.
HI Evidence Comments:
Variants in CASP10 cause autoimmune lymphoproliferative syndrome through a likely dominant negative mechanism. A single report of an exonic deletion leading to a frameshift was reported in one patient with systemic juvenile idiopathic arthritis (Tadaki H et al.). The deletion was inherited from a normal parent. Of note, SNPs polymorphism of CASP10 were found to be associated with risk of gastric cancers, cardia adenocarcinomas, and gastric noncardia adenocarcinomas (PMID 23921907). SNPs loci of CASP10 were also identified associated with susceptibility of chronic lymphocytic leukemia or small lymphocytic lymphoma (PMID 23770605), breast cancer (PMID 23212337), and cutaneous melanoma (PMID 18563783).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence of triplosensitivity

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)