CASP5

Chr 11

caspase 5

Also known as: ICE(rel)III, ICEREL-III, ICH-3

NCBI Gene: 838 ENSG00000137757 UniProt: P51878 OMIM: 602665

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CASP5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 87

572 rare PASS variants

Rare truncating (LoF)

1 in 190

110 rare PASS variants

Rare synonymous (reference)

1 in 220

227 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CASP5; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 280
South Asian	~43k	1 in 76	1 in 230
Remaining (unassigned)	~30k	1 in 77	1 in 190
European (Finnish)	~27k	1 in 520	1 in 340
Admixed American	~22k	1 in 110	1 in 310
African / African American	~21k	1 in 74	1 in 220
East Asian	~20k	1 in 110	1 in 430
Ashkenazi Jewish	~13k	1 in 270	1 in 170
Middle Eastern	~2,884	1 in 140	1 in 170

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.