CAAP1

caspase activity and apoptosis inhibitor 1

Basic information

Region (hg38): 9:26840685-26892803

Previous symbols: [ "C9orf82" ]

Links

ENSG00000120159 ∙ NCBI:79886 ∙ ∙ HGNC:25834 ∙ Uniprot:Q9H8G2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAAP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAAP1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in CAAP1

This is a list of pathogenic ClinVar variants found in the CAAP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-26842317-A-G		not specified	Uncertain significance (Dec 20, 2022)
9-26842414-G-A		not specified	Uncertain significance (Jun 06, 2023)
9-26842438-T-C		not specified	Uncertain significance (Apr 19, 2023)
9-26842447-T-G		not specified	Uncertain significance (Oct 06, 2021)
9-26842468-C-T		not specified	Uncertain significance (Sep 30, 2024)
9-26842543-T-C		not specified	Uncertain significance (Oct 04, 2022)
9-26842573-C-G		not specified	Uncertain significance (Nov 28, 2023)
9-26842605-G-C		not specified	Uncertain significance (Nov 16, 2021)
9-26842647-C-A		not specified	Uncertain significance (Sep 27, 2022)
9-26861087-C-T		not specified	Uncertain significance (Jan 26, 2022)
9-26861100-C-A		not specified	Uncertain significance (May 16, 2024)
9-26861117-C-T		not specified	Likely benign (Feb 13, 2023)
9-26884849-G-A		not specified	Uncertain significance (Aug 31, 2022)
9-26884873-A-C		not specified	Uncertain significance (May 27, 2022)
9-26886166-T-C		not specified	Uncertain significance (Apr 01, 2024)
9-26887348-T-C		not specified	Uncertain significance (Apr 12, 2022)
9-26887366-A-C		not specified	Uncertain significance (Apr 11, 2023)
9-26887480-C-T		not specified	Uncertain significance (Dec 17, 2023)
9-26892441-G-C		not specified	Uncertain significance (Apr 05, 2023)
9-26892459-T-C		not specified	Uncertain significance (Feb 16, 2023)
9-26892467-C-G		not specified	Uncertain significance (Oct 08, 2024)
9-26892477-T-C		not specified	Uncertain significance (Oct 06, 2022)
9-26892483-C-A		not specified	Uncertain significance (Oct 12, 2021)
9-26892492-C-A		not specified	Uncertain significance (Mar 08, 2024)
9-26892526-C-T		not specified	Uncertain significance (Feb 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAAP1	protein_coding	protein_coding	ENST00000333916	6	52120

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.784	0.215	125647	0	12	125659	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.475	207	189	1.10	0.00000862	2363
Missense in Polyphen		38	50.501	0.75245		735
Synonymous	-1.99	95	73.3	1.30	0.00000386	673
Loss of Function	2.95	2	13.8	0.145	5.80e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000646	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000976	0.0000967
Middle Eastern	0.0000646	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop. {ECO:0000269|PubMed:21980415}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.216
• hipred: N
• hipred_score: 0.435
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Caap1

Gene ontology

• Biological process: apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway