TRIAP1

TP53 regulated inhibitor of apoptosis 1

Basic information

Region (hg38): 12:120443964-120446384

Links

ENSG00000170855 ∙ NCBI:51499 ∙ OMIM:614943 ∙ HGNC:26937 ∙ Uniprot:O43715 ∙ 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 TRIAP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIAP1 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in TRIAP1

This is a list of pathogenic ClinVar variants found in the TRIAP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-120444884-T-G		not specified	Uncertain significance (Jul 14, 2024)
12-120444886-C-T		not specified	Uncertain significance (Jul 14, 2021)
12-120444947-T-C		not specified	Uncertain significance (Oct 04, 2024)
12-120446234-A-G		not specified	Uncertain significance (Aug 01, 2022)
12-120446282-C-A		not specified	Uncertain significance (Sep 16, 2021)
12-120446333-C-T		not specified	Uncertain significance (May 30, 2023)
12-120446335-C-T		not specified	Uncertain significance (Feb 01, 2025)
12-120446355-C-G		not specified	Uncertain significance (Nov 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIAP1	protein_coding	protein_coding	ENST00000546954	2	2452

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0565	0.724	125718	0	3	125721	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.226	39	43.2	0.903	0.00000186	513
Missense in Polyphen		8	10.09	0.79289		148
Synonymous	-0.343	18	16.2	1.11	7.41e-7	124
Loss of Function	0.763	2	3.55	0.563	1.50e-7	41

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000897	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane (PubMed:23931759). Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter across the mitochondrion intermembrane space (in vivo) (PubMed:26071602). Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (PubMed:15735003). {ECO:0000269|PubMed:15735003, ECO:0000269|PubMed:23931759}.
• Pathway: TP53 Regulates Transcription of Cell Death Genes;Gene expression (Transcription);Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Transcriptional Regulation by TP53;Direct p53 effectors (Consensus)

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.397
• ghis: 0.628

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Triap1

Gene ontology

• Biological process: apoptotic process;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;phospholipid transport;DNA damage response, signal transduction by p53 class mediator;cellular response to UV;regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of transcription by RNA polymerase II;negative regulation of release of cytochrome c from mitochondria;regulation of membrane lipid distribution;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;positive regulation of phospholipid transport
• Cellular component: nucleoplasm;mitochondrion;mitochondrial intermembrane space;protein-containing complex;perinuclear region of cytoplasm
• Molecular function: p53 binding;protein binding;phosphatidic acid transporter activity