API5

apoptosis inhibitor 5, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 11:43311962-43344529

Links

ENSG00000166181 ∙ NCBI:8539 ∙ OMIM:609774 ∙ HGNC:594 ∙ Uniprot:Q9BZZ5 ∙ 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 API5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the API5 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	1		8
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	1	0

Variants in API5

This is a list of pathogenic ClinVar variants found in the API5 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-43320863-G-A		not specified	Uncertain significance (Jun 28, 2023)
11-43323473-A-G		not specified	Uncertain significance (Jan 13, 2023)
11-43326516-C-G		not specified	Uncertain significance (Aug 14, 2023)
11-43326559-C-G		not specified	Uncertain significance (Apr 14, 2022)
11-43326580-C-T		not specified	Uncertain significance (Apr 23, 2024)
11-43328874-C-G		not specified	Uncertain significance (Dec 27, 2023)
11-43330041-G-A		not specified	Uncertain significance (Jan 27, 2022)
11-43335890-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-43342447-G-A		not specified	Likely benign (Oct 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
API5	protein_coding	protein_coding	ENST00000531273	14	32567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000406	125656	0	1	125657	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.92	139	276	0.504	0.0000139	3417
Missense in Polyphen		26	85.593	0.30376		1196
Synonymous	0.835	90	101	0.894	0.00000493	998
Loss of Function	5.16	1	33.0	0.0303	0.00000188	383

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. {ECO:0000269|PubMed:10780674, ECO:0000269|PubMed:17112319, ECO:0000269|PubMed:19387494}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.385
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.734
• hipred: Y
• hipred_score: 0.749
• ghis: 0.724

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Api5

Gene ontology

• Biological process: apoptotic process;negative regulation of apoptotic process;negative regulation of fibroblast apoptotic process
• Cellular component: nucleus;spliceosomal complex;cytoplasm;membrane;nuclear speck
• Molecular function: RNA binding;protein binding;fibroblast growth factor binding