BIRC7

baculoviral IAP repeat containing 7, the group of MicroRNA protein coding host genes|Ring finger proteins|Baculoviral IAP repeat containing

Basic information

Region (hg38): 20:63235883-63240495

Links

ENSG00000101197 ∙ NCBI:79444 ∙ OMIM:605737 ∙ HGNC:13702 ∙ Uniprot:Q96CA5 ∙ 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 BIRC7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BIRC7 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			24	5	2	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	5	2

Variants in BIRC7

This is a list of pathogenic ClinVar variants found in the BIRC7 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-63236110-A-G		not specified	Uncertain significance (Mar 25, 2024)
20-63236131-G-A		not specified	Likely benign (Jun 17, 2024)
20-63236160-G-A		not specified	Uncertain significance (Feb 28, 2023)
20-63236196-T-C		not specified	Uncertain significance (Jan 19, 2025)
20-63236265-G-T		not specified	Uncertain significance (Apr 12, 2022)
20-63236298-G-A		not specified	Uncertain significance (Aug 28, 2024)
20-63236310-G-A		not specified	Uncertain significance (Apr 19, 2023)
20-63236320-T-C		not specified	Likely benign (Nov 13, 2023)
20-63236328-G-A		not specified	Likely benign (May 31, 2023)
20-63236331-C-G		not specified	Uncertain significance (Nov 10, 2022)
20-63236343-G-A		not specified	Uncertain significance (Apr 09, 2024)
20-63236362-T-C		not specified	Uncertain significance (Jan 15, 2025)
20-63236364-C-T		not specified	Uncertain significance (Dec 15, 2024)
20-63237978-C-T		not specified	Uncertain significance (Nov 26, 2024)
20-63238403-T-C		not specified	Uncertain significance (Nov 13, 2023)
20-63238425-G-A		not specified	Uncertain significance (Aug 27, 2024)
20-63238473-C-G		not specified	Uncertain significance (Oct 10, 2023)
20-63238585-C-T		not specified	Uncertain significance (Feb 21, 2024)
20-63238597-C-G			Benign (Jul 23, 2018)
20-63239194-C-T			Benign (Jul 23, 2018)
20-63239195-C-G		not specified	Uncertain significance (Aug 28, 2023)
20-63239215-G-C		not specified	Uncertain significance (Feb 08, 2025)
20-63239438-C-T		not specified	Uncertain significance (May 17, 2023)
20-63239441-C-T		not specified	Uncertain significance (Jan 18, 2023)
20-63239442-G-A		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BIRC7	protein_coding	protein_coding	ENST00000217169	6	4625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.10e-7	0.344	125490	0	95	125585	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00982	191	191	1.00	0.0000126	1889
Missense in Polyphen		45	46.779	0.96196		487
Synonymous	-1.01	95	83.3	1.14	0.00000578	615
Loss of Function	0.603	12	14.5	0.829	6.20e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00334	0.00332
Finnish	0.00	0.00
European (Non-Finnish)	0.000121	0.000115
Middle Eastern	0.00334	0.00332
South Asian	0.000460	0.000457
Other	0.000505	0.000490

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. This activation depends on TAB1 and NR2C2/TAK1. In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9. Isoform 1 blocks staurosporine-induced apoptosis. Isoform 2 blocks etoposide-induced apoptosis. Isoform 2 protects against natural killer (NK) cell killing whereas isoform 1 augments killing. {ECO:0000269|PubMed:11084335, ECO:0000269|PubMed:16729033, ECO:0000269|PubMed:17294084, ECO:0000269|PubMed:18034418}.
• Pathway: Small cell lung cancer - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Apoptosis Modulation and Signaling;Type 2 papillary renal cell carcinoma (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.521
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.05

Haploinsufficiency Scores

• pHI: 0.0729
• hipred: N
• hipred_score: 0.390
• ghis: 0.436

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.650

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Birc7

Gene ontology

• Biological process: apoptotic process;activation of JUN kinase activity;protein ubiquitination;regulation of cell population proliferation;negative regulation of apoptotic process;regulation of natural killer cell apoptotic process;inhibition of cysteine-type endopeptidase activity involved in apoptotic process
• Cellular component: nucleus;cytoplasm;Golgi apparatus;microtubule organizing center;cytosol
• Molecular function: ubiquitin-protein transferase activity;cysteine-type endopeptidase inhibitor activity;protein binding;enzyme binding;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;metal ion binding;ubiquitin protein ligase activity