BIRC6

baculoviral IAP repeat containing 6, the group of MicroRNA protein coding host genes|Baculoviral IAP repeat containing|Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): 2:32357023-32619571

Links

ENSG00000115760 ∙ NCBI:57448 ∙ OMIM:605638 ∙ HGNC:13516 ∙ Uniprot:Q9NR09 ∙ 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 BIRC6 gene.

• not_specified (507 variants)
• BIRC6-related_disorder (77 variants)
• not_provided (47 variants)
• Hereditary_breast_ovarian_cancer_syndrome (1 variants)
• Autism_spectrum_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BIRC6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016252.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			14	34	22	70
missense			541	13	11	565
nonsense			6			6
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			20			20
Total	0	0	582	47	33

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BIRC6	protein_coding	protein_coding	ENST00000421745	74	261871

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125558	0	51	125609	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.21	1964	2.41e+3	0.816	0.000122	31421
Missense in Polyphen		694	1097.4	0.6324		14419
Synonymous	-1.87	949	879	1.08	0.0000452	9686
Loss of Function	12.5	14	210	0.0666	0.0000108	2822

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.000194	0.000185
European (Non-Finnish)	0.000338	0.000317
Middle Eastern	0.0000547	0.0000544
South Asian	0.0000332	0.0000327
Other	0.000708	0.000653

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Anti-apoptotic protein which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Has an unusual ubiquitin conjugation system in that it could combine in a single polypeptide, ubiquitin conjugating (E2) with ubiquitin ligase (E3) activity, forming a chimeric E2/E3 ubiquitin ligase. Its tragets include CASP9 and DIABLO/SMAC. Acts as an inhibitor of CASP3, CASP7 and CASP9. Important regulator for the final stages of cytokinesis. Crucial for normal vesicle targeting to the site of abscission, but also for the integrity of the midbody and the midbody ring, and its striking ubiquitin modification. {ECO:0000269|PubMed:14765125, ECO:0000269|PubMed:15200957, ECO:0000269|PubMed:18329369}.
• Pathway: Apoptosis - multiple species - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Apoptosis Modulation and Signaling (Consensus)

Recessive Scores

• pRec: 0.0958

Intolerance Scores

• loftool: 0.389
• rvis_EVS: -4.33
• rvis_percentile_EVS: 0.11

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.892

Gene Damage Prediction

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

Gene ontology

• Biological process: protein phosphorylation;ubiquitin-dependent protein catabolic process;apoptotic process;cell cycle;positive regulation of cell population proliferation;negative regulation of endopeptidase activity;protein ubiquitination;regulation of cytokinesis;regulation of cell population proliferation;negative regulation of apoptotic process;cell division;labyrinthine layer development;spongiotrophoblast layer development;negative regulation of extrinsic apoptotic signaling pathway
• Cellular component: spindle pole;nucleus;endosome;trans-Golgi network;microtubule organizing center;membrane;midbody;Flemming body
• Molecular function: ubiquitin-protein transferase activity;cysteine-type endopeptidase inhibitor activity;protein binding;ubiquitin conjugating enzyme activity