BIRC5

baculoviral IAP repeat containing 5, the group of Baculoviral IAP repeat containing|Chromosomal passenger complex

Basic information

Region (hg38): 17:78214185-78225636

Previous symbols: [ "API4" ]

Links

ENSG00000089685 ∙ NCBI:332 ∙ OMIM:603352 ∙ HGNC:593 ∙ Uniprot:O15392 ∙ 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 BIRC5 gene.

• Inborn genetic diseases (8 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BIRC5 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				1		1
missense			7	1	1	9
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	2	1

Variants in BIRC5

This is a list of pathogenic ClinVar variants found in the BIRC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-78214339-C-T		not specified	Uncertain significance (Dec 28, 2023)
17-78214392-C-A		not specified	Uncertain significance (Aug 31, 2023)
17-78215982-G-A		not specified	Uncertain significance (Oct 25, 2023)
17-78215993-T-G		not specified	Uncertain significance (Sep 14, 2021)
17-78216000-A-T		not specified	Uncertain significance (Feb 22, 2023)
17-78216684-C-T		not specified	Uncertain significance (Dec 07, 2021)
17-78216689-G-A		not specified	Uncertain significance (Aug 02, 2022)
17-78216695-G-T		not specified	Uncertain significance (Dec 26, 2023)
17-78216757-C-T			Likely benign (Mar 01, 2024)
17-78222827-G-A			Likely benign (Jan 01, 2024)
17-78223480-A-C		not specified	Uncertain significance (Dec 30, 2023)
17-78223519-C-T		not specified	Uncertain significance (Dec 19, 2023)
17-78223522-C-T		not specified	Likely benign (Feb 23, 2023)
17-78223523-G-A		not specified	Uncertain significance (Mar 28, 2023)
17-78223531-G-A		not specified	Uncertain significance (Dec 13, 2022)
17-78223604-G-C			Benign (Dec 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BIRC5	protein_coding	protein_coding	ENST00000301633	5	11451

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0559	0.873	123737	0	1	123738	0.00000404

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.473	73	85.3	0.856	0.00000464	1074
Missense in Polyphen		19	29.476	0.64459		398
Synonymous	0.271	31	33.0	0.940	0.00000198	289
Loss of Function	1.51	3	7.43	0.404	3.53e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000547
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000547	0.0000547
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis (PubMed:9859993, PubMed:21364656, PubMed:20627126). Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis (PubMed:16322459). Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with polymerized microtubules (PubMed:20826784). Involved in the recruitment of CPC to centromeres during early mitosis via association with histone H3 phosphorylated at 'Thr-3' (H3pT3) during mitosis (PubMed:20929775). The complex with RAN plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). May counteract a default induction of apoptosis in G2/M phase (PubMed:9859993). The acetylated form represses STAT3 transactivation of target gene promoters (PubMed:20826784). May play a role in neoplasia (PubMed:10626797). Inhibitor of CASP3 and CASP7 (PubMed:21536684). Isoform 2 and isoform 3 do not appear to play vital roles in mitosis (PubMed:12773388, PubMed:16291752). Isoform 3 shows a marked reduction in its anti-apoptotic effects when compared with the displayed wild-type isoform (PubMed:10626797). {ECO:0000269|PubMed:10626797, ECO:0000269|PubMed:12773388, ECO:0000269|PubMed:16291752, ECO:0000269|PubMed:16322459, ECO:0000269|PubMed:18591255, ECO:0000269|PubMed:20627126, ECO:0000269|PubMed:20826784, ECO:0000269|PubMed:20929775, ECO:0000269|PubMed:21364656, ECO:0000269|PubMed:21536684, ECO:0000269|PubMed:9859993}.
• Pathway: Apoptosis - multiple species - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Apoptosis Modulation and Signaling;Interleukin-11 Signaling Pathway;Apoptosis;Apoptosis-related network due to altered Notch3 in ovarian cancer;Rac1-Pak1-p38-MMP-2 pathway;Photodynamic therapy-induced HIF-1 survival signaling;Photodynamic therapy-induced NF-kB survival signaling;Apoptotic Signaling Pathway;Hepatitis C and Hepatocellular Carcinoma;TP53 Regulates Transcription of Cell Death Genes;IL-4 Signaling Pathway;Interleukin-4 and 13 signaling;Chromosomal and microsatellite instability in colorectal cancer;Signal Transduction;Gene expression (Transcription);b cell survival pathway;Generic Transcription Pathway;Post-translational protein modification;Metabolism of proteins;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;Aurora A signaling;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;RHO GTPase Effectors;Signaling by Rho GTPases;Neddylation;Transcriptional Regulation by TP53;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Aurora B signaling;Validated targets of C-MYC transcriptional activation;FOXM1 transcription factor network (Consensus)

Recessive Scores

• pRec: 0.626

Intolerance Scores

• loftool: 0.889
• rvis_EVS: 0.79
• rvis_percentile_EVS: 87.4

Haploinsufficiency Scores

• pHI: 0.758
• hipred: Y
• hipred_score: 0.672
• ghis: 0.435

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.384

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Birc5
• Phenotype: embryo phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: birc5b
• Affected structure: erythroid lineage cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: protein phosphorylation;apoptotic process;cell cycle;chromosome segregation;sensory perception of sound;positive regulation of cell population proliferation;negative regulation of endopeptidase activity;cytokine-mediated signaling pathway;protein-containing complex localization;regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of transcription, DNA-templated;cell division;mitotic spindle assembly
• Cellular component: nuclear chromosome;chromosome, centromeric region;condensed chromosome kinetochore;nucleus;nucleoplasm;cytoplasm;cytosol;spindle microtubule;midbody;chromosome passenger complex
• Molecular function: cysteine-type endopeptidase inhibitor activity;protein binding;microtubule binding;Ran GTPase binding;enzyme binding;identical protein binding;metal ion binding;chaperone binding