BIRC5
baculoviral IAP repeat containing 5, the group of Baculoviral IAP repeat containing|Chromosomal passenger complex
Basic information
Region (hg38): 17:78214186-78225636
Previous symbols: [ "API4" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| missense | 12 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 12 | 3 | 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) | ||
| 17-78215997-A-C | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
| 17-78216000-A-T | not specified | Uncertain significance (Feb 22, 2023) | ||
| 17-78216025-G-A | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
| 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) | ||
| 17-78223520-G-A | not specified | Uncertain significance (May 06, 2024) | ||
| 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:
| 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:
- 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