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
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (44 variants)
- not_provided (2 variants)
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. These statistics are base on transcript: NM_000139317.3. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 36 | 46 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 36 | 8 | 2 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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
- Phenotype
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