| Variant ID | 24805 |
|---|---|
| Entrez Gene ID | 57448 |
| Gene | BIRC6 (GeneCards) |
| Location | hg19 2:32828887-32828887
hg38 2:32603820-32603820 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.32828887 C>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0068 |
| CADD Raw score (version 1.3) | 1.492352 (Deleterious) |
| FATHMM raw prediction score | 0.09625 (Tolerated) |
| Deleterious probability by DeFine | 0.1898 (Neutral) |
| Entrez Gene ID | 57448 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BIRC6 (GeneCards) |
| Number of variants in BIRC6 in this database | 5 (view all the variants) |
| Full name | baculoviral IAP repeat containing 6 |
| Band | 2p22.3 |
| Other IDs | Vega: OTTHUMG00000150528 OMIM: 605638 HGNC: HGNC:13516 Ensembl: ENSG00000115760 |
| Other names | BRUCE, APOLLON |
| Summary | This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |