| Variant ID | 29492 |
|---|---|
| Entrez Gene ID | 329 |
| Gene | BIRC2 (GeneCards) |
| Location | hg19 11:102234425-102234425
hg38 11:102363694-102363694 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.102234425 A>T (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2357 |
| CADD Raw score (version 1.3) | -0.30601 (Deleterious) |
| FATHMM raw prediction score | 0.96981 (Tolerated) |
| Deleterious probability by DeFine | 0.7337 (Deleterious) |
| Entrez Gene ID | 329 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BIRC2 (GeneCards) |
| Number of variants in BIRC2 in this database | 1 (view all the variants) |
| Full name | baculoviral IAP repeat containing 2 |
| Band | 11q22.2 |
| Other IDs | Vega: OTTHUMG00000167325 OMIM: 601712 HGNC: HGNC:590 Ensembl: ENSG00000110330 |
| Other names | API1, MIHB, HIAP2, RNF48, cIAP1, Hiap-2, c-IAP1 |
| Summary | The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
| Individual ID | 28714951.168 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |