| Variant ID | 1189 |
|---|---|
| Entrez Gene ID | 57448 |
| Gene | BIRC6 (GeneCards) |
| Location | hg19 2:32730150-32730150
hg38 2:32505083-32505083 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000002.11:g.32730150 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 3193 |
| Amino acid changes in protein | R > P |
| Position in cDNA | 9578 |
| Changes in cDNA | G > C |
| mRNA accession | NM_016252.3 |
| mRNA length | 15718 |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.961 |
| CADD Raw score (version 1.3) | 7.477948 (Deleterious) |
| FATHMM raw prediction score | 0.99521 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.25 (Deleterious) |
| PROVEAN score | -6.33 (Deleterious) |
| MetaSVM score | 0.572 (Deleterious) |
| MetaLR score | 0.759 (Deleterious) |
| MCAP score | 0.246 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.541 |
| Deleterious probability by iFish2 | 0.4611 (Neutral) |
| Deleterious probability by DeFine | 0.9587 (Deleterious) |
| 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 | 28867142.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |