| Variant ID | 33751 |
|---|---|
| Entrez Gene ID | 577 |
| Gene | BAI3 (GeneCards) |
| Location | hg19 6:70064197-70064197
hg38 6:69354305-69354305 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000006.11:g.70064197 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1178 |
| Amino acid changes in protein | P > S |
| Position in cDNA | 3532 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1697489 |
| Variant occurences in COSMIC | 5(skin) |
| EIGEN score | 0.0536 |
| CADD Raw score (version 1.3) | 4.294172 (Deleterious) |
| FATHMM raw prediction score | 0.96836 (Tolerated) |
| SIFT score | 0.068 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.59 (Tolerated) |
| PROVEAN score | -0.84 (Tolerated) |
| MetaSVM score | -1.086 (Tolerated) |
| MetaLR score | 0.065 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.562 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.831 |
| Deleterious probability by iFish2 | 0.243 (Neutral) |
| Deleterious probability by DeFine | 0.9438 (Deleterious) |
| Entrez Gene ID | 577 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BAI3 (GeneCards) |
| Number of variants in ADGRB3 in this database | 111 (view all the variants) |
| Full name | adhesion G protein-coupled receptor B3 |
| Band | 6q12-q13 |
| Other IDs | Vega: OTTHUMG00000014982 OMIM: 602684 HGNC: HGNC:945 Ensembl: ENSG00000135298 |
| Other names | BAI3 |
| Summary | This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |