| Variant ID | 29272 |
|---|---|
| Entrez Gene ID | 576 |
| Gene | ADGRB2 (GeneCards) |
| Location | hg19 1:32206984-32206984
hg38 1:31741383-31741383 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.32206984 A>T (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6786 |
| CADD Raw score (version 1.3) | 5.716589 (Deleterious) |
| FATHMM raw prediction score | 0.99308 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.24 (Deleterious) |
| PROVEAN score | -4.36 (Deleterious) |
| MetaSVM score | -0.358 (Tolerated) |
| MetaLR score | 0.339 (Tolerated) |
| MCAP score | 0.192 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.886 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.868 |
| Deleterious probability by iFish2 | 0.4455 (Neutral) |
| Deleterious probability by DeFine | 0.959 (Deleterious) |
| Entrez Gene ID | 576 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADGRB2 (GeneCards) |
| Number of variants in ADGRB2 in this database | 1 (view all the variants) |
| Full name | adhesion G protein-coupled receptor B2 |
| Band | 1p35.2 |
| Other IDs | Vega: OTTHUMG00000003885 OMIM: 602683 HGNC: HGNC:944 Ensembl: ENSG00000121753 |
| Other names | BAI2 |
| Summary | This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
| Individual ID | 28503910.149 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |