| Variant ID | 29571 |
|---|---|
| Entrez Gene ID | 6452 |
| Gene | SH3BP2 (GeneCards) |
| Location | hg19 4:2814174-2814174
hg38 4:2812447-2812447 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.2814174 G>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9285 |
| CADD Raw score (version 1.3) | 1.618026 (Deleterious) |
| FATHMM raw prediction score | 0.01228 (Tolerated) |
| SIFT score | 0.148 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | 0.21 (Tolerated) |
| MetaSVM score | -0.996 (Tolerated) |
| MetaLR score | 0.021 (Tolerated) |
| MCAP score | 0.06 (Deleterious) |
| FitCons score | 0.609 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.05 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.182 |
| Deleterious probability by iFish2 | 0.012 (Neutral) |
| Deleterious probability by DeFine | 0.6223 (Deleterious) |
| Entrez Gene ID | 6452 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SH3BP2 (GeneCards) |
| Number of variants in SH3BP2 in this database | 1 (view all the variants) |
| Full name | SH3 domain binding protein 2 |
| Band | 4p16.3 |
| Other IDs | Vega: OTTHUMG00000160801 OMIM: 602104 HGNC: HGNC:10825 Ensembl: ENSG00000087266 |
| Other names | 3BP2, CRBM, CRPM, 3BP-2, RES4-23 |
| Summary | The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 28714951.247 (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; |