| Variant ID | 1166 |
|---|---|
| Entrez Gene ID | 394 |
| Gene | ARHGAP5 (GeneCards) |
| Location | hg19 14:32561316-32561316
hg38 14:32092110-32092110 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000014.8:g.32561316 G>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 | NM_001173.2 |
| mRNA length | 9601 |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs200628183 |
| Variant IDs in COSMIC (version 89) | 1666408 |
| Variant occurences in COSMIC | 1(breast)|1(kidney)|2(lung)|2(thyroid)|1(upper_aerodigestive_tract)|1(large_intestine)|1(eye)|1(central_nervous_system) |
| EIGEN score | 1.2493 |
| CADD Raw score (version 1.3) | 13.045209 (Deleterious) |
| FATHMM raw prediction score | 0.99558 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (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 | 20.547 |
| Deleterious probability by DeFine | 0.894 (Deleterious) |
| Entrez Gene ID | 394 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGAP5 (GeneCards) |
| Number of variants in ARHGAP5 in this database | 4 (view all the variants) |
| Full name | Rho GTPase activating protein 5 |
| Band | 14q12 |
| Other IDs | Vega: OTTHUMG00000170589 OMIM: 602680 HGNC: HGNC:675 Ensembl: ENSG00000100852 |
| Other names | GFI2, p190-B, RhoGAP5, p190BRhoGAP |
| Summary | Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28235832.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |