| Variant ID | 29590 |
|---|---|
| Entrez Gene ID | 8437 |
| Gene | RASAL1 (GeneCards) |
| Location | hg19 12:113537769-113537769
hg38 12:113099964-113099964 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.113537769 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2862 |
| CADD Raw score (version 1.3) | 8.074065 (Deleterious) |
| FATHMM raw prediction score | 0.21896 (Tolerated) |
| LRT score | 0.781 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| FitCons score | 0.701 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.686 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 2.962 |
| Deleterious probability by DeFine | 0.8863 (Deleterious) |
| Entrez Gene ID | 8437 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASAL1 (GeneCards) |
| Number of variants in RASAL1 in this database | 1 (view all the variants) |
| Full name | RAS protein activator like 1 |
| Band | 12q24.13 |
| Other IDs | Vega: OTTHUMG00000169705 OMIM: 604118 HGNC: HGNC:9873 Ensembl: ENSG00000111344 |
| Other names | RASAL |
| Summary | The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010] |
| Individual ID | 28714951.266 (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; |