| Variant ID | 29162 |
|---|---|
| Entrez Gene ID | 10181 |
| Gene | RBM5 (GeneCards) |
| Location | hg19 3:50154707-50154707
hg38 3:50117274-50117274 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.50154707 T>C (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3775 |
| CADD Raw score (version 1.3) | 1.733367 (Deleterious) |
| FATHMM raw prediction score | 0.93481 (Tolerated) |
| Deleterious probability by DeFine | 0.9447 (Deleterious) |
| Entrez Gene ID | 10181 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBM5 (GeneCards) |
| Number of variants in RBM5 in this database | 1 (view all the variants) |
| Full name | RNA binding motif protein 5 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000156785 OMIM: 606884 HGNC: HGNC:9902 Ensembl: ENSG00000003756 |
| Other names | G15, H37, RMB5, LUCA15 |
| Summary | This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011] |
| Individual ID | 28503910.39 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |