| Variant ID | 19240 |
|---|---|
| Entrez Gene ID | 348093 |
| Gene | RBPMS2 (GeneCards) |
| Location | hg19 15:65100143-65100143
hg38 15:64807944-64807944 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.65100143 G>A (Genome Assembly: GRCh37) |
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6365 |
| CADD Raw score (version 1.3) | 0.377152 (Deleterious) |
| FATHMM raw prediction score | 0.22347 (Tolerated) |
| Deleterious probability by DeFine | 0.8419 (Deleterious) |
| Entrez Gene ID | 348093 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBPMS2 (GeneCards) |
| Number of variants in RBPMS2 in this database | 1 (view all the variants) |
| Full name | RNA binding protein, mRNA processing factor 2 |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000172423 HGNC: HGNC:19098 Ensembl: ENSG00000166831 |
| Other names | None |
| Summary | The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |