| Variant ID | 1524 |
|---|---|
| Entrez Gene ID | 5925 |
| Gene | RB1 (GeneCards) |
| Location | hg19 13:49039240-49039240
hg38 13:48465104-48465104 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.49039240 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 773 |
| Amino acid changes in protein | S > Y |
| Position in cDNA | 2318 |
| Changes in cDNA | C > A |
| mRNA accession | NM_000321.2 |
| mRNA length | 5490 |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7427 |
| CADD Raw score (version 1.3) | 6.263875 (Deleterious) |
| FATHMM raw prediction score | 0.98457 (Tolerated) |
| SIFT score | 0.018 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.7 (Tolerated) |
| PROVEAN score | -3.55 (Deleterious) |
| MetaSVM score | 0.392 (Deleterious) |
| MetaLR score | 0.66 (Deleterious) |
| MCAP score | 0.203 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.568 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.343 |
| Deleterious probability by iFish2 | 0.9791 (Deleterious) |
| Deleterious probability by DeFine | 0.9498 (Deleterious) |
| Entrez Gene ID | 5925 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RB1 (GeneCards) |
| Number of variants in RB1 in this database | 10 (view all the variants) |
| Full name | RB transcriptional corepressor 1 |
| Band | 13q14.2 |
| Other IDs | Vega: OTTHUMG00000016900 OMIM: 614041 HGNC: HGNC:9884 Ensembl: ENSG00000139687 |
| Other names | RB, pRb, OSRC, pp110, p105-Rb, PPP1R130 |
| Summary | The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] |
| Individual ID | 28699658.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |