| Variant ID | 9846 |
|---|---|
| Entrez Gene ID | 154214 |
| Gene | RNF217 (GeneCards) |
| Location | hg19 6:125310292-125310292
hg38 6:124989146-124989146 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.125310292 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3079 |
| CADD Raw score (version 1.3) | -0.103692 (Deleterious) |
| FATHMM raw prediction score | 0.0714 (Tolerated) |
| Deleterious probability by DeFine | 0.1357 (Neutral) |
| Entrez Gene ID | 154214 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNF217 (GeneCards) |
| Number of variants in RNF217 in this database | 3 (view all the variants) |
| Full name | ring finger protein 217 |
| Band | 6q22.31 |
| Other IDs | Vega: OTTHUMG00000015504 HGNC: HGNC:21487 Ensembl: ENSG00000146373 |
| Other names | OSTL, IBRDC1, C6orf172, dJ84N20.1 |
| Summary | This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016] |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |