| Variant ID | 1527 |
|---|---|
| Entrez Gene ID | 154214 |
| Gene | RNF217 (GeneCards) |
| Location | hg19 6:125366443-125366443
hg38 6:125045297-125045297 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000006.11:g.125366443_125366443 del (Genome Assembly: hg19) |
| 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 | NM_152553.4 |
| mRNA length | 10907 |
| Reference length | 171115067 |
| Deleterious probability by DeFine | 0.9428 (Deleterious) |
|---|
| 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 | 28867142.51 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |