| Variant ID | 10068 |
|---|---|
| Entrez Gene ID | 27242 |
| Gene | TNFRSF21 (GeneCards) |
| Location | hg19 6:47427476-47427476
hg38 6:47459740-47459740 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.47427476 C>T (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 | -0.0562 |
| CADD Raw score (version 1.3) | 0.177562 (Deleterious) |
| FATHMM raw prediction score | 0.13251 (Tolerated) |
| Deleterious probability by DeFine | 0.4132 (Neutral) |
| Entrez Gene ID | 27242 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNFRSF21 (GeneCards) |
| Number of variants in TNFRSF21 in this database | 3 (view all the variants) |
| Full name | TNF receptor superfamily member 21 |
| Band | 6p12.3 |
| Other IDs | Vega: OTTHUMG00000014796 OMIM: 605732 HGNC: HGNC:13469 Ensembl: ENSG00000146072 |
| Other names | DR6, CD358, BM-018 |
| Summary | This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013] |
| Individual ID | 29217584.17 (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; |