| Variant ID | 10060 |
|---|---|
| Entrez Gene ID | 7164 |
| Gene | TPD52L1 (GeneCards) |
| Location | hg19 6:125502448-125502448
hg38 6:125181302-125181302 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.125502448 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 | -0.1072 |
| CADD Raw score (version 1.3) | 0.138535 (Deleterious) |
| FATHMM raw prediction score | 0.11241 (Tolerated) |
| Deleterious probability by DeFine | 0.5842 (Deleterious) |
| Entrez Gene ID | 7164 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPD52L1 (GeneCards) |
| Number of variants in TPD52L1 in this database | 3 (view all the variants) |
| Full name | tumor protein D52 like 1 |
| Band | 6q22.31 |
| Other IDs | Vega: OTTHUMG00000015505 OMIM: 604069 HGNC: HGNC:12006 Ensembl: ENSG00000111907 |
| Other names | D53 |
| Summary | This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016] |
| Individual ID | 29217584.16 (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; |