| Variant ID | 17820 |
|---|---|
| Entrez Gene ID | 90627 |
| Gene | STARD13 (GeneCards) |
| Location | hg19 13:34053429-34053429
hg38 13:33479292-33479292 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.34053429 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.3504 |
| CADD Raw score (version 1.3) | -0.081652 (Deleterious) |
| FATHMM raw prediction score | 0.05628 (Tolerated) |
| Deleterious probability by DeFine | 0.2544 (Neutral) |
| Entrez Gene ID | 90627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STARD13 (GeneCards) |
| Number of variants in STARD13 in this database | 9 (view all the variants) |
| Full name | StAR related lipid transfer domain containing 13 |
| Band | 13q13.1-q13.2 |
| Other IDs | Vega: OTTHUMG00000016708 OMIM: 609866 HGNC: HGNC:19164 Ensembl: ENSG00000133121 |
| Other names | DLC2, GT650, ARHGAP37, LINC00464 |
| Summary | This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] |
| 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; |