| Variant ID | 16939 |
|---|---|
| Entrez Gene ID | 11260 |
| Gene | XPOT (GeneCards) |
| Location | hg19 12:64829932-64829932
hg38 12:64436152-64436152 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.64829932 T>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2475 |
| CADD Raw score (version 1.3) | 0.604279 (Deleterious) |
| FATHMM raw prediction score | 0.14573 (Tolerated) |
| Deleterious probability by DeFine | 0.0565 (Neutral) |
| Entrez Gene ID | 11260 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XPOT (GeneCards) |
| Number of variants in XPOT in this database | 1 (view all the variants) |
| Full name | exportin for tRNA |
| Band | 12q14.2 |
| Other IDs | Vega: OTTHUMG00000168794 OMIM: 603180 HGNC: HGNC:12826 Ensembl: ENSG00000184575 |
| Other names | XPO3 |
| Summary | This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |