| Variant ID | 2817 |
|---|---|
| Entrez Gene ID | 116461 |
| Gene | TSEN15 (GeneCards) |
| Location | hg19 1:184339128-184339128
hg38 1:184369994-184369994 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.184339128 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1506 |
| CADD Raw score (version 1.3) | 0.040474 (Deleterious) |
| FATHMM raw prediction score | 0.09124 (Tolerated) |
| Deleterious probability by DeFine | 0.144 (Neutral) |
| Entrez Gene ID | 116461 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSEN15 (GeneCards) |
| Number of variants in TSEN15 in this database | 3 (view all the variants) |
| Full name | tRNA splicing endonuclease subunit 15 |
| Band | 1q25.3 |
| Other IDs | Vega: OTTHUMG00000035461 OMIM: 608756 HGNC: HGNC:16791 Ensembl: ENSG00000198860 |
| Other names | PCH2F, sen15, C1orf19 |
| Summary | This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |