| Variant ID | 867 |
|---|---|
| Entrez Gene ID | 142940 |
| Gene | TRUB1 (GeneCards) |
| Location | hg19 10:116702475-116702475
hg38 10:114942716-114942716 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.116702475 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 120 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 1.644966 (Deleterious) |
| FATHMM raw prediction score | 0.94729 (Tolerated) |
| Deleterious probability by DeFine | 0.7693 (Deleterious) |
| Entrez Gene ID | 142940 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRUB1 (GeneCards) |
| Number of variants in TRUB1 in this database | 1 (view all the variants) |
| Full name | TruB pseudouridine synthase family member 1 |
| Band | 10q25.3 |
| Other IDs | Vega: OTTHUMG00000019094 OMIM: 610726 HGNC: HGNC:16060 Ensembl: ENSG00000165832 |
| Other names | PUS4 |
| Summary | Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |