| Variant ID | 1094 |
|---|---|
| Entrez Gene ID | 55789 |
| Gene | DEPDC1B (GeneCards) |
| Location | hg19 5:59901535-59901535
hg38 5:60605708-60605708 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.59901535 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 349 |
| Amino acid changes in protein | G > G |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.436 |
| CADD Raw score (version 1.3) | 1.158164 (Deleterious) |
| FATHMM raw prediction score | 0.70187 (Tolerated) |
| Deleterious probability by DeFine | 0.695 (Deleterious) |
| Entrez Gene ID | 55789 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DEPDC1B (GeneCards) |
| Number of variants in DEPDC1B in this database | 4 (view all the variants) |
| Full name | DEP domain containing 1B |
| Band | 5q12.1 |
| Other IDs | Vega: OTTHUMG00000097083 OMIM: 616073 HGNC: HGNC:24902 Ensembl: ENSG00000035499 |
| Other names | XTP1, BRCC3 |
| Summary | None |
| Individual ID | 27788131.02 (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; |