| Variant ID | 1133 |
|---|---|
| Entrez Gene ID | 23335 |
| Gene | WDR7 (GeneCards) |
| Location | hg19 18:54348610-54348610
hg38 18:56681379-56681379 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000018.9:g.54348610 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 111 |
| Amino acid changes in protein | H > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2939 |
| CADD Raw score (version 1.3) | 0.235178 (Deleterious) |
| FATHMM raw prediction score | 0.97388 (Tolerated) |
| Deleterious probability by DeFine | 0.8033 (Deleterious) |
| Entrez Gene ID | 23335 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR7 (GeneCards) |
| Number of variants in WDR7 in this database | 5 (view all the variants) |
| Full name | WD repeat domain 7 |
| Band | 18q21.31 |
| Other IDs | Vega: OTTHUMG00000132721 OMIM: 613473 HGNC: HGNC:13490 Ensembl: ENSG00000091157 |
| Other names | TRAG |
| Summary | This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| 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; |