| Variant ID | 20260 |
|---|---|
| Entrez Gene ID | 23335 |
| Gene | WDR7 (GeneCards) |
| Location | hg19 18:54669612-54669612
hg38 18:57002381-57002381 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.54669612 C>T (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3325 |
| CADD Raw score (version 1.3) | 0.818438 (Deleterious) |
| FATHMM raw prediction score | 0.16008 (Tolerated) |
| Deleterious probability by DeFine | 0.4803 (Neutral) |
| 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 | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |