| Variant ID | 916 |
|---|---|
| Entrez Gene ID | 57539 |
| Gene | WDR35 (GeneCards) |
| Location | hg19 2:20166551-20166551
hg38 2:19966790-19966790 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.20166551 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 376 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2555 |
| CADD Raw score (version 1.3) | 1.296678 (Deleterious) |
| FATHMM raw prediction score | 0.96868 (Tolerated) |
| Deleterious probability by DeFine | 0.7356 (Deleterious) |
| Entrez Gene ID | 57539 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR35 (GeneCards) |
| Number of variants in WDR35 in this database | 2 (view all the variants) |
| Full name | WD repeat domain 35 |
| Band | 2p24.1 |
| Other IDs | Vega: OTTHUMG00000090737 OMIM: 613602 HGNC: HGNC:29250 Ensembl: ENSG00000118965 |
| Other names | CED2, IFTA1, SRTD7, IFT121 |
| 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), which 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] |
| 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; |