| Variant ID | 989 |
|---|---|
| Entrez Gene ID | 7474 |
| Gene | WNT5A (GeneCards) |
| Location | hg19 3:55508429-55508429
hg38 3:55474401-55474401 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.55508429 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 207 |
| Amino acid changes in protein | A > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1945 |
| CADD Raw score (version 1.3) | 3.219534 (Deleterious) |
| FATHMM raw prediction score | 0.8741 (Tolerated) |
| SIFT score | 0.123 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 0.865 (Tolerated) |
| MutatioinAssessor score | 1.175 (Tolerated) |
| PROVEAN score | -1.41 (Tolerated) |
| MetaSVM score | -0.533 (Tolerated) |
| MetaLR score | 0.407 (Tolerated) |
| MCAP score | 0.153 (Deleterious) |
| FitCons score | 0.652 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.96 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.806 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.187 |
| Deleterious probability by iFish2 | 0.1147 (Neutral) |
| Deleterious probability by DeFine | 0.9507 (Deleterious) |
| Entrez Gene ID | 7474 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WNT5A (GeneCards) |
| Number of variants in WNT5A in this database | 1 (view all the variants) |
| Full name | Wnt family member 5A |
| Band | 3p14.3 |
| Other IDs | Vega: OTTHUMG00000158361 OMIM: 164975 HGNC: HGNC:12784 Ensembl: ENSG00000114251 |
| Other names | hWNT5A |
| Summary | The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] |
| 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; |