| Variant ID | 4381 |
|---|---|
| Entrez Gene ID | 51057 |
| Gene | WDPCP (GeneCards) |
| Location | hg19 2:63509274-63509274
hg38 2:63282139-63282139 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.63509274 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1722 |
| CADD Raw score (version 1.3) | 0.415233 (Deleterious) |
| FATHMM raw prediction score | 0.15976 (Tolerated) |
| Deleterious probability by DeFine | 0.0839 (Neutral) |
| Entrez Gene ID | 51057 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDPCP (GeneCards) |
| Number of variants in WDPCP in this database | 5 (view all the variants) |
| Full name | WD repeat containing planar cell polarity effector |
| Band | 2p15 |
| Other IDs | Vega: OTTHUMG00000152566 OMIM: 613580 HGNC: HGNC:28027 Ensembl: ENSG00000143951 |
| Other names | FRTZ, BBS15, FRITZ, CHDTHP, C2orf86, CPLANE5 |
| Summary | This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |