| Variant ID | 13690 |
|---|---|
| Entrez Gene ID | 23189 |
| Gene | KANK1 (GeneCards) |
| Location | hg19 9:560029-560029
hg38 9:560029-560029 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.560029 C>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0637 |
| CADD Raw score (version 1.3) | 1.183782 (Deleterious) |
| FATHMM raw prediction score | 0.10657 (Tolerated) |
| Deleterious probability by DeFine | 0.1196 (Neutral) |
| Entrez Gene ID | 23189 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KANK1 (GeneCards) |
| Number of variants in KANK1 in this database | 4 (view all the variants) |
| Full name | KN motif and ankyrin repeat domains 1 |
| Band | 9p24.3 |
| Other IDs | Vega: OTTHUMG00000019434 OMIM: 607704 HGNC: HGNC:19309 Ensembl: ENSG00000107104 |
| Other names | KANK, CPSQ2, ANKRD15 |
| Summary | The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 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; |