| Variant ID | 10152 |
|---|---|
| Entrez Gene ID | 9444 |
| Gene | QKI (GeneCards) |
| Location | hg19 6:163965383-163965383
hg38 6:163544351-163544351 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.163965383 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3491 |
| CADD Raw score (version 1.3) | -0.170748 (Deleterious) |
| FATHMM raw prediction score | 0.04307 (Tolerated) |
| Deleterious probability by DeFine | 0.2184 (Neutral) |
| Entrez Gene ID | 9444 (NCBI Gene) |
|---|---|
| Official Gene Symbol | QKI (GeneCards) |
| Number of variants in QKI in this database | 29 (view all the variants) |
| Full name | QKI, KH domain containing RNA binding |
| Band | 6q26 |
| Other IDs | Vega: OTTHUMG00000015977 OMIM: 609590 HGNC: HGNC:21100 Ensembl: ENSG00000112531 |
| Other names | QK, Hqk, QK1, QK3, hqkI |
| Summary | The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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; |