| Variant ID | 13791 |
|---|---|
| Entrez Gene ID | 9314 |
| Gene | KLF4 (GeneCards) |
| Location | hg19 9:111475024-111475024
hg38 9:108712744-108712744 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.111475024 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1696 |
| CADD Raw score (version 1.3) | 0.41308 (Deleterious) |
| FATHMM raw prediction score | 0.13616 (Tolerated) |
| Deleterious probability by DeFine | 0.0822 (Neutral) |
| Entrez Gene ID | 9314 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLF4 (GeneCards) |
| Number of variants in KLF4 in this database | 23 (view all the variants) |
| Full name | Kruppel like factor 4 |
| Band | 9q31.2 |
| Other IDs | Vega: OTTHUMG00000020449 OMIM: 602253 HGNC: HGNC:6348 Ensembl: ENSG00000136826 |
| Other names | EZF, GKLF |
| Summary | This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |