| Variant ID | 12595 |
|---|---|
| Entrez Gene ID | 7071 |
| Gene | KLF10 (GeneCards) |
| Location | hg19 8:103714215-103714215
hg38 8:102701987-102701987 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.103714215 A>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6546 |
| CADD Raw score (version 1.3) | -0.853331 (Deleterious) |
| FATHMM raw prediction score | 0.0545 (Tolerated) |
| Deleterious probability by DeFine | 0.5346 (Deleterious) |
| Entrez Gene ID | 7071 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLF10 (GeneCards) |
| Number of variants in KLF10 in this database | 2 (view all the variants) |
| Full name | Kruppel like factor 10 |
| Band | 8q22.3 |
| Other IDs | Vega: OTTHUMG00000164735 OMIM: 601878 HGNC: HGNC:11810 Ensembl: ENSG00000155090 |
| Other names | EGRA, TIEG, TIEG1, EGR-alpha |
| Summary | This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] |
| Individual ID | 29217584.16 (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; |