| Variant ID | 818 |
|---|---|
| Entrez Gene ID | 89857 |
| Gene | KLHL6 (GeneCards) |
| Location | hg19 3:183211899-183211899
hg38 3:183494111-183494111 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.183211899 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 440 |
| Amino acid changes in protein | T > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4703 |
| CADD Raw score (version 1.3) | 0.835813 (Deleterious) |
| FATHMM raw prediction score | 0.79444 (Tolerated) |
| SIFT score | 0.612 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 0.847 (Tolerated) |
| MutatioinAssessor score | -0.6 (Tolerated) |
| PROVEAN score | -0.04 (Tolerated) |
| MetaSVM score | -0.98 (Tolerated) |
| MetaLR score | 0.129 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.561 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.908 |
| Deleterious probability by iFish2 | 0.0155 (Neutral) |
| Deleterious probability by DeFine | 0.9201 (Deleterious) |
| Entrez Gene ID | 89857 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL6 (GeneCards) |
| Number of variants in KLHL6 in this database | 8 (view all the variants) |
| Full name | kelch like family member 6 |
| Band | 3q27.1 |
| Other IDs | Vega: OTTHUMG00000148673 OMIM: 614214 HGNC: HGNC:18653 Ensembl: ENSG00000172578 |
| Other names | None |
| Summary | This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |