| Variant ID | 861 |
|---|---|
| Entrez Gene ID | 3791 |
| Gene | KDR (GeneCards) |
| Location | hg19 4:55955614-55955614
hg38 4:55089447-55089447 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.55955614 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1111 |
| Amino acid changes in protein | I > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4746 |
| CADD Raw score (version 1.3) | 6.874597 (Deleterious) |
| FATHMM raw prediction score | 0.9905 (Tolerated) |
| SIFT score | 0.015 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.42 (Tolerated) |
| PROVEAN score | -1.63 (Tolerated) |
| MetaSVM score | 0.113 (Deleterious) |
| MetaLR score | 0.486 (Tolerated) |
| MCAP score | 0.302 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.57 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.017 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.71 |
| Deleterious probability by iFish2 | 0.6819 (Deleterious) |
| Deleterious probability by DeFine | 0.954 (Deleterious) |
| Entrez Gene ID | 3791 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KDR (GeneCards) |
| Number of variants in KDR in this database | 4 (view all the variants) |
| Full name | kinase insert domain receptor |
| Band | 4q12 |
| Other IDs | Vega: OTTHUMG00000128734 OMIM: 191306 HGNC: HGNC:6307 Ensembl: ENSG00000128052 |
| Other names | FLK1, CD309, VEGFR, VEGFR2 |
| Summary | Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009] |
| 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; |