| Variant ID | 816 |
|---|---|
| Entrez Gene ID | 2042 |
| Gene | EPHA3 (GeneCards) |
| Location | hg19 3:89391000-89391000
hg38 3:89341850-89341850 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.89391000 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 356 |
| Amino acid changes in protein | D > H |
| 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 | 1.0646 |
| CADD Raw score (version 1.3) | 5.831611 (Deleterious) |
| FATHMM raw prediction score | 0.99583 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.645 (Deleterious) |
| PROVEAN score | -5.89 (Deleterious) |
| MetaSVM score | 0.124 (Deleterious) |
| MetaLR score | 0.492 (Tolerated) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.583 |
| Deleterious probability by iFish2 | 0.9406 (Deleterious) |
| Deleterious probability by DeFine | 0.9614 (Deleterious) |
| Entrez Gene ID | 2042 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPHA3 (GeneCards) |
| Number of variants in EPHA3 in this database | 13 (view all the variants) |
| Full name | EPH receptor A3 |
| Band | 3p11.1 |
| Other IDs | Vega: OTTHUMG00000159040 OMIM: 179611 HGNC: HGNC:3387 Ensembl: ENSG00000044524 |
| Other names | EK4, ETK, HEK, ETK1, HEK4, TYRO4 |
| Summary | This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] |
| 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; |