| Variant ID | 5747 |
|---|---|
| Entrez Gene ID | 2042 |
| Gene | EPHA3 (GeneCards) |
| Location | hg19 3:89781195-89781195
hg38 3:89732045-89732045 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.89781195 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1383 |
| CADD Raw score (version 1.3) | -0.311875 (Deleterious) |
| FATHMM raw prediction score | 0.22101 (Tolerated) |
| Deleterious probability by DeFine | 0.0492 (Neutral) |
| 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 | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |