Variant ID | 4670 |
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Entrez Gene ID | 2042 |
Gene | EPHA3 (GeneCards) |
Location | hg19 3:89749155-89749155
hg38 3:89700005-89700005 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000003.11:g.89749155 A>G (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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) | 0.0001 |
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EIGEN score | -0.3125 |
CADD Raw score (version 1.3) | -0.187878 (Deleterious) |
FATHMM raw prediction score | 0.11855 (Tolerated) |
Deleterious probability by DeFine | 0.1163 (Neutral) |
Entrez Gene ID | 2042 (NCBI Gene) |
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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 | 29217584.03 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217584 |
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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; |