| Variant ID | 5461 |
|---|---|
| Entrez Gene ID | 2047 |
| Gene | EPHB1 (GeneCards) |
| Location | hg19 3:135079270-135079270
hg38 3:135360428-135360428 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.135079270 C>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 | -0.1334 |
| CADD Raw score (version 1.3) | -0.889789 (Deleterious) |
| FATHMM raw prediction score | 0.1304 (Tolerated) |
| Deleterious probability by DeFine | 0.6269 (Deleterious) |
| Entrez Gene ID | 2047 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPHB1 (GeneCards) |
| Number of variants in EPHB1 in this database | 13 (view all the variants) |
| Full name | EPH receptor B1 |
| Band | 3q22.2 |
| Other IDs | Vega: OTTHUMG00000159804 OMIM: 600600 HGNC: HGNC:3392 Ensembl: ENSG00000154928 |
| Other names | ELK, NET, Hek6, EPHT2 |
| Summary | Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of 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. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |