| Variant ID | 783 |
|---|---|
| Entrez Gene ID | 2047 |
| Gene | EPHB1 (GeneCards) |
| Location | hg19 3:134911642-134911642
hg38 3:135192800-135192800 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.134911642 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 703 |
| Amino acid changes in protein | G > S |
| 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 | 0.8007 |
| CADD Raw score (version 1.3) | 6.353399 (Deleterious) |
| FATHMM raw prediction score | 0.98617 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.79 (Deleterious) |
| PROVEAN score | -4.38 (Deleterious) |
| MetaSVM score | 0.926 (Deleterious) |
| MetaLR score | 0.853 (Deleterious) |
| MCAP score | 0.35 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.943 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.431 |
| Deleterious probability by iFish2 | 0.9257 (Deleterious) |
| Deleterious probability by DeFine | 0.9622 (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 | 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; |