| Variant ID | 31042 |
|---|---|
| Entrez Gene ID | 2066 |
| Gene | ERBB4 (GeneCards) |
| Location | hg19 2:212989517-212989517
hg38 2:212124792-212124792 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000002.11:g.212989517 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 65 |
| Amino acid changes in protein | I > R |
| Position in cDNA | 194 |
| Changes in cDNA | T > G |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6911 |
| CADD Raw score (version 1.3) | 5.604486 (Deleterious) |
| FATHMM raw prediction score | 0.96835 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.86 (Deleterious) |
| PROVEAN score | -5.55 (Deleterious) |
| MetaSVM score | 0.523 (Deleterious) |
| MetaLR score | 0.619 (Deleterious) |
| MCAP score | 0.51 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.265 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.481 |
| Deleterious probability by iFish2 | 0.6624 (Deleterious) |
| Deleterious probability by DeFine | 0.9695 (Deleterious) |
| Entrez Gene ID | 2066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERBB4 (GeneCards) |
| Number of variants in ERBB4 in this database | 115 (view all the variants) |
| Full name | erb-b2 receptor tyrosine kinase 4 |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000133012 OMIM: 600543 HGNC: HGNC:3432 Ensembl: ENSG00000178568 |
| Other names | HER4, ALS19, p180erbB4 |
| Summary | This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |