Variant Details for ERBB4
Basic Information Top
| Gene Symbol: | ERBB4 ( HER4,MGC138404,p180erbB4 ) |
|---|---|
| Gene Full Name: | v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) |
| Band: | 2q34 |
| Quick Links | Entrez ID:2066; OMIM: 600543; Uniprot ID:ERBB4_HUMAN; ENSEMBL ID: ENSG00000178568; HGNC ID: 3432 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 6 | 2 | 0 | 1 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000262 | 2 | 2q33.3-35 | 207140599 | 217211052 | 10070453 | loss | external link | Pescucci, 2003 |
| AutCNV0001633 | 2 | 2q34 | 213129211 | 213173172 | 43961 | gain | external link | Pinto, 2010 |
| AutCNV0001632 | 2 | 2q34 | 213023438 | 213122718 | 99280 | loss | external link | Pinto, 2010 |
| AutCNV0001631 | 2 | 2q34 | 212832434 | 212916758 | 84324 | loss | external link | Pinto, 2010 |
| AutCNV0001630 | 2 | 2q34 | 212802765 | 212845904 | 43139 | loss | external link | Pinto, 2010 |
| AutCNV0003154 | 2 | 2q34 | 213129211 | 213386267 | 257056 | loss | external link | Gai, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 212522487 | T | C | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 0 | Nilsson D, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 212773273 | A | G | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||