Variant Details for HERC2
Basic Information Top
| Gene Symbol: | HERC2 ( D15F37S1,DKFZp547P028,KIAA0393,SHEP1,jdf2,p528 ) |
|---|---|
| Gene Full Name: | hect domain and RLD 2 |
| Band: | 15q13.1 |
| Quick Links | Entrez ID:8924; OMIM: 605837; Uniprot ID:HERC2_HUMAN; ENSEMBL ID: ENSG00000128731; HGNC ID: 4868 |
| 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 | 37 | 4 | 0 | 0 | 0 | 1 | 42 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000284 | 15 | 15q11-13 | gain | Wolpert, 2000 | ||||
| AutCNV0000273 | 15 | 15q11.2-13 | gain | Wassink, 2001 | ||||
| AutCNV0000272 | 15 | 15q11.2-13 | loss | Wassink, 2001 | ||||
| AutCNV0000258 | 15 | 15q11-13 | gain | Silva, 2002 | ||||
| AutCNV0000290 | 15 | 15q11-13 | gain | Keller, 2003 | ||||
| AutCNV0000280 | 15 | 15q11-13 | 26434396 | 30162567 | 3728171 | gain | external link | Bolton, 2004 |
| AutCNV0000298 | 15 | 15q11-12 | 25257404 | 29097694 | 3840290 | gain | external link | Mann, 2004 |
| AutCNV0000297 | 15 | 15q11-12 | 25257404 | 29789038 | 4531634 | gain | external link | Mann, 2004 |
| AutCNV0000287 | 15 | 15p11-q13 | 20330217 | 32990417 | 12660200 | gain | external link | Sahoo, 2005 |
| AutCNV0000286 | 15 | 15q11-13 | 23577903 | 28910301 | 5332398 | gain | external link | Sahoo, 2005 |
| AutCNV0000285 | 15 | 15q11-13 | 22646195 | 28910301 | 6264106 | gain | external link | Sahoo, 2005 |
| AutCNV0000288 | 15 | 15p11-q13 | 20330217 | 28910301 | 8580084 | gain | external link | Sahoo, 2005 |
| AutCNV0000133 | 15 | 15q11-13 | 25184942 | 31748742 | 6563800 | gain | external link | Jacquemont, 2006 |
| AutCNV0000279 | 15 | 15q11.2-13 | gain | Wassink, 2007 | ||||
| AutCNV0000010 | 15 | 15q11-13.33 | 20266957 | 32969479 | 12702522 | gain | external link | Sebat, 2007 |
| AutCNV0000268 | 15 | 15q11-13 | 25257428 | 33573585 | 8316157 | gain | external link | Kwasnicka-Crawford, 2007 |
| AutCNV0000225 | 15 | 15q11-13 | 22877142 | 28396011 | 5518869 | gain | external link | Christian, 2008 |
| AutCNV0000224 | 15 | 15q11-13 | 22424462 | 28396011 | 5971549 | gain | external link | Christian, 2008 |
| AutCNV0000181 | 15 | 15q11.2-q13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Marshall, 2008 |
| AutCNV0000149 | 15 | 15q11.2-13.3 | 20167086 | 32511555 | 12344469 | gain | external link | Marshall, 2008 |
| AutCNV0000148 | 15 | 15q11.2-13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Marshall, 2008 |
| AutCNV0000016 | 15 | 15q11-13 | gain | Weiss, 2008 | ||||
| AutCNV0000226 | 15 | 15q11-13 | 22646319 | 28396011 | 5749692 | gain | external link | Christian, 2008 |
| AutCNV0000676 | 15 | 15q11-13 | gain | Bremer, 2009 | ||||
| AutCNV0000589 | 15 | 15q13.1 | 28130451 | 29313054 | 1182603 | gain | external link | Gregory, 2009 |
| AutCNV0000824 | 15 | 15q11.2-13.1 | 23639183 | 28530359 | 4891176 | gain | external link | Pinto, 2010 |
| AutCNV0004312 | 15 | 15q11.2-q13.3 | 20167086 | 32511555 | 12344469 | gain | external link | Sanders, 2011 |
| AutCNV0004311 | 15 | 15q11.1-q13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Sanders, 2011 |
| AutCNV0003836 | 15 | 15q11.2-q13.1 | 23673045 | 28639666 | 4966621 | gain | external link | Levy, 2011 |
| AutCNV0004316 | 15 | 15q11.2-q13.1 | 23688944 | 28422026 | 4733082 | gain | external link | Sanders, 2011 |
| AutCNV0004315 | 15 | 15q11.2-q13.1 | 23639183 | 28530359 | 4891176 | gain | external link | Sanders, 2011 |
| AutCNV0004314 | 15 | 15q11.2-q13.1 | 22265649 | 28460519 | 6194870 | gain | external link | Sanders, 2011 |
| AutCNV0004313 | 15 | 15q11.2-q13.3 | 20266957 | 32969479 | 12702522 | gain | external link | Sanders, 2011 |
| AutCNV0004966 | 15 | 15q13.1 | gain | Hadley D, 2014 | ||||
| AutCNV0005665 | 15 | 15 | Krumm N, 2015 | |||||
| AutCNV0005655 | 15 | 15 | Krumm N, 2015 | |||||
| AutCNV0005643 | 15 | 15 | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 28377973 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 15 | 28369345 | G | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 15 | 28506003 | G | A | PCR or Sanger sequencing | neutral | 0.4283 | Iossifov I, 2014 | ||
| 15 | 28514517 | A | C | PCR or Sanger sequencing | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000155 | 15q13.1-q14 | 15 | rs8033248 | 4.09 | - | - | Allen-Brady, 2010 |