Variant Details for IMMP2L
Basic Information Top
| Gene Symbol: | IMMP2L ( IMP2,IMP2-LIKE ) |
|---|---|
| Gene Full Name: | IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) |
| Band: | 7q31.1 |
| Quick Links | Entrez ID:83943; OMIM: 605977; Uniprot ID:IMP2L_HUMAN; ENSEMBL ID: ENSG00000184903; HGNC ID: 14598 |
| 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 | 25 | 0 | 0 | 0 | 1 | 1 | 27 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000142 | 7 | 7q31.1-31.31 | 108606430 | 119629936 | 11023506 | loss | external link | Marshall, 2008 |
| AutCNV0000679 | 7 | 7q31.1 | 110920302 | 111662871 | 742569 | gain | external link | Maestrini, 2009 |
| AutCNV0001869 | 7 | 7q31.1 | 111092478 | 111146186 | 53708 | loss | external link | Pinto, 2010 |
| AutCNV0000668 | 7 | 7q31.1 | 110459927 | 111479124 | 1019197 | loss | external link | Pagnamenta, 2010 |
| AutCNV0001868 | 7 | 7q31.1 | 111053822 | 111199771 | 145949 | loss | external link | Pinto, 2010 |
| AutCNV0000667 | 7 | 7q31.1 | 110467221 | 111479124 | 1011903 | loss | external link | Pagnamenta, 2010 |
| AutCNV0001867 | 7 | 7q31.1 | 111048579 | 111080241 | 31662 | loss | external link | Pinto, 2010 |
| AutCNV0000666 | 7 | 7q31.1 | 110879251 | 111469572 | 590321 | loss | external link | Pagnamenta, 2010 |
| AutCNV0001866 | 7 | 7q31.1 | 110977344 | 111235377 | 258033 | loss | external link | Pinto, 2010 |
| AutCNV0000665 | 7 | 7q31.1 | 110867535 | 111469572 | 602037 | loss | external link | Pagnamenta, 2010 |
| AutCNV0001261 | 7 | 7q31.1 | 110915339 | 110968770 | 53431 | loss | external link | Pinto, 2010 |
| AutCNV0002667 | 7 | 7q31.1 | 111180544 | 111225146 | 44602 | loss | external link | Pinto, 2010 |
| AutCNV0001260 | 7 | 7q31.1 | 110875153 | 111059886 | 184733 | loss | external link | Pinto, 2010 |
| AutCNV0002666 | 7 | 7q31.1 | 111112853 | 111261466 | 148613 | loss | external link | Pinto, 2010 |
| AutCNV0001259 | 7 | 7q31.1 | 110851553 | 110977344 | 125791 | loss | external link | Pinto, 2010 |
| AutCNV0002665 | 7 | 7q31.1 | 111058376 | 111259611 | 201235 | gain | external link | Pinto, 2010 |
| AutCNV0001075 | 7 | 7q31.1 | 111018844 | 111146186 | 127342 | loss | external link | Pinto, 2010 |
| AutCNV0002664 | 7 | 7q31.1 | 111048579 | 111080241 | 31662 | loss | external link | Pinto, 2010 |
| AutCNV0001074 | 7 | 7q31.1 | 110948609 | 111080241 | 131632 | loss | external link | Pinto, 2010 |
| AutCNV0002663 | 7 | 7q31.1 | 110892059 | 111023322 | 131263 | loss | external link | Pinto, 2010 |
| AutCNV0000751 | 7 | 7q31.1 | 111092478 | 111137752 | 45274 | loss | external link | Pinto, 2010 |
| AutCNV0002662 | 7 | 7q31.1 | 110805249 | 111160356 | 355107 | loss | external link | Pinto, 2010 |
| AutCNV0004266 | 7 | 7q31.1-q31.31 | 108413145 | 119436651 | 11023506 | loss | external link | Sanders, 2011 |
| AutCNV0003610 | 7 | 7q31.1 | 110957294 | 111193237 | 235943 | loss | external link | Gai, 2011 |
| AutCNV0003256 | 7 | 7q31.1 | 110374713 | 110516659 | 141946 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| Petek, 2007 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000058 | 7q31.1 | 7 | D7S523 | 1.02 | - | - | Liu, 2001 |