Variant Details for NOBOX
Basic Information Top
| Gene Symbol: | NOBOX ( OG-2,OG2,OG2X,POF5,TCAG_12042 ) |
|---|---|
| Gene Full Name: | NOBOX oogenesis homeobox |
| Band: | 7q35 |
| Quick Links | Entrez ID:135935; OMIM: 610934; Uniprot ID:NOBOX_HUMAN; ENSEMBL ID: ENSG00000106410; HGNC ID: 22448 |
| 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 | 10 | 2 | 1 | 0 | 0 | 1 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000516 | 7 | 7q35 | 143233242 | 144118210 | 884968 | loss | external link | Gregory, 2009 |
| AutCNV0000515 | 7 | 7q34-35 | 143055622 | 144267119 | 1211497 | gain | external link | Gregory, 2009 |
| AutCNV0000525 | 7 | 7q35 | 143740831 | 144118210 | 377379 | loss | external link | Gregory, 2009 |
| AutCNV0000524 | 7 | 7q35 | 143677153 | 144208065 | 530912 | gain | external link | Gregory, 2009 |
| AutCNV0000523 | 7 | 7q35 | 143677153 | 144208065 | 530912 | gain | external link | Gregory, 2009 |
| AutCNV0000522 | 7 | 7q35 | 143677153 | 144118210 | 441057 | gain | external link | Gregory, 2009 |
| AutCNV0000521 | 7 | 7q35 | 143677153 | 144118210 | 441057 | loss | external link | Gregory, 2009 |
| AutCNV0000520 | 7 | 7q35 | 143677153 | 144208065 | 530912 | loss | external link | Gregory, 2009 |
| AutCNV0000519 | 7 | 7q35 | 143559549 | 144118210 | 558661 | gain | external link | Gregory, 2009 |
| AutCNV0000517 | 7 | 7q35 | 143559549 | 144267119 | 707570 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 144094582 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 7 | 144097259 | C | T | PCR or Sanger sequencing | neutral | 0.3269 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 7 | 144096873 | A | G | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000003 | 7q35 | 7 | D7S2195 | 1.65 | - | - | McCauley, 2005 |