Variant Details for FHIT
Basic Information Top
| Gene Symbol: | FHIT ( AP3Aase,FRA3B ) |
|---|---|
| Gene Full Name: | fragile histidine triad gene |
| Band: | 3p14.2 |
| Quick Links | Entrez ID:2272; OMIM: 601153; Uniprot ID:FHIT_HUMAN; ENSEMBL ID: ENSG00000189283; HGNC ID: 3701 |
| 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 | 15 | 0 | 0 | 4 | 0 | 0 | 19 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000005 | 3 | 3p14.2 | 61097060 | 61390156 | 293096 | gain | external link | Sebat, 2007 |
| AutCNV0000004 | 3 | 3p14.2 | 60770993 | 60872500 | 101507 | loss | external link | Sebat, 2007 |
| AutCNV0001659 | 3 | 3p14.2 | 61127205 | 61190664 | 63459 | gain | external link | Pinto, 2010 |
| AutCNV0001658 | 3 | 3p14.2 | 60038632 | 60225665 | 187033 | loss | external link | Pinto, 2010 |
| AutCNV0004507 | 3 | 3p14.2 | 61018320 | 61067119 | 48799 | loss | external link | Nord, 2011 |
| AutCNV0004487 | 3 | 3p14.2 | 60309898 | 60417499 | 107601 | loss | external link | Nord, 2011 |
| AutCNV0004222 | 3 | 3p14.2 | 61097060 | 61390156 | 293096 | gain | external link | Sanders, 2011 |
| AutCNV0004221 | 3 | 3p14.2 | 60770993 | 60872500 | 101507 | loss | external link | Sanders, 2011 |
| AutCNV0003898 | 3 | 3p14.2 | 59955542 | 60018571 | 63029 | loss | external link | Levy, 2011 |
| AutCNV0003523 | 3 | 3p14.2 | 59946384 | 59968353 | 21969 | loss | external link | Gai, 2011 |
| AutCNV0003175 | 3 | 3p14.2 | 60382828 | 60405004 | 22176 | loss | external link | Gai, 2011 |
| AutCNV0003174 | 3 | 3p14.2 | 60291875 | 60395260 | 103385 | loss | external link | Gai, 2011 |
| AutCNV0003173 | 3 | 3p14.2 | 59973302 | 59986929 | 13627 | loss | external link | Gai, 2011 |
| AutCNV0005805 | 3 | 3p14.2 | 60478959 | 60572752 | 93793 | loss | external link | Toma C, 2014 |
| AutCNV0005111 | 1 | 1q42.2 | 231711489 | 231813134 | 101645 | gain | external link | Kanduri C, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 59577907 | TTTTTTT | - | Doan RN, 2016 | |||||
| 3 | 59577904 | TTTT | - | Doan RN, 2016 | |||||
| 3 | 59577908 | TTTTTTTT | - | Doan RN, 2016 | |||||
| 3 | 59577900 | C | T | 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! | |||||||