Variant Details for TRRAP
Basic Information Top
| Gene Symbol: | TRRAP ( FLJ10671,PAF350/400,PAF400,STAF40,TR-AP,Tra1 ) |
|---|---|
| Gene Full Name: | transformation/transcription domain-associated protein |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:8295; OMIM: 603015; Uniprot ID:TRRAP_HUMAN; ENSEMBL ID: ENSG00000196367; HGNC ID: 12347 |
| 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 | 0 | 6 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 | 98506430 | G | A | c.1195G>A | p.Val399Ile | Sanger sequencing | deleterious | 0.9956 | Sanders SJ, 2012 |
| 7 | 98478779 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 98508792 | C | T | strong | Iossifov I, 2014 | ||||
| 7 | 98550994 | G | A | c.5647G>A | p.Gly1883Arg | deleterious | 0.6471 | Stessman HA, 2017 | |
| 7 | 98574116 | TGAGATAAG | TGAGATAAGAGATAAG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 0 | p.Trp1848 | Geisheker MR, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000031 | 7q22.1 | 7 | D7S477 | 3.2 | - | - | Monaco, 2001 |