Variant Details for TRIP12
Basic Information Top
| Gene Symbol: | TRIP12 ( KIAA0045,MGC138849,MGC138850,ULF ) |
|---|---|
| Gene Full Name: | thyroid hormone receptor interactor 12 |
| Band: | 2q36.3 |
| Quick Links | Entrez ID:9320; OMIM: 604506; Uniprot ID:TRIPC_HUMAN; ENSEMBL ID: ENSG00000153827; HGNC ID: 12306 |
| 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 | 16 | 0 | 12 | 0 | 1 | 29 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 230701696 | G | A | PCR and MiSeq | Iossifov I, 2012 | ||||
| 2 | 230636299 | G | A | c.5519C>T | p.Ser1840Leu | PCR and Sanger sequencing | deleterious | 0.825 | O'Roak BJ, 2014 |
| 2 | 230650558 | C | T | c.4784G>A | p.Arg1595Gln | PCR and Sanger sequencing | deleterious | 0.5859 | O'Roak BJ, 2014 |
| 2 | 230666966 | AC | A | c.2981+1delG | PCR and Sanger sequencing | O'Roak BJ, 2014 | |||
| 2 | 230724181 | G | A/G | c.334C>T | p.Arg112* | Sanger sequencing | Wang T, 2016 | ||
| 2 | 230632431 | A | c.5920C>T | p.Arg1974Ter | Stessman HA, 2017 | ||||
| 2 | 230663998 | C | G | c.3226+1G>C | NA | Sanger sequencing | Takata A, 2018 | ||
| 2 | 230667043 | G | A | c.3050C>T | p.Thr1017Ile | Sanger sequencing | neutral | 0.0748 | Takata A, 2018 |
| 2 | 230668934 | GA | G | c.2578delT | p.Ser860fs | Sanger sequencing | Takata A, 2018 | ||
| 0 | c.3356+1G>A | p.(Ala1061 Glufs*16) | Bramswig NC, 2017 | ||||||
| 0 | c.2524+3dupA | p.(Ala791 Valfs*16) | Bramswig NC, 2017 | ||||||
| 0 | c.460_461delAG | p.(Ser154Phefs*10) | Bramswig NC, 2017 | ||||||
| 0 | c.2300C>T | p.(Ala767Val) | Bramswig NC, 2017 | ||||||
| 0 | c.5618C>T | p.(Ser1873Leu) | Bramswig NC, 2017 | ||||||
| 0 | c.4883G>A | p.(Arg1628Gln) | Bramswig NC, 2017 | ||||||
| 0 | c.1012C>T | p.(Arg338Ter) | Bramswig NC, 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 |
|---|---|---|---|---|---|---|---|---|---|
| c.14C>T | p.(Pro5Leu) | Bramswig NC, 2017 | |||||||
| 2 | 230632309 | Y | C/T | Y | Wang T, 2016 | ||||
| 2 | 230660028 | Y | C/T | Y | Wang T, 2016 | ||||
| 2 | 230723547 | S | C/G | Y | Wang T, 2016 | ||||
| 2 | 230723679 | R | A/G | Y | Wang T, 2016 | ||||
| 2 | 230725206 | S | C/G | Y | Wang T, 2016 | ||||
| 2 | 230650514 | Y | C/T | Y | Wang T, 2016 | ||||
| 2 | 230661473 | R | A/G | Y | Wang T, 2016 | ||||
| 2 | 230667106 | R | A/G | Y | Wang T, 2016 | ||||
| 2 | 230679005 | Y | C/T | Y | Wang T, 2016 | ||||
| 2 | 230724096 | R | A/G | Y | Wang T, 2016 | ||||
| 2 | 230724204 | K | G/T | Y | Wang T, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000096 | 2q36.3 | 2 | rs1917126 | 2.19 | - | - | Ma, 2007 |