Variant Details for CNOT3
Basic Information Top
| Gene Symbol: | CNOT3 ( KIAA0691,LENG2,NOT3,NOT3H ) |
|---|---|
| Gene Full Name: | CCR4-NOT transcription complex, subunit 3 |
| Band: | 19q13.42 |
| Quick Links | Entrez ID:4849; OMIM: 604910; Uniprot ID:CNOT3_HUMAN; ENSEMBL ID: ENSG00000088038; HGNC ID: 7879 |
| 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 | 3 | 6 | 0 | 0 | 0 | 1 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000381 | 19 | 19q13.42 | 54408188 | 56708188 | 2300000 | external link | Zwaag, 2009 | |
| AutCNV0000380 | 19 | 19q13.42 | 54408188 | 56708188 | 2300000 | external link | Zwaag, 2009 | |
| AutCNV0005768 | 19 | gain | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 54656675 | * | 2D, -TG | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 19 | 54647460 | T | C | PCR or Sanger sequencing | deleterious | 0.7714 | Iossifov I, 2014 | ||
| 19 | 54649666 | T | TC | c.724_725insC | p.Pro244SerfsTer9 | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 19 | 54647460 | T | C | c.233T>C | p.Ile78Thr | PCR and Sanger sequencing | deleterious | 0.7714 | O'Roak BJ, 2014 |
| 19 | 54653359 | CAG | C | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 19 | 54653359 | CAG | C | HiSeq X and Sanger | C Yuen RK, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000142 | 19q13.42 | 19 | D19S572/D19S418 | - | - | 0.00167 | Lauritsen, 2006 |