Variant Details for CSDE1
Basic Information Top
| Gene Symbol: | CSDE1 ( D1S155E,DKFZp779B0247,DKFZp779J1455,FLJ26882,RP5-1000E10.3,UNR ) |
|---|---|
| Gene Full Name: | cold shock domain containing E1, RNA-binding |
| Band: | 1p13.2 |
| Quick Links | Entrez ID:7812; OMIM: 191510; Uniprot ID:CSDE1_HUMAN; ENSEMBL ID: ENSG00000009307; HGNC ID: 29905 |
| 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 | 3 | 0 | 0 | 0 | 0 | 3 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 115280664 | G | R | p.Arg123Unk | Sanger sequencing | Sanders SJ, 2012 | |||
| 1 | 115276416 | G | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 115268874 | A | G | c.1736T>C | p.Ile579Thr | PCR and Sanger sequencing | neutral | 0.2936 | O'Roak BJ, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||