Variant Details for CELF2
Basic Information Top
| Gene Symbol: | CELF2 ( BRUNOL3,CUGBP2,ETR-3,ETR3,NAPOR ) |
|---|---|
| Gene Full Name: | CUGBP, Elav-like family member 2 |
| Band: | 10p14 |
| Quick Links | Entrez ID:10659; OMIM: 602538; Uniprot ID:CELF2_HUMAN; ENSEMBL ID: ENSG00000048740; HGNC ID: 2550 |
| 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 | 3 | 6 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 11330451 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 10 | 11299713 | - | A | Sanger sequencing | Yuen RK, 2016 | ||||
| 10 | 11299712 | GAAAA | GAAAAA | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000050 | 10p14 | 10 | D10S1412 | 2.16 | - | - | Risch, 1999 |
| AutLD0000089 | 10p14 | 10 | D10S1412 | - | 1.52 | - | Buxbaum, 2004 |
| AutLD0000080 | 10p14 | 10 | D10S189 | 1.15 | - | - | Lamb, 2005 |