Variant Details for SPEN
Basic Information Top
| Gene Symbol: | SPEN ( HIAA0929,KIAA0929,MINT,RBM15C,SHARP ) |
|---|---|
| Gene Full Name: | spen homolog, transcriptional regulator (Drosophila) |
| Band: | 1p36.21-p36.13 |
| Quick Links | Entrez ID:23013; OMIM: 613484; Uniprot ID:MINT_HUMAN; ENSEMBL ID: ENSG00000065526; HGNC ID: 17575 |
| 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 | 5 | 0 | 0 | 0 | 0 | 5 |
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 | 16235920 | A | C | Sanger sequencing | deleterious | 0.9211 | De Rubeis S, 2014 | ||
| 1 | 16261227 | G | C | PCR or Sanger sequencing | neutral | 0.1728 | Iossifov I, 2014 | ||
| 1 | 16258127 | C | T | Sanger sequencing | Yuen RK, 2016 | ||||
| 1 | 16258126 | C | T | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 1 | 16262656 | G | C | c.9921G>C | p.Arg3307Arg | Not_tested | Takata A, 2018 |
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! | |||||||