Variant Details for ITPKB
Basic Information Top
Gene Symbol: | ITPKB ( IP3-3KB,IP3K,IP3K-B,IP3KB,PIG37 ) |
---|---|
Gene Full Name: | inositol 1,4,5-trisphosphate 3-kinase B |
Band: | 1q42.12 |
Quick Links | Entrez ID:3707; OMIM: 147522; Uniprot ID:IP3KB_HUMAN; ENSEMBL ID: ENSG00000143772; HGNC ID: 6179 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 1 | 0 | 0 | 0 | 0 | 1 | 2 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0001402 | 1 | 1q42.12 | 226810146 | 226884755 | 74609 | gain | external link | Pinto, 2010 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |
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 |
---|---|---|---|---|---|---|---|
AutLD0000083 | 1q42.1 | 1 | D1S1656 | - | 1.5 | - | Buxbaum, 2004 |