Variant Details for ITPR1
Basic Information Top
| Gene Symbol: | ITPR1 ( DKFZp313E1334,DKFZp313N1434,INSP3R1,IP3R,IP3R1,SCA15,SCA16 ) |
|---|---|
| Gene Full Name: | inositol 1,4,5-triphosphate receptor, type 1 |
| Band: | 3p26.1 |
| Quick Links | Entrez ID:3708; OMIM: 147265; Uniprot ID:ITPR1_HUMAN; ENSEMBL ID: ENSG00000150995; HGNC ID: 6180 |
| 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 | 3 | 0 | 18 | 0 | 0 | 24 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000729 | 3 | 3p25.3-pter | 60000 | 10093676 | 10033676 | gain | external link | Bremer, 2011 |
| AutCNV0004216 | 3 | 3p26.2 | 4158580 | 4877348 | 718768 | loss | external link | Sanders, 2011 |
| AutCNV0003802 | 3 | 3p26.2 | 4158021 | 4879563 | 721542 | loss | external link | Levy, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 4703923 | G | C | Sanger sequencing | deleterious | 0.956 | De Rubeis S, 2014 | ||
| 3 | 4752093 | G | A/G | c.4900G>A | p.Glu1619Lys | Sanger sequencing | neutral | 0.2497 | Wang T, 2016 |
| 0 | p.Thr267-p.Arg269 | Geisheker MR, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 4558240 | C | C/T | Y | Wang T, 2016 | ||||
| 3 | 4562755 | A | A/G | Y | Wang T, 2016 | ||||
| 3 | 4712442 | G | G/T | Y | Wang T, 2016 | ||||
| 3 | 4714966 | G | A/G | Y | Wang T, 2016 | ||||
| 3 | 4718405 | G | A/G | Y | Wang T, 2016 | ||||
| 3 | 4741615 | C | C/T | Y | Wang T, 2016 | ||||
| 3 | 4776935 | A | A/T | Y | Wang T, 2016 | ||||
| 3 | 4808230 | G | C/G | Y | Wang T, 2016 | ||||
| 3 | 4722295 | G | A/G | Y | Wang T, 2016 | ||||
| 3 | 4767233 | C | A/C | Y | Wang T, 2016 | ||||
| 3 | 4693880 | C | C/T | Y | Wang T, 2016 | ||||
| 3 | 4716870 | C | C/G | Y | Wang T, 2016 | ||||
| 3 | 4747976 | C | C/T | Y | Wang T, 2016 | ||||
| 3 | 4768829 | C | C/T | Y | Wang T, 2016 | ||||
| 3 | 4776967 | A | A/T | Y | Wang T, 2016 | ||||
| 3 | 4810254 | G | A/G | Y | Wang T, 2016 | ||||
| 3 | 4836846 | C | C/G | Y | Wang T, 2016 | ||||
| 3 | 4836866 | G | A/G | Y | Wang T, 2016 |
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! | |||||||