Variant Details for PCYT1B
Basic Information Top
Gene Symbol: | PCYT1B ( CCTB,CTB ) |
---|---|
Gene Full Name: | phosphate cytidylyltransferase 1, choline, beta |
Band: | Xp22.11 |
Quick Links | Entrez ID:9468; OMIM: 604926; Uniprot ID:PCY1B_HUMAN; ENSEMBL ID: ENSG00000102230; HGNC ID: 8755 |
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 | 5 | 0 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0002223 | X | Xp22.11 | 24177440 | 24702392 | 524952 | gain | external link | Pinto, 2010 |
AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 2011 |
AutCNV0003791 | X | Xp22.11 | 24186989 | 24668267 | 481278 | gain | external link | Gai, 2011 |
AutCNV0003790 | X | Xp22.11 | 24179042 | 24668267 | 489225 | gain | external link | Gai, 2011 |
AutCNV0005861 | X | "Xp22.11,Xp21.3" | 24513979 | 27864451 | 3350472 | gain | external link | Egger G, 2014 |
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 |
---|---|---|---|---|---|---|---|
No related data! |