Variant Details for CPA1
Basic Information Top
Gene Symbol: | CPA1 ( CPA ) |
---|---|
Gene Full Name: | carboxypeptidase A1 (pancreatic) |
Band: | 7q32.2 |
Quick Links | Entrez ID:1357; OMIM: 114850; Uniprot ID:CBPA1_HUMAN; ENSEMBL ID: ENSG00000091704; HGNC ID: 2296 |
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 | 0 | 1 | 0 | 0 | 0 | 3 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
No related data! |
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 |
---|---|---|---|---|---|---|---|---|---|
7 | 130025065 | T | C | Sanger sequencing | deleterious | 0.7626 | De Rubeis S, 2014 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000077 | 7q32.1-32.3 | 7 | D7S530/D7S640 | 2.31 | - | - | Lamb, 2005 |
AutLD0000065 | 7q32 | 7 | D7S530 | - | - | 0.0006 | Schellenberg, 2006 |
AutLD0000153 | 7q31.31-q32.3 | 7 | rs1990790 | 1.97 | - | - | Allen-Brady, 2010 |