Evidence Details for CPA2
Basic Information Top
| Gene Symbol: | CPA2 ( - ) |
|---|---|
| Gene Full Name: | carboxypeptidase A2 (pancreatic) |
| Band: | 7q32.2 |
| Quick Links | Entrez ID:1358; OMIM: 600688; Uniprot ID:CBPA2_HUMAN; ENSEMBL ID: ENSG00000158516; HGNC ID: 2297 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CPA2|1358|nucleotide
ATGGCCATGAGGTTGATCCTGTTTTTTGGTGCCCTTTTTGGGCATATCTACTGTCTAGAAACATTTGTGGGAGACCAAGTTCTTGAGATTGTACCAAGCAATGAA
GAACAAATTAAAAATCTGCTACAATTGGAGGCTCAAGAACATCTCCAGCTTGATTTTTGGAAATCACCCACCACCCCAGGGGAGACAGCCCACGTCCGAGTTCCC
TTCGTCAACGTCCAGGCAGTCAAAGTGTTCTTGGAGTCCCAGGGAATTGCCTATTCCATCATGATTGAAGACGTGCAGGTCCTGTTGGACAAAGAGAATGAAGAA
ATGCTTTTTAATAGGAGAAGAGAACGGAGTGGTAACTTCAATTTTGGGGCCTACCATACCCTGGAAGAGATTTCCCAAGAAATGGATAACCTCGTGGCTGAGCAC
CCTGGTCTAGTGAGCAAAGTGAATATTGGCTCTTCTTTTGAGAACCGGCCTATGAACGTGCTCAAGTTCAGCACCGGAGGAGACAAGCCAGCTATCTGGCTGGAT
GCTGGGATCCATGCTCGAGAGTGGGTTACACAAGCTACGGCACTTTGGACAGCAAATAAGATTGTTTCTGATTATGGAAAGGACCCATCCATCACTTCCATTCTG
GATGCCCTGGATATCTTCCTCCTGCCAGTCACAAACCCTGATGGATACGTGTTCTCTCAAACCAAAAATCGTATGTGGCGGAAGACCCGGTCCAAGGTATCTGGA
AGCCTCTGTGTTGGTGTGGATCCTAACCGGAACTGGGATGCAGGTTTTGGAGGACCTGGAGCCAGCAGCAACCCTTGCTCTGATTCATACCACGGACCCAGTGCC
AACTCTGAAGTTGAAGTGAAATCCATAGTGGACTTCATCAAGAGTCATGGAAAAGTCAAGGCCTTCATTACCCTCCACAGCTATTCCCAGCTGCTGATGTTCCCC
TATGGGTACAAATGTACCAAGTTAGATGACTTTGATGAGCTGAGTGAAGTGGCCCAAAAGGCTGCCCAATCTCTGAGAAGCCTGCATGGCACCAAGTACAAAGTG
GGACCAATCTGCTCTGTCATCTACCAAGCCAGTGGAGGAAGCATTGACTGGTCCTATGATTATGGCATCAAGTACTCATTTGCCTTTGAACTGAGAGACACAGGG
Show »
ATGGCCATGAGGTTGATCCTGTTTTTTGGTGCCCTTTTTGGGCATATCTACTGTCTAGAAACATTTGTGGGAGACCAAGTTCTTGAGATTGTACCAAGCAATGAA
GAACAAATTAAAAATCTGCTACAATTGGAGGCTCAAGAACATCTCCAGCTTGATTTTTGGAAATCACCCACCACCCCAGGGGAGACAGCCCACGTCCGAGTTCCC
TTCGTCAACGTCCAGGCAGTCAAAGTGTTCTTGGAGTCCCAGGGAATTGCCTATTCCATCATGATTGAAGACGTGCAGGTCCTGTTGGACAAAGAGAATGAAGAA
ATGCTTTTTAATAGGAGAAGAGAACGGAGTGGTAACTTCAATTTTGGGGCCTACCATACCCTGGAAGAGATTTCCCAAGAAATGGATAACCTCGTGGCTGAGCAC
CCTGGTCTAGTGAGCAAAGTGAATATTGGCTCTTCTTTTGAGAACCGGCCTATGAACGTGCTCAAGTTCAGCACCGGAGGAGACAAGCCAGCTATCTGGCTGGAT
GCTGGGATCCATGCTCGAGAGTGGGTTACACAAGCTACGGCACTTTGGACAGCAAATAAGATTGTTTCTGATTATGGAAAGGACCCATCCATCACTTCCATTCTG
GATGCCCTGGATATCTTCCTCCTGCCAGTCACAAACCCTGATGGATACGTGTTCTCTCAAACCAAAAATCGTATGTGGCGGAAGACCCGGTCCAAGGTATCTGGA
AGCCTCTGTGTTGGTGTGGATCCTAACCGGAACTGGGATGCAGGTTTTGGAGGACCTGGAGCCAGCAGCAACCCTTGCTCTGATTCATACCACGGACCCAGTGCC
AACTCTGAAGTTGAAGTGAAATCCATAGTGGACTTCATCAAGAGTCATGGAAAAGTCAAGGCCTTCATTACCCTCCACAGCTATTCCCAGCTGCTGATGTTCCCC
TATGGGTACAAATGTACCAAGTTAGATGACTTTGATGAGCTGAGTGAAGTGGCCCAAAAGGCTGCCCAATCTCTGAGAAGCCTGCATGGCACCAAGTACAAAGTG
GGACCAATCTGCTCTGTCATCTACCAAGCCAGTGGAGGAAGCATTGACTGGTCCTATGATTATGGCATCAAGTACTCATTTGCCTTTGAACTGAGAGACACAGGG
Show »
>CPA2|1358|protein
MAMRLILFFGALFGHIYCLETFVGDQVLEIVPSNEEQIKNLLQLEAQEHLQLDFWKSPTTPGETAHVRVPFVNVQAVKVFLESQGIAYSIMIEDVQVLLDKENEE
MLFNRRRERSGNFNFGAYHTLEEISQEMDNLVAEHPGLVSKVNIGSSFENRPMNVLKFSTGGDKPAIWLDAGIHAREWVTQATALWTANKIVSDYGKDPSITSIL
DALDIFLLPVTNPDGYVFSQTKNRMWRKTRSKVSGSLCVGVDPNRNWDAGFGGPGASSNPCSDSYHGPSANSEVEVKSIVDFIKSHGKVKAFITLHSYSQLLMFP
YGYKCTKLDDFDELSEVAQKAAQSLRSLHGTKYKVGPICSVIYQASGGSIDWSYDYGIKYSFAFELRDTGRYGFLLPARQILPTAEETWLGLKAIMEHVRDHPY
Show »
MAMRLILFFGALFGHIYCLETFVGDQVLEIVPSNEEQIKNLLQLEAQEHLQLDFWKSPTTPGETAHVRVPFVNVQAVKVFLESQGIAYSIMIEDVQVLLDKENEE
MLFNRRRERSGNFNFGAYHTLEEISQEMDNLVAEHPGLVSKVNIGSSFENRPMNVLKFSTGGDKPAIWLDAGIHAREWVTQATALWTANKIVSDYGKDPSITSIL
DALDIFLLPVTNPDGYVFSQTKNRMWRKTRSKVSGSLCVGVDPNRNWDAGFGGPGASSNPCSDSYHGPSANSEVEVKSIVDFIKSHGKVKAFITLHSYSQLLMFP
YGYKCTKLDDFDELSEVAQKAAQSLRSLHGTKYKVGPICSVIYQASGGSIDWSYDYGIKYSFAFELRDTGRYGFLLPARQILPTAEETWLGLKAIMEHVRDHPY
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 1 (3) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_2 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 | 127 (-) |  | | ASD | - - |
- - | ||
| Maestrini, 2009_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_5 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 (20.47%) | | | ASD | - - |
- | 188 (21.28%) |
- - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Schellenberg, 2006 | USA | microsatellite-based genomic screen | | | autism | 222 | - | 222 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.