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_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) |  | | ASD | - - |
- - | ||
| Maestrini, 2009_2 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 | 127 (-) | | | 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