Evidence 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 |
Sequences Top>CPA1|1357|nucleotide
ATGCGGGGGTTGCTGGTGTTGAGTGTCCTGTTGGGGGCTGTCTTTGGCAAGGAGGACTTTGTGGGGCATCAGGTGCTCCGAATCTCTGTAGCCGATGAGGCCCAG
GTACAGAAGGTGAAGGAGCTGGAGGACCTGGAGCACCTGCAGCTGGACTTCTGGCGGGGGCCTGCCCACCCTGGCTCCCCCATCGACGTCCGAGTGCCCTTCCCC
AGCATCCAGGCGGTCAAGATCTTTCTGGAGTCCCACGGCATCAGCTATGAGACCATGATCGAGGACGTGCAGTCGCTGCTGGACGAGGAGCAGGAGCAGATGTTC
GCCTTCCGGTCCCGGGCGCGCTCCACCGACACTTTTAACTACGCCACCTACCACACCCTGGAGGAGATCTATGACTTCCTGGACCTGCTGGTGGCGGAGAACCCG
CACCTTGTCAGCAAGATCCAGATTGGCAACACCTATGAAGGGCGTCCCATTTACGTGCTGAAGTTCAGCACGGGGGGCAGTAAGCGTCCAGCCATCTGGATCGAC
ACGGGCATCCATTCCCGGGAGTGGGTCACCCAGGCCAGTGGGGTCTGGTTTGCAAAGAAGATCACTCAAGACTACGGGCAGGATGCAGCTTTCACCGCCATTCTC
GACACCTTGGACATCTTCCTGGAGATCGTCACCAACCCTGATGGCTTTGCCTTCACGCACAGCACGAATCGCATGTGGCGCAAGACTCGGTCCCACACAGCAGGC
TCCCTCTGTATTGGCGTGGACCCCAACAGGAACTGGGACGCTGGCTTTGGGTTGTCCGGAGCCAGCAGTAACCCCTGCTCGGAGACTTACCACGGCAAGTTTGCC
AATTCCGAAGTGGAGGTCAAGTCCATTGTAGACTTTGTGAAGGACCATGGGAACATCAAGGCCTTCATCTCCATCCACAGCTACTCCCAGCTCCTCATGTATCCC
TATGGCTACAAAACAGAACCAGTCCCTGACCAGGATGAGCTGGATCAGCTTTCCAAGGCTGCTGTGACAGCCCTGGCCTCTCTCTACGGGACCAAGTTCAACTAT
GGCAGCATCATCAAGGCAATTTATCAAGCCAGTGGAAGCACTATTGACTGGACCTACAGCCAGGGCATCAAGTACTCCTTCACCTTCGAGCTCCGGGACACTGGG
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ATGCGGGGGTTGCTGGTGTTGAGTGTCCTGTTGGGGGCTGTCTTTGGCAAGGAGGACTTTGTGGGGCATCAGGTGCTCCGAATCTCTGTAGCCGATGAGGCCCAG
GTACAGAAGGTGAAGGAGCTGGAGGACCTGGAGCACCTGCAGCTGGACTTCTGGCGGGGGCCTGCCCACCCTGGCTCCCCCATCGACGTCCGAGTGCCCTTCCCC
AGCATCCAGGCGGTCAAGATCTTTCTGGAGTCCCACGGCATCAGCTATGAGACCATGATCGAGGACGTGCAGTCGCTGCTGGACGAGGAGCAGGAGCAGATGTTC
GCCTTCCGGTCCCGGGCGCGCTCCACCGACACTTTTAACTACGCCACCTACCACACCCTGGAGGAGATCTATGACTTCCTGGACCTGCTGGTGGCGGAGAACCCG
CACCTTGTCAGCAAGATCCAGATTGGCAACACCTATGAAGGGCGTCCCATTTACGTGCTGAAGTTCAGCACGGGGGGCAGTAAGCGTCCAGCCATCTGGATCGAC
ACGGGCATCCATTCCCGGGAGTGGGTCACCCAGGCCAGTGGGGTCTGGTTTGCAAAGAAGATCACTCAAGACTACGGGCAGGATGCAGCTTTCACCGCCATTCTC
GACACCTTGGACATCTTCCTGGAGATCGTCACCAACCCTGATGGCTTTGCCTTCACGCACAGCACGAATCGCATGTGGCGCAAGACTCGGTCCCACACAGCAGGC
TCCCTCTGTATTGGCGTGGACCCCAACAGGAACTGGGACGCTGGCTTTGGGTTGTCCGGAGCCAGCAGTAACCCCTGCTCGGAGACTTACCACGGCAAGTTTGCC
AATTCCGAAGTGGAGGTCAAGTCCATTGTAGACTTTGTGAAGGACCATGGGAACATCAAGGCCTTCATCTCCATCCACAGCTACTCCCAGCTCCTCATGTATCCC
TATGGCTACAAAACAGAACCAGTCCCTGACCAGGATGAGCTGGATCAGCTTTCCAAGGCTGCTGTGACAGCCCTGGCCTCTCTCTACGGGACCAAGTTCAACTAT
GGCAGCATCATCAAGGCAATTTATCAAGCCAGTGGAAGCACTATTGACTGGACCTACAGCCAGGGCATCAAGTACTCCTTCACCTTCGAGCTCCGGGACACTGGG
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>CPA1|1357|protein
MRGLLVLSVLLGAVFGKEDFVGHQVLRISVADEAQVQKVKELEDLEHLQLDFWRGPAHPGSPIDVRVPFPSIQAVKIFLESHGISYETMIEDVQSLLDEEQEQMF
AFRSRARSTDTFNYATYHTLEEIYDFLDLLVAENPHLVSKIQIGNTYEGRPIYVLKFSTGGSKRPAIWIDTGIHSREWVTQASGVWFAKKITQDYGQDAAFTAIL
DTLDIFLEIVTNPDGFAFTHSTNRMWRKTRSHTAGSLCIGVDPNRNWDAGFGLSGASSNPCSETYHGKFANSEVEVKSIVDFVKDHGNIKAFISIHSYSQLLMYP
YGYKTEPVPDQDELDQLSKAAVTALASLYGTKFNYGSIIKAIYQASGSTIDWTYSQGIKYSFTFELRDTGRYGFLLPASQIIPTAKETWLALLTIMEHTLNHPY
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MRGLLVLSVLLGAVFGKEDFVGHQVLRISVADEAQVQKVKELEDLEHLQLDFWRGPAHPGSPIDVRVPFPSIQAVKIFLESHGISYETMIEDVQSLLDEEQEQMF
AFRSRARSTDTFNYATYHTLEEIYDFLDLLVAENPHLVSKIQIGNTYEGRPIYVLKFSTGGSKRPAIWIDTGIHSREWVTQASGVWFAKKITQDYGQDAAFTAIL
DTLDIFLEIVTNPDGFAFTHSTNRMWRKTRSHTAGSLCIGVDPNRNWDAGFGLSGASSNPCSETYHGKFANSEVEVKSIVDFVKDHGNIKAFISIHSYSQLLMYP
YGYKTEPVPDQDELDQLSKAAVTALASLYGTKFNYGSIIKAIYQASGSTIDWTYSQGIKYSFTFELRDTGRYGFLLPASQIIPTAKETWLALLTIMEHTLNHPY
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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 (1) | 0 (0) | 1 (3) | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 16 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
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) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Bonora, 2002_1 | IMGSAC | PCR-RFLP | 169 | 341 (-) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS 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.