AutismKB 2.0

Evidence Details for CPA1


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Basic Information Top
Gene Symbol:CPA1 ( CPA )
Gene Full Name: carboxypeptidase A1 (pancreatic)
Band: 7q32.2
Quick LinksEntrez 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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>CPA1|1357|protein
MRGLLVLSVLLGAVFGKEDFVGHQVLRISVADEAQVQKVKELEDLEHLQLDFWRGPAHPGSPIDVRVPFPSIQAVKIFLESHGISYETMIEDVQSLLDEEQEQMF
AFRSRARSTDTFNYATYHTLEEIYDFLDLLVAENPHLVSKIQIGNTYEGRPIYVLKFSTGGSKRPAIWIDTGIHSREWVTQASGVWFAKKITQDYGQDAAFTAIL
DTLDIFLEIVTNPDGFAFTHSTNRMWRKTRSHTAGSLCIGVDPNRNWDAGFGLSGASSNPCSETYHGKFANSEVEVKSIVDFVKDHGNIKAFISIHSYSQLLMYP
YGYKTEPVPDQDELDQLSKAAVTALASLYGTKFNYGSIIKAIYQASGSTIDWTYSQGIKYSFTFELRDTGRYGFLLPASQIIPTAKETWLALLTIMEHTLNHPY

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Evidence summary Top

Click 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 Top
Genome-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 Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Schellenberg, 2006 USA microsatellite-based genomic screenautism 222 - 222 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
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 Top
NGS 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 Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018