AutismKB 2.0

Evidence Details for CPE


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Basic Information Top
Gene Symbol:CPE ( - )
Gene Full Name: carboxypeptidase E
Band: 4q32.3
Quick LinksEntrez ID:1363; OMIM: 114855; Uniprot ID:CBPE_HUMAN; ENSEMBL ID: ENSG00000109472; HGNC ID: 2303
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPE|1363|nucleotide
ATGGCCGGGCGAGGGGGCAGCGCGCTGCTGGCTCTGTGCGGGGCACTGGCTGCCTGCGGGTGGCTCCTGGGCGCCGAAGCCCAGGAGCCCGGGGCGCCCGCGGCG
GGCATGAGGCGGCGCCGGCGGCTGCAGCAAGAGGACGGCATCTCCTTCGAGTACCACCGCTACCCCGAGCTGCGCGAGGCGCTCGTGTCCGTGTGGCTGCAGTGC
ACCGCCATCAGCAGGATTTACACGGTGGGGCGCAGCTTCGAGGGCCGGGAGCTCCTGGTCATCGAGCTGTCCGACAACCCTGGCGTCCATGAGCCTGGTGAGCCT
GAATTTAAATACATTGGGAATATGCATGGGAATGAGGCTGTTGGACGAGAACTGCTCATTTTCTTGGCCCAGTACCTATGCAACGAATACCAGAAGGGGAACGAG
ACAATTGTCAACCTGATCCACAGTACCCGCATTCACATCATGCCTTCCCTGAACCCAGATGGCTTTGAGAAGGCAGCGTCTCAGCCTGGTGAACTCAAGGACTGG
TTTGTGGGTCGAAGCAATGCCCAGGGAATAGATCTGAACCGGAACTTTCCAGACCTGGATAGGATAGTGTACGTGAATGAGAAAGAAGGTGGTCCAAATAATCAT
CTGTTGAAAAATATGAAGAAAATTGTGGATCAAAACACAAAGCTTGCTCCTGAGACCAAGGCTGTCATTCATTGGATTATGGATATTCCTTTTGTGCTTTCTGCC
AATCTCCATGGAGGAGACCTTGTGGCCAATTATCCATATGATGAGACGCGGAGTGGTAGTGCTCACGAATACAGCTCCTCCCCAGATGACGCCATTTTCCAAAGC
TTGGCCCGGGCATACTCTTCTTTCAACCCGGCCATGTCTGACCCCAATCGGCCACCATGTCGCAAGAATGATGATGACAGCAGCTTTGTAGATGGAACCACCAAC
GGTGGTGCTTGGTACAGCGTACCTGGAGGGATGCAAGACTTCAATTACCTTAGCAGCAACTGTTTTGAGATCACCGTGGAGCTTAGCTGTGAGAAGTTCCCACCT
GAAGAGACTCTGAAGACCTACTGGGAGGATAACAAAAACTCCCTCATTAGCTACCTTGAGCAGATACACCGAGGAGTTAAAGGATTTGTCCGAGACCTTCAAGGT
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>CPE|1363|protein
MAGRGGSALLALCGALAACGWLLGAEAQEPGAPAAGMRRRRRLQQEDGISFEYHRYPELREALVSVWLQCTAISRIYTVGRSFEGRELLVIELSDNPGVHEPGEP
EFKYIGNMHGNEAVGRELLIFLAQYLCNEYQKGNETIVNLIHSTRIHIMPSLNPDGFEKAASQPGELKDWFVGRSNAQGIDLNRNFPDLDRIVYVNEKEGGPNNH
LLKNMKKIVDQNTKLAPETKAVIHWIMDIPFVLSANLHGGDLVANYPYDETRSGSAHEYSSSPDDAIFQSLARAYSSFNPAMSDPNRPPCRKNDDDSSFVDGTTN
GGAWYSVPGGMQDFNYLSSNCFEITVELSCEKFPPEETLKTYWEDNKNSLISYLEQIHRGVKGFVRDLQGNPIANATISVEGIDHDVTSAKDGDYWRLLIPGNYK
LTASAPGYLAITKKVAVPYSPAAGVDFELESFSERKEEEKEELMEWWKMMSETLNF
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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 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Ramanathan, 2004 - STS mappingautism - - - - 1 - 1
Linkage Studies Top