AutismKB 2.0

Evidence Details for CPNE7


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Basic Information Top
Gene Symbol:CPNE7 ( MGC34192 )
Gene Full Name: copine VII
Band: 16q24.3
Quick LinksEntrez ID:27132; OMIM: 605689; Uniprot ID:CPNE7_HUMAN; ENSEMBL ID: ENSG00000178773; HGNC ID: 2320
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPNE7|27132|nucleotide
ATGAGCGCGGGCTCGGAGCGCGGGGCGGCGGCAACCCCCGGGGGTTTGCCCGCGCCCTGCGCCTCGAAGGTGGAGCTGCGGCTCAGCTGCCGGCACCTGCTGGAC
CGCGACCCGCTCACCAAGTCCGACCCCAGCGTGGCGTTGCTGCAGCAGGCGCAGGGCCAGTGGGTGCAGGTGGGCAGAACCGAGGTGGTCCGGAGCAGCCTGCAT
CCCGTGTTCTCCAAGGTCTTCACGGTGGACTACTACTTCGAGGAGGTGCAGAGGCTGCGCTTTGAGGTGTACGACACGCATGGGCCCAGCGGCTTCAGCTGTCAG
GAGGACGATTTCCTGGGGGGCATGGAGTGCACCCTGGGGCAGCCAGCCCAAAAGTGGCTTCTGCAAGTCGTGATGAGAGTGTCTGTTGATGTGCTGGGCCCTGCT
GGACACTGCGCTAAGCACTTCCTGTGCTGCACGGAATCCTCACACCTTGCCAGGACGGGTCCTTCTTTTTTATTGAGGTATGATGACCTCTGCCTCCCCTGGGCG
ACTGCTGGCGCCGTGAGGTGGTGGACGTGCAGGGGTGGCCACACGCAGGGATGGCAGATTGTGGCCCAGAAGAAGGTGACCCGCCCGCTGCTGCTCAAGTTTGGC
AGGAACGCTGGCAAGTCCACCATCACGGTGATCGCCGAGGACATCTCGGGGAACAACGGCTACGTGGAGCTCTCCTTCCGGGCCAGGAAGCTGGACGACAAGGAC
CTCTTCAGCAAGTCCGACCCCTTCCTGGAGCTCTACAGGGTCAACGACGACCAGGGCTTGCAGCTGGTGTACAGGACGGAGGTGGTGAAGAACAACCTGAACCCG
GTGTGGGAGGCCTTCAAAGTCTCTCTGAGTTCCCTCTGCAGCTGCGAGGAGACAAGGCCTCTAAAGTGCCTGGTCTGGGATTACGACTCTCGAGGAAAGCACGAC
TTCATCGGAGAATTCTCTACCACCTTCGAGGAGATGCAGAAGGCCTTTGAGGAGGGGCAGGCCCAGTGGGACTGTGTGAACCCCAAATACAAGCAGAAGAGACGC
AGTTATAAGAACTCAGGAGTGGTCGTCCTGGCTGACCTCAAGTTCCACAGGGTGTACTCCTTCCTGGACTATATCATGGGCGGCTGCCAGATCCACTTCACCGTG
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>CPNE7|27132|protein
MSAGSERGAAATPGGLPAPCASKVELRLSCRHLLDRDPLTKSDPSVALLQQAQGQWVQVGRTEVVRSSLHPVFSKVFTVDYYFEEVQRLRFEVYDTHGPSGFSCQ
EDDFLGGMECTLGQPAQKWLLQVVMRVSVDVLGPAGHCAKHFLCCTESSHLARTGPSFLLRYDDLCLPWATAGAVRWWTCRGGHTQGWQIVAQKKVTRPLLLKFG
RNAGKSTITVIAEDISGNNGYVELSFRARKLDDKDLFSKSDPFLELYRVNDDQGLQLVYRTEVVKNNLNPVWEAFKVSLSSLCSCEETRPLKCLVWDYDSRGKHD
FIGEFSTTFEEMQKAFEEGQAQWDCVNPKYKQKRRSYKNSGVVVLADLKFHRVYSFLDYIMGGCQIHFTVAIDFTASNGDPRNSCSLHYINPYQPNEYLKALVSV
GEICQDYDSDKRFSALGFGARIPPKYEVSHDFAINFNPEDDECEGIQGVVEAYQNCLPRVQLYGPTNVAPIISKVARVAAAEESTGKASQYYILLILTDGVVTDM
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Evidence summary Top

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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) 1 (2) 0 (0) 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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top