AutismKB 2.0

Evidence Details for CPNE2


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Basic Information Top
Gene Symbol:CPNE2 ( COPN2,CPN2,DKFZp686E06199,MGC16924 )
Gene Full Name: copine II
Band: 16q13
Quick LinksEntrez ID:221184; OMIM: 604206; Uniprot ID:CPNE2_HUMAN; ENSEMBL ID: ENSG00000140848; HGNC ID: 2315
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPNE2|221184|nucleotide
ATGGCCCACATACCCAGTGGGGGTGCCCCAGCAGCGGGGGCAGCCCCCATGGGCCCCCAGTATTGCGTGTGCAAGGTGGAGCTGTCAGTGAGTGGCCAGAACCTA
CTGGACCGGGATGTTACCTCCAAGTCCGACCCCTTCTGTGTCCTCTTTACAGAGAACAATGGCAGATGGATCGAGTACGACAGGACAGAAACCGCGATCAACAAC
CTCAACCCCGCCTTCTCCAAGAAGTTCGTGCTTGACTACCACTTCGAGGAGGTACAGAAGCTCAAGTTCGCGCTCTTTGACCAGGACAAGTCCAGTATGCGGCTG
GACGAGCATGACTTCCTGGGCCAGTTCTCCTGCAGCCTGGGCACGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGG
AAGGGCTTGATTACGATCGCTGCCCAGGAGCTGTCCGACAACCGCGTCATCACACTAAGCCTGGCGGGCAGGAGGCTGGACAAGAAGGACCTCTTTGGGAAGTCA
GACCCCTTTCTGGAGTTTTATAAGCCAGGAGACGATGGCAAGTGGATGCTGGTCCACAGGACTGAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTC
ACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTCATGTGCTACGACTATGACAATGACGGGGGCCATGACTTCATCGGCGAGTTC
CAGACCTCAGTGTCACAGATGTGTGAGGCTCGAGACAGCGTCCCGCTGGAGTTCGAGTGCATCAACCCCAAGAAGCAGAGGAAGAAGAAGAACTATAAAAACTCG
GGCATCATCATCCTGCGATCCTGCAAGATAAACCGAGACTACTCCTTCCTTGACTACATCCTGGGAGGCTGCCAGCTCATGTTCACCGTTGGAATAGACTTTACA
GCCTCCAACGGGAATCCCCTCGACCCTTCCTCTTTGCACTATATCAACCCTATGGGCACCAACGAATATCTGTCGGCCATCTGGGCTGTTGGGCAGATCATTCAG
GACTACGACAGTGATAAGATGTTTCCAGCTCTGGGATTCGGGGCCCAGTTACCCCCAGACTGGAAGGTCTCCCATGAGTTTGCCATCAACTTCAACCCCACCAAC
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>CPNE2|221184|protein
MAHIPSGGAPAAGAAPMGPQYCVCKVELSVSGQNLLDRDVTSKSDPFCVLFTENNGRWIEYDRTETAINNLNPAFSKKFVLDYHFEEVQKLKFALFDQDKSSMRL
DEHDFLGQFSCSLGTIVSSKKITRPLLLLNDKPAGKGLITIAAQELSDNRVITLSLAGRRLDKKDLFGKSDPFLEFYKPGDDGKWMLVHRTEVIKYTLDPVWKPF
TVPLVSLCDGDMEKPIQVMCYDYDNDGGHDFIGEFQTSVSQMCEARDSVPLEFECINPKKQRKKKNYKNSGIIILRSCKINRDYSFLDYILGGCQLMFTVGIDFT
ASNGNPLDPSSLHYINPMGTNEYLSAIWAVGQIIQDYDSDKMFPALGFGAQLPPDWKVSHEFAINFNPTNPFCSGVDGIAQAYSACLPHIRFYGPTNFSPIVNHV
ARFAAQATQQRTATQYFILLIITDGVISDMEETRHAVVQASKLPMSIIIVGVGNADFAAMEFLDGDSRMLRSHTGEEAARDIVQFVPFREFRNAAKETLAKAVLA
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top