AutismKB 2.0

Evidence Details for CPNE4


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Basic Information Top
Gene Symbol:CPNE4 ( COPN4,CPN4,MGC15604 )
Gene Full Name: copine IV
Band: 3q22.1
Quick LinksEntrez ID:131034; OMIM: 604208; Uniprot ID:CPNE4_HUMAN; ENSEMBL ID: ENSG00000196353; HGNC ID: 2317
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPNE4|131034|nucleotide
ATGAAGAAGATGAGCAACATTTATGAGTCCGCTGCCAACACACTGGGAATCTTTAACAGCCCCTGCCTGACCAAAGTTGAGCTGCGTGTGGCGTGCAAAGGCATT
TCTGACAGAGATGCCCTTTCCAAACCAGACCCCTGTGTCATCCTCAAGATGCAGTCTCATGGGCAGTGGTTTGAGGTTGACAGGACTGAGGTGATTCGCACCTGC
ATAAACCCAGTGTACTCAAAACTGTTTACTGTGGACTTTTACTTTGAGGAGGTGCAGCGCCTGCGGTTTGAAGTCCATGACATCAGCAGCAACCACAATGGGCTG
AAGGAGGCCGACTTCCTTGGTGGCATGGAGTGCACACTTGGCCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAA
TCTTCCATCACGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGATTTCTTCAGTAAATCT
GACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTC
AAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTC
ACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTGCAGTGGGAGTGCATCAATCCCAAGTACAAAGCCAAGAAGAAGAATTACAAGAACTCA
GGCACTGTGATTCTGAATCTGTGCAAGATTCACAAGATGCATTCTTTCTTGGACTACATCATGGGTGGCTGCCAAATCCAGTTTACAGTAGCTATAGATTTCACT
GCCTCAAACGGGGACCCCAGGAACAGCTGTTCCTTGCACTACATCCACCCTTACCAACCCAATGAGTATCTGAAAGCTTTGGTAGCTGTGGGGGAGATTTGCCAA
GACTATGACAGTGACAAAATGTTCCCTGCCTTTGGGTTTGGCGCCAGGATACCTCCAGAGTACACGGTCTCTCATGACTTTGCAATCAACTTTAATGAAGACAAC
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>CPNE4|131034|protein
MKKMSNIYESAANTLGIFNSPCLTKVELRVACKGISDRDALSKPDPCVILKMQSHGQWFEVDRTEVIRTCINPVYSKLFTVDFYFEEVQRLRFEVHDISSNHNGL
KEADFLGGMECTLGQIVSQRKLSKSLLKHGNTAGKSSITVIAEELSGNDDYVELAFNARKLDDKDFFSKSDPFLEIFRMNDDATQQLVHRTEVVMNNLSPAWKSF
KVSVNSLCSGDPDRRLKCIVWDWDSNGKHDFIGEFTSTFKEMRGAMEGKQVQWECINPKYKAKKKNYKNSGTVILNLCKIHKMHSFLDYIMGGCQIQFTVAIDFT
ASNGDPRNSCSLHYIHPYQPNEYLKALVAVGEICQDYDSDKMFPAFGFGARIPPEYTVSHDFAINFNEDNPECAGIQGVVEAYQSCLPKLQLYGPTNIAPIIQKV
AKSASEETNTKEASQYFILLILTDGVITDMADTREAIVHASHLPMSVIIVGVGNADFSDMQMLDGDDGILRSPKGEPVLRDIVQFVPFRNFKHASPAALAKSVLA
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top