AutismKB 2.0

Evidence Details for ZNF384


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Basic Information Top
Gene Symbol:ZNF384 ( CAGH1,CAGH1A,CIZ,ERDA2,FLJ59043,NMP4,NP,TNRC1 )
Gene Full Name: zinc finger protein 384
Band: 12p13.31
Quick LinksEntrez ID:171017; OMIM: 609951; Uniprot ID:ZN384_HUMAN; ENSEMBL ID: ENSG00000126746; HGNC ID: 11955
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF384|171017|nucleotide
ATGGAAGAATCTCACTTCAATTCTAACCCGTACTTCTGGCCTTCTATCCCCACAGTCTCAGGTCAGATCGAGAACACAATGTTCATCAACAAGATGAAGGATCAG
CTGTTGCCAGAGAAGGGCTGTGGTCTGGCCCCACCTCACTACCCCACCTTGCTGACAGTGCCTGCCTCAGTGTCCCTGCCCTCAGGCATCAGTATGGACACAGAG
TCCAAGTCAGACCAGCTGACCCCACACAGCCAAGCGTCCGTTACCCAGAATATCACGGTGGTCCCTGTGCCGTCTACAGGACTGATGACTGCTGGAGTCTCCTGT
TCTCAGAGGTGGAGAAGAGAAGGGAGTCAATCAAGGGGTCCGGGTTTGGTAATCACGTCCCCCTCAGGCTCTCTTGTGACCACAGCATCATCAGCTCAGACCTTC
CCCATTTCGGCTCCCATGATTGTCTCAGCTCTTCCCCCTGGCTCACAAGCCCTGCAGGTTGTCCCTGACCTCTCCAAGAAGGTAGCATCGACCCTAACCGAGGAA
GGAGGCGGAGGTGGTGGTGGAGGTGGCAGTGTGGCTCCTAAGCCACCCCGGGGCCGGAAGAAGAAGCGGATGCTGGAATCAGGGCTGCCCGAGATGAATGACCCT
TATGTCCTCTCCCCTGAGGATGATGATGACCATCAGAAAGACGGCAAGACCTACAGGTGCCGGATGTGCTCACTGACATTCTACTCCAAGTCGGAGATGCAGATC
CACTCCAAGTCACACACCGAGACCAAGCCCCACAAGTGCCCACATTGCTCCAAGACCTTCGCCAACAGCTCCTACCTGGCCCAGCACATCCGTATACACTCAGGG
GCTAAGCCCTACAGTTGTAACTTCTGTGAGAAATCCTTCCGCCAGCTCTCCCACCTTCAGCAGCACACCCGAATCCACACTGGTGATAGACCATACAAATGTGCA
CACCCAGGCTGTGAGAAAGCCTTCACACAACTCTCCAATCTGCAGTCCCACAGACGGCAACACAACAAAGATAAACCCTTCAAGTGCCACAACTGTCATCGGGCG
TACACGGATGCAGCCTCACTAGAGGTGCACCTGTCTACGCACACAGTGAAGCATGCCAAGGTGTACACCTGCACTATCTGCAGTCGGGCATACACATCAGAAACA
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>ZNF384|171017|protein
MEESHFNSNPYFWPSIPTVSGQIENTMFINKMKDQLLPEKGCGLAPPHYPTLLTVPASVSLPSGISMDTESKSDQLTPHSQASVTQNITVVPVPSTGLMTAGVSC
SQRWRREGSQSRGPGLVITSPSGSLVTTASSAQTFPISAPMIVSALPPGSQALQVVPDLSKKVASTLTEEGGGGGGGGGSVAPKPPRGRKKKRMLESGLPEMNDP
YVLSPEDDDDHQKDGKTYRCRMCSLTFYSKSEMQIHSKSHTETKPHKCPHCSKTFANSSYLAQHIRIHSGAKPYSCNFCEKSFRQLSHLQQHTRIHTGDRPYKCA
HPGCEKAFTQLSNLQSHRRQHNKDKPFKCHNCHRAYTDAASLEVHLSTHTVKHAKVYTCTICSRAYTSETYLMKHMRKHNPPDLQQQVQAAAAAAAVAQAQAQAQ
AQAQAQAQAQAQAQASQASQQQQQQQQQQQQQQQQPPPHFQSPGAAPQGGGGGDSNPNPPPQCSFDLTPYKTAEHHKDICLTVTTSTIQVEHLASS
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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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top