AutismKB 2.0

Evidence Details for ZNF683


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Basic Information Top
Gene Symbol:ZNF683 ( MGC33414 )
Gene Full Name: zinc finger protein 683
Band: 1p36.11
Quick LinksEntrez ID:257101; OMIM: NA; Uniprot ID:ZN683_HUMAN; ENSEMBL ID: ENSG00000176083; HGNC ID: 28495
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF683|257101|nucleotide
ATGAAGGAAGAATCAGCTGCACAATTAGGTTGTTGTCATAGGCCCATGGCCCTGGGAGGTACAGGGGGCTCCCTGTCCCCCAGCCTGGACTTCCAGCTCTTCCGA
GGTGACCAGGTCTTCTCAGCCTGCAGACCACTTCCAGACATGGTGGATGCTCATGGCCCATCCTGTGCCAGCTGGCTGTGTCCCTTGCCCCTGGCACCGGGCAGG
TCTGCACTGCTGGCCTGCCTACAGGACCTGGACCTGAACCTGTGCACCCCACAGCCGGCACCCCTGGGCACAGACCTGCAGGGCCTCCAAGAGGACGCCTTGAGC
ATGAAGCACGAGCCACCAGGGCTGCAGGCCAGCTCCACCGATGACAAGAAATTCACAGTCAAGTACCCACAGAACAAGGACAAGCTGGGAAAACAGCCAGAAAGA
GCTGGCGAGGGGGCCCCCTGCCCAGCCTTCTCCTCTCATAACAGCTCTTCCCCACCACCGCTGCAGAACAGAAAGAGCCCCAGCCCCTTGGCTTTCTGCCCCTGT
CCCCCTGTCAACTCCATCTCCAAGGAGCTCCCATTTCTCCTCCACGCCTTCTACCCTGGATACCCACTTCTCCTGCCTCCACCCCACCTGTTCACCTATGGGGCC
CTACCTTCTGACCAATGTCCCCACCTCCTCATGCTGCCCCAAGACCCCTCCTACCCCACCATGGCTATGCCTAGCCTGCTGATGATGGTCAATGAGCTGGGGCAC
CCCAGCGCTCGGTGGGAGACCCTGCTTCCCTACCCAGGGGCCTTCCAAGCCTCTGGCCAAGCTCTGCCTTCCCAGGCCCGAAATCCAGGTGCTGGAGCTGCCCCA
ACCGACTCCCCAGGCCTGGAGCGTGGTGGCATGGCATCTCCAGCAAAGCGGGTCCCATTGAGTTCCCAGACAGGCACCGCAGCCTTGCCTTACCCGCTGAAAAAG
AAGAATGGCAAAATCCTGTACGAGTGCAACATATGTGGCAAGAGCTTTGGGCAGCTCTCCAATCTCAAGGTCCACCTGCGTGTGCACAGTGGAGAGCGTCCATTC
CAGTGTGCCTTGTGCCAGAAGAGCTTCACTCAACTTGCCCACCTGCAGAAGCACCACCTGGTGCACACTGGGGAGCGGCCCCACAAGTGCTCGGTGTGCCACAAG
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>ZNF683|257101|protein
MKEESAAQLGCCHRPMALGGTGGSLSPSLDFQLFRGDQVFSACRPLPDMVDAHGPSCASWLCPLPLAPGRSALLACLQDLDLNLCTPQPAPLGTDLQGLQEDALS
MKHEPPGLQASSTDDKKFTVKYPQNKDKLGKQPERAGEGAPCPAFSSHNSSSPPPLQNRKSPSPLAFCPCPPVNSISKELPFLLHAFYPGYPLLLPPPHLFTYGA
LPSDQCPHLLMLPQDPSYPTMAMPSLLMMVNELGHPSARWETLLPYPGAFQASGQALPSQARNPGAGAAPTDSPGLERGGMASPAKRVPLSSQTGTAALPYPLKK
KNGKILYECNICGKSFGQLSNLKVHLRVHSGERPFQCALCQKSFTQLAHLQKHHLVHTGERPHKCSVCHKRFSSSSNLKTHLRLHSGARPFQCSVCRSRFTQHIH
LKLHHRLHAPQPCGLVHTQLPLASLACLAQWHQGALDLMAVASEKHMGYDIDEVKVSSTSQGKARAVSLSSAGTPLVMGQDQNN
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018