AutismKB 2.0

Evidence Details for ZNF81


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Basic Information Top
Gene Symbol:ZNF81 ( FLJ44367,HFZ20,MRX45,dJ54B20.6 )
Gene Full Name: zinc finger protein 81
Band: Xp11.23
Quick LinksEntrez ID:347344; OMIM: 314998; Uniprot ID:ZNF81_HUMAN; ENSEMBL ID: ENSG00000197779; HGNC ID: 13156
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF81|347344|nucleotide
ATGCCAGCTAACGAGGACGCTCCCCAGCCAGGGGAACATGGCAGTGCCTGTGAGGTATCAGTGTCATTTGAGGATGTGACTGTGGACTTCAGTAGAGAGGAGTGG
CAGCAACTGGACTCTACTCAAAGACGCCTGTACCAGGATGTAATGTTGGAGAACTACAGCCACCTGCTCTCAGTGGGGTTCGAAGTTCCTAAACCAGAGGTCATC
TTCAAGTTGGAGCAAGGAGAGGGGCCATGGACATTGGAAGGGGAAGCCCCACATCAGAGCTGTTCAGATGGGAAATTTGGAATTAAGCCTTCCCAGAGGAGAATT
TCTGGGAAATCTACATTTCATAGTGAAATGGAGGGTGAAGACACAAGAGATGATTCATTATACTCTATTTTAGAAGAATTGTGGCAAGATGCTGAACAGATAAAG
AGATGTCAGGAAAAACACAACAAACTTCTGAGTCGCACTACTTTCCTCAATAAGAAAATATTGAATACAGAGTGGGATTATGAATATAAAGACTTTGGAAAATTT
GTTCATCCAAGCCCAAATCTCATTCTTTCACAGAAAAGACCCCATAAACGTGATTCATTTGGGAAGAGTTTTAAGCATAATTTAGACTTACATATTCATAATAAA
AGCAATGCAGCAAAGAACCTGGATAAAACTATTGGGCATGGTCAAGTTTTTACCCAGAACTCTTCTTATAGTCACCACGAAAATACACATACAGGAGTGAAGTTC
TGTGAACGTAATCAATGTGGAAAAGTCCTCAGCCTCAAACACTCACTCAGTCAAAATGTGAAATTTCCCATTGGAGAGAAAGCAAACACATGTACTGAATTTGGG
AAGATCTTCACCCAGAGGTCACATTTCTTTGCTCCTCAAAAAATTCATACTGTGGAAAAACCTCATGAGCTTAGCAAATGTGTAAATGTTTTTACACAGAAGCCA
CTACTCAGTATATATCTGAGAGTTCATAGAGATGAAAAACTCTACATATGTACTAAATGTGGGAAGGCCTTCATCCAGAATTCAGAATTAATTATGCATGAGAAA
ACTCATACTAGAGAGAAACCCTATAAATGCAATGAATGTGGGAAATCATTTTTCCAGGTGTCATCTCTACTCAGGCATCAGACAACTCATACTGGAGAAAAACTC
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>ZNF81|347344|protein
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSVGFEVPKPEVIFKLEQGEGPWTLEGEAPHQSCSDGKFGIKPSQRRI
SGKSTFHSEMEGEDTRDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKILNTEWDYEYKDFGKFVHPSPNLILSQKRPHKRDSFGKSFKHNLDLHIHNK
SNAAKNLDKTIGHGQVFTQNSSYSHHENTHTGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEKPHELSKCVNVFTQKP
LLSIYLRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKCNECGKSFFQVSSLLRHQTTHTGEKLFECSECGKGFSLNSALNIHQKIHTGERHHKCSECG
KAFTQKSTLRMHQRIHTGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFPSKSQLQMHKRIHTGEKPYICTECGKAFTNRSNLNTHQKSHTGEKS
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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) Yes 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked 45 (300498)
DescriptionNon-syndromic X-linked ID
Reference(s)15121780;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
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
Low Scale Gene Studies Top

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  (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