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 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top