AutismKB 2.0

Evidence Details for ZNF182


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Basic Information Top
Gene Symbol:ZNF182 ( HHZ150,KOX14,MGC125383,MGC131713,ZNF21,Zfp182 )
Gene Full Name: zinc finger protein 182
Band: Xp11.23
Quick LinksEntrez ID:7569; OMIM: 314993; Uniprot ID:ZN182_HUMAN; ENSEMBL ID: ENSG00000147118; HGNC ID: 13001
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF182|7569|nucleotide
ATGGCCAAACCCCAGGGGCTAGTGACATTTGAAGATGTAGCTGTGGATTTCACCCAGGAGGAGTGGCAGTACCTGAACCCACCACAGAGGACCCTGTACAGAGAC
GTGATGCTGGAGACCTACAGCAACTTGGTCTTTGTGGGGCAGCAGGTTACCAAACCAAACCTCATCCTCAAGTTGGAGGTAGAAGAATGCCCGGCAGAAGGAAAA
ATCCCATTTTGGAACTTTCCAGAAGTCTGTCAAGTTGATGAACAGATTGAGAGGCAACATCAGGATGACCAAGATAAATGTCTGCTGATGCAAGTTGGATTTTCT
GACAAGAAAACAATTATCACCAAGAGTGCTCGTGACTGTCATGAGTTTGGAAACATACTTCATCTGAGTACAAACCTTGTTGCTTCAATACAAAGACCCGATAAA
CACGAATCATTTGGAAATAATATGGTAGATAATTTAGACTTATTTAGTAGAAGTTCTGCAGAAAATAAATATGATAATGGATGTGCAAAATTGTTCTTCCATACT
GAGTATGAGAAAACAAATCCTGGAATGAAGCCCTATGGCTATAAAGAGTGTGGGAAAGGTCTTAGGCGAAAGAAAGGCCTTAGTCTACATCAGAGAATTAAAAAT
GGAGAGAAACCCTTTGAATGTACTGCATGTAGGAAAACCTTCAGCAAGAAGTCACACCTCATTGTACATTGGAGAACTCATACGGGAGAGAAACCTTTTGGATGT
ACCGAATGTGGAAAAGCTTTTAGCCAAAAATCTCAGCTCATTATACACTTGCGAACTCATACAGGAGAGAGACCCTTTGAGTGTCCTGAATGTGGAAAAGCCTTC
AGAGAAAAGTCAACTGTCATCATACATTACAGGACTCACACAGGAGAAAAACCTTATGAATGTAATGAATGTGGAAAAGCCTTCACTCAGAAGTCCAACCTCATT
GTCCATCAGAAAACCCACACTGGAGAGAAAACCTATGAATGCACTAAATGTGGAGAATCTTTCATACAGAAGCTTGATCTAATTATACATCATAGTACCCATACA
GGAAAGAAACCCCATGAATGTAATGAGTGTAAGAAAACTTTCAGTGATAAGTCAACTCTCATTATACACCAGAGAACTCATACGGGAGAGAAACCTCATAAATGT
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>ZNF182|7569|protein
MAKPQGLVTFEDVAVDFTQEEWQYLNPPQRTLYRDVMLETYSNLVFVGQQVTKPNLILKLEVEECPAEGKIPFWNFPEVCQVDEQIERQHQDDQDKCLLMQVGFS
DKKTIITKSARDCHEFGNILHLSTNLVASIQRPDKHESFGNNMVDNLDLFSRSSAENKYDNGCAKLFFHTEYEKTNPGMKPYGYKECGKGLRRKKGLSLHQRIKN
GEKPFECTACRKTFSKKSHLIVHWRTHTGEKPFGCTECGKAFSQKSQLIIHLRTHTGERPFECPECGKAFREKSTVIIHYRTHTGEKPYECNECGKAFTQKSNLI
VHQKTHTGEKTYECTKCGESFIQKLDLIIHHSTHTGKKPHECNECKKTFSDKSTLIIHQRTHTGEKPHKCTECGKSFNEKSTLIVHQRTHTGEKPYECDVCGKTF
TQKSNLGVHQRTHSGEKPFECNECEKAFSQKSYLMLHQRGHTGEKPYECNECEKAFSQKSYLIIHQRTHTEEKPYKCNECGKAFREKSKLIIHQRIHTGEKPYEC
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
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