AutismKB 2.0

Evidence Details for ZNF250


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Basic Information Top
Gene Symbol:ZNF250 ( FLJ57354,MGC111123,MGC9718,ZFP647,ZNF647 )
Gene Full Name: zinc finger protein 250
Band: 8q24.3
Quick LinksEntrez ID:58500; OMIM: NA; Uniprot ID:ZN250_HUMAN; ENSEMBL ID: ENSG00000196150; HGNC ID: 13044
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF250|58500|nucleotide
ATGGCAGCAGCCAGACTCCTGCCAGTGCCGGCAGGACCCCAGGCCAAGCTGACCTTCGAGGATGTGGCTGTGCTCCTCTCCCAGGATGAATGGGACCGCCTGTGC
CCTGCTCAGAGGGGTCTCTACAGAAATGTGATGATGGAAACCTATGGGAATGTAGTCTCATTGGGACTTCCAGGATCCAAGCCTGACATAATCTCCCAGCTGGAG
CGAGGGGAAGATCCCTGGGTCCTGGACAGGAAGGGGGCTAAGAAGAGCCAGGGCCTGTGGAGTGACTACTCAGACAACCTCAAATATGACCACACTACAGCCTGT
ACACAACAAGACAGTTTATCTTGTCCATGGGAATGTGAAACCAAGGGAGAGAGTCAAAATACAGACTTGAGTCCGAAGCCATTAATTTCAGAGCAAACAGTGATT
CTGGGGAAAACACCCTTGGGGAGGATTGATCAAGAAAATAATGAAACAAAGCAAAGCTTCTGTCTGAGTCCAAACTCTGTTGACCACCGTGAAGTTCAGGTCTTA
AGCCAAAGCATGCCACTCACTCCGCACCAGGCAGTGCCTAGTGGAGAGAGGCCCTACATGTGTGTTGAGTGTGGGAAGTGCTTTGGCCGGAGTTCCCACCTCCTT
CAGCATCAGCGTATCCACACTGGAGAGAAGCCCTATGTGTGCAGTGTATGTGGGAAGGCCTTCAGCCAGAGCTCAGTCCTTAGTAAACACAGGAGAATTCACACA
GGTGAGAAGCCCTATGAGTGTAATGAGTGTGGAAAAGCCTTTAGAGTGAGCTCAGATCTTGCTCAGCATCACAAGATACATACAGGAGAGAAGCCTCACGAATGT
CTTGAGTGTCGGAAAGCCTTCACTCAACTCTCACATCTCATTCAGCACCAGCGGATCCACACGGGAGAAAGGCCATATGTGTGTCCGTTGTGTGGGAAAGCCTTC
AACCATAGCACTGTTCTGCGGAGCCACCAGAGGGTACACACTGGGGAGAAGCCTCACAGGTGCAATGAGTGTGGGAAAACCTTCAGTGTGAAGAGGACACTGCTG
CAGCACCAGAGGATCCACACCGGGGAGAAGCCCTACACGTGCAGCGAGTGTGGGAAGGCCTTCAGCGACCGCTCAGTCCTCATTCAGCACCACAACGTGCACACC
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>ZNF250|58500|protein
MAAARLLPVPAGPQAKLTFEDVAVLLSQDEWDRLCPAQRGLYRNVMMETYGNVVSLGLPGSKPDIISQLERGEDPWVLDRKGAKKSQGLWSDYSDNLKYDHTTAC
TQQDSLSCPWECETKGESQNTDLSPKPLISEQTVILGKTPLGRIDQENNETKQSFCLSPNSVDHREVQVLSQSMPLTPHQAVPSGERPYMCVECGKCFGRSSHLL
QHQRIHTGEKPYVCSVCGKAFSQSSVLSKHRRIHTGEKPYECNECGKAFRVSSDLAQHHKIHTGEKPHECLECRKAFTQLSHLIQHQRIHTGERPYVCPLCGKAF
NHSTVLRSHQRVHTGEKPHRCNECGKTFSVKRTLLQHQRIHTGEKPYTCSECGKAFSDRSVLIQHHNVHTGEKPYECSECGKTFSHRSTLMNHERIHTEEKPYAC
YECGKAFVQHSHLIQHQRVHTGEKPYVCGECGHAFSARRSLIQHERIHTGEKPFQCTECGKAFSLKATLIVHLRTHTGEKPYECNSCGKAFSQYSVLIQHQRIHT
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top