AutismKB 2.0

Evidence Details for ZNF253


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Basic Information Top
Gene Symbol:ZNF253 ( BMZF-1,BMZF1,FLJ90391,ZNF411 )
Gene Full Name: zinc finger protein 253
Band: 19p13.11
Quick LinksEntrez ID:56242; OMIM: 606954; Uniprot ID:ZN253_HUMAN; ENSEMBL ID: ENSG00000213988; HGNC ID: 13497
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF253|56242|nucleotide
ATGGGACCATTGCAATTTAGAGATGTGGCCATAGAATTCTCTCTGGAGGAGTGGCATTGCCTGGACACTGCACAGCGGAATTTATATAGGGATGTGATGTTAGAG
AACTACAGAAACTTGGTCTTCCTTGGTATTGTTGTCTCTAAGCCAGACCTGGTTACCTGTCTGGAGCAAGGAAAAAAACCTTTAACTATGGAAAGACATGAGATG
ATTGCCAAACCCCCAGTTATGAGTTCTCATTTTGCCCAAGACCTTTGGCCAGAGAACATACAAAATTCTTTCCAAATAGGGATGCTGAGAAGATATGAAGAATGC
AGACATGACAATTTACAGTTAAAAAAAGGCTGTAAAAGCGTGGGTGAGCATAAGGTGCACAAAGGAGGTTATAATGGACTTAACCAATGTTTGACAACTACCCAG
AAAGAAATATTTCAATGTGATAAATATGGAAAAGTCTTTCATAAGTTTTCAAATTCAAACACATATAAGACAAGACATACTGGAATAAATCTTTTCAAATGTATA
ATATGTGGCAAAGCTTTTAAACGGTCCTCAACCCTTACTACACATAAGAAAATTCATACTGGAGAGAAACCTTACAGATGTGAAGAATGTGGCAAAGCTTTTAAC
CAATCTGCAAACCTTACTACACATAAGAGAATTCATACCGGAGAGAAACCCTACAGATGTGAAGAATGTGGCAAAGCCTTTAAGCAGTCCTCAAACCTTACTACA
CATAAGAAAATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTCAACCGATCCACAGACCTTACTACACATAAGATAGTTCATACTGGA
GAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTTAAGCACCCCTCACACGTTACCACACATAAGAAAATTCATACTAGAGGGAAACCCTACAACTGTGAA
GAATGTGGCAAATCCTTTAAGCACTGCTCTAACCTTACTATACATAAGAGAATTCATACAGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTTCAC
CTATCCTCACACCTTACTACACATAAGATACTTCATACTGGAGAGAAACCCTACAGATGTAGAGAATGTGGCAAAGCTTTTAACCATTCCACAACCCTTTTTTCA
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>ZNF253|56242|protein
MGPLQFRDVAIEFSLEEWHCLDTAQRNLYRDVMLENYRNLVFLGIVVSKPDLVTCLEQGKKPLTMERHEMIAKPPVMSSHFAQDLWPENIQNSFQIGMLRRYEEC
RHDNLQLKKGCKSVGEHKVHKGGYNGLNQCLTTTQKEIFQCDKYGKVFHKFSNSNTYKTRHTGINLFKCIICGKAFKRSSTLTTHKKIHTGEKPYRCEECGKAFN
QSANLTTHKRIHTGEKPYRCEECGKAFKQSSNLTTHKKIHTGEKPYKCEECGKAFNRSTDLTTHKIVHTGEKPYKCEECGKAFKHPSHVTTHKKIHTRGKPYNCE
ECGKSFKHCSNLTIHKRIHTGEKPYKCEECGKAFHLSSHLTTHKILHTGEKPYRCRECGKAFNHSTTLFSHEKIHTGEKPYKCDECGKTFTWPSILSKHKRTHTG
EKPYKCEECGKSFTASSTLTTHKRIHTGEKPYKCEECGKAFNWSSDLNKHKKIHIERKPYIVKNVTDLLNVPPLLISIR
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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 (1) 0 (0) 0 (0) 2 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top