AutismKB 2.0

Evidence Details for ZNF48


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Basic Information Top
Gene Symbol:ZNF48 ( DKFZp762K013,FLJ31751,MGC43952,ZNF553 )
Gene Full Name: zinc finger protein 48
Band: 16p11.2
Quick LinksEntrez ID:197407; OMIM: NA; Uniprot ID:ZNF48_HUMAN; ENSEMBL ID: ENSG00000180035; HGNC ID: 13114
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF48|197407|nucleotide
ATGGAGCGCGCGGTAGAGCCTTGGGGCCCAGATCTCCACCGCCCGGAGGAGAGGGAGCCACAGAGAGGCGCCCGCACAGGTCTAGGGAGTGAGAACGTGATTTCT
CAGCCGAATGAGTTTGAACATACCCCACAGGAAGATGACTTGGGGTTCAAGGAAGAAGATTTGGCTCCAGATCATGAAGTAGGAAATGTCTCTCTCAAACCTGAA
GGCATCCAGAACTGGGATGACTTATGGGTCCAGAGAGAGGGTCTAGGAAAGCCTCAGCCTCGGGACAGAGGCCCCCGGCTCCTGGGTGAACCACGCTGGGGCCAG
GCTAGTAGTGATCGGGCCGCTGTGTGTGGTGAGTGTGGCAAAAGCTTCAGGCAGATGTCAGATCTGGTGAAACATCAGCGGACCCACACAGGGGAGAAACCCTAC
AAGTGTGGGGTCTGTGGCAAGGGCTTTGGGGATAGCTCTGCCCGGATCAAACACCAGCGGACTCATAGTGGGGAGAAGCCCTATAGAGCCCGGCCACCAGCCCAG
GGTCCCCCAAAGATTCCTCGGTCCCGGATCCCTGCTGGTGAGCGCCCCACTATCTGTGGTGAATGTGGCAAGAGCTTCCGGCTGAGTTCTGACCTGGTGAAACAC
CAGCGGACACACACTGGTGAGAAGCCCTACAAGTGTGGCATATGTGGCAAGGGCTTTGGCGACAGTTCCGCCCGCATCAAGCACCAGCGGACACACCGGGGGGAG
CAGCCCCCCCGACCAGTGGTGCCCCGACGGCAGCCATCTCGGGCAGCCACGGCAGCTACCCAGGGACCGAAGGCCCAGGACAAGCCATATATCTGCACTGATTGC
GGCAAGAGGTTTGTGCTCAGCTGCAGCCTCCTGAGTCACCAGCGTAGTCACTTGGGGCCCAAGCCCTTTGGCTGTGATGTGTGTGGAAAGGAGTTTGCCCGGGGA
TCCGACCTGGTGAAGCACCTGCGGGTGCACACGGGTGAGAAGCCCTACCTCTGCCCAGAGTGCGGCAAAGGTTTCGCGGACAGCTCCGCCCGAGTCAAACACCTC
CGCACCCACAGTGGCGAGAGGCCCCATGCCTGCCCGGAATGCGACCGTACCTTCAGCCTCAGCTCCACCCTTCTTCGCCACCGCCTCACTCACATGGAGCCCCAG
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>ZNF48|197407|protein
MERAVEPWGPDLHRPEEREPQRGARTGLGSENVISQPNEFEHTPQEDDLGFKEEDLAPDHEVGNVSLKPEGIQNWDDLWVQREGLGKPQPRDRGPRLLGEPRWGQ
ASSDRAAVCGECGKSFRQMSDLVKHQRTHTGEKPYKCGVCGKGFGDSSARIKHQRTHSGEKPYRARPPAQGPPKIPRSRIPAGERPTICGECGKSFRLSSDLVKH
QRTHTGEKPYKCGICGKGFGDSSARIKHQRTHRGEQPPRPVVPRRQPSRAATAATQGPKAQDKPYICTDCGKRFVLSCSLLSHQRSHLGPKPFGCDVCGKEFARG
SDLVKHLRVHTGEKPYLCPECGKGFADSSARVKHLRTHSGERPHACPECDRTFSLSSTLLRHRLTHMEPQDFSFPGYPLPALIPSPPPPPLGTSPPLTPRSPSHS
GEPFGLPGLEPEPGGPQAGEPPPPLAGDKPHKCPECGKGFRRSSDLVKHHRVHTGEKPYLCPECGKGFADSSARVKHLRTHRGERARPPPPSTLLRPHNPPGPVP
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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) 2 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top