AutismKB 2.0

Evidence Details for ZNF596


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Basic Information Top
Gene Symbol:ZNF596 ( FLJ36123 )
Gene Full Name: zinc finger protein 596
Band: 8p23.3
Quick LinksEntrez ID:169270; OMIM: NA; Uniprot ID:ZN596_HUMAN; ENSEMBL ID: ENSG00000172748; HGNC ID: 27268
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF596|169270|nucleotide
ATGCCATCACCGGATTCCATGACCTTCGAGGATATCATTGTAGACTTCACTCAAGAAGAGTGGGCCCTGCTGGACACATCCCAGAGAAAGCTGTTTCAAGATGTG
ATGTTGGAGAACATCAGTCATCTGGTCTCTATTGGCAAACAGCTCTGCAAATCAGTTGTGCTTTCCCAATTGGAGCAAGTAGAGAAACTTTCAACACAAAGAATA
AGCTTACTGCAAGGTAGAGAAGTTGGCATTAAACATCAAGAGATACCATTCATTCAACATATCTATCAGAAGGGCACGTCCACCATCAGCACAATGAGATCTCAT
ACTCAAGAGGATCCTTTTCTATGCAATGACTTAGGAGAAGATTTCACTCAACATATAGCATTGACTCAAAATGTGATTACCTACATGAGAACGAAACACTTTGTA
AGCAAAAAGTTTGGGAAAATCTTCAGTGACTGGTTATCCTTTAATCAACACAAGGAAATTCACACCAAATGTAAATCATATGGAAGTCATCTATTTGATTATGCC
TTTATCCAAAACTCTGCCCTTAGACCACACAGTGTGACTCACACTAGAGAGATAACATTGGAATGTCGTGTGTGTGGGAAAACCTTTAGCAAAAATTCTAATCTT
AGGCGACATGAGATGATTCACACTGGAGAGAAACCACACGGATGTCATCTATGTGGGAAAGCCTTTACTCATTGCTCTGATCTTCGAAAACATGAGAGAACTCAC
ACTGGAGAGAAGCCATATGGATGTCATCTATGTGGGAAAGCCTTCAGTAAAAGTTCTAACCTTAGACGACATGAGATGATTCACACTAGAGAAAAAGCACAGATA
TGCCATCTATGTGGGAAAGCCTTCACTCATTGCTCTGACCTTAGAAAACATGAGAGAACTCACTTAGGAGATAAACCATATGGATGTCTCCTATGTGGGAAGGCT
TTCAGTAAATGTTCTTACCTTAGACAACATGAAAGAACTCACAATGGAGAGAAACCATATGAATGTCATCTATGTGGAAAAGCCTTCTCTCATTGTTCTCACCTT
AGACAACATGAGCGAAGTCACAATGGAGAGAAACCACATGGATGTCATCTATGTGGGAAAGCATTCACTGAATCTTCTGTGCTTAAACGACATGAGAGAATTCAC
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>ZNF596|169270|protein
MPSPDSMTFEDIIVDFTQEEWALLDTSQRKLFQDVMLENISHLVSIGKQLCKSVVLSQLEQVEKLSTQRISLLQGREVGIKHQEIPFIQHIYQKGTSTISTMRSH
TQEDPFLCNDLGEDFTQHIALTQNVITYMRTKHFVSKKFGKIFSDWLSFNQHKEIHTKCKSYGSHLFDYAFIQNSALRPHSVTHTREITLECRVCGKTFSKNSNL
RRHEMIHTGEKPHGCHLCGKAFTHCSDLRKHERTHTGEKPYGCHLCGKAFSKSSNLRRHEMIHTREKAQICHLCGKAFTHCSDLRKHERTHLGDKPYGCLLCGKA
FSKCSYLRQHERTHNGEKPYECHLCGKAFSHCSHLRQHERSHNGEKPHGCHLCGKAFTESSVLKRHERIHTGEKPYECHVCGKAFTESSDLRRHERTHTGEKPYE
CHLCGKAFNHSSVLRRHERTHTGEKPYECNICGKAFNRSYNFRLHRRVHTGEKPYVCPLCGKAFSKFFNLRQHERTHTKKAMNM
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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 (3) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Linkage Studies Top