AutismKB 2.0

Evidence Details for ZNF594


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Basic Information Top
Gene Symbol:ZNF594 ( DKFZp667J055 )
Gene Full Name: zinc finger protein 594
Band: 17p13.2
Quick LinksEntrez ID:84622; OMIM: NA; Uniprot ID:ZN594_HUMAN; ENSEMBL ID: ENSG00000180626; HGNC ID: 29392
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF594|84622|nucleotide
ATGAAGGAATGGAAATCAAAGATGGAAATTTCTGAAGAAAAGAAGTCAGCAAGGGCTGCATCCGAAAAACTCCAAAGACAAATCACCCAGGAATGTGAGTTAGTT
GAAACCAGTAATTCTGAGGACAGATTATTGAAGCACTGGGTAAGCCCTTTAAAGGATGCAATGAGACATCTCCCTTCCCAAGAGAGCGGTATCAGGGAAATGCAT
ATTATCCCCCAGAAAGCCATTGTGGGAGAGATTGGCCATGGATGTAATGAAGGAGAAAAAATACTTTCTGCAGGAGAAAGCTCCCATAGATATGAGGTTAGTGGC
CAAAACTTCAAACAGAAGTCAGGATTAACTGAACATCAGAAAATTCATAATATAAATAAGACCTATGAATGTAAGGAATGTGAAAAAACCTTCAACAGGAGTTCA
AACCTGATCATACATCAGAGAATTCATACAGGAAATAAGCCATATGTGTGTAATGAATGTGGGAAAGACTCTAATCAAAGTTCAAATCTTATTATACATCAGAGA
ATTCATACAGGAAAGAAACCTTATATATGTCATGAATGTGGAAAAGACTTCAATCAGAGCTCCAATCTGGTGAGACATAAGCAAATTCACAGTGGTGGGAATCCC
TATGAGTGCAAAGAGTGTGGGAAGGCTTTTAAGGGAAGCTCAAACCTTGTCCTGCACCAGAGAATCCACAGTAGGGGGAAGCCATATTTATGCAATAAATGTGGG
AAGGCTTTCAGTCAAAGCACAGATCTTATTATACATCACAGAATTCACACTGGAGAGAAACCCTATGAATGTTATGACTGTGGACAGATGTTCAGTCAAAGTTCA
CACCTTGTCCCACATCAGAGAATTCACACTGGAGAGAAACCCCTCAAATGTAATGAATGTGAAAAAGCCTTCAGGCAGCATTCTCACCTTACTGAACACCAGAGA
CTCCACAGTGGAGAGAAACCCTATGAATGTCACAGATGTGGGAAGACCTTCAGTGGGCGCACAGCTTTTCTTAAACATCAGAGATTGCATGCTGGAGAGAAAATT
GAAGAATGTGAGAAAACCTTCAGCAAGGATGAGGAGCTTAGGGAAGAGCAGAGAATTCACCAGGAAGAGAAAGCTTATTGGTGTAATCAGTGTGGTAGGAATTTC
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>ZNF594|84622|protein
MKEWKSKMEISEEKKSARAASEKLQRQITQECELVETSNSEDRLLKHWVSPLKDAMRHLPSQESGIREMHIIPQKAIVGEIGHGCNEGEKILSAGESSHRYEVSG
QNFKQKSGLTEHQKIHNINKTYECKECEKTFNRSSNLIIHQRIHTGNKPYVCNECGKDSNQSSNLIIHQRIHTGKKPYICHECGKDFNQSSNLVRHKQIHSGGNP
YECKECGKAFKGSSNLVLHQRIHSRGKPYLCNKCGKAFSQSTDLIIHHRIHTGEKPYECYDCGQMFSQSSHLVPHQRIHTGEKPLKCNECEKAFRQHSHLTEHQR
LHSGEKPYECHRCGKTFSGRTAFLKHQRLHAGEKIEECEKTFSKDEELREEQRIHQEEKAYWCNQCGRNFQGTSDLIRHQVTHTGEKPYECKECGKTFNQSSDLL
RHHRIHSGEKPCVCSKCGKSFRGSSDLIRHHRVHTGEKPYECSECGKAFSQRSHLVTHQKIHTGEKPYQCTECGKAFRRRSLLIQHRRIHSGEKPYECKECGKLF
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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) 1 (1) 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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top