AutismKB 2.0

Evidence Details for ZNF546


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Basic Information Top
Gene Symbol:ZNF546 ( MGC43537,ZNF49 )
Gene Full Name: zinc finger protein 546
Band: 19q13.2
Quick LinksEntrez ID:339327; OMIM: NA; Uniprot ID:ZN546_HUMAN; ENSEMBL ID: ENSG00000187187; HGNC ID: 28671
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF546|339327|nucleotide
ATGCAGGTGGACCCTCCTCTTCACGGGCCTCCAAATGACTTTCTCATTTTTCAAATCATTCCTCTGCACTCACTTTCTATAATGCCCCGGTTTCTCTGGATTCTG
TGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTATCTTTGGCATTTAGGGATGTGTCCATAGACCTCTCC
CAAGAGGAGTGGGAGTGCCTGGACGCTGTGCAGAGGGACTTGTACAAGGATGTGATGTTGGAGAACTACAGCAACCTGGTCTCACTGGGATATACCATTCCTAAG
CCAGATGTGATTACTTTATTGGAGCAAGAGAAAGAGCCCTGGATAGTAATGAGGGAAGGGACAAGGAATTGGTTCACAGATTTGGAATACAAGTATATTACCAAG
AATTTGCTTTCAGAAAAGAATGTTTGCAAAATCTATTTATCTCAATTGCAGACAGGGGAAAAAAGTAAAAACACCATCCATGAGGACACCATTTTCAGAAATGGT
TTGCAGTGTAAACATGAATTTGAGAGACAAGAGAGACATCAGATGGGATGCGTTAGTCAAATGCTAATCCAAAAACAAATATCTCATCCTCTACATCCAAAAATT
CATGCTAGAGAGAAATCATATGAATGTAAGGAATGTAGAAAGGCCTTTAGACAACAGTCATACCTTATTCAACATCTGAGAATTCACACTGGTGAGAGACCCTAT
AAATGTATGGAATGTGGAAAGGCCTTTTGTCGAGTGGGAGACCTTAGAGTACATCACACAATCCATGCTGGGGAGAGACCCTATGAATGTAAAGAATGTGGGAAG
GCCTTTAGACTTCATTATCACCTTACTGAACATCAGAGAATACATTCTGGTGTGAAACCCTACGAGTGTAAGGAATGTGGGAAAGCCTTTAGTCGTGTTAGAGAC
CTTAGAGTACATCAGACAATTCATGCTGGAGAGAGACCTTATGAATGTAAAGAATGTGGGAAGGCCTTTAGACTTCATTATCAACTAACTGAACATCAAAGAATT
CATACTGGTGAGAGGCCTTATGAATGTAAGGTTTGTGGCAAGACCTTTAGGGTACAACGACATATTAGTCAACATCAGAAAATTCATACTGGTGTCAAACCCTAT
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>ZNF546|339327|protein
MQVDPPLHGPPNDFLIFQIIPLHSLSIMPRFLWILCFSMEETQGELTSSCGSKTMANVSLAFRDVSIDLSQEEWECLDAVQRDLYKDVMLENYSNLVSLGYTIPK
PDVITLLEQEKEPWIVMREGTRNWFTDLEYKYITKNLLSEKNVCKIYLSQLQTGEKSKNTIHEDTIFRNGLQCKHEFERQERHQMGCVSQMLIQKQISHPLHPKI
HAREKSYECKECRKAFRQQSYLIQHLRIHTGERPYKCMECGKAFCRVGDLRVHHTIHAGERPYECKECGKAFRLHYHLTEHQRIHSGVKPYECKECGKAFSRVRD
LRVHQTIHAGERPYECKECGKAFRLHYQLTEHQRIHTGERPYECKVCGKTFRVQRHISQHQKIHTGVKPYKCNECGKAFSHGSYLVQHQKIHTGEKPYECKECGK
SFSFHAELARHRRIHTGEKPYECRECGKAFRLQTELTRHHRTHTGEKPYECKECGKAFICGYQLTLHLRTHTGEIPYECKECGKTFSSRYHLTQHYRIHTGEKPY
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018