AutismKB 2.0

Evidence Details for ZNF674


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Basic Information Top
Gene Symbol:ZNF674 ( DKFZp686H0940,MRX92,ZNF673B )
Gene Full Name: zinc finger protein 674
Band: Xp11.3
Quick LinksEntrez ID:641339; OMIM: 300573; Uniprot ID:ZN674_HUMAN; ENSEMBL ID: ENSG00000251192; HGNC ID: 17625
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF674|641339|nucleotide
ATGGCCATGTCCCAGGAATCATTGACCTTCAAGGACGTGTTTGTGGACTTCACCCTGGAGGAGTGGCAGCAACTGGACTCTGCCCAGAAGAACCTCTACAGGGAT
GTCATGCTTGAGAACTACAGCCACCTGGTGTCCGTGGGGCATCTAGTTGGGAAGCCAGATGTGATCTTCAGGTTGGGACCAGGTGACGAGTCCTGGATGGCAGAT
GGAGGGACCCCGGTACGGACCTGTGCAGGTGAGGACAGGCCAGAAGTCTGGGAAGTTGACGAGCAGATAGATCACTACAAGGAAAGCCAAGACAAATTTCTGTGG
CAAGCTGCATTCATAGGCAAGGAAACACTGAAGGATGAAAGTGGTCAAGAATGTAAAATATGTAGAAAAATCATTTATCTCAACACAGACTTTGTTTCTGTAAAA
CAAAGACTCCCTAAATATTATTCATGGGAAAGGTGTTCAAAACATCATTTAAACTTTCTTGGTCAAAATAGAAGCTATGTAAGAAAGAAAGATGATGGATGTAAG
GCATATTGGAAAGTATGCCTCCATTATAATCTTCATAAAGCTCAACCTGCAGAGAGATTTTTTGACCCTAATCAACGAGGGAAAGCCCTCCACCAAAAGCAAGCC
CTTAGAAAAAGTCAGAGAAGTCAAACTGGGGAGAAACTCTACAAATGTACTGAATGTGGAAAAGTGTTTATCCAGAAAGCAAACTTAGTTGTACATCAAAGAACT
CACACCGGAGAGAAACCTTATGAATGCTGCGAATGTGCAAAAGCCTTCAGCCAGAAGTCAACCCTCATAGCACACCAGAGAACTCACACAGGGGAGAAGCCCTAT
GAATGCAGTGAATGTGGAAAAACCTTTATCCAGAAGTCAACTCTGATTAAACATCAACGAACTCATACAGGAGAGAAACCATTTGTATGTGACAAATGTCCAAAA
GCCTTTAAGAGTTCATATCATCTTATTAGACATGAAAAAACACACATTAGACAAGCATTTTATAAAGGTATTAAATGTACTACGTCCAGCCTTATATATCAAAGA
ATTCACACAAGTGAGAAACCTCAGTGCAGTGAACATGGGAAAGCCTCTGATGAGAAGCCCAGTCCCACTAAACATTGGAGAACTCATACAAAAGAGAACATTTAT
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>ZNF674|641339|protein
MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHLVSVGHLVGKPDVIFRLGPGDESWMADGGTPVRTCAGEDRPEVWEVDEQIDHYKESQDKFLW
QAAFIGKETLKDESGQECKICRKIIYLNTDFVSVKQRLPKYYSWERCSKHHLNFLGQNRSYVRKKDDGCKAYWKVCLHYNLHKAQPAERFFDPNQRGKALHQKQA
LRKSQRSQTGEKLYKCTECGKVFIQKANLVVHQRTHTGEKPYECCECAKAFSQKSTLIAHQRTHTGEKPYECSECGKTFIQKSTLIKHQRTHTGEKPFVCDKCPK
AFKSSYHLIRHEKTHIRQAFYKGIKCTTSSLIYQRIHTSEKPQCSEHGKASDEKPSPTKHWRTHTKENIYECSKCGKSFRGKSHLSVHQRIHTGEKPYECSICGK
TFSGKSHLSVHHRTHTGEKPYECRRCGKAFGEKSTLIVHQRMHTGEKPYKCNECGKAFSEKSPLIKHQRIHTGERPYECTDCKKAFSRKSTLIKHQRIHTGEKPY
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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) Yes 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked 92 (300851)
DescriptionNon-syndromic X-linked ID
Reference(s)16385466;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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