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