Evidence Details for ZNF674
Basic Information Top
Gene Symbol: | ZNF674 ( DKFZp686H0940,MRX92,ZNF673B ) |
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Gene Full Name: | zinc finger protein 674 |
Band: | Xp11.3 |
Quick Links | Entrez 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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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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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 |
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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.
Inheritance | XL |
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OMIM | Mental retardation, X-linked 92 (300851) |
Description | Non-syndromic X-linked ID |
Reference(s) | 16385466; |
Level | Level 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, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 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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