Evidence Details for ZNF674


Gene Symbol: | ZNF674 ( DKFZp686H0940,MRX92,ZNF673B ) |
---|---|
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 |


>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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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) |


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. |




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 |














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