Evidence Details for ZNF557
Basic Information Top
Gene Symbol: | ZNF557 ( FLJ96454,MGC4054 ) |
---|---|
Gene Full Name: | zinc finger protein 557 |
Band: | 19p13.2 |
Quick Links | Entrez ID:79230; OMIM: NA; Uniprot ID:ZN557_HUMAN; ENSEMBL ID: ENSG00000130544; HGNC ID: 28632 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZNF557|79230|nucleotide
ATGGCGGCTGTCGTCCTGCCCCCAACTGCCGCTCTGTCTTCCCTGTTCCCAGCCTCTCAGCGAGAAGGACACACAGAGGGCGGAGAGCTGGTTAATGAGCTCCTG
AAAAGCTGGCTAAAGGGCTTGGTGACCTTTGAGGATGTGGCCGTGGAGTTCACCCAGGAGGAGTGGGCATTGCTGGACCCTGCCCAAAGGACACTGTACAGGGAC
GTGATGCTGGAGAACTGCAGGAACCTGGCCTCACTGGGGAACCAAGTTGATAAACCTAGGCTGATCTCCCAGCTGGAGCAAGAAGATAAAGTGATGACAGAAGAG
AGAGGAATTCTCTCAGGTACCTGTCCAGATGTGGAGAATCCATTTAAAGCCAAAGGGTTAACTCCTAAGCTGCATGTTTTTCGAAAAGAACAATCTAGAAATATG
AAAATGGAGAGGAATCATCTTGGAGCAACACTCAACGAATGTAATCAGTGTTTTAAAGTCTTCAGCACAAAATCTTCCCTTACACGGCACAGGAAGATTCATACT
GGAGAAAGACCCTATGGCTGCAGTGAATGTGGGAAATCCTACAGCAGTAGATCTTACCTTGCTGTTCATAAGAGAATCCACAATGGGGAGAAACCCTATGAATGC
AATGACTGTGGGAAAACCTTCAGCAGCAGATCTTACCTTACTGTTCATAAGAGAATCCACAATGGGGAGAAACCCTACGAATGCAGTGACTGTGGGAAAACCTTC
AGCAATTCCTCATACCTCAGACCGCACTTGAGAATTCACACTGGAGAAAAACCGTACAAATGTAACCAGTGTTTTCGTGAGTTCCGCACTCAGTCAATCTTCACA
AGGCACAAGAGAGTTCATACGGGGGAGGGTCATTATGTATGTAATCAGTGTGGAAAGGCTTTCGGCACGAGGTCATCTCTTTCTTCGCACTATAGCATTCATACA
GGGGAGTACCCTTACGAATGCCACGATTGTGGGAGAACCTTCAGGAGGAGGTCGAATCTGACACAGCACATAAGAACTCATACTGGAGAAAAACCCTACACATGT
AATGAGTGTGGGAAATCCTTTACCAATAGCTTTTCTCTTACAATTCACAGGAGAATACATAATGGAGAGAAATCCTATGAGTGCAGTGATTGTGGAAAATCCTTT
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ATGGCGGCTGTCGTCCTGCCCCCAACTGCCGCTCTGTCTTCCCTGTTCCCAGCCTCTCAGCGAGAAGGACACACAGAGGGCGGAGAGCTGGTTAATGAGCTCCTG
AAAAGCTGGCTAAAGGGCTTGGTGACCTTTGAGGATGTGGCCGTGGAGTTCACCCAGGAGGAGTGGGCATTGCTGGACCCTGCCCAAAGGACACTGTACAGGGAC
GTGATGCTGGAGAACTGCAGGAACCTGGCCTCACTGGGGAACCAAGTTGATAAACCTAGGCTGATCTCCCAGCTGGAGCAAGAAGATAAAGTGATGACAGAAGAG
AGAGGAATTCTCTCAGGTACCTGTCCAGATGTGGAGAATCCATTTAAAGCCAAAGGGTTAACTCCTAAGCTGCATGTTTTTCGAAAAGAACAATCTAGAAATATG
AAAATGGAGAGGAATCATCTTGGAGCAACACTCAACGAATGTAATCAGTGTTTTAAAGTCTTCAGCACAAAATCTTCCCTTACACGGCACAGGAAGATTCATACT
GGAGAAAGACCCTATGGCTGCAGTGAATGTGGGAAATCCTACAGCAGTAGATCTTACCTTGCTGTTCATAAGAGAATCCACAATGGGGAGAAACCCTATGAATGC
AATGACTGTGGGAAAACCTTCAGCAGCAGATCTTACCTTACTGTTCATAAGAGAATCCACAATGGGGAGAAACCCTACGAATGCAGTGACTGTGGGAAAACCTTC
AGCAATTCCTCATACCTCAGACCGCACTTGAGAATTCACACTGGAGAAAAACCGTACAAATGTAACCAGTGTTTTCGTGAGTTCCGCACTCAGTCAATCTTCACA
AGGCACAAGAGAGTTCATACGGGGGAGGGTCATTATGTATGTAATCAGTGTGGAAAGGCTTTCGGCACGAGGTCATCTCTTTCTTCGCACTATAGCATTCATACA
GGGGAGTACCCTTACGAATGCCACGATTGTGGGAGAACCTTCAGGAGGAGGTCGAATCTGACACAGCACATAAGAACTCATACTGGAGAAAAACCCTACACATGT
AATGAGTGTGGGAAATCCTTTACCAATAGCTTTTCTCTTACAATTCACAGGAGAATACATAATGGAGAGAAATCCTATGAGTGCAGTGATTGTGGAAAATCCTTT
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>ZNF557|79230|protein
MAAVVLPPTAALSSLFPASQREGHTEGGELVNELLKSWLKGLVTFEDVAVEFTQEEWALLDPAQRTLYRDVMLENCRNLASLGNQVDKPRLISQLEQEDKVMTEE
RGILSGTCPDVENPFKAKGLTPKLHVFRKEQSRNMKMERNHLGATLNECNQCFKVFSTKSSLTRHRKIHTGERPYGCSECGKSYSSRSYLAVHKRIHNGEKPYEC
NDCGKTFSSRSYLTVHKRIHNGEKPYECSDCGKTFSNSSYLRPHLRIHTGEKPYKCNQCFREFRTQSIFTRHKRVHTGEGHYVCNQCGKAFGTRSSLSSHYSIHT
GEYPYECHDCGRTFRRRSNLTQHIRTHTGEKPYTCNECGKSFTNSFSLTIHRRIHNGEKSYECSDCGKSFNVLSSVKKHMRTHTGKKPYECNYCGKSFTSNSYLS
VHTRMHNRQM
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MAAVVLPPTAALSSLFPASQREGHTEGGELVNELLKSWLKGLVTFEDVAVEFTQEEWALLDPAQRTLYRDVMLENCRNLASLGNQVDKPRLISQLEQEDKVMTEE
RGILSGTCPDVENPFKAKGLTPKLHVFRKEQSRNMKMERNHLGATLNECNQCFKVFSTKSSLTRHRKIHTGERPYGCSECGKSYSSRSYLAVHKRIHNGEKPYEC
NDCGKTFSSRSYLTVHKRIHNGEKPYECSDCGKTFSNSSYLRPHLRIHTGEKPYKCNQCFREFRTQSIFTRHKRVHTGEGHYVCNQCGKAFGTRSSLSSHYSIHT
GEYPYECHDCGRTFRRRSNLTQHIRTHTGEKPYTCNECGKSFTNSFSLTIHRRIHNGEKSYECSDCGKSFNVLSSVKKHMRTHTGKKPYECNYCGKSFTSNSYLS
VHTRMHNRQM
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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) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (3) |
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 | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
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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