Evidence Details for C7orf57
Basic Information Top
| Gene Symbol: | C7orf57 ( - ) |
|---|---|
| Gene Full Name: | chromosome 7 open reading frame 57 |
| Band: | 7p12.3 |
| Quick Links | Entrez ID:136288; OMIM: NA; Uniprot ID:CG057_HUMAN; ENSEMBL ID: ENSG00000164746; HGNC ID: 22247 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C7orf57|136288|nucleotide
ATGAGGAACACAAGCAAGGAACTTCAGGGCGCCACGCACCGCTACGCTCCCTGCGATTGGTATTACCACGTCCCAGTGAAGCGCTCTGAGAAGGCCGTGGATGCC
CCACCAGCGTCCCAGATCCCAGGTCTCAGCAATTTGGGAGACTCACACAGCGAGAACCTGCCTGGGACTCGGAGATACTGGATAAAAGAAACAGATTCGGAATAT
GTGAAGCTCGCGAAACAAGGTGGCAGGCCCGATTTGTTGAAGCACTTTGCCCCTGGAACCAGGAAAGGCTCTCCAGTGGCCTACTCCCTGCCAGACTGGTATATC
CACCACAGCAAGCCACCGACAGCCAGCCAGCAAGAAGTGCGGGCTGTCTCCATGCCGGATTACATGGTTCATGAAGAATTTAACCCCGATCAAGCCAATGGTAGC
TATGCATCCAGAAGAGGGCCCTTCGACTTCGACATGAAAACAGTTTGGCAAAGAGAGGCTGAGGAACTTGAAAAGGAGAAAAAAAAGCTGAGGCTACCGGCCATT
GACTCAAAGTATCTGAGCAAAGCAGGCACCCCACTTGGCCCTAAGAATCCTGCAGGAAGTAGACTCTCCTTCCCCCCCGTGCCTGGTCAAAAAAACAGTTCACCT
ACCAATTTTTCCAAACTCATTAGCAATGGTTATAAGGATGAGTGGTTGCAGCAGCAGCAGCGAGCTGACTCAGACAAGAGGACCCCGAAGACCTCCAGGGCATCA
GTGTTATCTCAGTCCCCACGAGACCTGGAAGGTCCCCAGGATGCAGCCAGGCTCCAGGATGCAGAGGCTTCTGAAGGTCCTGAGGACACCCCAGAGTCTTCTCAA
AGCCCAGAAGAATCTGTATCTGCATCAACACCAGCAGAGCTCAAATAA
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ATGAGGAACACAAGCAAGGAACTTCAGGGCGCCACGCACCGCTACGCTCCCTGCGATTGGTATTACCACGTCCCAGTGAAGCGCTCTGAGAAGGCCGTGGATGCC
CCACCAGCGTCCCAGATCCCAGGTCTCAGCAATTTGGGAGACTCACACAGCGAGAACCTGCCTGGGACTCGGAGATACTGGATAAAAGAAACAGATTCGGAATAT
GTGAAGCTCGCGAAACAAGGTGGCAGGCCCGATTTGTTGAAGCACTTTGCCCCTGGAACCAGGAAAGGCTCTCCAGTGGCCTACTCCCTGCCAGACTGGTATATC
CACCACAGCAAGCCACCGACAGCCAGCCAGCAAGAAGTGCGGGCTGTCTCCATGCCGGATTACATGGTTCATGAAGAATTTAACCCCGATCAAGCCAATGGTAGC
TATGCATCCAGAAGAGGGCCCTTCGACTTCGACATGAAAACAGTTTGGCAAAGAGAGGCTGAGGAACTTGAAAAGGAGAAAAAAAAGCTGAGGCTACCGGCCATT
GACTCAAAGTATCTGAGCAAAGCAGGCACCCCACTTGGCCCTAAGAATCCTGCAGGAAGTAGACTCTCCTTCCCCCCCGTGCCTGGTCAAAAAAACAGTTCACCT
ACCAATTTTTCCAAACTCATTAGCAATGGTTATAAGGATGAGTGGTTGCAGCAGCAGCAGCGAGCTGACTCAGACAAGAGGACCCCGAAGACCTCCAGGGCATCA
GTGTTATCTCAGTCCCCACGAGACCTGGAAGGTCCCCAGGATGCAGCCAGGCTCCAGGATGCAGAGGCTTCTGAAGGTCCTGAGGACACCCCAGAGTCTTCTCAA
AGCCCAGAAGAATCTGTATCTGCATCAACACCAGCAGAGCTCAAATAA
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>C7orf57|136288|protein
MRNTSKELQGATHRYAPCDWYYHVPVKRSEKAVDAPPASQIPGLSNLGDSHSENLPGTRRYWIKETDSEYVKLAKQGGRPDLLKHFAPGTRKGSPVAYSLPDWYI
HHSKPPTASQQEVRAVSMPDYMVHEEFNPDQANGSYASRRGPFDFDMKTVWQREAEELEKEKKKLRLPAIDSKYLSKAGTPLGPKNPAGSRLSFPPVPGQKNSSP
TNFSKLISNGYKDEWLQQQQRADSDKRTPKTSRASVLSQSPRDLEGPQDAARLQDAEASEGPEDTPESSQSPEESVSASTPAELK
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MRNTSKELQGATHRYAPCDWYYHVPVKRSEKAVDAPPASQIPGLSNLGDSHSENLPGTRRYWIKETDSEYVKLAKQGGRPDLLKHFAPGTRKGSPVAYSLPDWYI
HHSKPPTASQQEVRAVSMPDYMVHEEFNPDQANGSYASRRGPFDFDMKTVWQREAEELEKEKKKLRLPAIDSKYLSKAGTPLGPKNPAGSRLSFPPVPGQKNSSP
TNFSKLISNGYKDEWLQQQQRADSDKRTPKTSRASVLSQSPRDLEGPQDAARLQDAEASEGPEDTPESSQSPEESVSASTPAELK
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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) | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 4 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wolpert, 2001 | - | FISH |  |  | autism | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top