Evidence Details for C8orf74
Basic Information Top
| Gene Symbol: | C8orf74 ( - ) |
|---|---|
| Gene Full Name: | chromosome 8 open reading frame 74 |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:203076; OMIM: NA; Uniprot ID:CH074_HUMAN; ENSEMBL ID: ENSG00000171060; HGNC ID: 32296 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C8orf74|203076|nucleotide
ATGGCACTCTTAACACCCCAGGGAGTGAAAGAAGTCTTCCAATTTCAGAGACCACAAGGTCGGGAGCGCCTGCGGAGGCTTCTGAACTGGGAGGAGTTTGACGAA
CAGAGAGACTCCCGGAGGAGCATCCTGCTGGACACCCTCTACGAGAGCATCATCTTTGCAGTGGGCAAAGGCTTCCCATGGGTGGAGGTGGCCCAGGTGGTCAAG
TTCACAGAAGAGCTGCTAAGGGAAACCAAAGGCTGCTCCATTACTGAGGCTGTGACGATCCTGGGGAACAAGCTTAGAGATTACCGGGGCCATTTCAACACCACC
CACCTGCTGGCCCTCTGTGACTACTTCCACCACACCTTCATCCGCCACTACAAACTCTACCAGTATGTCCTGGGCCAGGACCAGCAGGTCGACCTGACCGTTGCC
CACCTGGAGGTGTGCATGCCACCCCATCCCCTCCCGCTGGCCGAGGGCATGGACAGGGACTTGTGGATCCACGAGCAGCAGGTGGCCACACTGACGGAGGCCGAG
GCACAGAAGCGCGCCGACGTGCTGCTCCTGAAAGAGGCGCTGCGCCTGGAGCGGGAGAACTCGCTGCAGAAGGCGTTCGCTGCCGCCGCGCCTGCGCAGCCCGGC
CAGGTCCTGGAGAGACAGGAGTTGGAGAGCCTCATCTGCCAGGCAGTCCACACCCAGATGGAGCTCCTGCAGGAGCTGCTGCAGCGCCAGATCCAGAACACATTC
GCCATCTTGGACCTGAAGCTTCAGAAGAAGACTCTGAACCTCAACGCCCCCACCCCTATCCCGCCCCCCATCACCAGCCACGCAGGCCAGGAGGAAGCCCTGAAG
CCCCAAAGAGCGAGCAAAGGAAAGAAAGCGAAGGCAAGGAAGTAG
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ATGGCACTCTTAACACCCCAGGGAGTGAAAGAAGTCTTCCAATTTCAGAGACCACAAGGTCGGGAGCGCCTGCGGAGGCTTCTGAACTGGGAGGAGTTTGACGAA
CAGAGAGACTCCCGGAGGAGCATCCTGCTGGACACCCTCTACGAGAGCATCATCTTTGCAGTGGGCAAAGGCTTCCCATGGGTGGAGGTGGCCCAGGTGGTCAAG
TTCACAGAAGAGCTGCTAAGGGAAACCAAAGGCTGCTCCATTACTGAGGCTGTGACGATCCTGGGGAACAAGCTTAGAGATTACCGGGGCCATTTCAACACCACC
CACCTGCTGGCCCTCTGTGACTACTTCCACCACACCTTCATCCGCCACTACAAACTCTACCAGTATGTCCTGGGCCAGGACCAGCAGGTCGACCTGACCGTTGCC
CACCTGGAGGTGTGCATGCCACCCCATCCCCTCCCGCTGGCCGAGGGCATGGACAGGGACTTGTGGATCCACGAGCAGCAGGTGGCCACACTGACGGAGGCCGAG
GCACAGAAGCGCGCCGACGTGCTGCTCCTGAAAGAGGCGCTGCGCCTGGAGCGGGAGAACTCGCTGCAGAAGGCGTTCGCTGCCGCCGCGCCTGCGCAGCCCGGC
CAGGTCCTGGAGAGACAGGAGTTGGAGAGCCTCATCTGCCAGGCAGTCCACACCCAGATGGAGCTCCTGCAGGAGCTGCTGCAGCGCCAGATCCAGAACACATTC
GCCATCTTGGACCTGAAGCTTCAGAAGAAGACTCTGAACCTCAACGCCCCCACCCCTATCCCGCCCCCCATCACCAGCCACGCAGGCCAGGAGGAAGCCCTGAAG
CCCCAAAGAGCGAGCAAAGGAAAGAAAGCGAAGGCAAGGAAGTAG
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>C8orf74|203076|protein
MALLTPQGVKEVFQFQRPQGRERLRRLLNWEEFDEQRDSRRSILLDTLYESIIFAVGKGFPWVEVAQVVKFTEELLRETKGCSITEAVTILGNKLRDYRGHFNTT
HLLALCDYFHHTFIRHYKLYQYVLGQDQQVDLTVAHLEVCMPPHPLPLAEGMDRDLWIHEQQVATLTEAEAQKRADVLLLKEALRLERENSLQKAFAAAAPAQPG
QVLERQELESLICQAVHTQMELLQELLQRQIQNTFAILDLKLQKKTLNLNAPTPIPPPITSHAGQEEALKPQRASKGKKAKARK
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MALLTPQGVKEVFQFQRPQGRERLRRLLNWEEFDEQRDSRRSILLDTLYESIIFAVGKGFPWVEVAQVVKFTEELLRETKGCSITEAVTILGNKLRDYRGHFNTT
HLLALCDYFHHTFIRHYKLYQYVLGQDQQVDLTVAHLEVCMPPHPLPLAEGMDRDLWIHEQQVATLTEAEAQKRADVLLLKEALRLERENSLQKAFAAAAPAQPG
QVLERQELESLICQAVHTQMELLQELLQRQIQNTFAILDLKLQKKTLNLNAPTPIPPPITSHAGQEEALKPQRASKGKKAKARK
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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 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 3 (5) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top