Evidence Details for C12orf49
Basic Information Top
| Gene Symbol: | C12orf49 ( FLJ21415 ) |
|---|---|
| Gene Full Name: | chromosome 12 open reading frame 49 |
| Band: | 12q24.22 |
| Quick Links | Entrez ID:79794; OMIM: NA; Uniprot ID:CL049_HUMAN; ENSEMBL ID: ENSG00000111412; HGNC ID: 26128 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C12orf49|79794|nucleotide
ATGGTGAACCTGGCGGCCATGGTGTGGCGCCGGCTTCTGCGGAAGAGGTGGGTGCTCGCCCTGGTCTTCGGGCTGTCGCTCGTCTACTTCCTCAGCAGCACCTTC
AAGCAGGAGGAGAGGGCAGTGAGAGATAGGAATCTCCTCCAGGTTCATGACCATAATCAGCCCATCCCGTGGAAAGTGCAGTTTAACTTGGGCAATAGCAGTCGT
CCGAGCAATCAGTGCCGCAACTCCATTCAAGGGAAGCACCTCATCACGGATGAACTCGGCTACGTTTGCGAGAGGAAGGATTTGCTGGTAAATGGCTGCTGTAAT
GTCAACGTCCCTAGCACGAAGCAGTACTGCTGTGATGGCTGCTGGCCCAACGGCTGCTGCAGCGCCTATGAGTACTGTGTCTCCTGCTGCCTGCAGCCCAACAAG
CAACTTCTCCTGGAGCGCTTCCTCAACCGGGCAGCCGTGGCATTCCAGAACCTCTTCATGGCAGTCGAAGATCACTTTGAGTTGTGCCTGGCCAAATGCAGGACC
TCATCTCAGAGCGTGCAGCATGAGAACACCTACCGGGACCCCATAGCAAAGTATTGCTATGGAGAAAGCCCGCCCGAGCTCTTCCCCGCTTGA
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ATGGTGAACCTGGCGGCCATGGTGTGGCGCCGGCTTCTGCGGAAGAGGTGGGTGCTCGCCCTGGTCTTCGGGCTGTCGCTCGTCTACTTCCTCAGCAGCACCTTC
AAGCAGGAGGAGAGGGCAGTGAGAGATAGGAATCTCCTCCAGGTTCATGACCATAATCAGCCCATCCCGTGGAAAGTGCAGTTTAACTTGGGCAATAGCAGTCGT
CCGAGCAATCAGTGCCGCAACTCCATTCAAGGGAAGCACCTCATCACGGATGAACTCGGCTACGTTTGCGAGAGGAAGGATTTGCTGGTAAATGGCTGCTGTAAT
GTCAACGTCCCTAGCACGAAGCAGTACTGCTGTGATGGCTGCTGGCCCAACGGCTGCTGCAGCGCCTATGAGTACTGTGTCTCCTGCTGCCTGCAGCCCAACAAG
CAACTTCTCCTGGAGCGCTTCCTCAACCGGGCAGCCGTGGCATTCCAGAACCTCTTCATGGCAGTCGAAGATCACTTTGAGTTGTGCCTGGCCAAATGCAGGACC
TCATCTCAGAGCGTGCAGCATGAGAACACCTACCGGGACCCCATAGCAAAGTATTGCTATGGAGAAAGCCCGCCCGAGCTCTTCCCCGCTTGA
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>C12orf49|79794|protein
MVNLAAMVWRRLLRKRWVLALVFGLSLVYFLSSTFKQEERAVRDRNLLQVHDHNQPIPWKVQFNLGNSSRPSNQCRNSIQGKHLITDELGYVCERKDLLVNGCCN
VNVPSTKQYCCDGCWPNGCCSAYEYCVSCCLQPNKQLLLERFLNRAAVAFQNLFMAVEDHFELCLAKCRTSSQSVQHENTYRDPIAKYCYGESPPELFPA
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MVNLAAMVWRRLLRKRWVLALVFGLSLVYFLSSTFKQEERAVRDRNLLQVHDHNQPIPWKVQFNLGNSSRPSNQCRNSIQGKHLITDELGYVCERKDLLVNGCCN
VNVPSTKQYCCDGCWPNGCCSAYEYCVSCCLQPNKQLLLERFLNRAAVAFQNLFMAVEDHFELCLAKCRTSSQSVQHENTYRDPIAKYCYGESPPELFPA
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top