Evidence Details for C3orf58
Basic Information Top
| Gene Symbol: | C3orf58 ( DIA1,MGC33365 ) |
|---|---|
| Gene Full Name: | chromosome 3 open reading frame 58 |
| Band: | 3q24 |
| Quick Links | Entrez ID:205428; OMIM: 612200; Uniprot ID:CC058_HUMAN; ENSEMBL ID: ENSG00000181744; HGNC ID: 28490 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C3orf58|205428|nucleotide
ATGAAGTCGGAGAACGGGACAGTGGTCGGGAGTTTTCCGTCTGATGAAGGTTGGCCATTTGCAAAGTATCTTGGAGCTTGTGGAAGAATGGTGGCTGTAAATTAT
GTTGGAGAAGAACTGTGGAGTTACTTTAATGCGCCATGGGAAAAACGAGTTGACCTCGCTTGGCAATTAATGGAAATAGCAGAACAGCTTACAAACAATGACTTT
GAATTTGCACTCTACCTCCTGGACGTCAGCTTTGACAATTTTGCAGTTGGTCCTAGAGATGGGAAGGTAATCATTGTGGATGCTGAAAATGTTTTGGTTGCTGAC
AAAAGATTAATTAGACAAAATAAACCTGAAAATTGGGATGTATGGTATGAAAGCAAGTTTGATGACTGTGATAAGGAGGCTTGCTTATCATTTTCAAAAGAAATT
CTTTGTGCTCGTGCCACTGTGGACCACAATTACTATGCTGTTTGTCAGAACCTCTTATCCAGACATGCCACCTGGCGTGGCACTTCTGGAGGACTCCTTCATGAT
CCACCAAGTGAAATTGCCAAAGATGGCCGGCTCGAGGCCTTGCTGGATGAGTGTGCCAACCCAAAGAAGCGCTATGGCAGATTCCAGGCTGCAAAAGAACTGCGT
GAATACCTAGCACAATTAAGTAACAACGTGAGGTAG
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ATGAAGTCGGAGAACGGGACAGTGGTCGGGAGTTTTCCGTCTGATGAAGGTTGGCCATTTGCAAAGTATCTTGGAGCTTGTGGAAGAATGGTGGCTGTAAATTAT
GTTGGAGAAGAACTGTGGAGTTACTTTAATGCGCCATGGGAAAAACGAGTTGACCTCGCTTGGCAATTAATGGAAATAGCAGAACAGCTTACAAACAATGACTTT
GAATTTGCACTCTACCTCCTGGACGTCAGCTTTGACAATTTTGCAGTTGGTCCTAGAGATGGGAAGGTAATCATTGTGGATGCTGAAAATGTTTTGGTTGCTGAC
AAAAGATTAATTAGACAAAATAAACCTGAAAATTGGGATGTATGGTATGAAAGCAAGTTTGATGACTGTGATAAGGAGGCTTGCTTATCATTTTCAAAAGAAATT
CTTTGTGCTCGTGCCACTGTGGACCACAATTACTATGCTGTTTGTCAGAACCTCTTATCCAGACATGCCACCTGGCGTGGCACTTCTGGAGGACTCCTTCATGAT
CCACCAAGTGAAATTGCCAAAGATGGCCGGCTCGAGGCCTTGCTGGATGAGTGTGCCAACCCAAAGAAGCGCTATGGCAGATTCCAGGCTGCAAAAGAACTGCGT
GAATACCTAGCACAATTAAGTAACAACGTGAGGTAG
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>C3orf58|205428|protein
MKSENGTVVGSFPSDEGWPFAKYLGACGRMVAVNYVGEELWSYFNAPWEKRVDLAWQLMEIAEQLTNNDFEFALYLLDVSFDNFAVGPRDGKVIIVDAENVLVAD
KRLIRQNKPENWDVWYESKFDDCDKEACLSFSKEILCARATVDHNYYAVCQNLLSRHATWRGTSGGLLHDPPSEIAKDGRLEALLDECANPKKRYGRFQAAKELR
EYLAQLSNNVR
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MKSENGTVVGSFPSDEGWPFAKYLGACGRMVAVNYVGEELWSYFNAPWEKRVDLAWQLMEIAEQLTNNDFEFALYLLDVSFDNFAVGPRDGKVIIVDAENVLVAD
KRLIRQNKPENWDVWYESKFDDCDKEACLSFSKEILCARATVDHNYYAVCQNLLSRHATWRGTSGGLLHDPPSEIAKDGRLEALLDECANPKKRYGRFQAAKELR
EYLAQLSNNVR
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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) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 10 (3) |
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 | ||||||
| Morrow, 2008 | USA | aCGH, SNP microarray |  | | ASD | 104 | 79 | 25 | - | - | - | - |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top