Evidence Details for C2orf48
Basic Information Top
| Gene Symbol: | C2orf48 ( FLJ25102 ) |
|---|---|
| Gene Full Name: | chromosome 2 open reading frame 48 |
| Band: | 2p25.1 |
| Quick Links | Entrez ID:348738; OMIM: NA; Uniprot ID:CB048_HUMAN; ENSEMBL ID: ENSG00000163009; HGNC ID: 26322 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C2orf48|348738|nucleotide
ATGGAGTCCAGGCCCTCGGGGAGACAGCACGCCAGTGAGGGAGATGGAGACCAATCACCCACCCAGTGTGCGGGGATGAGAAGCTCGGGAAGGTCTGACCAGCCT
TACGTCTTGAAAGGGAATCCCCTGCTTCTGCGTGTCAGGTGTTACTCGGGGTGCGCCAGTGGAAGCGGGAGGCAGTTGCAGCTTTCAGTCTTCCAGGATCTCAAC
CAGTTCTCTCACTGCAGAGTCTGGAGAAGCCCAGCCCTCATTGTGAAGGGAGAGCCACCGTGGTGCTCACAGCAAGACACCCAGAGTCCCTTCCAGACAGGGACA
CCCCTGGAGCGACCCTGTTTCAGAATGAAGTTATCTGGGTGGGAACTCACCAAGAATGCACAGAGGGCGCTGGGCTCCAAGCTTCAGCATATCCTTTCACTGGAC
TCCACACAGGCCTGCGGAGCAGGTGGACCCACCATTCTCAGACCCCCCAGGGCCCCATAG
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ATGGAGTCCAGGCCCTCGGGGAGACAGCACGCCAGTGAGGGAGATGGAGACCAATCACCCACCCAGTGTGCGGGGATGAGAAGCTCGGGAAGGTCTGACCAGCCT
TACGTCTTGAAAGGGAATCCCCTGCTTCTGCGTGTCAGGTGTTACTCGGGGTGCGCCAGTGGAAGCGGGAGGCAGTTGCAGCTTTCAGTCTTCCAGGATCTCAAC
CAGTTCTCTCACTGCAGAGTCTGGAGAAGCCCAGCCCTCATTGTGAAGGGAGAGCCACCGTGGTGCTCACAGCAAGACACCCAGAGTCCCTTCCAGACAGGGACA
CCCCTGGAGCGACCCTGTTTCAGAATGAAGTTATCTGGGTGGGAACTCACCAAGAATGCACAGAGGGCGCTGGGCTCCAAGCTTCAGCATATCCTTTCACTGGAC
TCCACACAGGCCTGCGGAGCAGGTGGACCCACCATTCTCAGACCCCCCAGGGCCCCATAG
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>C2orf48|348738|protein
MESRPSGRQHASEGDGDQSPTQCAGMRSSGRSDQPYVLKGNPLLLRVRCYSGCASGSGRQLQLSVFQDLNQFSHCRVWRSPALIVKGEPPWCSQQDTQSPFQTGT
PLERPCFRMKLSGWELTKNAQRALGSKLQHILSLDSTQACGAGGPTILRPPRAP
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MESRPSGRQHASEGDGDQSPTQCAGMRSSGRSDQPYVLKGNPLLLRVRCYSGCASGSGRQLQLSVFQDLNQFSHCRVWRSPALIVKGEPPWCSQQDTQSPFQTGT
PLERPCFRMKLSGWELTKNAQRALGSKLQHILSLDSTQACGAGGPTILRPPRAP
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (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 | ||||||
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top