Evidence Details for C9orf46
Basic Information Top
| Gene Symbol: | C9orf46 ( FLJ14688,FLJ39176,MDS030 ) |
|---|---|
| Gene Full Name: | chromosome 9 open reading frame 46 |
| Band: | 9p24.1 |
| Quick Links | Entrez ID:55848; OMIM: NA; Uniprot ID:CI046_HUMAN; ENSEMBL ID: ENSG00000107020; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C9orf46|55848|nucleotide
ATGGGGTTTATATTTTCAAAATCTATGAATGAAAGCATGAAAAATCAAAAGGAGTTCATGCTTATGAATGCTCGACTTCAGCTGGAAAGGCAGCTCATCATGCAG
AGTGAAATGAGGGAAAGACAAATGGCCATGCGGATTGCGTGGTCTCGGGAATTCCTCAAATATTTTGGAACTTTTTTTGGCCTTGCAGCCATCTCTTTAACAGCT
GGAGCGATTAAAAAAAAGAAGCCAGCCTTCCTGGTCCCGATTGTTCCATTAAGCTTTATCCTCACCTACCAGTATGACTTGGGCTATGGAACCCTTTTAGAAAGA
ATGAAAGGTGAAGCTGAGGACATACTGGAAACAGAAAAGAGTAAATTGCAGCTGCCAAGAGGAATGATCACTTTTGAAAGCATTGAAAAAGCCAGAAAGGAACAG
AGTAGATTCTTCATAGACAAATGA
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ATGGGGTTTATATTTTCAAAATCTATGAATGAAAGCATGAAAAATCAAAAGGAGTTCATGCTTATGAATGCTCGACTTCAGCTGGAAAGGCAGCTCATCATGCAG
AGTGAAATGAGGGAAAGACAAATGGCCATGCGGATTGCGTGGTCTCGGGAATTCCTCAAATATTTTGGAACTTTTTTTGGCCTTGCAGCCATCTCTTTAACAGCT
GGAGCGATTAAAAAAAAGAAGCCAGCCTTCCTGGTCCCGATTGTTCCATTAAGCTTTATCCTCACCTACCAGTATGACTTGGGCTATGGAACCCTTTTAGAAAGA
ATGAAAGGTGAAGCTGAGGACATACTGGAAACAGAAAAGAGTAAATTGCAGCTGCCAAGAGGAATGATCACTTTTGAAAGCATTGAAAAAGCCAGAAAGGAACAG
AGTAGATTCTTCATAGACAAATGA
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>C9orf46|55848|protein
MGFIFSKSMNESMKNQKEFMLMNARLQLERQLIMQSEMRERQMAMRIAWSREFLKYFGTFFGLAAISLTAGAIKKKKPAFLVPIVPLSFILTYQYDLGYGTLLER
MKGEAEDILETEKSKLQLPRGMITFESIEKARKEQSRFFIDK
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MGFIFSKSMNESMKNQKEFMLMNARLQLERQLIMQSEMRERQMAMRIAWSREFLKYFGTFFGLAAISLTAGAIKKKKPAFLVPIVPLSFILTYQYDLGYGTLLER
MKGEAEDILETEKSKLQLPRGMITFESIEKARKEQSRFFIDK
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
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 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | |  | autism with nonaffected sib pairs | autism | 17 (-) |
1.02 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.