Evidence Details for CSDC2
Basic Information Top
| Gene Symbol: | CSDC2 ( PIPPIN,dJ347H13.2 ) |
|---|---|
| Gene Full Name: | cold shock domain containing C2, RNA binding |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:27254; OMIM: NA; Uniprot ID:CSDC2_HUMAN; ENSEMBL ID: ENSG00000172346; HGNC ID: 30359 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CSDC2|27254|nucleotide
ATGACTTCAGAGTCGACGTCACCCCCAGTTGTGCCCCCGCTCCACTCCCCCAAGTCCCCAGTCTGGCCCACCTTCCCCTTCCACAGGGAGGGCAGCAGGGTCTGG
GAGCGGGGTGGTGTCCCACCTCGGGACCTACCCAGCCCTCTGCCCACCAAGCGGACCAGGACCTATTCAGCGACAGCCCGGGCCTCAGCTGGCCCCGTGTTCAAG
GGCGTCTGTAAGCAGTTCTCACGCTCACAGGGCCATGGCTTCATCACCCCCGAGAACGGGTCCGAGGACATCTTCGTACATGTGTCTGACATCGAGGGGGAGTAC
GTGCCAGTGGAGGGCGACGAGGTGACCTACAAGATGTGCCCTATCCCTCCCAAGAACCAGAAGTTCCAGGCCGTGGAGGTGGTGCTCACTCAGCTGGCCCCCCAC
ACTCCCCACGAGACGTGGTCTGGCCAGGTCGTGGGCTCCTAG
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ATGACTTCAGAGTCGACGTCACCCCCAGTTGTGCCCCCGCTCCACTCCCCCAAGTCCCCAGTCTGGCCCACCTTCCCCTTCCACAGGGAGGGCAGCAGGGTCTGG
GAGCGGGGTGGTGTCCCACCTCGGGACCTACCCAGCCCTCTGCCCACCAAGCGGACCAGGACCTATTCAGCGACAGCCCGGGCCTCAGCTGGCCCCGTGTTCAAG
GGCGTCTGTAAGCAGTTCTCACGCTCACAGGGCCATGGCTTCATCACCCCCGAGAACGGGTCCGAGGACATCTTCGTACATGTGTCTGACATCGAGGGGGAGTAC
GTGCCAGTGGAGGGCGACGAGGTGACCTACAAGATGTGCCCTATCCCTCCCAAGAACCAGAAGTTCCAGGCCGTGGAGGTGGTGCTCACTCAGCTGGCCCCCCAC
ACTCCCCACGAGACGTGGTCTGGCCAGGTCGTGGGCTCCTAG
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>CSDC2|27254|protein
MTSESTSPPVVPPLHSPKSPVWPTFPFHREGSRVWERGGVPPRDLPSPLPTKRTRTYSATARASAGPVFKGVCKQFSRSQGHGFITPENGSEDIFVHVSDIEGEY
VPVEGDEVTYKMCPIPPKNQKFQAVEVVLTQLAPHTPHETWSGQVVGS
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MTSESTSPPVVPPLHSPKSPVWPTFPFHREGSRVWERGGVPPRDLPSPLPTKRTRTYSATARASAGPVFKGVCKQFSRSQGHGFITPENGSEDIFVHVSDIEGEY
VPVEGDEVTYKMCPIPPKNQKFQAVEVVLTQLAPHTPHETWSGQVVGS
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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 (0) | 0 (0) | 3 (4) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.958894 | Down | 56.2589 | |
| ||||||||||||
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.