AutismKB 2.0

Evidence Details for CSDC2


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Basic Information Top
Gene Symbol:CSDC2 ( PIPPIN,dJ347H13.2 )
Gene Full Name: cold shock domain containing C2, RNA binding
Band: 22q13.2
Quick LinksEntrez 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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>CSDC2|27254|protein
MTSESTSPPVVPPLHSPKSPVWPTFPFHREGSRVWERGGVPPRDLPSPLPTKRTRTYSATARASAGPVFKGVCKQFSRSQGHGFITPENGSEDIFVHVSDIEGEY
VPVEGDEVTYKMCPIPPKNQKFQAVEVVLTQLAPHTPHETWSGQVVGS



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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top