AutismKB 2.0

Evidence Details for CADPS2


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Basic Information Top
Gene Symbol:CADPS2 ( FLJ40851,KIAA1591 )
Gene Full Name: Ca++-dependent secretion activator 2
Band: 7q31.32
Quick LinksEntrez ID:93664; OMIM: 609978; Uniprot ID:CAPS2_HUMAN; ENSEMBL ID: ENSG00000081803; HGNC ID: 16018
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CADPS2|93664|nucleotide
ATGCTGGACCCGTCTTCCAGCGAAGAGGAGTCGGACGAGGGGCTGGAAGAGGAAAGCCGCGATGTGCTGGTGGCAGCCGGCAGCTCGCAGCGAGCTCCTCCAGCC
CCGACTCGGGAAGGGCGGCGGGACGCGCCGGGGCGCGCGGGCGGCGGCGGCGCGGCCAGATCTGTGAGCCCGAGCCCCTCTGTGCTCAGCGAGGGGCGAGACGAG
CCCCAGCGGCAGCTGGACGATGAGCAGGAGCGGAGGATCCGCCTGCAGCTCTACGTCTTCGTCGTGAGGTGCATCGCGTACCCCTTCAACGCCAAGCAGCCCACC
GACATGGCCCGGAGGCAGCAGAAGCTTAACAAACAACAGTTGCAGTTACTGAAAGAACGGTTCCAGGCCTTCCTCAATGGGGAAACCCAAATTGTAGCTGACGAA
GCATTTTGCAACGCAGTTCGGAGTTATTATGAGGTTTTTCTAAAGAGTGACCGAGTGGCCAGAATGGTACAGAGTGGAGGGTGTTCTGCTAATGACTTCAGAGAA
GTATTTAAGAAAAACATAGAAAAACGTGTGCGGAGTTTGCCAGAAATAGATGGCTTGAGCAAAGAGACAGTGTTGAGCTCATGGATAGCCAAATATGATGCCATT
TACAGAGGTGAAGAGGACTTGTGCAAACAGCCAAATAGAATGGCCCTAAGTGCAGTGTCTGAACTTATTCTGAGCAAGGAACAACTCTATGAAATGTTTCAGCAG
ATTCTGGGTATTAAAAAACTGGAACACCAGCTCCTTTATAATGCATGTCAGCTGGATAACGCAGATGAACAAGCAGCCCAGATCAGAAGGGAACTTGATGGCCGG
CTGCAATTGGCAGATAAAATGGCAAAGGAAAGAAAATTCCCCAAATTTATAGCAAAAGATATGGAGAATATGTATATAGAAGAGTTGCGGTCTTCAGTGAATTTG
CTAATGGCCAATTTGGAAAGTCTTCCAGTTTCGAAAGGTGGTCCGGAATTTAAATTACAAAAATTAAAACGTTCACAGAACTCTGCATTTTTGGACATAGGAGAT
GAGAATGAGATTCAGCTGTCAAAGTCCGACGTGGTACTGTCATTCACCTTAGAGATTGTCATAATGGAAGTGCAAGGCCTGAAGTCAGTTGCTCCCAATCGAATT
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>CADPS2|93664|protein
MLDPSSSEEESDEGLEEESRDVLVAAGSSQRAPPAPTREGRRDAPGRAGGGGAARSVSPSPSVLSEGRDEPQRQLDDEQERRIRLQLYVFVVRCIAYPFNAKQPT
DMARRQQKLNKQQLQLLKERFQAFLNGETQIVADEAFCNAVRSYYEVFLKSDRVARMVQSGGCSANDFREVFKKNIEKRVRSLPEIDGLSKETVLSSWIAKYDAI
YRGEEDLCKQPNRMALSAVSELILSKEQLYEMFQQILGIKKLEHQLLYNACQLDNADEQAAQIRRELDGRLQLADKMAKERKFPKFIAKDMENMYIEELRSSVNL
LMANLESLPVSKGGPEFKLQKLKRSQNSAFLDIGDENEIQLSKSDVVLSFTLEIVIMEVQGLKSVAPNRIVYCTMEVEGEKLQTDQAEASRPQWGTQGDFTTTHP
RPVVKVKLFTESTGVLALEDKELGRVILYPTSNSSKSAELHRMVVPKNSQDSDLKIKLAVRMDKPAHMKHSGYLYALGQKVWKRWKKRYFVLVQVSQYTFAMCSY
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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 (8) 1 (1) 0 (0) 2 (2) 0 (1) 0 (0) 0 (1) 1 (1) 16 (14)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Okamoto, 2011 Japan -ASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top