AutismKB 2.0

Evidence Details for CAPRIN2


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Basic Information Top
Gene Symbol:CAPRIN2 ( C1QDC1,EEG-1,EEG1,FLJ11391,FLJ22569,KIAA1873,MGC102894,MGC134847,MGC134848,RNG140,caprin-2 )
Gene Full Name: caprin family member 2
Band: 12p11.21
Quick LinksEntrez ID:65981; OMIM: 610375; Uniprot ID:CAPR2_HUMAN; ENSEMBL ID: ENSG00000110888; HGNC ID: 21259
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAPRIN2|65981|nucleotide
ATGGAAGTACAAGTATCTCAAGCATCATTGGGTTTCGAGCTCACTTCTGTGGAAAAGAGTTTAAGGGAGTGGTCTAGACTTTCCAGGGAAGTTATTGCCTGGCTG
TGTCCCTCTAGTCCTAATTTTATACTTAACTTTCCCCCACCTCCTTCAGCCTCATCTGTTTCAATGGTGCAACTCTTTTCATCCCCTTTTGGTTACCAGTCACCT
TCAGGCCATTCAGAGGAGGAAAGAGAGGGGAATATGAAGTCAGCCAAGCCCCAAGTGAACCACAGTCAGCATGGGGAAAGCCAGCGGGCCTTGAGCCCCCTGCAG
TCTACTCTGAGTTCTGCTGCATCTCCTTCCCAAGCGTATGAGACCTATATTGAAAATGGACTCATATGCCTTAAACACAAAATTAGAAACATCGAGAAAAAGAAG
CTCAAACTGGAGGATTATAAGGATCGCCTGAAAAGTGGAGAGCATCTTAATCCAGACCAGTTGGAAGCTGTAGAGAAATATGAAGAAGTGCTACATAATTTGGAA
TTTGCCAAGGAGCTTCAAAAAACCTTTTCTGGGTTGAGCCTAGATCTACTAAAAGCGCAAAAGAAGGCCCAGAGAAGGGAGCACATGCTAAAACTTGAGGCTGAG
AAGAAAAAGCTTCGAACTATACTTCAAGTTCAGTATGTATTGCAGAACTTGACACAGGAGCACGTACAAAAAGACTTCAAAGGGGGTTTGAATGGTGCAGTGTAT
TTGCCTTCAAAAGAACTTGACTACCTCATTAAGTTTTCAAAACTGACCTGCCCTGAAAGAAATGAAAGTCTGAGTGTTGAAGACCAGATGGAGCAGTCATCCTTG
TACTTTTGGGACCTTTTGGAAGGTAGTGAGAAAGCAGTGGTAGGAACGACATACAAACACTTGAAGGATCTACTGTCTAAATTGCTGAACTCAGGCTATTTTGAA
AGTATCCCAGTTCCCAAAAATGCCAAGGAAAAGGAAGTACCACTGGAGGAAGAAATGCTAATACAATCAGAGAAAAAAACACAATTATCGAAGACTGAATCTGTC
AAAGAGTCAGAGTCTCTAATGGAATTTGCCCAGCCAGAGATACAACCACAAGAGTTTCTTAACAGACGCTATATGACAGAAGTAGATTATTCAAACAAACAAGGC
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>CAPRIN2|65981|protein
MEVQVSQASLGFELTSVEKSLREWSRLSREVIAWLCPSSPNFILNFPPPPSASSVSMVQLFSSPFGYQSPSGHSEEEREGNMKSAKPQVNHSQHGESQRALSPLQ
STLSSAASPSQAYETYIENGLICLKHKIRNIEKKKLKLEDYKDRLKSGEHLNPDQLEAVEKYEEVLHNLEFAKELQKTFSGLSLDLLKAQKKAQRREHMLKLEAE
KKKLRTILQVQYVLQNLTQEHVQKDFKGGLNGAVYLPSKELDYLIKFSKLTCPERNESLSVEDQMEQSSLYFWDLLEGSEKAVVGTTYKHLKDLLSKLLNSGYFE
SIPVPKNAKEKEVPLEEEMLIQSEKKTQLSKTESVKESESLMEFAQPEIQPQEFLNRRYMTEVDYSNKQGEEQPWEADYARKPNLPKRWDMLTEPDGQEKKQESF
KSWEASGKHQEVSKPAVSLEQRKQDTSKLRSTLPEEQKKQEISKSKPSPSQWKQDTPKSKAGYVQEEQKKQETPKLWPVQLQKEQDPKKQTPKSWTPSMQSEQNT
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
Chen CP, 2014 - aCGHautism - - - - 1 - 1
Linkage Studies Top