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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018