AutismKB 2.0

Evidence Details for CSRNP2


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Basic Information Top
Gene Symbol:CSRNP2 ( C12orf2,C12orf22,FAM130A1,FLJ25576,TAIP-12 )
Gene Full Name: cysteine-serine-rich nuclear protein 2
Band: 12q13.12
Quick LinksEntrez ID:81566; OMIM: NA; Uniprot ID:CSRN2_HUMAN; ENSEMBL ID: ENSG00000110925; HGNC ID: 16006
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CSRNP2|81566|nucleotide
ATGGATGCATTCACGGGCTCGGGTCTCAAGAGGAAGTTTGATGATGTGGATGTGGGCTCATCAGTTTCCAACTCAGATGATGAGATCTCCAGCAGTGATAGTGCT
GACAGCTGCGACAGCCTCAATCCTCCTACCACTGCCAGCTTCACACCCACATCCATCCTGAAGCGGCAGAAGCAGCTGCGGAGGAAGAATGTACGCTTTGACCAG
GTGACTGTATACTACTTTGCCCGGCGCCAAGGTTTTACCAGTGTGCCCAGCCAGGGTGGTAGCTCTCTGGGCATGGCCCAGCGCCATAACTCTGTACGGAGCTAT
ACACTCTGTGAGTTTGCCCAGGAACAGGAGGTGAACCATCGAGAGATTCTGCGTGAGCACCTGAAGGAAGAGAAACTCCATGCCAAGAAAATGAAGCTGACCAAG
AATGGGACAGTGGAGTCGGTGGAGGCTGATGGCCTGACGCTGGATGATGTGTCAGATGAAGATATTGATGTGGAAAATGTGGAGGTGGATGATTACTTCTTCCTG
CAGCCTCTGCCCACCAAACGGCGACGGGCCCTGCTGAGGGCTTCTGGGGTCCACCGTATTGATGCTGAAGAGAAGCAAGAACTTCGAGCCATCCGCCTGTCACGG
GAAGAATGTGGTTGTGACTGCCGACTGTATTGTGACCCAGAAGCGTGTGCCTGCAGCCAGGCTGGGATTAAATGCCAGGTGGATCGCATGTCCTTTCCATGTGGC
TGCTCCCGGGATGGCTGTGGGAACATGGCAGGACGCATTGAATTTAATCCAATCCGGGTCCGGACTCATTACCTCCACACCATTATGAAGCTGGAGCTGGAGAGC
AAGCGGCAGGTGAGCCGCCCAGCAGCCCCAGATGAGGAGCCCTCCCCGACTGCCAGTTGCAGCCTGACAGGAGCACAGGGCTCTGAGACCCAGGACTTCCAGGAG
TTCATTGCTGAGAATGAGACAGCAGTGATGCACCTGCAGAGTGCAGAGGAACTGGAGCGGCTCAAGGCAGAAGAAGATTCCAGCGGCTCTAGTGCCAGCCTGGAC
TCGAGCATCGAGAGCCTGGGTGTGTGCATCCTAGAGGAGCCTCTGGCTGTCCCCGAAGAGCTGTGCCCAGGCCTTACAGCCCCCATTCTCATCCAGGCTCAGCTG
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>CSRNP2|81566|protein
MDAFTGSGLKRKFDDVDVGSSVSNSDDEISSSDSADSCDSLNPPTTASFTPTSILKRQKQLRRKNVRFDQVTVYYFARRQGFTSVPSQGGSSLGMAQRHNSVRSY
TLCEFAQEQEVNHREILREHLKEEKLHAKKMKLTKNGTVESVEADGLTLDDVSDEDIDVENVEVDDYFFLQPLPTKRRRALLRASGVHRIDAEEKQELRAIRLSR
EECGCDCRLYCDPEACACSQAGIKCQVDRMSFPCGCSRDGCGNMAGRIEFNPIRVRTHYLHTIMKLELESKRQVSRPAAPDEEPSPTASCSLTGAQGSETQDFQE
FIAENETAVMHLQSAEELERLKAEEDSSGSSASLDSSIESLGVCILEEPLAVPEELCPGLTAPILIQAQLPPGSSVLCFTENSDHPTASTVNSPSYLNSGPLVYY
QVEQRPVLGVKGEPGTEEGSASFPKEKDLNVFSLPVTSLVACSSTDPAALCKSEVGKTPTLEALLPEDCNPEEPENEDFHPSWSPSSLPFRTDNEEGCGMVKTSQ
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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (1) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top