Evidence Details for CSRNP2
Basic Information Top
Gene Symbol: | CSRNP2 ( C12orf2,C12orf22,FAM130A1,FLJ25576,TAIP-12 ) |
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Gene Full Name: | cysteine-serine-rich nuclear protein 2 |
Band: | 12q13.12 |
Quick Links | Entrez 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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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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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 microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Spence, 2006 | USA | microsatellite-based genomic screen | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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