Evidence Details for CSRNP3
Basic Information Top
Gene Symbol: | CSRNP3 ( FAM130A2,FLJ11703,FLJ32093,FLJ44141,TAIP-2,TAIP2 ) |
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Gene Full Name: | cysteine-serine-rich nuclear protein 3 |
Band: | 2q24.3 |
Quick Links | Entrez ID:80034; OMIM: NA; Uniprot ID:CSRN3_HUMAN; ENSEMBL ID: ENSG00000178662; HGNC ID: 30729 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CSRNP3|80034|nucleotide
ATGAGTGGAATTTTAAAGAGGAAGTTTGAAGAAGTTGACGGCTCCTCACCCTGCTCCTCTGTGAGGGAATCAGATGATGAAGTTTCCAGCAGTGAAAGTGCTGAC
AGTGGGGACAGTGTCAATCCATCCACTTCTAGTCATTTTACCCCTTCCTCCATTCTCAAAAGGGAGAAACGACTGAGGACAAAGAATGTACATTTTAGTTGTGTC
ACCGTGTACTACTTCACCAGGAGGCAAGGCTTCACAAGTGTGCCCAGTCAAGGGGGAAGCACCCTGGGGATGTCCAGCCGCCATAACAGCGTGCGCCAGTACACT
CTTGGCGAGTTTGCAAGGGAGCAGGAGAGGCTCCACCGGGAGATGTTGAGAGAACACCTTAGGGAGGAAAAGCTGAACTCCTTAAAACTAAAGATGACTAAGAAT
GGCACAGTAGAATCAGAAGAAGCCAGCACTCTTACACTGGATGACATTTCTGATGATGACATTGACCTGGACAACACAGAGGTAGATGAGTACTTCTTCCTACAA
CCTTTGCCAACAAAAAAACGAAGAGCTCTGCTGCGTGCCTCTGGAGTGAAAAAGATTGACGTGGAAGAAAAGCACGAACTCCGAGCCATCCGCCTCTCACGAGAG
GACTGTGGCTGTGACTGCCGAGTGTTCTGTGATCCAGACACGTGCACCTGCAGCCTGGCTGGCATTAAGTGCCAGGTGGATCGTATGTCTTTCCCATGCGGCTGC
ACTAAAGAAGGATGTAGTAACACAGCAGGTAGAATTGAATTTAATCCTATCCGTGTTCGGACTCACTTTTTGCACACAATAATGAAACTTGAACTGGAGAAAAAC
CGAGAGCAGCAAATCCCCACGCTGAATGGCTGCCACAGTGAGATAAGTGCTCACAGTAGTTCTATGGGCCCTGTCGCTCACTCCGTAGAATATTCAATCGCAGAC
AGTTTTGAGATTGAAACTGAGCCCCAGGCTGCAGTGCTGCACCTGCAGTCGGCTGAAGAATTAGATTGCCAAGGAGAGGAGGAGGAAGAAGAGGAGGATGGGAGC
AGCTTTTGCAGCGGAGTCACAGATTCTAGCACGCAAAGCTTGGCACCTAGTGAGTCAGACGAGGAGGAGGAGGAAGAAGAAGAGGAAGAGGAGGAGGAGGATGAC
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ATGAGTGGAATTTTAAAGAGGAAGTTTGAAGAAGTTGACGGCTCCTCACCCTGCTCCTCTGTGAGGGAATCAGATGATGAAGTTTCCAGCAGTGAAAGTGCTGAC
AGTGGGGACAGTGTCAATCCATCCACTTCTAGTCATTTTACCCCTTCCTCCATTCTCAAAAGGGAGAAACGACTGAGGACAAAGAATGTACATTTTAGTTGTGTC
ACCGTGTACTACTTCACCAGGAGGCAAGGCTTCACAAGTGTGCCCAGTCAAGGGGGAAGCACCCTGGGGATGTCCAGCCGCCATAACAGCGTGCGCCAGTACACT
CTTGGCGAGTTTGCAAGGGAGCAGGAGAGGCTCCACCGGGAGATGTTGAGAGAACACCTTAGGGAGGAAAAGCTGAACTCCTTAAAACTAAAGATGACTAAGAAT
GGCACAGTAGAATCAGAAGAAGCCAGCACTCTTACACTGGATGACATTTCTGATGATGACATTGACCTGGACAACACAGAGGTAGATGAGTACTTCTTCCTACAA
CCTTTGCCAACAAAAAAACGAAGAGCTCTGCTGCGTGCCTCTGGAGTGAAAAAGATTGACGTGGAAGAAAAGCACGAACTCCGAGCCATCCGCCTCTCACGAGAG
GACTGTGGCTGTGACTGCCGAGTGTTCTGTGATCCAGACACGTGCACCTGCAGCCTGGCTGGCATTAAGTGCCAGGTGGATCGTATGTCTTTCCCATGCGGCTGC
ACTAAAGAAGGATGTAGTAACACAGCAGGTAGAATTGAATTTAATCCTATCCGTGTTCGGACTCACTTTTTGCACACAATAATGAAACTTGAACTGGAGAAAAAC
CGAGAGCAGCAAATCCCCACGCTGAATGGCTGCCACAGTGAGATAAGTGCTCACAGTAGTTCTATGGGCCCTGTCGCTCACTCCGTAGAATATTCAATCGCAGAC
AGTTTTGAGATTGAAACTGAGCCCCAGGCTGCAGTGCTGCACCTGCAGTCGGCTGAAGAATTAGATTGCCAAGGAGAGGAGGAGGAAGAAGAGGAGGATGGGAGC
AGCTTTTGCAGCGGAGTCACAGATTCTAGCACGCAAAGCTTGGCACCTAGTGAGTCAGACGAGGAGGAGGAGGAAGAAGAAGAGGAAGAGGAGGAGGAGGATGAC
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>CSRNP3|80034|protein
MSGILKRKFEEVDGSSPCSSVRESDDEVSSSESADSGDSVNPSTSSHFTPSSILKREKRLRTKNVHFSCVTVYYFTRRQGFTSVPSQGGSTLGMSSRHNSVRQYT
LGEFAREQERLHREMLREHLREEKLNSLKLKMTKNGTVESEEASTLTLDDISDDDIDLDNTEVDEYFFLQPLPTKKRRALLRASGVKKIDVEEKHELRAIRLSRE
DCGCDCRVFCDPDTCTCSLAGIKCQVDRMSFPCGCTKEGCSNTAGRIEFNPIRVRTHFLHTIMKLELEKNREQQIPTLNGCHSEISAHSSSMGPVAHSVEYSIAD
SFEIETEPQAAVLHLQSAEELDCQGEEEEEEEDGSSFCSGVTDSSTQSLAPSESDEEEEEEEEEEEEEDDDDDKGDGFVEGLGTHAEVVPLPSVLCYSDGTAVHE
SHAKNASFYANSSTLYYQIDSHIPGTPNQISENYSERDTVKNGTLSLVPYTMTPEQFVDYARQAEEAYGASHYPAANPSVIVCCSSSENDSGVPCNSLYPEHRSN
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MSGILKRKFEEVDGSSPCSSVRESDDEVSSSESADSGDSVNPSTSSHFTPSSILKREKRLRTKNVHFSCVTVYYFTRRQGFTSVPSQGGSTLGMSSRHNSVRQYT
LGEFAREQERLHREMLREHLREEKLNSLKLKMTKNGTVESEEASTLTLDDISDDDIDLDNTEVDEYFFLQPLPTKKRRALLRASGVKKIDVEEKHELRAIRLSRE
DCGCDCRVFCDPDTCTCSLAGIKCQVDRMSFPCGCTKEGCSNTAGRIEFNPIRVRTHFLHTIMKLELEKNREQQIPTLNGCHSEISAHSSSMGPVAHSVEYSIAD
SFEIETEPQAAVLHLQSAEELDCQGEEEEEEEDGSSFCSGVTDSSTQSLAPSESDEEEEEEEEEEEEEDDDDDKGDGFVEGLGTHAEVVPLPSVLCYSDGTAVHE
SHAKNASFYANSSTLYYQIDSHIPGTPNQISENYSERDTVKNGTLSLVPYTMTPEQFVDYARQAEEAYGASHYPAANPSVIVCCSSSENDSGVPCNSLYPEHRSN
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (1) | 0 (0) | 0 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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. |
Turner TN, 2016 | 53 | - | 27 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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