AutismKB 2.0

Evidence Details for RNPS1


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Basic Information Top
Gene Symbol:RNPS1 ( E5.1,MGC117332 )
Gene Full Name: RNA binding protein S1, serine-rich domain
Band: 16p13.3
Quick LinksEntrez ID:10921; OMIM: 606447; Uniprot ID:RNPS1_HUMAN; ENSEMBL ID: ENSG00000205937; HGNC ID: 10080
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RNPS1|10921|nucleotide
ATGGATTTATCAGGAGTGAAAAAGAAGAGCTTGCTAGGAGTCAAAGAAAATAATAAAAAGTCCAGCACTAGGGCTCCTTCACCTACCAAACGCAAAGACCGCTCA
GATGAGAAGTCCAAGGATCGCTCAAAAGATAAAGGGGCCACCAAGGAGTCGAGTGAGAAGGATCGCGGCCGGGACAAAACCCGAAAGAGGCGCAGCGCTTCCAGT
GGTAGCAGCAGTACCAGGTCTCGGTCCAGCTCGACTTCCAGCTCAGGCTCCAGCACCAGCACTGGCTCAAGCAGTGGCTCCAGCTCTTCCTCAGCATCCAGCCGC
TCAGGAAGCTCCAGCACCTCCCGCAGCTCCAGCTCTAGCAGCTCTTCTGGCTCTCCAAGTCCTTCTCGGCGCAGACACGACAACAGGAGGCGCTCCCGCTCCAAA
TCCAAACCACCTAAAAGAGATGAAAAGGAGAGGAAAAGGCGGAGCCCATCTCCTAAGCCCACCAAAGTGCACATTGGGAGACTCACCCGGAATGTGACAAAGGAT
CACATCATGGAGATATTTTCCACCTATGGGAAAATTAAAATGATTGACATGCCCGTGGAAAGGATGCATCCCCATCTGTCCAAAGGCTATGCGTACGTAGAGTTT
GAGAATCCAGATGAAGCCGAGAAGGCGCTGAAGCACATGGATGGAGGACAAATTGATGGCCAGGAGATCACTGCCACCGCCGTGCTGGCCCCCTGGCCTAGGCCA
CCCCCCAGGAGATTCAGCCCTCCCAGGAGAATGTTGCCACCACCGCCTATGTGGCGCAGGTCTCCCCCACGGATGAGGAGAAGGTCCCGCTCCCCGAGGCGCAGG
TCCCCCGTGCGCCGGAGATCACGGTCCCCGGGCCGCCGCCGCCACAGGAGCCGCTCCAGCTCCAACTCCTCCCGATAA


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>RNPS1|10921|protein
MDLSGVKKKSLLGVKENNKKSSTRAPSPTKRKDRSDEKSKDRSKDKGATKESSEKDRGRDKTRKRRSASSGSSSTRSRSSSTSSSGSSTSTGSSSGSSSSSASSR
SGSSSTSRSSSSSSSSGSPSPSRRRHDNRRRSRSKSKPPKRDEKERKRRSPSPKPTKVHIGRLTRNVTKDHIMEIFSTYGKIKMIDMPVERMHPHLSKGYAYVEF
ENPDEAEKALKHMDGGQIDGQEITATAVLAPWPRPPPRRFSPPRRMLPPPPMWRRSPPRMRRRSRSPRRRSPVRRRSRSPGRRRHRSRSSSNSSR


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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 (1) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (4)
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
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top