AutismKB 2.0

Evidence Details for RNPC3


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Basic Information Top
Gene Symbol:RNPC3 ( FLJ20008,FLJ25070,KIAA183,RBM40,RNP )
Gene Full Name: RNA-binding region (RNP1, RRM) containing 3
Band: 1p21.1
Quick LinksEntrez ID:55599; OMIM: NA; Uniprot ID:RBM40_HUMAN; ENSEMBL ID: ENSG00000185946; HGNC ID: 18666
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RNPC3|55599|nucleotide
ATGGCAGCTCCCGAGCAGCCGCTTGCGATATCAAGGGGATGCACGAGCTCCTCCTCGCTTTCCCCGCCTCGGGGCGACCGAACCCTTCTGGTCAGGCACCTGCCG
GCTGAGCTTACTGCTGAGGAGAAAGAGGACTTGCTGAAGTACTTCGGGGCTCAGTCTGTGCGGGTCCTGTCAGATAAGGGGCGACTGAAACATACAGCTTTTGCC
ACATTCCCTAATGAAAAAGCAGCTATAAAGGCATTGACAAGACTCCATCAACTGAAACTTTTAGGTCATACTTTAGTCGTTGAATTTGCAAAAGAGCAAGATCGA
GTTCACTCCCCATGTCCCACTTCAGGCTCTGAAAAAAAAAAAAGGTCTGATGACCCTGTCGAAGATGATAAAGAAAAAAAAGAACTTGGTTATTTAACAGTAGAA
AATGGAATTGCACCAAACCATGGGCTGACTTTTCCTTTAAATTCATGCCTCAAGTATATGTACCCACCACCTTCCAGCACAATCCTAGCAAACATTGTAAATGCC
TTGGCAAGCGTGCCTAAGTTCTATGTACAGGTCCTTCATCTTATGAATAAAATGAATTTGCCCACACCTTTTGGACCAATTACTGCGCGACCTCCCATGTATGAA
GACTATATGCCATTGCATGCACCTCTTCCACCCACATCTCCTCAGCCACCTGAGGAACCTCCTTTGCCAGACGAGGATGAGGAATTATCTAGTGAAGAATCAGAA
TATGAAAGCACTGATGATGAGGACCGACAGAGAATGAACAAATTAATGGAACTAGCAAATCTTCAGCCCAAAAGACCTAAAACAATAAAGCAGCGCCATGTGAGA
AAAAAGAGAAAAATAAAGGATATGTTGAATACACCTTTGTGTCCTTCACACAGCAGTTTACATCCAGTGCTGTTACCTTCAGATGTATTTGACCAACCACAACCT
GTAGGTAACAAAAGAATTGAATTCCATATATCTACCGACATGCCAGCTGCATTTAAGAAAGATTTAGAAAAGGAACAAAATTGTGAGGAAAAAAATCATGATTTA
CCTGCTACTGAAGTTGATGCATCCAATATAGGATTTGGAAAAATCTTCCCCAAACCTAATTTGGACATCACAGAGGAGATTAAAGAAGACTCTGATGAAATGCCT
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>RNPC3|55599|protein
MAAPEQPLAISRGCTSSSSLSPPRGDRTLLVRHLPAELTAEEKEDLLKYFGAQSVRVLSDKGRLKHTAFATFPNEKAAIKALTRLHQLKLLGHTLVVEFAKEQDR
VHSPCPTSGSEKKKRSDDPVEDDKEKKELGYLTVENGIAPNHGLTFPLNSCLKYMYPPPSSTILANIVNALASVPKFYVQVLHLMNKMNLPTPFGPITARPPMYE
DYMPLHAPLPPTSPQPPEEPPLPDEDEELSSEESEYESTDDEDRQRMNKLMELANLQPKRPKTIKQRHVRKKRKIKDMLNTPLCPSHSSLHPVLLPSDVFDQPQP
VGNKRIEFHISTDMPAAFKKDLEKEQNCEEKNHDLPATEVDASNIGFGKIFPKPNLDITEEIKEDSDEMPSECISRRELEKGRISREEMETLSVFRSYEPGEPNC
RIYVKNLAKHVQEKDLKYIFGRYVDFSSETQRIMFDIRLMKEGRMKGQAFIGLPNEKAAAKALKEANGYVLFGKPMVVQFARSARPKQDPKEGKRKC
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
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
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top