AutismKB 2.0

Evidence Details for RBM5


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Basic Information Top
Gene Symbol:RBM5 ( FLJ39876,G15,LUCA15,RMB5 )
Gene Full Name: RNA binding motif protein 5
Band: 3p21.31
Quick LinksEntrez ID:10181; OMIM: 606884; Uniprot ID:RBM5_HUMAN; ENSEMBL ID: ENSG00000003756; HGNC ID: 9902
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBM5|10181|nucleotide
ATGGGTTCAGACAAAAGAGTGAGTAGAACAGAGCGTAGTGGAAGATACGGTTCCATCATAGACAGGGATGACCGTGATGAGCGTGAATCCCGAAGCAGGCGGAGG
GACTCAGATTACAAAAGATCTAGTGATGATCGGAGGGGTGATAGATATGATGACTACCGAGACTATGACAGTCCAGAGAGAGAGCGTGAAAGAAGGAACAGTGAC
CGATCCGAAGATGGCTACCATTCAGATGGTGACTATGGTGAGCACGACTATAGGCATGACATCAGTGACGAGAGGGAGAGCAAGACCATCATGCTGCGCGGCCTT
CCCATCACCATCACAGAGAGCGATATTCGAGAAATGATGGAGTCCTTCGAAGGCCCTCAGCCTGCGGATGTGAGGCTGATGAAGAGGAAAACAGGTGTAAGCCGT
GGTTTCGCCTTCGTGGAGTTTTATCACTTGCAAGATGCTACCAGCTGGATGGAAGCCAATCAGAAAAAGTTGGTGATTCAAGGAAAGCACATTGCAATGCATTAT
AGCAATCCCAGACCTAAGTTTGAAGATTGGCTTTGTAACAAGTGCTGCCTTAACAATTTCAGGAAAAGACTAAAATGCTTCCGATGTGGAGCAGACAAGTTTGAC
TCTGAACAGGAAGTGCCTCCTGGAACCACAGAGTCGGTTCAGTCTGTGGATTACTACTGTGATACGATCATTCTTCGGAACATAGCTCCGCACACTGTGGTGGAT
TCCATCATGACAGCACTGTCTCCTTACGCGTCTTTAGCTGTCAATAACATCCGCCTCATAAAAGACAAACAGACCCAGCAGAACAGAGGCTTCGCATTTGTGCAG
CTGTCCTCTGCAATGGATGCTTCTCAGCTGCTTCAGATATTACAGAGTCTCCATCCTCCTTTGAAAATTGATGGCAAAACTATTGGGGTTGATTTTGCAAAAAGT
GCCAGAAAAGACTTGGTCCTCTCAGATGGTAACCGCGTCAGCGCTTTCTCTGTAGCTAGTACGGCTATTGCTGCTGCTCAGTGGTCATCCACCCAGTCTCAAAGT
GGTGAAGGAGGCAGTGTTGACTACAGTTATCTGCAACCAGGTCAAGATGGCTATGCCCAATATGCTCAGTATTCACAGGATTATCAGCAGTTTTATCAACAACAA
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>RBM5|10181|protein
MGSDKRVSRTERSGRYGSIIDRDDRDERESRSRRRDSDYKRSSDDRRGDRYDDYRDYDSPERERERRNSDRSEDGYHSDGDYGEHDYRHDISDERESKTIMLRGL
PITITESDIREMMESFEGPQPADVRLMKRKTGVSRGFAFVEFYHLQDATSWMEANQKKLVIQGKHIAMHYSNPRPKFEDWLCNKCCLNNFRKRLKCFRCGADKFD
SEQEVPPGTTESVQSVDYYCDTIILRNIAPHTVVDSIMTALSPYASLAVNNIRLIKDKQTQQNRGFAFVQLSSAMDASQLLQILQSLHPPLKIDGKTIGVDFAKS
ARKDLVLSDGNRVSAFSVASTAIAAAQWSSTQSQSGEGGSVDYSYLQPGQDGYAQYAQYSQDYQQFYQQQAGGLESDASSASGTAVTTTSAAVVSQSPQLYNQTS
NPPGSPTEEAQPSTSTSTQAPAASPTGVVPGTKYAVPDTSTYQYDESSGYYYDPTTGLYYDPNSQYYYNSLTQQYLYWDGEKETYVPAAESSSHQQSGLPPAKEG
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top