AutismKB 2.0

Evidence Details for RBM39


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Basic Information Top
Gene Symbol:RBM39 ( CAPER,CAPERalpha,CC1.3,DKFZp781C0423,FLJ44170,HCC1,RNPC2,fSAP59 )
Gene Full Name: RNA binding motif protein 39
Band: 20q11.22
Quick LinksEntrez ID:9584; OMIM: 604739; Uniprot ID:RBM39_HUMAN; ENSEMBL ID: ENSG00000131051; HGNC ID: 15923
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBM39|9584|nucleotide
ATGGCAGACGATATTGATATTGAAGCAATGCTTGAGGCTCCTTACAAGAAGGATGAGAACAAGTTGAGCAGTGCCAACGGCCATGAAGAACGTAGCAAAAAGAGG
AAAAAAAGCAAGAGCAGAAGTCGTAGTCATGAACGAAAGAGAAGCAAAAGTAAGGAACGGAAGCGAAGTAGAGACAGAGAAAGGAAAAAGAGCAAAAGCCGTGAA
AGAAAGCGAAGTAGAAGCAAAGAGAGGCGACGGAGCCGCTCAAGAAGTCGAGATCGAAGATTTAGAGGCCGCTACAGAAGTCCTTACTCCGGACCAAAATTTAAC
AGTGCCATCCGAGGAAAGATTGGGTTGCCTCATAGCATCAAATTAAGCAGACGACGTTCCCGAAGCAAAAGTCCATTCAGAAAAGACAAGAGCCCTGTGAGAGAA
CCTATTGATAATTTAACTCCTGAGGAAAGAGATGCAAGGACAGTCTTCTGTATGCAGCTGGCGGCAAGAATTCGACCAAGGGATTTGGAAGAGTTTTTCTCTACA
GTAGGAAAGGTTCGAGATGTGAGGATGATTTCTGACAGAAATTCAAGACGTTCCAAAGGAATTGCTTATGTGGAGTTCGTCGATGTTAGCTCAGTGCCTCTAGCA
ATAGGATTAACTGGCCAACGAGTTTTAGGCGTGCCAATCATAGTACAGGCATCACAGGCAGAAAAAAACAGAGCTGCAGCAATGGCAAACAATTTACAAAAGGGA
AGTGCTGGACCTATGAGGCTTTATGTGGGCTCATTACACTTCAACATAACTGAAGATATGCTTCGTGGGATCTTTGAGCCTTTTGGAAGAATTGAAAGTATCCAG
CTGATGATGGACAGTGAAACTGGTCGATCCAAGGGATATGGATTTATTACATTTTCTGACTCAGAATGTGCCAAAAAGGCTTTGGAACAACTTAATGGATTTGAA
CTAGCAGGAAGACCAATGAAAGTTGGTCATGTTACTGAACGTACTGATGCTTCGAGTGCTAGTTCATTTTTGGACAGTGATGAACTGGAAAGGACTGGAATTGAT
TTGGGAACAACTGGTCGTCTTCAGTTAATGGCAAGACTTGCAGAGGGTACAGGTTTGCAGATTCCGCCAGCAGCACAGCAAGCTCTACAGATGAGTGGCTCTTTG
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>RBM39|9584|protein
MADDIDIEAMLEAPYKKDENKLSSANGHEERSKKRKKSKSRSRSHERKRSKSKERKRSRDRERKKSKSRERKRSRSKERRRSRSRSRDRRFRGRYRSPYSGPKFN
SAIRGKIGLPHSIKLSRRRSRSKSPFRKDKSPVREPIDNLTPEERDARTVFCMQLAARIRPRDLEEFFSTVGKVRDVRMISDRNSRRSKGIAYVEFVDVSSVPLA
IGLTGQRVLGVPIIVQASQAEKNRAAAMANNLQKGSAGPMRLYVGSLHFNITEDMLRGIFEPFGRIESIQLMMDSETGRSKGYGFITFSDSECAKKALEQLNGFE
LAGRPMKVGHVTERTDASSASSFLDSDELERTGIDLGTTGRLQLMARLAEGTGLQIPPAAQQALQMSGSLAFGAVADLQTRLSQQTEASALAAAASVQPLATQCF
QLSNMFNPQTEEEVGWDTEIKDDVIEECNKHGGVIHIYVDKNSAQGNVYVKCPSIAAAIAAVNALHGRWFAGKMITAAYVPLPTYHNLFPDSMTATQLLVPSRR
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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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top