AutismKB 2.0

Evidence Details for RBM47


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Basic Information Top
Gene Symbol:RBM47 ( DKFZp686F02235,FLJ20273,FLJ21344,FLJ21643,NET18 )
Gene Full Name: RNA binding motif protein 47
Band: 4p14
Quick LinksEntrez ID:54502; OMIM: NA; Uniprot ID:RBM47_HUMAN; ENSEMBL ID: ENSG00000163694; HGNC ID: 30358
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBM47|54502|nucleotide
ATGACCGCAGAGGATTCCACCGCAGCCATGAGCAGTGACTCGGCCGCCGGGTCCTCCGCCAAGGTGCCCGAGGGCGTGGCGGGCGCGCCCAACGAGGCAGCACTG
CTGGCGCTGATGGAGCGCACGGGCTACAGCATGGTGCAAGAGAACGGGCAGCGCAAGTACGGCGGCCCACCGCCCGGCTGGGAGGGCCCGCACCCGCAGCGTGGC
TGCGAGGTCTTCGTGGGCAAGATCCCGCGCGACGTGTACGAGGACGAGCTGGTGCCCGTGTTCGAGGCCGTGGGCCGCATCTACGAGCTGCGCCTCATGATGGAC
TTTGACGGCAAGAACCGCGGCTACGCCTTCGTCATGTACTGCCACAAGCACGAGGCCAAGCGCGCAGTGCGTGAGCTCAACAACTACGAGATCCGCCCGGGCCGC
CTGCTCGGCGTGTGCTGCAGCGTGGACAACTGCCGCCTCTTCATCGGCGGGATCCCCAAGATGAAGAAGCGCGAGGAAATCCTGGAGGAGATTGCCAAGGTCACC
GAGGGCGTGCTGGACGTGATCGTCTACGCCAGCGCGGCCGACAAGATGAAGAACCGCGGCTTCGCCTTCGTGGAGTACGAGAGCCACCGCGCGGCTGCCATGGCT
CGCCGCAAGCTCATGCCTGGCCGCATCCAGCTGTGGGGCCACCAGATCGCCGTGGACTGGGCCGAACCTGAGATCGACGTGGACGAGGACGTGATGGAGACCGTG
AAGATCCTCTACGTGCGCAACCTCATGATCGAGACCACCGAGGACACCATCAAGAAGAGCTTCGGCCAGTTCAACCCCGGCTGCGTGGAGCGCGTCAAGAAGATC
CGCGACTACGCCTTCGTGCACTTCACCAGCCGCGAGGATGCCGTGCATGCCATGAACAACCTCAACGGCACTGAGCTGGAGGGCTCGTGCCTGGAGGTCACGCTG
GCCAAGCCCGTGGACAAGGAGCAGTACTCGCGCTACCAGAAGGCAGCCAGGGGCGGCGGCGCGGCTGAGGCAGCGCAGCAGCCCAGCTACGTGTACTCCTGCGAC
CCCTACACACTGGCCTACTACGGCTACCCCTACAACGCGCTCATTGGGCCCAACAGGGACTACTTTGTGAAAGCAGGCAGCATAAGAGGCCGAGGGCGAGGTGCA
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>RBM47|54502|protein
MTAEDSTAAMSSDSAAGSSAKVPEGVAGAPNEAALLALMERTGYSMVQENGQRKYGGPPPGWEGPHPQRGCEVFVGKIPRDVYEDELVPVFEAVGRIYELRLMMD
FDGKNRGYAFVMYCHKHEAKRAVRELNNYEIRPGRLLGVCCSVDNCRLFIGGIPKMKKREEILEEIAKVTEGVLDVIVYASAADKMKNRGFAFVEYESHRAAAMA
RRKLMPGRIQLWGHQIAVDWAEPEIDVDEDVMETVKILYVRNLMIETTEDTIKKSFGQFNPGCVERVKKIRDYAFVHFTSREDAVHAMNNLNGTELEGSCLEVTL
AKPVDKEQYSRYQKAARGGGAAEAAQQPSYVYSCDPYTLAYYGYPYNALIGPNRDYFVKAGSIRGRGRGAAGNRAPGPRGSYLGGYSAGRGIYSRYHEGKGKQQE
KGYELVPNLEIPTVNPVAIKPGTVAIPAIGAQYSMFPAAPAPKMIEDGKIHTVEHMISPIAVQPDPASAAAAAAAAAAAAAAVIPTVSTPPPFQGRPITPVYTVA
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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 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top