AutismKB 2.0

Evidence Details for RNF43


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Basic Information Top
Gene Symbol:RNF43 ( DKFZp781H02126,DKFZp781H0392,FLJ20315,FLJ77466,FLJ99338,MGC125630,RNF124,URCC )
Gene Full Name: ring finger protein 43
Band: 17q23.2
Quick LinksEntrez ID:54894; OMIM: 612482; Uniprot ID:RNF43_HUMAN; ENSEMBL ID: ENSG00000108375; HGNC ID: 18505
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RNF43|54894|nucleotide
ATGAGTGGTGGCCACCAGCTGCAGCTGGCTGCCCTCTGGCCCTGGCTGCTGATGGCTACCCTGCAGGCAGGCTTTGGACGCACAGGACTGGTACTGGCAGCAGCG
GTGGAGTCTGAAAGATCAGCAGAACAGAAAGCTATTATCAGAGTGATCCCCTTGAAAATGGACCCCACAGGAAAACTGAATCTCACTTTGGAAGGTGTGTTTGCT
GGTGTTGCTGAAATAACTCCAGCAGAAGGAAAATTAATGCAGTCCCACCCGCTGTACCTGTGCAATGCCAGTGATGACGACAATCTGGAGCCTGGATTCATCAGC
ATCGTCAAGCTGGAGAGTCCTCGACGGGCCCCCCGCCCCTGCCTGTCACTGGCTAGCAAGGCTCGGATGGCGGGTGAGCGAGGAGCCAGTGCTGTCCTCTTTGAC
ATCACTGAGGATCGAGCTGCTGCTGAGCAGCTGCAGCAGCCGCTGGGGCTGACCTGGCCAGTGGTGTTGATCTGGGGTAATGACGCTGAGAAGCTGATGGAGTTT
GTGTACAAGAACCAAAAGGCCCATGTGAGGATTGAGCTGAAGGAGCCCCCGGCCTGGCCAGATTATGATGTGTGGATCCTAATGACAGTGGTGGGCACCATCTTT
GTGATCATCCTGGCTTCGGTGCTGCGCATCCGGTGCCGCCCCCGCCACAGCAGGCCGGATCCGCTTCAGCAGAGAACAGCCTGGGCCATCAGCCAGCTGGCCACC
AGGAGGTACCAGGCCAGCTGCAGGCAGGCCCGGGGTGAGTGGCCAGACTCAGGGAGCAGCTGCAGCTCAGCCCCTGTGTGTGCCATCTGTCTGGAGGAGTTCTCT
GAGGGGCAGGAGCTACGGGTCATTTCCTGCCTCCATGAGTTCCATCGTAACTGTGTGGACCCCTGGTTACATCAGCATCGGACTTGCCCCCTCTGCATGTTCAAC
ATCACAGAGGGAGATTCATTTTCCCAGTCCCTGGGACCCTCTCGATCTTACCAAGAACCAGGTCGAAGACTCCACCTCATTCGCCAGCATCCCGGCCATGCCCAC
TACCACCTCCCTGCTGCCTACCTGTTGGGCCCTTCCCGGAGTGCAGTGGCTCGGCCCCCACGACCTGGTCCCTTCCTGCCATCCCAGGAGCCAGGCATGGGCCCT
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>RNF43|54894|protein
MSGGHQLQLAALWPWLLMATLQAGFGRTGLVLAAAVESERSAEQKAIIRVIPLKMDPTGKLNLTLEGVFAGVAEITPAEGKLMQSHPLYLCNASDDDNLEPGFIS
IVKLESPRRAPRPCLSLASKARMAGERGASAVLFDITEDRAAAEQLQQPLGLTWPVVLIWGNDAEKLMEFVYKNQKAHVRIELKEPPAWPDYDVWILMTVVGTIF
VIILASVLRIRCRPRHSRPDPLQQRTAWAISQLATRRYQASCRQARGEWPDSGSSCSSAPVCAICLEEFSEGQELRVISCLHEFHRNCVDPWLHQHRTCPLCMFN
ITEGDSFSQSLGPSRSYQEPGRRLHLIRQHPGHAHYHLPAAYLLGPSRSAVARPPRPGPFLPSQEPGMGPRHHRFPRAAHPRAPGEQQRLAGAQHPYAQGWGLSH
LQSTSQHPAACPVPLRRARPPDSSGSGESYCTERSGYLADGPASDSSSGPCHGSSSDSVVNCTDISLQGVHGSSSTFCSSLSSDFDPLVYCSPKGDPQRVDMQPS
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top