AutismKB 2.0

Evidence Details for RBPJL


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Basic Information Top
Gene Symbol:RBPJL ( RBP-L,RBPSUHL,SUH,SUHL )
Gene Full Name: recombination signal binding protein for immunoglobulin kappa J region-like
Band: 20q13.12
Quick LinksEntrez ID:11317; OMIM: NA; Uniprot ID:RBPJL_HUMAN; ENSEMBL ID: ENSG00000124232; HGNC ID: 13761
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBPJL|11317|nucleotide
ATGGACCCCGCAGGGGCAGCAGACCCCTCAGTGCCTCCCAATCCTTTGACTCACCTGAGCCTGCAGGACAGATCAGAGATGCAGCTGCAGAGCGAAGCCGACAGG
CGGAGCCTCCCGGGCACTTGGACCAGGTCATCCCCAGAGCACACCACCATTCTGAGGGGAGGCGTGCGCAGGTGCCTGCAGCAACAGTGTGAACAGACTGTGCGG
ATCCTGCATGCCAAGGTGGCCCAGAAATCATACGGAAATGAGAAGCGGTTCTTCTGCCCCCCGCCCTGTGTCTACCTCTCGGGGCCTGGCTGGAGGGTGAAGCCA
GGGCAGGATCAAGCTCACCAGGCGGGGGAAACGGGGCCCACGGTCTGCGGTTACATGGGACTGGACAGCGCGTCCGGCAGCGCCACTGAGACGCAGAAGCTGAAT
TTCGAGCAGCAGCCGGACTCCAGGGAATTCGGCTGCGCCAAGACCCTGTACATCTCAGATGCAGACAAGAGGAAGCACTTTCGGCTGGTGCTGCGGCTGGTGCTG
CGCGGGGGCCGGGAGCTGGGTACCTTCCACAGCCGCCTTATCAAGGTCATCTCGAAGCCCTCGCAGAAGAAGCAGTCGCTGAAAAACACCGATCTGTGCATATCC
TCCGGCTCAAAGGTCTCCCTCTTCAACCGCCTGCGCTCTCAGACGGTCTCCACACGCTACCTCTCTGTGGAGGATGGGGCCTTTGTGGCCAGTGCACGACAGTGG
GCTGCCTTCACGCTCCACCTGGCTGATGGGCACTCTGCCCAAGGAGACTTCCCACCGCGAGAGGGCTACGTTCGCTATGGCTCCCTGGTGCAGCTCGTCTGCACG
GTCACCGGCATCACACTACCTCCCATGATCATCCGTAAAGTAGCAAAACAGTGTGCGCTCCTTGATGTGGATGAGCCCATCTCCCAGCTGCACAAGTGTGCATTC
CAGTTTCCAGGCAGTCCCCCAGGAGGGGGTGGCACCTACTTATGCCTTGCCACAGAGAAGGTGGTGCAATTTCAGGCCTCTCCCTGCCCCAAGGAGGCGAACAGG
GCTCTGCTTAACGACAGCTCTTGCTGGACCATCATCGGCACCGAGTCGGTGGAATTTTCCTTCAGCACCAGCCTGGCGTGTACCCTGGAGCCGGTCACTCCGGTG
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>RBPJL|11317|protein
MDPAGAADPSVPPNPLTHLSLQDRSEMQLQSEADRRSLPGTWTRSSPEHTTILRGGVRRCLQQQCEQTVRILHAKVAQKSYGNEKRFFCPPPCVYLSGPGWRVKP
GQDQAHQAGETGPTVCGYMGLDSASGSATETQKLNFEQQPDSREFGCAKTLYISDADKRKHFRLVLRLVLRGGRELGTFHSRLIKVISKPSQKKQSLKNTDLCIS
SGSKVSLFNRLRSQTVSTRYLSVEDGAFVASARQWAAFTLHLADGHSAQGDFPPREGYVRYGSLVQLVCTVTGITLPPMIIRKVAKQCALLDVDEPISQLHKCAF
QFPGSPPGGGGTYLCLATEKVVQFQASPCPKEANRALLNDSSCWTIIGTESVEFSFSTSLACTLEPVTPVPLISTLELSGGGDVATLELHGENFHAGLKVWFGDV
EAETMYRSPRSLVCVVPDVAAFCSDWRWLRAPITIPMSLVRADGLFYPSAFSFTYTPEYSVRPGHPGVPEPATDADALLESIHQEFTRTNFHLFIQT
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top