AutismKB 2.0

Evidence Details for URB1


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Basic Information Top
Gene Symbol:URB1 ( C21orf108,KIAA0539,NPA1 )
Gene Full Name: URB1 ribosome biogenesis 1 homolog (S. cerevisiae)
Band: 21q22.11
Quick LinksEntrez ID:9875; OMIM: 608865; Uniprot ID:NPA1P_HUMAN; ENSEMBL ID: ENSG00000142207; HGNC ID: 17344
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>URB1|9875|nucleotide
ATGGGGGTCCCCAAGAGGAAGGCCTCGGGCGGCCAGGACGGCGCGGCTTCCTCCGCGGGTGCAGCCAAGCGCGCCCGCAAAGAAGAGCTCACGGGCGTGCGGTTC
AAGGCTCAGCTGAAGGACCCGCAGGGCCCCGGGCCAGGCTTGGAAGCGTTTGTGTCTGCTGCCAAGAAGCTACCACGAGAAGATGTGTATGATGTTGTGGAAGGG
TATATAAAGATTTCTGTTGAGTGTGTCGAAATTTTCCAGCTCCTAAGTGGAGAGAAACGACCTGAAAGTGAAACGATGTTAATATTTCAAGTTTTCGAGGCCATA
TTATTGCGGACAGCAAGTGATCTTTCACATTTCCATGTTGTGGGAACCAACATTGTGAAAAAGCTGATGAACAACCACATGAAGCTCATCTGTGAGTCCCTGTAT
GCCTCAGGTTACAGGTTGGCTCGCGCCTGCCTGAGCCTGATGACCGCCATGGTGACCCAGGGTCCGGAAGCTGCCAGGGACGTCTGCAGCCATTTTGATTTGAAT
AAAAAGACCCTGTACACCCTGGTGACCAAGAGGGATTCAAAGGGAGTGTACGACGTTCGGCAGGCCTACGTTCAGTTTGCTCTCTCCTTTTTAATTGCGGGTGAT
GACAGCACTATAGTGCAGGTGTTGGAAGTGAAAGAATTTATTCCTTGCATTTTTAGCTCAGGGATAAAGGAAGATAGGATCTCTACCATCAATATTTTATTATCC
ACACTGAAAACAAAGGTAGTTCACAATAAAAATATCACAAAAACCCAGAAGGTGCGTTTCTTTACGGGGCAGTTATTGAACCACATAGCATCGCTGTACAACTGG
AATGGGATTACCGATGTGAACCCAGAAAATGTCAAGGTTTCTGCCGAAGAAGCAGGGAAAACCATGGTGCGGGAGCTTGTTCATAACTTCCTGATGGATCTTTGC
TGTTCACTCAAGCATGGAATTAATTTTTACGATGCATCTTTGGGTACCTTTGGCAGAGGCGGAAACCTGACACTCTTGCACTTCTTGCTGGGTTTGAAAACTGCA
GCTGATGATGATCTGGTGGCTGACCTTGTGGTAAACATCCTCAAAGTGTGCCCGGACTTACTGAACAAATACTTCAAGGAAGTAACGTTTTCCTTTATCCCACGA
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>URB1|9875|protein
MGVPKRKASGGQDGAASSAGAAKRARKEELTGVRFKAQLKDPQGPGPGLEAFVSAAKKLPREDVYDVVEGYIKISVECVEIFQLLSGEKRPESETMLIFQVFEAI
LLRTASDLSHFHVVGTNIVKKLMNNHMKLICESLYASGYRLARACLSLMTAMVTQGPEAARDVCSHFDLNKKTLYTLVTKRDSKGVYDVRQAYVQFALSFLIAGD
DSTIVQVLEVKEFIPCIFSSGIKEDRISTINILLSTLKTKVVHNKNITKTQKVRFFTGQLLNHIASLYNWNGITDVNPENVKVSAEEAGKTMVRELVHNFLMDLC
CSLKHGINFYDASLGTFGRGGNLTLLHFLLGLKTAADDDLVADLVVNILKVCPDLLNKYFKEVTFSFIPRAKSTWLNNIKLLNKIYEAQPEISRAFQTREFIPLP
RLLAMVMVTTVPLVCNKSMFTQALNLDSTSVRHTALSLISVILKRALKTVDHCLNKEVWQESGVYTAVMMEEFVQLFREALSKILPDLNTVVWVWQSLKKQETKQ
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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 (1) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top