Evidence Details for URB1
Basic Information Top
Gene Symbol: | URB1 ( C21orf108,KIAA0539,NPA1 ) |
---|---|
Gene Full Name: | URB1 ribosome biogenesis 1 homolog (S. cerevisiae) |
Band: | 21q22.11 |
Quick Links | Entrez 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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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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MGVPKRKASGGQDGAASSAGAAKRARKEELTGVRFKAQLKDPQGPGPGLEAFVSAAKKLPREDVYDVVEGYIKISVECVEIFQLLSGEKRPESETMLIFQVFEAI
LLRTASDLSHFHVVGTNIVKKLMNNHMKLICESLYASGYRLARACLSLMTAMVTQGPEAARDVCSHFDLNKKTLYTLVTKRDSKGVYDVRQAYVQFALSFLIAGD
DSTIVQVLEVKEFIPCIFSSGIKEDRISTINILLSTLKTKVVHNKNITKTQKVRFFTGQLLNHIASLYNWNGITDVNPENVKVSAEEAGKTMVRELVHNFLMDLC
CSLKHGINFYDASLGTFGRGGNLTLLHFLLGLKTAADDDLVADLVVNILKVCPDLLNKYFKEVTFSFIPRAKSTWLNNIKLLNKIYEAQPEISRAFQTREFIPLP
RLLAMVMVTTVPLVCNKSMFTQALNLDSTSVRHTALSLISVILKRALKTVDHCLNKEVWQESGVYTAVMMEEFVQLFREALSKILPDLNTVVWVWQSLKKQETKQ
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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