AutismKB 2.0

Evidence Details for NUB1


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Basic Information Top
Gene Symbol:NUB1 ( BS4,NUB1L,NYREN18 )
Gene Full Name: negative regulator of ubiquitin-like proteins 1
Band: 7q36.1
Quick LinksEntrez ID:51667; OMIM: 607981; Uniprot ID:NUB1_HUMAN; ENSEMBL ID: ENSG00000013374; HGNC ID: 17623
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUB1|51667|nucleotide
ATGGCACAAAAGAAATATCTTCAAGCAAAATTGACCCAGTTTTTAAGGGAAGACAGGATTCAACTTTGGAAACCTCCATATACAGATGAAAATAAAAAAGTTGGT
TTGGCATTAAAGGACCTTGCTAAGCAGTACTCTGACAGACTAGAATGCTGTGAAAATGAAGTAGAAAAGGTAATAGAAGAAATACGTTGCAAGGCAATTGAGCGT
GGAACAGGAAATGACAATTATAGAACAACGGGAATTGCTACAATCGAGGTGTTTTTACCACCAAGACTAAAAAAAGATAGGAAAAACTTGTTGGAGACCCGATTG
CACATCACTGGCAGAGAACTGAGGTCCAAAATAGCTGAAACCTTTGGACTTCAAGAAAATTATATCAAAATTGTCATAAATAAGAAGCAACTACAACTAGGGAAA
ACCCTTGAAGAACAAGGCGTGGCTCACAATGTGAAAGCGATGGTGCTTGAACTAAAACAATCTGAAGAGGACGCGAGGAAAAACTTCCAGTTAGAGGAAGAGGAG
CAAAATGAGGCCAAACTCAAAGAAAAACAAATTCAGAGGACCAAGAGAGGACTAGAAATACTGGCAAAGAGAGCAGCAGAGACAGTGGTGGATCCAGAAATGACA
CCGTACTTAGACATAGCTAACCAGACAGGCAGATCAATCAGAATTCCCCCATCAGAAAGAAAAGCCCTTATGTTAGCTATGGGATATCATGAGAAGGGCAGAGCT
TTCCTGAAAAGAAAAGAATATGGAATAGCCTTGCCATGTCTGTTGGACGCTGACAAATATTTCTGTGAGTGTTGCAGAGAGCTGCTGGACACAGTGGATAACTAC
GCCGTCCTCCAGCTGGATATAGTGTGGTGTTACTTCCGCCTGGAACAGCTGGAATGCCTTGATGATGCAGAAAAAAAATTAAACTTGGCCCAGAAATGCTTTAAA
AATTGTTACGGAGAAAATCATCAGAGACTGGTCCACATAAAAGGAAATTGTGGGAAAGAGAAGGTACTGTTTCTAAGACTCTACTTACTTCAAGGGATCCGAAAC
TATCACAGTGGAAATGATGTAGAGGCTTATGAGTATCTTAACAAGGCACGTCAGCTCTTTAAAGAGCTATATATTGATCCATCAAAAGTGGACAATTTGTTGCAG
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>NUB1|51667|protein
MAQKKYLQAKLTQFLREDRIQLWKPPYTDENKKVGLALKDLAKQYSDRLECCENEVEKVIEEIRCKAIERGTGNDNYRTTGIATIEVFLPPRLKKDRKNLLETRL
HITGRELRSKIAETFGLQENYIKIVINKKQLQLGKTLEEQGVAHNVKAMVLELKQSEEDARKNFQLEEEEQNEAKLKEKQIQRTKRGLEILAKRAAETVVDPEMT
PYLDIANQTGRSIRIPPSERKALMLAMGYHEKGRAFLKRKEYGIALPCLLDADKYFCECCRELLDTVDNYAVLQLDIVWCYFRLEQLECLDDAEKKLNLAQKCFK
NCYGENHQRLVHIKGNCGKEKVLFLRLYLLQGIRNYHSGNDVEAYEYLNKARQLFKELYIDPSKVDNLLQLGFTAQEARLGLRACDGNVDHAATHITNRREELAQ
IRKEEKEKKRRRLENIRFLKGMGYSTHAAQQILLSNPQMWWLNDSNPETDNRQESPSQENIDRLVYMGFDALVAEAALRVFRGNVQLAAQTLAHNGGSLPPELPL
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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 (2) 0 (0) 0 (0) 0 (0) 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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Molloy, 2005 USA microsatellite-based genomic screenASD 34 - 34 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018