AutismKB 2.0

Evidence Details for IQUB


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Basic Information Top
Gene Symbol:IQUB ( FLJ35834,MGC149284,MGC149285 )
Gene Full Name: IQ motif and ubiquitin domain containing
Band: 7q31.32
Quick LinksEntrez ID:154865; OMIM: NA; Uniprot ID:IQUB_HUMAN; ENSEMBL ID: ENSG00000164675; HGNC ID: 21995
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IQUB|154865|nucleotide
ATGTCTAATCAACAGGAGAAGTATGAAGCTCAGAATATAGTCAATTCAACAGAAGAGAGTGATGATGCTTTTGATACTGTCACTATTCCAGTTCCCTCAGAAGAG
CCTCAAGAGTCAGATCAAACTGAAGAGCATGAATCTGGAATAGAACAATTCAGTGAGAGCCATGCAATACATGTTGAGGAGCAGAGTGACCAAAGCTTTTCAAGC
CTGGAACCAGACAATGAACAACTCATGGAAGAGGTTATATCACCAAGACAAGTTTCATATACTCCGCAACATCATGAAAAGCAATATGCAATGCAGAGGCCAAAT
GATGATAGTTTGGCATTTCTGGATAAAATAAAGTCTGTAAAGGAATCTTTGCAAGAATCAGTGGAAGATTCTCTAGCAACAGTAAAAGTTGTACTTATTCCAGTG
GGCCAGGAAATTGTAATACCTTTTAAGGTTGATACCATTCTTAAATATCTTAAGGACCATTTTTCACACTTATTAGGTATCCCACATTCTGTACTGCAGATAAGA
TACTCAGGAAAAATTCTTAAAAATAATGAGACTCTAGTACAACATGGAGTTAAGCCACAGGAAATTGTACAAGTGGAAATCTTTTCTACAAATCCAGATCTGTAT
CCAGTCAGAAGAATAGATGGATTAACTGATGTCTCTCAAATCATAACTGTCACTGTCCAAACTGGACTTGATCAATACCAGCAGGTACCTGTTGAGATTGTCAAA
TCTGACTTTCACAAACCATTTCTTGGTGGATTCAGACATAAAGTAACAGGAGTAGAGTATCACAATGCTGGAACACAAACTGTACCTAAAAGGATTCCCGAAAGA
CTCAGTATATTTTGTAGGGATACGCAGACAGTTTTTCAGAAAAAAAATCTCCAACAAACTACAAATACAACATCCACACAGATGACTAACATTGGTGTATATGTA
TCAAATATGACTGATAAACTGGTAACACCAGGAAAGTATTTTTCAGCAGCAGAATACCATGCTCAAAGACTAAAGGCGGTGATAGTGATACAGACTTACTACAGG
CAATGGCATGCTAAAATCTTCGTAGAGAATTTAAGAAGACAGAAAAGCTTAAGACTGGAATGGGAAACACAGCAAGAACTAAGGAAGATAAGAGAAAAAGAAGAA
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>IQUB|154865|protein
MSNQQEKYEAQNIVNSTEESDDAFDTVTIPVPSEEPQESDQTEEHESGIEQFSESHAIHVEEQSDQSFSSLEPDNEQLMEEVISPRQVSYTPQHHEKQYAMQRPN
DDSLAFLDKIKSVKESLQESVEDSLATVKVVLIPVGQEIVIPFKVDTILKYLKDHFSHLLGIPHSVLQIRYSGKILKNNETLVQHGVKPQEIVQVEIFSTNPDLY
PVRRIDGLTDVSQIITVTVQTGLDQYQQVPVEIVKSDFHKPFLGGFRHKVTGVEYHNAGTQTVPKRIPERLSIFCRDTQTVFQKKNLQQTTNTTSTQMTNIGVYV
SNMTDKLVTPGKYFSAAEYHAQRLKAVIVIQTYYRQWHAKIFVENLRRQKSLRLEWETQQELRKIREKEEWIKLDYHRRHNPKTNEDFEFLYNALEFWRQEELTR
INQSFTGAERKAALCELLEKETQIIASIGRHRYIAYMANQEAAIQAFLDKCSAPKIWRTPNGKTIEMDTQFTIRARELQNIYKCIMLKNISQDERLDVLLTLKHT
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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 (4) 1 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 22 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Okamoto, 2011 Japan -ASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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