AutismKB 2.0

Evidence Details for OLA1


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Basic Information Top
Gene Symbol:OLA1 ( DKFZp313H1942,DOC45,GBP45,GTPBP9 )
Gene Full Name: Obg-like ATPase 1
Band: 2q31.1
Quick LinksEntrez ID:29789; OMIM: 611175; Uniprot ID:OLA1_HUMAN; ENSEMBL ID: ENSG00000138430; HGNC ID: 28833
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OLA1|29789|nucleotide
ATGATTGGGCCCATTATAGATAAACTAGAAAAGGTGGCTGTGAGAGGAGGAGATAAAAAACTAAAACCTGAATATGATATAATGTGCAAAGTAAAATCCTGGGTT
ATAGATCAAAAGAAACCTGTTCGCTTCTATCATGATTGGAATGACAAAGAGATTGAAGTGTTGAATAAACACTTATTTTTGACTTCAAAACCAATGGTCTACTTG
GTTAATCTTTCTGAAAAAGACTACATTAGAAAGAAAAACAAATGGTTGATAAAAATTAAAGAGTGGGTGGACAAGTATGACCCAGGTGCTTTGGTCATTCCTTTT
AGTGGGGCCTTGGAACTCAAGTTGCAAGAATTGAGTGCTGAGGAGAGACAGAAGTATCTGGAAGCGAACATGACACAAAGTGCTTTGCCAAAGATCATTAAGGCT
GGGTTTGCAGCACTCCAACTAGAATACTTTTTCACTGCAGGCCCAGATGAAGTGCGTGCATGGACCATCAGGAAAGGGACTAAGGCTCCTCAGGCTGCAGGAAAG
ATTCACACAGATTTTGAAAAGGGATTCATTATGGCTGAAGTAATGAAATACGAAGATTTTAAAGAGGAAGGTTCTGAAAATGCAGTCAAGGCTGCTGGAAAGTAC
AGACAACAAGGCAGAAATTATATTGTTGAAGATGGAGATATTATCTTCTTCAAATTTAACACACCTCAACAACCGAAGAAGAAATAA




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>OLA1|29789|protein
MIGPIIDKLEKVAVRGGDKKLKPEYDIMCKVKSWVIDQKKPVRFYHDWNDKEIEVLNKHLFLTSKPMVYLVNLSEKDYIRKKNKWLIKIKEWVDKYDPGALVIPF
SGALELKLQELSAEERQKYLEANMTQSALPKIIKAGFAALQLEYFFTAGPDEVRAWTIRKGTKAPQAAGKIHTDFEKGFIMAEVMKYEDFKEEGSENAVKAAGKY
RQQGRNYIVEDGDIIFFKFNTPQQPKKK


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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) 2 (4) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 6 (6)
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
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.692655 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1659820
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.77836 Down 0.0923441
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1659820
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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