AutismKB

Evidence Detail for HMG20B


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Basic Information Top
Gene Symbol:HMG20B ( BRAF25,BRAF35,FLJ26127,HMGX2,HMGXB2,PP7706,SMARCE1r,SOXL,pp8857 )
Gene Full Name: high-mobility group 20B
Band: 19p13.3
Quick LinksEntrez ID:10362; OMIM: 605535; Uniprot ID:HM20B_HUMAN; ENSEMBL ID: ENSG00000064961
Sequences Top
>HMG20B|10362|nucleotide
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>HMG20B|10362|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 1 (2) 1 (1) 0 (0) 0 (0) 4 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.21713 Up 0.000297144
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 210719_s_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000645 19 19p13.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0004899 19 19p13.3 Gain 3 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000068 19p13.3 19 D19S209 - - 0.003 Schellenberg, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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