AutismKB

Evidence Detail for EPHB6


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Basic Information Top
Gene Symbol:EPHB6 ( HEP,MGC129910,MGC129911 )
Gene Full Name: EPH receptor B6
Band: 7q33-q35
Quick LinksEntrez ID:2051; OMIM: 602757; Uniprot ID:EPHB6_HUMAN; ENSEMBL ID: ENSG00000106123
Sequences Top
>EPHB6|2051|nucleotide
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>EPHB6|2051|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) 0 (0) 1 (1) 0 (0) 1 (1) 9 (3)
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
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
O'Roak, 2011_1 human whole-bloodautism genetics: mutation screen
  • Subjects: 19 SSCs and 1 SAGE
  • Normal Controls: 20
  • Methods: whole genome exome sequencing by Illumina Genome Analyzer Iix with single or paired-end 76-bp reads
  • Evidence Details: De novo synonymous mutaion event was found in hg18 Chr7:142,274,902
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.763807 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1802646
  • 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 Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000020 7q34 7 D7S684 2.26 - - Bailey, 1998

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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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