AutismKB

Evidence Detail for HTR4


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Basic Information Top
Gene Symbol:HTR4 ( 5-HT4,5-HT4R )
Gene Full Name: 5-hydroxytryptamine (serotonin) receptor 4
Band: 5q31-q33
Quick LinksEntrez ID:3360; OMIM: 602164; Uniprot ID:5HT4R_HUMAN; ENSEMBL ID: ENSG00000164270
Sequences Top
>HTR4|3360|nucleotide
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>HTR4|3360|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) 0 (0) 1 (3) 1 (1) 11 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 3
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Hu, 2011_3 USA 1 (detail) 363
(-)
ASD -
-
- 2438
(-)
-
-
Hu, 2011_1 USA 2 (detail) 639
(-)
ASD -
-
- 2438
(-)
-
-
Hu, 2011_4 USA 1 (detail) 387
(-)
ASD -
-
- 2438
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Vincent, 2008_1 human ---AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: -
  • Evidence Details: We have recently reported the identification of a de novo balanced translocation t(5;18)(q33.1;q12.1) in a boy with autism. The chromosome 5 breakpoint lies at the 3' end of the SH3TC2 gene and distal to beta-adrenergic receptor gene ADRB2 and serotonin receptor gene HTR4.
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%)
0.941415 Down 38.8588
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1808258
  • 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

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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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