AutismKB


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Evidence Detail for HTR2A


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Basic Information Top
Gene Symbol:HTR2A ( 5-HT2A,HTR2 )
Gene Full Name: 5-hydroxytryptamine (serotonin) receptor 2A
Band: 13q14-q21
Quick LinksEntrez ID:3356; OMIM: 182135; Uniprot ID:5HT2A_HUMAN; ENSEMBL ID: ENSG00000102468
Sequences Top
>HTR2A|3356|nucleotide
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>HTR2A|3356|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) 0 (0) 1 (1) 0 (0) 0 (7) 1 (2) 9 (11)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 5
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Herault, 1996_1 USA 1 (detail) 65
(38.46%)
AD 7
(2-19)
- 105
(-)
8
-
ASIAN
Guhathakurta, 2009_1 India 3 (detail) 120
(16.67%)
ASD 5.84±2.96
-
- 101
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Guhathakurta, 2009_1 human peripheral blood leukocytes--- RNA regulation: methylation
  • Subjects: 9
  • Normal Controls: -
  • Methods: Methylation sensitive restriction-polymerase chain reaction (MSR-PCR), Bioinformatic analysis to identify the CpG islands in the promoter region by CpGPlot program of EMBL-EBI sequence analysis tools
  • Evidence Details: The results of methylation specific restriction-PCR suggest that both rs6311 and rs6313 sites are subjected to methylation. The methylation at CpG might block the transcription. However results of the gene expression analysis did not show the differential expression pattern.The absence of CpG islands suggests that the transcriptional regulation by methylation may not operate in this gene. The methylation of a few CpG sites in the absence of CpG islands probably does not alter the transcription.
Kazek, 2010_1 human blood--ASD RNA expression
  • Subjects: 51 (12 females, 39 males)
  • Normal Controls: 28 (8 females, 20 males)
  • Methods: RT-PCR
  • Evidence Details: Statistically significant differences between the study and control groups were proven in gastrointestinal problems. The analyses reveal a significantly higher level of 5-HT2Ar mRNA in platelets of the study group patients, which could suggest serotonin system dysregulation
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000266 13 13q14-22 loss 1 - CNVs Only Present In Patients; Steele, 2001
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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