AutismKB

Evidence Detail for TAS2R3


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Basic Information Top
Gene Symbol:TAS2R3 ( T2R3 )
Gene Full Name: taste receptor, type 2, member 3
Band: 7q31.3-q32
Quick LinksEntrez ID:50831; OMIM: 604868; Uniprot ID:TA2R3_HUMAN; ENSEMBL ID: ENSG00000127362
Sequences Top
>TAS2R3|50831|nucleotide
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>TAS2R3|50831|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 1 (1) 0 (1) 2 (3) 15 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Tentler, 2001_1 PARIS 2 (detail) 29
(-)
ASD -
-
- 29
(-)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Tentler, 2001_1 human bloodAD case report
  • Subjects: 1 9-year female
  • Normal Controls: -
  • Methods: FISH, Southern blot
  • Evidence Details: We report a girl with AD and a balanced reciprocal translocation t(5;7)(q14;q32). The mother carries the translocation but do not express the disease.
Tentler, 2001_2 human bloodASD genetics: mutation screen
  • Subjects: 29
  • Normal Controls: -
  • Methods: sequence
  • Evidence Details: We found no sequence variations, which predict amino acid alterations.
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
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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