Evidence Detail for TSC2

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Basic Information Top

Gene Symbol:	TSC2 ( FLJ43106,LAM,TSC4 )
Gene Full Name:	tuberous sclerosis 2
Band:	16p13.3
Quick Links	Entrez ID:7249; OMIM: 191092; Uniprot ID:TSC2_HUMAN; ENSEMBL ID: ENSG00000103197

Sequences Top

nucleotide Sequence
Protein Sequence

>TSC2|7249|nucleotide
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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)	Yes	0 (0)	0 (0)	1 (1)	1 (2)	1 (2)	2 (2)	20 (6)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AD
OMIM	Tuberous sclerosis-2 (191100)
Description	Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes (see TSC1 above, 9q34.13)
Reference(s)	9394941; 8132114; 14985384; 17936687; 16901420;
Level	Level 4: The disorder is a generally acknowledged ASD related disorder.

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 2

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Barnby, 2005_1	IMGSAC	1 (detail)	239	- (-)			ASD	- -	- -
MIXED/OTHERS
Serajee, 2003_1	AGRE	2 (detail)	196	196 (22.96%)			AD	7 -	- -

Case Control Based Association Studies: 0

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	Diagnosis	Evidence Level
O'Roak, 2012_1	human	blood	ASD	Mutation screen
Subjects: 209 simplex pedigrees Normal Controls: - Methods: direct sequencing Evidence Details: De novo functional mutation was found in this gene locus
Kelleher lii, 2012_1	human	blood	ASD	Mutation screen
Subjects: 290 Normal Controls: 300 Methods: direct sequencing Evidence Details: 14 functional rare mutation was found in ASD case, 5 in control

Large Scale Expression Studies Top

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0004952	16	16p13.3	Gain	2	0	Overlapping/Recurrent CNVs; CNVs Not Present In Control;	Bucan, 2009

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
AutLD0000091	16p13	16	D16S2619	-	2.17	-	Buxbaum, 2004
AutLD0000138	16p13.3	16	D16S748	-	-	0.00117	Lauritsen, 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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