Evidence Details for TSC1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name:	tuberous sclerosis 1
Band:	9q34
Quick Links	Entrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>TSC1|7248|nucleotide
ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACCTCAATTCT
GACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAG
CACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCAT
AAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTA
CCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTC
TATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAA
GAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGA
AGGTGGAAGAGATTAGAAACTCATGATGTTGTGATCGAGTGTGCCAAAATCTCTCTGGATCCCACAGAAGCCTCATATGAAGATGGCTATTCTGTGTCTCACCAA
ATCTCAGCCCGCTTTCCTCATCGTTCAGCCGATGTCACCACCAGCCCTTATGCTGACACACAGAATAGCTATGGGTGTGCTACTTCTACCCCTTACTCCACGTCT
CGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGACACGGCTGATAACTGAACCACCACAAGCTACTCTTTGGAGCCCATCT
ATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTGCAGGTGGAAAAGGA
Show »

Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	Yes	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	1 (2)	1 (1)	18 (4)

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-1 (191100)
Description	Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. The frequency of tuberous sclerosis among patients with ASD in epidemiological samples is ~1%; the frequency of ASD in subjects with tuberous sclerosis varies between 16-60%
Reference(s)	9394941; 8132114; 14985384; 17936687; 16901420;
Level	Level 4: The disorder is a generally acknowledged ASD related disorder.

Genome-Wide Association Studies(By Ethnic Group) Top

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

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

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Reference	Source	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Source	Platfrom	ASD Cases	Normal Controls	Result
ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Large Scale Expression Studies Top

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

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
No matched NGS de novo Mutation Studies!

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
Brett M, 2014	-	Illumina HiSeq2000	-	-	autism	-	-	-	8	Sanger sequencing
Toma C, 2014	-	Illumina HiSeq 2000	-	-	ASD	10	-	-	21	-

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for TSC1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics