Variant Details 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; HGNC ID: 12363
Relate to Another Database:	SFARIGene; denovo-db

Variant 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. Chromosome coordinates: hg19

Genetic Category	CNVs/SVs	de novo Mutations	Mosaics SNVs	NGS Other Mutations	Low-Scale Gene Mutations	Linkage Regions	Total
Number	6	7	0	43	11	2	69

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0004679	16	16p13.3	2088391	2415016	326625	gain	external link	Gazzellone MJ, 2014
AutCNV0005676	16	16						Krumm N, 2015
AutCNV0005629	16	16						Krumm N, 2015
AutCNV0004952	8		122405097	122426082	20985	gain	external link	Brand H, 2015
AutCNV0005736	16					gain		C Yuen RK, 2017
AutCNV0005735	16					gain		C Yuen RK, 2017

NGS de novo Mutations Top

iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.

Chr	Pos	Ref	Alt	Coding	AA	Validated Method	iFish Prediction	iFish Probability	Reference
16	2136269	C	Y			Sanger sequencing			O'Roak BJ, 2012
16	2131695	C	T			PCR or Sanger sequencing	deleterious	0.4408	Iossifov I, 2014
16	2124222	G	A/G	c.2377G>A	p.Glu793Lys	Sanger sequencing	deleterious	0.9997	Wang T, 2016
16	2138510		T	c.5467A>T	p.Lys1823Ter				Stessman HA, 2017
16	2136269			c.4738C>T	p.R1580W				Saskin A, 2017
16	2105504	A	G				deleterious	0.9802	Kalsner L, 2018
16	2105504	A	G				deleterious	0.9802	Kalsner L, 2018

NGS Mosaic Mutations Top

Chr	Position	Ref	Alt	Genotype	Validated Method	Reference
No related data!

NGS Other Mutations Top

Chr	Pos	Ref	Alt	Validated	iFish Prediction	iFish Probability	Reference
16	2120487	G	A				Kalsner L, 2018
16	2121536	G	A				Kalsner L, 2018
16	2134981	CCTT	C				Kalsner L, 2018
16	2120487	G	A				Kalsner L, 2018
16	2138320	C	CCAGCGGGTAGGGAATATGGGGCTCCCT				Kalsner L, 2018
16	2134981	CCTT	C				Kalsner L, 2018
16	2112558	G	A				Kalsner L, 2018
16	2110765	C	T				Kalsner L, 2018
16	2138600	G	A				Kalsner L, 2018
16	2121873	G	A				Kalsner L, 2018
16	2120487	G	A				Kalsner L, 2018
16	2137939	A	G				Kalsner L, 2018
16	2138546	G	A				Kalsner L, 2018
16	2138546	G	A				Kalsner L, 2018
16	2122297	G	C				Kalsner L, 2018
16	2134508	G	T				Kalsner L, 2018
16	2121617	T	C				Kalsner L, 2018
16	2098606	C	C/T	Y			Wang T, 2016
16	2100429	A	A/G	Y			Wang T, 2016
16	2106706	C	C/T	Y			Wang T, 2016
16	2107160	T	C/T	Y			Wang T, 2016
16	2120496	G	A/G	Y			Wang T, 2016
16	2131656	A	A/T	Y			Wang T, 2016
16	2134428	G	C/G	Y			Wang T, 2016
16	2138123	A	A/G	Y			Wang T, 2016
16	2138324	C	C/T	Y			Wang T, 2016
16	2103365	A	A/G	Y			Wang T, 2016
16	2100431	C	C/T	Y			Wang T, 2016
16	2106226	C	C/T	Y	neutral	0.1044	Wang T, 2016
16	2138133	A	A/G	Y			Wang T, 2016
16	2138574	T	C/T	Y			Wang T, 2016
16	2124210	G	A/G	Y			Wang T, 2016
16	2104360	G	A/G	Y			Wang T, 2016
16	2104384	G	A/G	Y			Wang T, 2016
16	2110765	C	C/T	Y	deleterious	0.8115	Wang T, 2016
16	2112989	G	A/G	Y			Wang T, 2016
16	2115530	G	A/G	Y			Wang T, 2016
16	2129284	G	A/G	Y			Wang T, 2016
16	2134269	C	C/T	Y			Wang T, 2016
16	2134692	A	A/G	Y			Wang T, 2016
16	2135023	A	A/G	Y			Wang T, 2016
16	2138229	T	C/T	Y			Wang T, 2016
16	2138544	C	C/G	Y			Wang T, 2016

Low-Scale Gene Mutations Top

Chr	Pos	AA	Validated	iFish Prediction	iFish Probability	Reference
			Y			Bahl S, 2013
16	2100452	I64V	Y			Bahl S, 2013
16	2104414	H152D	Y	neutral	0.0685	Bahl S, 2013
16	2114426	K533Q	Y			Bahl S, 2013
16	2127622	K954R	Y			Bahl S, 2013
16	2127711	E984Q	Y			Bahl S, 2013
16	2134508	A1429S	Y	neutral	0.0506	Bahl S, 2013
16	2122327	C728F	Y			Bahl S, 2013
16	2125886	P878S	Y			Bahl S, 2013
16	2127640	S960F	Y			Bahl S, 2013
16	2133801	T1330M	Y			Bahl S, 2013

Linkage Regions 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

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

Variant Details for TSC2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics