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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term TGFBR2:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000163513	TGFBR2	0	0	112	ENSG00000163513	ENST00000295754	ENSP00000295754	transforming growth factor, beta receptor II (70/80kDa) [Source:HGNC Symbol;Acc:11773]	3	30647994	30735634	1	p24.1	30647994	30735626	TGFBR2	TGFBR2-001	HGNC Symbol	HGNC transcript name	2	40.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7048	11773	TGFBR2	NM_003242	27517

MSeqDR Master Exome Data Set M1: 123 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	3	30648074	A	G	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	5'_UTR	rs138010137	0.0136	-	lod=139:497	-	-	-	het	1
2	3	30648248	C	G	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	5'_UTR	rs2306856	0.1697	-	lod=54:395	-	-	-	hom	3
3	3	30648248	C	G	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	5'_UTR	rs2306856	0.1697	-	lod=54:395	-	-	-	het	26
4	3	30648248	C	G	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	-	-	5'_UTR	rs2306856	0.1697	-	lod=54:395	-	-	-	hom	3
5	3	30648248	C	G	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	-	-	5'_UTR	rs2306856	0.1697	-	lod=54:395	-	-	-	het	26
6	3	30664707	C	T	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	c.111C>T	p.A37A	syn	rs149757320	-	T=1/C=8595;T=0/C=4404;T=1/C=12999	-	-	-	-	het	4
7	3	30664714	G	A	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	c.118G>A	p.D40N	non-syn	rs61732532	0.0019	A=27/G=8569;A=1/G=4403;A=28/G=12972	-	TOLERATED	B	-	het	6
8	3	30686414	A	G	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	+7bp 5'_splice_site	rs1155705	0.5203	G=2718/A=5882;G=1464/A=2942;G=4182/A=8824	-	-	-	-	het	430
9	3	30686414	A	G	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	+7bp 5'_splice_site	rs1155705	0.5203	G=2718/A=5882;G=1464/A=2942;G=4182/A=8824	-	-	-	-	hom	109
10	3	30686414	A	G	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	-	-	+7bp 5'_splice_site	rs1155705	0.5203	G=2718/A=5882;G=1464/A=2942;G=4182/A=8824	-	-	-	-	het	430
11	3	30686414	A	G	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	-	-	+7bp 5'_splice_site	rs1155705	0.5203	G=2718/A=5882;G=1464/A=2942;G=4182/A=8824	-	-	-	-	hom	109
12	3	30713126	T	A	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	-4bp 3'_splice_site	rs11466512	0.375	A=2651/T=5949;A=672/T=3734;A=3323/T=9683	-	-	-	-	het	399
13	3	30713126	T	A	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	-	-	-4bp 3'_splice_site	rs11466512	0.375	A=2651/T=5949;A=672/T=3734;A=3323/T=9683	-	-	-	-	hom	90
14	3	30713126	T	A	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	-	-	-4bp 3'_splice_site	rs11466512	0.375	A=2651/T=5949;A=672/T=3734;A=3323/T=9683	-	-	-	-	het	399
15	3	30713126	T	A	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	-	-	-4bp 3'_splice_site	rs11466512	0.375	A=2651/T=5949;A=672/T=3734;A=3323/T=9683	-	-	-	-	hom	90
16	3	30713300	C	T	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	c.625C>T	p.L209F	non-syn	NA	-	-	lod=17:272	DAMAGING	B	-	het	1
17	3	30713300	C	T	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	c.700C>T	p.L234F	non-syn	NA	-	-	lod=17:272	DAMAGING	B	-	het	1
18	3	30713444	G	C	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	c.769G>C	p.E257Q	non-syn	NA	-	-	lod=222:547	TOLERATED	B	-	het	2
19	3	30713444	G	C	ENST00000359013	ENSG00000163513	30647994	30735634	ENSP00000351905	TGFBR2	1	TGFR2_HUMAN	c.844G>C	p.E282Q	non-syn	NA	-	-	lod=222:547	TOLERATED	B	-	het	2
20	3	30713659	C	T	ENST00000295754	ENSG00000163513	30647994	30735634	ENSP00000295754	TGFBR2	1	TGFR2_HUMAN	c.984C>T	p.H328H	syn	rs193922666	-	-	lod=136:494	-	-	-	het	3

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Transcripts and variants in the surrounding TGFBR2 3:30647994..30735634 region Gbrowse