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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 ENSG00000120708:

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
ENSG00000120708	TGFBI	0	0	13	ENSG00000120708	ENST00000442011	ENSP00000416330	transforming growth factor, beta-induced, 68kDa [Source:HGNC Symbol;Acc:11771]	5	135364584	135399507	1	q31.1	135364584	135399506	TGFBI	TGFBI-001	HGNC Symbol	HGNC transcript name	16	48.98	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7045	11771	TGFBI	NM_000358	27527

MSeqDR Master Exome Data Set M1: 474 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	5	135364794	G	+C	ENST00000305126	ENSG00000120708	135364584	135399507	ENSP00000306306	TGFBI	1	-	c.50_51insC	p.G17NA	non-syn	NA	-	-	-	-	-	-	het	4
2	5	135364794	G	+C	ENST00000442011	ENSG00000120708	135364584	135399507	ENSP00000416330	TGFBI	1	BGH3_HUMAN	c.50_51insC	p.G17NA	non-syn	NA	-	-	-	-	-	-	het	4
3	5	135364794	G	+C	ENST00000504185	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	c.118_119insC	p.A40NA	non-syn	NA	-	-	-	-	-	-	het	4
4	5	135364794	G	+C	ENST00000504205	ENSG00000120708	135364584	135399507	ENSP00000426137	TGFBI	1	-	c.50_51insC	p.G17NA	non-syn	NA	-	-	-	-	-	-	het	4
5	5	135364794	G	+C	ENST00000506699	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	c.115_116insC	p.A39NA	non-syn	NA	-	-	-	-	-	-	het	4
6	5	135364892	C	A	ENST00000305126	ENSG00000120708	135364584	135399507	ENSP00000306306	TGFBI	1	-	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	4
7	5	135364892	C	A	ENST00000442011	ENSG00000120708	135364584	135399507	ENSP00000416330	TGFBI	1	BGH3_HUMAN	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	4
8	5	135364892	C	A	ENST00000504185	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	4
9	5	135364892	C	A	ENST00000506699	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	4
10	5	135364892	C	A	ENST00000507018	ENSG00000120708	135364584	135399507	ENSP00000421540	TGFBI	1	-	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	4
11	5	135369448	T	C	ENST00000305126	ENSG00000120708	135364584	135399507	ENSP00000306306	TGFBI	1	-	-	-	-4bp 3'_splice_site	NA	-	C=1/T=8411;C=0/T=4098;C=1/T=12509	lod=603:653	-	-	-	het	2
12	5	135369448	T	C	ENST00000442011	ENSG00000120708	135364584	135399507	ENSP00000416330	TGFBI	1	BGH3_HUMAN	-	-	-4bp 3'_splice_site	NA	-	C=1/T=8411;C=0/T=4098;C=1/T=12509	lod=603:653	-	-	-	het	2
13	5	135369448	T	C	ENST00000504185	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	-	-	-4bp 3'_splice_site	NA	-	C=1/T=8411;C=0/T=4098;C=1/T=12509	lod=603:653	-	-	-	het	2
14	5	135369448	T	C	ENST00000506699	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	-	-	-4bp 3'_splice_site	NA	-	C=1/T=8411;C=0/T=4098;C=1/T=12509	lod=603:653	-	-	-	het	2
15	5	135369448	T	C	ENST00000507018	ENSG00000120708	135364584	135399507	ENSP00000421540	TGFBI	1	-	-	-	-4bp 3'_splice_site	NA	-	C=1/T=8411;C=0/T=4098;C=1/T=12509	lod=603:653	-	-	-	het	2
16	5	135381817	C	T	ENST00000515433	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	c.384C>T	p.H128H	syn	rs45539132	0.0099	-	-	-	-	-	het	1
17	5	135381838	T	C	ENST00000515433	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	c.405T>C	p.Y135Y	syn	rs7723708	0.0028	-	-	-	-	-	het	1
18	5	135381910	T	A	ENST00000515433	ENSG00000120708	135364584	135399507	-	TGFBI	1	-	c.477T>A	p.H159Q	non-syn	rs7723865	0.0149	-	-	-	-	-	het	7
19	5	135382149	G	A	ENST00000305126	ENSG00000120708	135364584	135399507	ENSP00000306306	TGFBI	1	-	c.424G>A	p.A142T	non-syn	NA	-	-	lod=278:571	DAMAGING	-	-	het	1
20	5	135382149	G	A	ENST00000442011	ENSG00000120708	135364584	135399507	ENSP00000416330	TGFBI	1	BGH3_HUMAN	c.424G>A	p.A142T	non-syn	NA	-	-	lod=278:571	DAMAGING	-	-	het	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding TGFBI 5:135364584..135399507 region Gbrowse