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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 TNNI3:

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
ENSG00000129991	TNNI3	1	6	149	ENSG00000129991	ENST00000585806		troponin I type 3 (cardiac) [Source:HGNC Symbol;Acc:11947]	19	55663137	55669141	-1	q13.42	55663137	55667849	TNNI3	TNNI3-007	HGNC Symbol	HGNC transcript name	9	57.72	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	7137	11947	TNNI3		27526

MSeqDR Master Exome Data Set M1: 101 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	19	55663167	G	A	ENST00000344887	ENSG00000129991	55663137	55669141	ENSP00000341838	TNNI3	-1	TNNI3_HUMAN	-	-	3'_UTR	NA	-	A=0/G=8270;A=1/G=3843;A=1/G=12113	-	-	-	-	het	5
2	19	55663167	G	A	ENST00000585806	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.667C>T	p.P223S	non-syn	NA	-	A=0/G=8270;A=1/G=3843;A=1/G=12113	-	-	-	-	het	5
3	19	55663167	G	A	ENST00000588882	ENSG00000129991	55663137	55669141	ENSP00000466729	TNNI3	-1	-	-	-	3'_UTR	NA	-	A=0/G=8270;A=1/G=3843;A=1/G=12113	-	-	-	-	het	5
4	19	55663167	G	A	ENST00000589864	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.496C>T	p.P166S	non-syn	NA	-	A=0/G=8270;A=1/G=3843;A=1/G=12113	-	-	-	-	het	5
5	19	55665410	C	T	ENST00000344887	ENSG00000129991	55663137	55669141	ENSP00000341838	TNNI3	-1	TNNI3_HUMAN	c.537G>A	p.E179E	syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	het	116
6	19	55665410	C	T	ENST00000344887	ENSG00000129991	55663137	55669141	ENSP00000341838	TNNI3	-1	TNNI3_HUMAN	c.537G>A	p.E179E	syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	hom	5
7	19	55665410	C	T	ENST00000585806	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.536G>A	p.R179K	non-syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	het	116
8	19	55665410	C	T	ENST00000585806	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.536G>A	p.R179K	non-syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	hom	5
9	19	55665410	C	T	ENST00000588882	ENSG00000129991	55663137	55669141	ENSP00000466729	TNNI3	-1	-	c.462G>A	p.E154E	syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	het	116
10	19	55665410	C	T	ENST00000588882	ENSG00000129991	55663137	55669141	ENSP00000466729	TNNI3	-1	-	c.462G>A	p.E154E	syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	hom	5
11	19	55665410	C	T	ENST00000589864	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.365G>A	p.R122K	non-syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	het	116
12	19	55665410	C	T	ENST00000589864	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.365G>A	p.R122K	non-syn	rs3729841	0.05952	T=555/C=7877;T=53/C=4061;T=608/C=11938	lod=243:556	-	-	-	hom	5
13	19	55665519	G	T	ENST00000344887	ENSG00000129991	55663137	55669141	ENSP00000341838	TNNI3	-1	TNNI3_HUMAN	c.428C>A	p.T143N	non-syn	NA	-	-	lod=118:479	TOLERATED	B	-	het	1
14	19	55665519	G	T	ENST00000585806	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.427C>A	p.P143T	non-syn	NA	-	-	lod=118:479	TOLERATED	B	-	het	1
15	19	55665519	G	T	ENST00000586669	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.436C>A	p.P146T	non-syn	NA	-	-	lod=118:479	TOLERATED	B	-	het	1
16	19	55665519	G	T	ENST00000588882	ENSG00000129991	55663137	55669141	ENSP00000466729	TNNI3	-1	-	c.353C>A	p.T118N	non-syn	NA	-	-	lod=118:479	TOLERATED	B	-	het	1
17	19	55665519	G	T	ENST00000589864	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	c.256C>A	p.P86T	non-syn	NA	-	-	lod=118:479	TOLERATED	B	-	het	1
18	19	55665584	A	C	ENST00000344887	ENSG00000129991	55663137	55669141	ENSP00000341838	TNNI3	-1	TNNI3_HUMAN	-	-	-10bp 3'_splice_site	rs7252610	1	-	-	-	-	-	hom	1009
19	19	55665584	A	C	ENST00000585806	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	-	-	-10bp 3'_splice_site	rs7252610	1	-	-	-	-	-	hom	1009
20	19	55665584	A	C	ENST00000586669	ENSG00000129991	55663137	55669141	-	TNNI3	-1	-	-	-	-10bp 3'_splice_site	rs7252610	1	-	-	-	-	-	hom	1009

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Transcripts and variants in the surrounding TNNI3 19:55663137..55669141 region Gbrowse