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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 F2:

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
ENSG00000180210	F2	0	0	17	ENSG00000180210	ENST00000311907	ENSP00000308541	coagulation factor II (thrombin) [Source:HGNC Symbol;Acc:3535]	11	46740730	46761056	1	p11.2	46740730	46761056	F2	F2-001	HGNC Symbol	HGNC transcript name	5	50.64	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2147	3535	F2	NM_000506	27504

MSeqDR Master Exome Data Set M1: 89 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	11	46740871	G	A	ENST00000311907	ENSG00000180210	46740730	46761056	ENSP00000308541	F2	1	THRB_HUMAN	-	-	+7bp 5'_splice_site	rs3136431	0.037	A=3/G=8595;A=331/G=4071;A=334/G=12666	-	-	-	-	het	13
2	11	46740871	G	A	ENST00000442468	ENSG00000180210	46740730	46761056	ENSP00000387413	F2	1	-	-	-	5'_UTR	rs3136431	0.037	A=3/G=8595;A=331/G=4071;A=334/G=12666	-	-	-	-	het	13
3	11	46740871	G	A	ENST00000469189	ENSG00000180210	46740730	46761056	-	F2	1	-	-	-	+7bp 5'_splice_site	rs3136431	0.037	A=3/G=8595;A=331/G=4071;A=334/G=12666	-	-	-	-	het	13
4	11	46740871	G	A	ENST00000530231	ENSG00000180210	46740730	46761056	ENSP00000433907	F2	1	-	-	-	+7bp 5'_splice_site	rs3136431	0.037	A=3/G=8595;A=331/G=4071;A=334/G=12666	-	-	-	-	het	13
5	11	46741339	T	C	ENST00000311907	ENSG00000180210	46740730	46761056	ENSP00000308541	F2	1	THRB_HUMAN	c.167T>C	p.L56P	non-syn	NA	-	-	lod=136:494	DAMAGING	D	-	het	5
6	11	46741339	T	C	ENST00000442468	ENSG00000180210	46740730	46761056	ENSP00000387413	F2	1	-	c.137T>C	p.L46P	non-syn	NA	-	-	lod=136:494	DAMAGING	D	-	het	5
7	11	46741339	T	C	ENST00000469189	ENSG00000180210	46740730	46761056	-	F2	1	-	c.207T>C	p.P69P	syn	NA	-	-	lod=136:494	DAMAGING	D	-	het	5
8	11	46741339	T	C	ENST00000530231	ENSG00000180210	46740730	46761056	ENSP00000433907	F2	1	-	c.167T>C	p.L56P	non-syn	NA	-	-	lod=136:494	DAMAGING	D	-	het	5
9	11	46741363	C	T	ENST00000311907	ENSG00000180210	46740730	46761056	ENSP00000308541	F2	1	THRB_HUMAN	c.191C>T	p.T64M	non-syn	rs142001812	-	T=7/C=8583;T=3/C=4395;T=10/C=12978	-	TOLERATED	B	-	het	1
10	11	46741363	C	T	ENST00000442468	ENSG00000180210	46740730	46761056	ENSP00000387413	F2	1	-	c.161C>T	p.T54M	non-syn	rs142001812	-	T=7/C=8583;T=3/C=4395;T=10/C=12978	-	TOLERATED	B	-	het	1
11	11	46741363	C	T	ENST00000469189	ENSG00000180210	46740730	46761056	-	F2	1	-	c.231C>T	p.D77D	syn	rs142001812	-	T=7/C=8583;T=3/C=4395;T=10/C=12978	-	TOLERATED	B	-	het	1
12	11	46741363	C	T	ENST00000530231	ENSG00000180210	46740730	46761056	ENSP00000433907	F2	1	-	c.191C>T	p.T64M	non-syn	rs142001812	-	T=7/C=8583;T=3/C=4395;T=10/C=12978	-	TOLERATED	B	-	het	1
13	11	46741364	G	C	ENST00000311907	ENSG00000180210	46740730	46761056	ENSP00000308541	F2	1	THRB_HUMAN	c.192G>C	p.T64T	syn	NA	-	A=1/G=8589;A=1/G=4399;A=2/G=12988	lod=204:538	-	-	-	het	2
14	11	46741364	G	C	ENST00000442468	ENSG00000180210	46740730	46761056	ENSP00000387413	F2	1	-	c.162G>C	p.T54T	syn	NA	-	A=1/G=8589;A=1/G=4399;A=2/G=12988	lod=204:538	-	-	-	het	2
15	11	46741364	G	C	ENST00000469189	ENSG00000180210	46740730	46761056	-	F2	1	-	c.232G>C	p.V78L	non-syn	NA	-	A=1/G=8589;A=1/G=4399;A=2/G=12988	lod=204:538	-	-	-	het	2
16	11	46741364	G	C	ENST00000530231	ENSG00000180210	46740730	46761056	ENSP00000433907	F2	1	-	c.192G>C	p.T64T	syn	NA	-	A=1/G=8589;A=1/G=4399;A=2/G=12988	lod=204:538	-	-	-	het	2
17	11	46741405	C	T	ENST00000311907	ENSG00000180210	46740730	46761056	ENSP00000308541	F2	1	THRB_HUMAN	c.233C>T	p.T78M	non-syn	rs200934494	-	A=0/C=8574;A=1/C=4383;A=1/C=12957	-	TOLERATED	B	-	het	1
18	11	46741405	C	T	ENST00000442468	ENSG00000180210	46740730	46761056	ENSP00000387413	F2	1	-	c.203C>T	p.T68M	non-syn	rs200934494	-	A=0/C=8574;A=1/C=4383;A=1/C=12957	-	TOLERATED	B	-	het	1
19	11	46741405	C	T	ENST00000469189	ENSG00000180210	46740730	46761056	-	F2	1	-	c.273C>T	p.H91H	syn	rs200934494	-	A=0/C=8574;A=1/C=4383;A=1/C=12957	-	TOLERATED	B	-	het	1
20	11	46741405	C	T	ENST00000530231	ENSG00000180210	46740730	46761056	ENSP00000433907	F2	1	-	c.233C>T	p.T78M	non-syn	rs200934494	-	A=0/C=8574;A=1/C=4383;A=1/C=12957	-	TOLERATED	B	-	het	1

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Transcripts and variants in the surrounding F2 11:46740730..46761056 region Gbrowse