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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 FH:

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
ENSG00000091483	FH	1	152	146	ENSG00000091483	ENST00000366560	ENSP00000355518	fumarate hydratase [Source:HGNC Symbol;Acc:3700]	1	241660903	241683061	-1	q43	241660903	241683061	FH	FH-001	HGNC Symbol	HGNC transcript name	3	36.87	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2271	3700	FH	NM_000143	27511

MSeqDR Master Exome Data Set M1: 29 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	1	241660905	T	-AA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	3'_UTR	rs112946286	-	-	-	-	-	-	het	1
2	1	241661026	A	G	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	3'_UTR	rs200093224	-	-	-	-	-	-	het	2
3	1	241661075	G	-TC	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	1	241661227	A	+TT	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.1433_1434insAA	p.N478NA	non-syn	NA	-	-	lod=667:664	-	-	HGMD	het	1
5	1	241661227	A	+TTT	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.1433_1434insAAA	p.N478NA	non-syn	NA	-	-	lod=667:664	-	-	HGMD	het	2
6	1	241663825	G	A	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.1302C>T	p.C434C	syn	rs2070080	0.0697	A=5/G=8595;A=428/G=3978;A=433/G=12573	lod=319:585	-	-	-	hom	1
7	1	241663825	G	A	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.1302C>T	p.C434C	syn	rs2070080	0.0697	A=5/G=8595;A=428/G=3978;A=433/G=12573	lod=319:585	-	-	-	het	7
8	1	241663902	T	-GA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
9	1	241663902	T	+GA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	8
10	1	241663902	T	-GAGA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
11	1	241663902	T	+GAGA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	-12bp 3'_splice_site	rs144131869	-	-	-	-	-	-	het	8
12	1	241663902	T	+GAGA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	-12bp 3'_splice_site	rs144131869	-	-	-	-	-	-	hom	2
13	1	241663902	T	+GAGAGA	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
14	1	241667401	C	T	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.1049G>A	p.R350Q	non-syn	NA	-	-	lod=284:573	DAMAGING	D	-	het	1
15	1	241667437	A	G	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.1013T>C	p.I338T	non-syn	rs201975537	-	-	lod=284:573	DAMAGING	D	-	het	1
16	1	241667523	C	T	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.927G>A	p.P309P	syn	rs61737760	0.0341	T=202/C=8398;T=85/C=4321;T=287/C=12719	lod=463:625	-	-	-	het	50
17	1	241667523	C	T	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.927G>A	p.P309P	syn	rs61737760	0.0341	T=202/C=8398;T=85/C=4321;T=287/C=12719	lod=463:625	-	-	-	hom	4
18	1	241671939	A	C	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.702T>G	p.T234T	syn	rs201083387	-	-	lod=139:497	-	-	-	het	1
19	1	241671986	C	T	ENST00000366560	ENSG00000091483	241660903	241683061	ENSP00000355518	FH	-1	FUMH_HUMAN	c.655G>A	p.D219N	non-syn	rs11545656	-	-	-	TOLERATED	B	-	het	1
20	1	241675239	C	+A	ENST00000497042	ENSG00000091483	241660903	241683061	-	FH	-1	-	c.278_279insT	p.L93NA	non-syn	NA	-	-	-	-	-	-	het	3

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FH 1:241660903..241683061 region Gbrowse