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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 FXN:

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
ENSG00000165060	FXN	1	3	11	ENSG00000165060	ENST00000377270	ENSP00000366482	frataxin [Source:HGNC Symbol;Acc:3951]	9	71650175	71715094	1	q21.11	71650175	71689129	FXN	FXN-001	HGNC Symbol	HGNC transcript name	5	45.22	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2395	3951	FXN	NM_000144	27518

MSeqDR Master Exome Data Set M1: 86 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	9	71650333	T	A	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	-	-	5'_UTR	rs141291061	0.0221	-	-	-	-	-	het	20
2	9	71650415	G	A	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	9	71650495	G	A	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	-	-	5'_UTR	rs73647059	0.0082	-	-	-	-	-	het	2
4	9	71650495	G	A	ENST00000396364	ENSG00000165060	71650175	71715094	ENSP00000379650	FXN	1	FRDA_HUMAN	-	-	5'_UTR	rs73647059	0.0082	-	-	-	-	-	het	2
5	9	71650692	G	A	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	-	-	5'_UTR	rs145006100	0.0179	-	-	-	-	-	het	19
6	9	71650692	G	A	ENST00000396364	ENSG00000165060	71650175	71715094	ENSP00000379650	FXN	1	FRDA_HUMAN	-	-	5'_UTR	rs145006100	0.0179	-	-	-	-	-	het	19
7	9	71650692	G	A	ENST00000396366	ENSG00000165060	71650175	71715094	ENSP00000379652	FXN	1	-	-	-	5'_UTR	rs145006100	0.0179	-	-	-	-	-	het	19
8	9	71650752	A	G	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	c.54A>G	p.P18P	syn	rs2481598	1	-	-	-	-	-	het	7
9	9	71650752	A	G	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	c.54A>G	p.P18P	syn	rs2481598	1	-	-	-	-	-	hom	640
10	9	71650752	A	G	ENST00000396364	ENSG00000165060	71650175	71715094	ENSP00000379650	FXN	1	FRDA_HUMAN	c.54A>G	p.P18P	syn	rs2481598	1	-	-	-	-	-	het	7
11	9	71650752	A	G	ENST00000396364	ENSG00000165060	71650175	71715094	ENSP00000379650	FXN	1	FRDA_HUMAN	c.54A>G	p.P18P	syn	rs2481598	1	-	-	-	-	-	hom	640
12	9	71650752	A	G	ENST00000396366	ENSG00000165060	71650175	71715094	ENSP00000379652	FXN	1	-	c.54A>G	p.P18P	syn	rs2481598	1	-	-	-	-	-	het	7
13	9	71650752	A	G	ENST00000396366	ENSG00000165060	71650175	71715094	ENSP00000379652	FXN	1	-	c.54A>G	p.P18P	syn	rs2481598	1	-	-	-	-	-	hom	640
14	9	71650795	T	G	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	c.97T>G	p.L33V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
15	9	71650795	T	G	ENST00000396364	ENSG00000165060	71650175	71715094	ENSP00000379650	FXN	1	FRDA_HUMAN	c.97T>G	p.L33V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
16	9	71650795	T	G	ENST00000396366	ENSG00000165060	71650175	71715094	ENSP00000379652	FXN	1	-	c.97T>G	p.L33V	non-syn	NA	-	-	-	TOLERATED	B	-	het	2
17	9	71661361	A	G	ENST00000377270	ENSG00000165060	71650175	71715094	ENSP00000366482	FXN	1	FRDA_HUMAN	c.226A>G	p.M76V	non-syn	rs59907886	0.0145	G=0/A=8600;G=191/A=4215;G=191/A=12815	-	TOLERATED	B	-	het	3
18	9	71661361	A	G	ENST00000396364	ENSG00000165060	71650175	71715094	ENSP00000379650	FXN	1	FRDA_HUMAN	c.226A>G	p.M76V	non-syn	rs59907886	0.0145	G=0/A=8600;G=191/A=4215;G=191/A=12815	-	TOLERATED	B	-	het	3
19	9	71661361	A	G	ENST00000396366	ENSG00000165060	71650175	71715094	ENSP00000379652	FXN	1	-	c.226A>G	p.M76V	non-syn	rs59907886	0.0145	G=0/A=8600;G=191/A=4215;G=191/A=12815	-	TOLERATED	B	-	het	3
20	9	71661361	A	G	ENST00000484259	ENSG00000165060	71650175	71715094	ENSP00000419243	FXN	1	-	c.39A>G	p.*13W	non-syn	rs59907886	0.0145	G=0/A=8600;G=191/A=4215;G=191/A=12815	-	TOLERATED	B	-	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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding FXN 9:71650175..71715094 region Gbrowse