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Hello! Guest! Please Login or Register! Clinician Mode

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 OPN1MW:

Ensembl Gene ID	Associated Gene Name	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
ENSG00000268221	OPN1MW	5	ENSG00000268221	ENST00000595290	ENSP00000472316	opsin 1 (cone pigments), medium-wave-sensitive [Source:HGNC Symbol;Acc:4206]	HG1497_PATCH	153351086	153364610	1	q28	153351086	153364610	OPN1MW	OPN1MW-001	HGNC Symbol	HGNC transcript name	3	52.94	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	728458	4206	OPN1MW		0
ENSG00000269433	OPN1MW	5	ENSG00000269433	ENST00000599405	ENSP00000469970		HG1497_PATCH	153426025	153439479	1	q28	153426025	153439479	OPN1MW	OPN1MW-201	UniProtKB Gene Name	UniProt transcript name	1	52.95	protein_coding	protein_coding	ensembl	ensembl	NOVEL	NOVEL	101060233	0			0
ENSG00000147380	OPN1MW	5	ENSG00000147380	ENST00000369935	ENSP00000358951	opsin 1 (cone pigments), medium-wave-sensitive [Source:HGNC Symbol;Acc:4206]	X	153448107	153461633	1	q28	153448107	153461633	OPN1MW	OPN1MW-001	HGNC Symbol	HGNC transcript name	3	52.92	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	728458	4206	OPN1MW	NM_000513	27516

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MSeqDR Master Exome Data Set M1: 6 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	X	153455654	C	T	ENST00000369935	ENSG00000147380	153448107	153461633	ENSP00000358951	OPN1MW	1	OPSG_HUMAN	c.521C>T	p.A174V	non-syn	rs731613	0.5	-	lod=114:475	TOLERATED	B	-	hom	1
2	X	153455654	C	T	ENST00000430054	ENSG00000147380	153448107	153461633	ENSP00000394838	OPN1MW	1	-	c.108C>T	p.C36C	syn	rs731613	0.5	-	lod=114:475	TOLERATED	B	-	hom	1
3	X	153455654	C	T	ENST00000468495	ENSG00000147380	153448107	153461633	-	OPN1MW	1	-	c.531C>T	p.C177C	syn	rs731613	0.5	-	lod=114:475	TOLERATED	B	-	hom	1
4	X	153455665	A	G	ENST00000369935	ENSG00000147380	153448107	153461633	ENSP00000358951	OPN1MW	1	OPSG_HUMAN	c.532A>G	p.I178V	non-syn	rs5742604	-	-	lod=114:475	TOLERATED	B	-	hom	1
5	X	153455665	A	G	ENST00000430054	ENSG00000147380	153448107	153461633	ENSP00000394838	OPN1MW	1	-	c.119A>G	p.D40G	non-syn	rs5742604	-	-	lod=114:475	TOLERATED	B	-	hom	1
6	X	153455665	A	G	ENST00000468495	ENSG00000147380	153448107	153461633	-	OPN1MW	1	-	c.542A>G	p.D181G	non-syn	rs5742604	-	-	lod=114:475	TOLERATED	B	-	hom	1

** 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 OPN1MW X:153448107..153461633 region Gbrowse