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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 RHO:

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
ENSG00000163914	RHO	0	0	49	ENSG00000163914	ENST00000296271	ENSP00000296271	rhodopsin [Source:HGNC Symbol;Acc:10012]	3	129247483	129254012	1	q22.1	129247483	129254012	RHO	RHO-001	HGNC Symbol	HGNC transcript name	1	54.98	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6010	10012	RHO	NM_000539	27517

MSeqDR Master Exome Data Set M1: 48 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	3	129247526	G	A	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	-	-	5'_UTR	rs2269736	0.3188	A=43/G=8557;A=803/G=3601;A=846/G=12158	-	-	-	-	het	57
2	3	129247526	G	A	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	-	-	5'_UTR	rs2269736	0.3188	A=43/G=8557;A=803/G=3601;A=846/G=12158	-	-	-	-	hom	4
3	3	129247551	A	G	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	-	-	5'_UTR	rs7984	0.7594	G=1375/A=7225;G=3558/A=848;G=4933/A=8073	-	-	-	-	het	272
4	3	129247551	A	G	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	-	-	5'_UTR	rs7984	0.7594	G=1375/A=7225;G=3558/A=848;G=4933/A=8073	-	-	-	-	hom	75
5	3	129247728	G	C	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.152G>C	p.G51A	non-syn	rs149079952	0.0077	C=1/G=8599;C=31/G=4375;C=32/G=12974	lod=558:645	DAMAGING	P	HGMD	het	2
6	3	129247749	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.173C>T	p.T58M	non-syn	rs28933394	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=558:645	DAMAGING	D	Retinitis pigmentosa	het	4
7	3	129247763	G	A	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.187G>A	p.V63I	non-syn	rs146936681	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=558:645	TOLERATED	B	-	het	2
8	3	129247875	A	G	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.299A>G	p.H100R	non-syn	rs143735182	-	G=0/A=8600;G=2/A=4404;G=2/A=13004	lod=177:522	DAMAGING	D	-	het	2
9	3	129247932	T	-G	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.357_357del	p.L119NA	non-syn	NA	-	-	lod=43:371	-	-	-	het	1
10	3	129247936	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.360C>T	p.G120G	syn	rs79765751	0.0021	T=39/C=8561;T=8/C=4398;T=47/C=12959	lod=35:349	-	-	-	het	4
11	3	129249765	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.408C>T	p.Y136Y	syn	rs200248198	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=360:598	-	-	HGMD	het	2
12	3	129249797	G	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.440G>T	p.R147L	non-syn	NA	-	-	lod=360:598	DAMAGING	D	-	het	1
13	3	129249837	C	A	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.480C>A	p.T160T	syn	rs151063543	-	A=24/C=8576;A=7/C=4399;A=31/C=12975	lod=209:540	-	-	HGMD	het	7
14	3	129249876	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.519C>T	p.A173A	syn	rs149722668	-	T=3/C=8597;T=0/C=4404;T=3/C=13001	lod=123:483	-	-	-	het	3
15	3	129251263	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	-	-	+4bp 5'_splice_site	rs56340615	0.0918	T=762/C=7838;T=304/C=4102;T=1066/C=11940	-	-	-	-	het	137
16	3	129251263	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	-	-	+4bp 5'_splice_site	rs56340615	0.0918	T=762/C=7838;T=304/C=4102;T=1066/C=11940	-	-	-	-	hom	8
17	3	129251434	G	C	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.755G>C	p.R252P	non-syn	NA	-	-	lod=314:584	DAMAGING	D	HGMD	het	2
18	3	129251570	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.891C>T	p.S297S	syn	rs142285818	0.0035	-	-	-	-	HGMD	het	2
19	3	129252473	C	A	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.959C>A	p.T320N	non-syn	rs138831590	0.0011	-	lod=315:584	DAMAGING	P	-	het	3
20	3	129252483	C	T	ENST00000296271	ENSG00000163914	129247483	129254012	ENSP00000296271	RHO	1	OPSD_HUMAN	c.969C>T	p.C323C	syn	rs142771862	0.0021	T=16/C=8584;T=1/C=4405;T=17/C=12989	lod=315:584	-	-	-	het	2

** 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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Transcripts and variants in the surrounding RHO 3:129247483..129254012 region Gbrowse