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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 OCRL:

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
ENSG00000122126	OCRL	0	0	59	ENSG00000122126	ENST00000486673		oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]	X	128673826	128726538	1	q25	128673826	128692956	OCRL	OCRL-003	HGNC Symbol	HGNC transcript name	4	39.83	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4952	8108	OCRL		27516

MSeqDR Master Exome Data Set M1: 111 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	128674270	C	+GCTCCCG	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	X	128674270	C	+GCTCCCG	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	X	128674280	T	-CCCGGCG	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	X	128674280	T	-CCCGGCG	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	X	128674408	G	+C	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	1
6	X	128674408	G	+C	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	1
7	X	128674716	C	T	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	-	-	-5bp 3'_splice_site	rs201211377	0.0057	T=0/C=6728;T=4/C=3831;T=4/C=10559	-	-	-	-	het	1
8	X	128674716	C	T	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	-	-	-5bp 3'_splice_site	rs201211377	0.0057	T=0/C=6728;T=4/C=3831;T=4/C=10559	-	-	-	-	het	1
9	X	128674786	G	A	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	c.105G>A	p.R35R	syn	rs142321728	-	A=2/G=6726;A=1/G=3834;A=3/G=10560	lod=102:463	-	-	-	hom	1
10	X	128674786	G	A	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	c.105G>A	p.R35R	syn	rs142321728	-	A=2/G=6726;A=1/G=3834;A=3/G=10560	lod=102:463	-	-	-	hom	1
11	X	128679030	C	G	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	-	-	+16bp 5'_splice_site	rs5977104	0.4898	G=102/C=6626;G=2205/C=1630;G=2307/C=8256	lod=204:538	-	-	-	het	45
12	X	128679030	C	G	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	-	-	+16bp 5'_splice_site	rs5977104	0.4898	G=102/C=6626;G=2205/C=1630;G=2307/C=8256	lod=204:538	-	-	-	hom	33
13	X	128679030	C	G	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	-	-	+16bp 5'_splice_site	rs5977104	0.4898	G=102/C=6626;G=2205/C=1630;G=2307/C=8256	lod=204:538	-	-	-	het	45
14	X	128679030	C	G	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	-	-	+16bp 5'_splice_site	rs5977104	0.4898	G=102/C=6626;G=2205/C=1630;G=2307/C=8256	lod=204:538	-	-	-	hom	33
15	X	128679030	C	G	ENST00000486673	ENSG00000122126	128673826	128726538	-	OCRL	1	-	-	-	+16bp 5'_splice_site	rs5977104	0.4898	G=102/C=6626;G=2205/C=1630;G=2307/C=8256	lod=204:538	-	-	-	het	45
16	X	128679030	C	G	ENST00000486673	ENSG00000122126	128673826	128726538	-	OCRL	1	-	-	-	+16bp 5'_splice_site	rs5977104	0.4898	G=102/C=6626;G=2205/C=1630;G=2307/C=8256	lod=204:538	-	-	-	hom	33
17	X	128691387	C	T	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	c.324C>T	p.L108L	syn	NA	-	-	lod=267:566	-	-	-	hom	1
18	X	128691387	C	T	ENST00000371113	ENSG00000122126	128673826	128726538	ENSP00000360154	OCRL	1	OCRL_HUMAN	c.324C>T	p.L108L	syn	NA	-	-	lod=267:566	-	-	-	hom	1
19	X	128691387	C	T	ENST00000486673	ENSG00000122126	128673826	128726538	-	OCRL	1	-	c.566C>T	p.S189F	non-syn	NA	-	-	lod=267:566	-	-	-	hom	1
20	X	128691839	T	G	ENST00000357121	ENSG00000122126	128673826	128726538	ENSP00000349635	OCRL	1	OCRL_HUMAN	c.351T>G	p.A117A	syn	NA	-	-	lod=160:512	-	-	-	het	1

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Transcripts and variants in the surrounding OCRL X:128673826..128726538 region Gbrowse