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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 ORC1:

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
ENSG00000085840	ORC1	0	0	28	ENSG00000085840	ENST00000371568	ENSP00000360623	origin recognition complex, subunit 1 [Source:HGNC Symbol;Acc:8487]	1	52838501	52870131	-1	p32.3	52838501	52870131	ORC1	ORC1-001	HGNC Symbol	HGNC transcript name	2	44.76	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4998	8487	ORC1	NM_001190818	27511

MSeqDR Master Exome Data Set M1: 90 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	52838542	A	G	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	1	52838542	A	G	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	1	52838542	A	G	ENST00000476332	ENSG00000085840	52838501	52870131	ENSP00000474329	ORC1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	1	52838622	G	A	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	-	-	3'_UTR	rs3087471	0.0938	-	-	-	-	-	hom	2
5	1	52838622	G	A	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	-	-	3'_UTR	rs3087471	0.0938	-	-	-	-	-	het	19
6	1	52838622	G	A	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	-	-	3'_UTR	rs3087471	0.0938	-	-	-	-	-	hom	2
7	1	52838622	G	A	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	-	-	3'_UTR	rs3087471	0.0938	-	-	-	-	-	het	19
8	1	52838622	G	A	ENST00000476332	ENSG00000085840	52838501	52870131	ENSP00000474329	ORC1	-1	-	c.1083C>T	p.A361A	syn	rs3087471	0.0938	-	-	-	-	-	hom	2
9	1	52838622	G	A	ENST00000476332	ENSG00000085840	52838501	52870131	ENSP00000474329	ORC1	-1	-	c.1083C>T	p.A361A	syn	rs3087471	0.0938	-	-	-	-	-	het	19
10	1	52838859	G	A	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	c.2580C>T	p.D860D	syn	rs61756139	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	lod=43:371	-	-	-	het	3
11	1	52838859	G	A	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	c.2580C>T	p.D860D	syn	rs61756139	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	lod=43:371	-	-	-	het	3
12	1	52838992	A	G	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	c.2447T>C	p.M816T	non-syn	rs34521609	0.01984	G=212/A=8388;G=17/A=4389;G=229/A=12777	lod=97:458	DAMAGING	P	-	het	27
13	1	52838992	A	G	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	c.2447T>C	p.M816T	non-syn	rs34521609	0.01984	G=212/A=8388;G=17/A=4389;G=229/A=12777	lod=97:458	DAMAGING	P	-	het	27
14	1	52839012	C	T	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	c.2427G>A	p.E809E	syn	rs77077945	0.0129	T=22/C=8578;T=8/C=4398;T=30/C=12976	lod=85:444	-	-	-	het	2
15	1	52839012	C	T	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	c.2427G>A	p.E809E	syn	rs77077945	0.0129	T=22/C=8578;T=8/C=4398;T=30/C=12976	lod=85:444	-	-	-	het	2
16	1	52840491	C	T	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	c.2382G>A	p.T794T	syn	rs146844078	-	T=7/C=8593;T=0/C=4406;T=7/C=12999	lod=159:511	-	-	-	het	1
17	1	52840491	C	T	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	c.2382G>A	p.T794T	syn	rs146844078	-	T=7/C=8593;T=0/C=4406;T=7/C=12999	lod=159:511	-	-	-	het	1
18	1	52840546	C	T	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	c.2327G>A	p.S776N	non-syn	NA	-	-	lod=227:549	TOLERATED	B	-	het	1
19	1	52840546	C	T	ENST00000371568	ENSG00000085840	52838501	52870131	ENSP00000360623	ORC1	-1	ORC1_HUMAN	c.2327G>A	p.S776N	non-syn	NA	-	-	lod=227:549	TOLERATED	B	-	het	1
20	1	52840559	C	T	ENST00000371566	ENSG00000085840	52838501	52870131	ENSP00000360621	ORC1	-1	ORC1_HUMAN	c.2314G>A	p.V772I	non-syn	rs61753389	0.00378	T=51/C=8549;T=8/C=4398;T=59/C=12947	-	TOLERATED	B	-	het	16

** 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 ORC1 1:52838501..52870131 region Gbrowse