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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 COG1:

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
ENSG00000166685	COG1	1	0	18	ENSG00000166685	ENST00000299886	ENSP00000299886	component of oligomeric golgi complex 1 [Source:HGNC Symbol;Acc:6545]	17	71189129	71204646	1	q25.1	71189129	71204646	COG1	COG1-001	HGNC Symbol	HGNC transcript name	9	48.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9382	6545	COG1	NM_018714	27509

MSeqDR Master Exome Data Set M1: 181 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	17	71189155	A	+G	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	11
2	17	71189155	A	+GG	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	rs3071285	-	-	-	-	-	-	het	368
3	17	71189155	A	+GG	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	rs3071285	-	-	-	-	-	-	hom	170
4	17	71189155	A	+GGG	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	rs3071285	-	-	-	-	-	-	het	21
5	17	71189182	A	G	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	rs3764359	0.4808	G=4557/A=3843;G=2259/A=2013;G=6816/A=5856	-	-	-	-	het	389
6	17	71189182	A	G	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	rs3764359	0.4808	G=4557/A=3843;G=2259/A=2013;G=6816/A=5856	-	-	-	-	hom	230
7	17	71189207	C	T	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	17	71189266	G	C	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	c.58G>C	p.A20P	non-syn	rs142719529	0.0037	C=154/G=8438;C=18/G=4374;C=172/G=12812	lod=1228:729	DAMAGING	D	-	hom	3
9	17	71189266	G	C	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	c.58G>C	p.A20P	non-syn	rs142719529	0.0037	C=154/G=8438;C=18/G=4374;C=172/G=12812	lod=1228:729	DAMAGING	D	-	het	16
10	17	71189266	G	C	ENST00000438720	ENSG00000166685	71189129	71204646	ENSP00000400111	COG1	1	-	c.56G>C	p.G19A	non-syn	rs142719529	0.0037	C=154/G=8438;C=18/G=4374;C=172/G=12812	lod=1228:729	DAMAGING	D	-	hom	3
11	17	71189266	G	C	ENST00000438720	ENSG00000166685	71189129	71204646	ENSP00000400111	COG1	1	-	c.56G>C	p.G19A	non-syn	rs142719529	0.0037	C=154/G=8438;C=18/G=4374;C=172/G=12812	lod=1228:729	DAMAGING	D	-	het	16
12	17	71189266	G	C	ENST00000582587	ENSG00000166685	71189129	71204646	ENSP00000462101	COG1	1	-	c.35G>C	p.G12A	non-syn	rs142719529	0.0037	C=154/G=8438;C=18/G=4374;C=172/G=12812	lod=1228:729	DAMAGING	D	-	hom	3
13	17	71189266	G	C	ENST00000582587	ENSG00000166685	71189129	71204646	ENSP00000462101	COG1	1	-	c.35G>C	p.G12A	non-syn	rs142719529	0.0037	C=154/G=8438;C=18/G=4374;C=172/G=12812	lod=1228:729	DAMAGING	D	-	het	16
14	17	71189293	G	A	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	c.85G>A	p.E29K	non-syn	NA	-	-	lod=1228:729	DAMAGING	D	-	het	3
15	17	71189293	G	A	ENST00000438720	ENSG00000166685	71189129	71204646	ENSP00000400111	COG1	1	-	c.83G>A	p.G28E	non-syn	NA	-	-	lod=1228:729	DAMAGING	D	-	het	3
16	17	71189293	G	A	ENST00000582587	ENSG00000166685	71189129	71204646	ENSP00000462101	COG1	1	-	c.62G>A	p.G21E	non-syn	NA	-	-	lod=1228:729	DAMAGING	D	-	het	3
17	17	71192611	G	-TTC	ENST00000582587	ENSG00000166685	71189129	71204646	ENSP00000462101	COG1	1	-	-	-	-12bp 3'_splice_site	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	-	-	-	-	het	2
18	17	71192663	G	A	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	c.333G>A	p.Q111Q	syn	rs1052706	0.49516	A=4598/G=4002;A=1213/G=3193;A=5811/G=7195	lod=205:538	-	-	-	het	514
19	17	71192663	G	A	ENST00000299886	ENSG00000166685	71189129	71204646	ENSP00000299886	COG1	1	COG1_HUMAN	c.333G>A	p.Q111Q	syn	rs1052706	0.49516	A=4598/G=4002;A=1213/G=3193;A=5811/G=7195	lod=205:538	-	-	-	hom	274
20	17	71192663	G	A	ENST00000438720	ENSG00000166685	71189129	71204646	ENSP00000400111	COG1	1	-	c.331G>A	p.G111R	non-syn	rs1052706	0.49516	A=4598/G=4002;A=1213/G=3193;A=5811/G=7195	lod=205:538	-	-	-	het	514

** 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 COG1 17:71189129..71204646 region Gbrowse