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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 COQ3:

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
ENSG00000132423	COQ3	1	0	0	ENSG00000132423	ENST00000254759	ENSP00000254759	coenzyme Q3 methyltransferase [Source:HGNC Symbol;Acc:18175]	6	99817276	99842080	-1	q16.2	99817276	99842080	COQ3	COQ3-001	HGNC Symbol	HGNC transcript name	4	39.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51805	18175	COQ3	NM_017421	27515

MSeqDR Master Exome Data Set M1: 87 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	6	99817419	T	+C	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	-	-	3'_UTR	rs11437017	-	-	-	-	-	-	het	255
2	6	99817419	T	+C	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	-	-	3'_UTR	rs11437017	-	-	-	-	-	-	hom	636
3	6	99817419	T	+C	ENST00000369240	ENSG00000132423	99817276	99842080	ENSP00000358243	COQ3	-1	-	-	-	3'_UTR	rs11437017	-	-	-	-	-	-	het	255
4	6	99817419	T	+C	ENST00000369240	ENSG00000132423	99817276	99842080	ENSP00000358243	COQ3	-1	-	-	-	3'_UTR	rs11437017	-	-	-	-	-	-	hom	636
5	6	99817419	T	+C	ENST00000369242	ENSG00000132423	99817276	99842080	ENSP00000358245	COQ3	-1	-	-	-	3'_UTR	rs11437017	-	-	-	-	-	-	het	255
6	6	99817419	T	+C	ENST00000369242	ENSG00000132423	99817276	99842080	ENSP00000358245	COQ3	-1	-	-	-	3'_UTR	rs11437017	-	-	-	-	-	-	hom	636
7	6	99817434	A	G	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	-	-	3'_UTR	NA	-	G=11/A=8589;G=2/A=4402;G=13/A=12991	-	-	-	-	het	3
8	6	99817434	A	G	ENST00000369240	ENSG00000132423	99817276	99842080	ENSP00000358243	COQ3	-1	-	-	-	3'_UTR	NA	-	G=11/A=8589;G=2/A=4402;G=13/A=12991	-	-	-	-	het	3
9	6	99817434	A	G	ENST00000369242	ENSG00000132423	99817276	99842080	ENSP00000358245	COQ3	-1	-	-	-	3'_UTR	NA	-	G=11/A=8589;G=2/A=4402;G=13/A=12991	-	-	-	-	het	3
10	6	99817488	C	-T	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	c.1097_1097del	p.K366NA	non-syn	NA	-	-	-	-	-	-	het	2
11	6	99817488	C	-T	ENST00000369240	ENSG00000132423	99817276	99842080	ENSP00000358243	COQ3	-1	-	c.413_413del	p.K138NA	non-syn	NA	-	-	-	-	-	-	het	2
12	6	99817488	C	-T	ENST00000369242	ENSG00000132423	99817276	99842080	ENSP00000358245	COQ3	-1	-	c.413_413del	p.K138NA	non-syn	NA	-	-	-	-	-	-	het	2
13	6	99817491	T	A	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	c.1095A>T	p.E365D	non-syn	rs146322292	0.0066	-	-	DAMAGING	D	-	het	1
14	6	99817491	T	A	ENST00000369240	ENSG00000132423	99817276	99842080	ENSP00000358243	COQ3	-1	-	c.411A>T	p.E137D	non-syn	rs146322292	0.0066	-	-	DAMAGING	D	-	het	1
15	6	99817491	T	A	ENST00000369242	ENSG00000132423	99817276	99842080	ENSP00000358245	COQ3	-1	-	c.411A>T	p.E137D	non-syn	rs146322292	0.0066	-	-	DAMAGING	D	-	het	1
16	6	99817543	C	T	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	c.1043G>A	p.G348E	non-syn	rs149092161	-	T=11/C=8589;T=0/C=4406;T=11/C=12995	-	TOLERATED	B	-	het	2
17	6	99817543	C	T	ENST00000369240	ENSG00000132423	99817276	99842080	ENSP00000358243	COQ3	-1	-	c.359G>A	p.G120E	non-syn	rs149092161	-	T=11/C=8589;T=0/C=4406;T=11/C=12995	-	TOLERATED	B	-	het	2
18	6	99817543	C	T	ENST00000369242	ENSG00000132423	99817276	99842080	ENSP00000358245	COQ3	-1	-	c.359G>A	p.G120E	non-syn	rs149092161	-	T=11/C=8589;T=0/C=4406;T=11/C=12995	-	TOLERATED	B	-	het	2
19	6	99817601	A	G	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	c.985T>C	p.Y329H	non-syn	rs4144164	0.9916	G=8596/A=4;G=3661/A=745;G=12257/A=749	lod=152:506	TOLERATED	NA	-	het	17
20	6	99817601	A	G	ENST00000254759	ENSG00000132423	99817276	99842080	ENSP00000254759	COQ3	-1	COQ3_HUMAN	c.985T>C	p.Y329H	non-syn	rs4144164	0.9916	G=8596/A=4;G=3661/A=745;G=12257/A=749	lod=152:506	TOLERATED	NA	-	hom	1017

** 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 COQ3 6:99817276..99842080 region Gbrowse