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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 COX11:

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
ENSG00000166260	COX11	1	0	0	ENSG00000166260	ENST00000576370	ENSP00000459901	cytochrome c oxidase assembly homolog 11 (yeast) [Source:HGNC Symbol;Acc:2261]	17	53029263	53046146	-1	q22	53029263	53046014	COX11	COX11-003	HGNC Symbol	HGNC transcript name	9	41.57	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	1353	2261	COX11		27509

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	17	53029690	A	G	ENST00000572088	ENSG00000166260	53029263	53046146	-	COX11	-1	-	c.2821T>C	p.C941R	non-syn	rs8078896	0.67549	-	-	-	-	-	hom	1
2	17	53030584	C	+A	ENST00000572088	ENSG00000166260	53029263	53046146	-	COX11	-1	-	c.1926_1927insT	p.V643NA	non-syn	NA	-	-	-	-	-	-	het	1
3	17	53030584	C	+A	ENST00000572088	ENSG00000166260	53029263	53046146	-	COX11	-1	-	c.1926_1927insT	p.V643NA	non-syn	NA	-	-	-	-	-	-	hom	1
4	17	53030668	G	T	ENST00000572088	ENSG00000166260	53029263	53046146	-	COX11	-1	-	c.1843C>A	p.R615S	non-syn	rs34632315	0.24141	-	-	-	-	-	het	1
5	17	53038654	A	C	ENST00000299335	ENSG00000166260	53029263	53046146	ENSP00000299335	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1802212	0.23077	-	-	-	-	-	het	306
6	17	53038654	A	C	ENST00000299335	ENSG00000166260	53029263	53046146	ENSP00000299335	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1802212	0.23077	-	-	-	-	-	hom	59
7	17	53038654	A	C	ENST00000572558	ENSG00000166260	53029263	53046146	ENSP00000459302	COX11	-1	COX11_HUMAN	c.668T>G	p.V223G	non-syn	rs1802212	0.23077	-	-	-	-	-	het	306
8	17	53038654	A	C	ENST00000572558	ENSG00000166260	53029263	53046146	ENSP00000459302	COX11	-1	COX11_HUMAN	c.668T>G	p.V223G	non-syn	rs1802212	0.23077	-	-	-	-	-	hom	59
9	17	53038654	A	C	ENST00000574821	ENSG00000166260	53029263	53046146	ENSP00000461191	COX11	-1	-	c.143T>G	p.V48G	non-syn	rs1802212	0.23077	-	-	-	-	-	het	306
10	17	53038654	A	C	ENST00000574821	ENSG00000166260	53029263	53046146	ENSP00000461191	COX11	-1	-	c.143T>G	p.V48G	non-syn	rs1802212	0.23077	-	-	-	-	-	hom	59
11	17	53038654	A	C	ENST00000576370	ENSG00000166260	53029263	53046146	ENSP00000459901	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1802212	0.23077	-	-	-	-	-	het	306
12	17	53038654	A	C	ENST00000576370	ENSG00000166260	53029263	53046146	ENSP00000459901	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1802212	0.23077	-	-	-	-	-	hom	59
13	17	53038745	A	G	ENST00000299335	ENSG00000166260	53029263	53046146	ENSP00000299335	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs17817901	0.22875	-	-	-	-	-	hom	54
14	17	53038745	A	G	ENST00000299335	ENSG00000166260	53029263	53046146	ENSP00000299335	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs17817901	0.22875	-	-	-	-	-	het	273
15	17	53038745	A	G	ENST00000576370	ENSG00000166260	53029263	53046146	ENSP00000459901	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs17817901	0.22875	-	-	-	-	-	hom	54
16	17	53038745	A	G	ENST00000576370	ENSG00000166260	53029263	53046146	ENSP00000459901	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs17817901	0.22875	-	-	-	-	-	het	273
17	17	53038783	G	A	ENST00000299335	ENSG00000166260	53029263	53046146	ENSP00000299335	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1057980	0.25046	-	-	-	-	-	het	229
18	17	53038783	G	A	ENST00000299335	ENSG00000166260	53029263	53046146	ENSP00000299335	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1057980	0.25046	-	-	-	-	-	hom	42
19	17	53038783	G	A	ENST00000576370	ENSG00000166260	53029263	53046146	ENSP00000459901	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1057980	0.25046	-	-	-	-	-	het	229
20	17	53038783	G	A	ENST00000576370	ENSG00000166260	53029263	53046146	ENSP00000459901	COX11	-1	COX11_HUMAN	-	-	3'_UTR	rs1057980	0.25046	-	-	-	-	-	hom	42

** 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 COX11 17:53029263..53046146 region Gbrowse