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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 COX6A1:

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
ENSG00000111775	COX6A1	1	1	1	ENSG00000111775	ENST00000550009		cytochrome c oxidase subunit VIa polypeptide 1 [Source:HGNC Symbol;Acc:2277]	12	120875893	120878545	1	q24.31	120875893	120876613	COX6A1	COX6A1-002	HGNC Symbol	HGNC transcript name	3	48.25	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	1337	2277	COX6A1		27519

MSeqDR Master Exome Data Set M1: 24 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	12	120875965	G	C	ENST00000229379	ENSG00000111775	120875893	120878545	ENSP00000229379	COX6A1	1	CX6A1_HUMAN	c.36G>C	p.L12L	syn	rs146320405	-	C=0/G=8600;C=10/G=4394;C=10/G=12994	-	-	-	-	het	1
2	12	120875965	G	C	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.73G>C	p.A25P	non-syn	rs146320405	-	C=0/G=8600;C=10/G=4394;C=10/G=12994	-	-	-	-	het	1
3	12	120876307	C	G	ENST00000229379	ENSG00000111775	120875893	120878545	ENSP00000229379	COX6A1	1	CX6A1_HUMAN	c.229C>G	p.L77V	non-syn	rs202037015	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=145:501	DAMAGING	D	-	het	1
4	12	120876307	C	G	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.266C>G	p.S89C	non-syn	rs202037015	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=145:501	DAMAGING	D	-	het	1
5	12	120876437	C	T	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.396C>T	p.I132I	syn	NA	-	-	-	-	-	-	het	2
6	12	120876466	A	G	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.425A>G	p.H142R	non-syn	NA	-	-	-	-	-	-	het	1
7	12	120876476	T	A	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.435T>A	p.D145E	non-syn	rs77643067	0.0537	-	-	-	-	-	hom	5
8	12	120876476	T	A	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.435T>A	p.D145E	non-syn	rs77643067	0.0537	-	-	-	-	-	het	40
9	12	120876483	C	G	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.442C>G	p.L148V	non-syn	NA	-	-	-	-	-	-	het	1
10	12	120876588	G	-TTC	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.548_550del	p.V183NA	non-syn	NA	-	-	-	-	-	-	hom	1
11	12	120876588	G	-TT	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.548_549del	p.V183NA	non-syn	NA	-	-	-	-	-	-	hom	1
12	12	120876589	T	-TC	ENST00000550009	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.549_550del	p.V183NA	non-syn	NA	-	-	-	-	-	-	hom	1
13	12	120877821	T	A	ENST00000549525	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.48T>A	p.A16A	syn	rs11609119	0.235	-	lod=14:251	-	-	-	het	3
14	12	120878232	T	C	ENST00000549525	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.459T>C	p.Y153Y	syn	rs117492062	0.036	C=4/T=8596;C=157/T=4249;C=161/T=12845	-	-	-	-	het	5
15	12	120878361	C	T	ENST00000229379	ENSG00000111775	120875893	120878545	ENSP00000229379	COX6A1	1	CX6A1_HUMAN	-	-	3'_UTR	rs140777141	0.00481	T=26/C=8574;T=2/C=4404;T=28/C=12978	-	-	-	-	het	2
16	12	120878361	C	T	ENST00000549525	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.588C>T	p.P196P	syn	rs140777141	0.00481	T=26/C=8574;T=2/C=4404;T=28/C=12978	-	-	-	-	het	2
17	12	120878485	A	G	ENST00000229379	ENSG00000111775	120875893	120878545	ENSP00000229379	COX6A1	1	CX6A1_HUMAN	-	-	3'_UTR	rs142326243	0.0014	-	-	-	-	-	het	1
18	12	120878485	A	G	ENST00000549525	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.712A>G	p.I238V	non-syn	rs142326243	0.0014	-	-	-	-	-	het	1
19	12	120878505	A	G	ENST00000229379	ENSG00000111775	120875893	120878545	ENSP00000229379	COX6A1	1	CX6A1_HUMAN	-	-	3'_UTR	NA	-	-	lod=86:445	-	-	-	het	4
20	12	120878505	A	G	ENST00000549525	ENSG00000111775	120875893	120878545	-	COX6A1	1	-	c.732A>G	p.G244G	syn	NA	-	-	lod=86:445	-	-	-	het	4

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding COX6A1 12:120875893..120878545 region Gbrowse