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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 COX6B1:

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
ENSG00000126267	COX6B1	1	16	6	ENSG00000126267	ENST00000246554	ENSP00000246554	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) [Source:HGNC Symbol;Acc:2280]	19	36139125	36149763	1	q13.12	36139125	36149763	COX6B1	COX6B1-003	HGNC Symbol	HGNC transcript name	4	49.06	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1340	2280	COX6B1	NM_001863	27526

MSeqDR Master Exome Data Set M1: 31 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	19	36139687	G	C	ENST00000592141	ENSG00000126267	36139125	36149763	ENSP00000466818	COX6B1	1	CX6B1_HUMAN	-	-	5'_UTR	rs114284305	0.0837	-	-	-	-	-	het	8
2	19	36139797	T	C	ENST00000392201	ENSG00000126267	36139125	36149763	ENSP00000376037	COX6B1	1	CX6B1_HUMAN	-	-	5'_UTR	rs200541140	-	C=5/T=3977;C=0/T=1752;C=5/T=5729	-	-	-	-	het	3
3	19	36139797	T	C	ENST00000592141	ENSG00000126267	36139125	36149763	ENSP00000466818	COX6B1	1	CX6B1_HUMAN	-	-	+2bp 5'_splice_site	rs200541140	-	C=5/T=3977;C=0/T=1752;C=5/T=5729	-	-	-	-	het	3
4	19	36142176	A	G	ENST00000246554	ENSG00000126267	36139125	36149763	ENSP00000246554	COX6B1	1	CX6B1_HUMAN	c.31A>G	p.N11D	non-syn	NA	-	-	lod=523:638	TOLERATED	P	-	het	2
5	19	36142176	A	G	ENST00000392201	ENSG00000126267	36139125	36149763	ENSP00000376037	COX6B1	1	CX6B1_HUMAN	c.31A>G	p.N11D	non-syn	NA	-	-	lod=523:638	TOLERATED	P	-	het	2
6	19	36142176	A	G	ENST00000590618	ENSG00000126267	36139125	36149763	ENSP00000467776	COX6B1	1	-	c.19A>G	p.N7D	non-syn	NA	-	-	lod=523:638	TOLERATED	P	-	het	2
7	19	36142176	A	G	ENST00000592141	ENSG00000126267	36139125	36149763	ENSP00000466818	COX6B1	1	CX6B1_HUMAN	c.31A>G	p.N11D	non-syn	NA	-	-	lod=523:638	TOLERATED	P	-	het	2
8	19	36142187	C	T	ENST00000246554	ENSG00000126267	36139125	36149763	ENSP00000246554	COX6B1	1	CX6B1_HUMAN	c.42C>T	p.T14T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	het	125
9	19	36142187	C	T	ENST00000246554	ENSG00000126267	36139125	36149763	ENSP00000246554	COX6B1	1	CX6B1_HUMAN	c.42C>T	p.T14T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	hom	8
10	19	36142187	C	T	ENST00000392201	ENSG00000126267	36139125	36149763	ENSP00000376037	COX6B1	1	CX6B1_HUMAN	c.42C>T	p.T14T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	het	125
11	19	36142187	C	T	ENST00000392201	ENSG00000126267	36139125	36149763	ENSP00000376037	COX6B1	1	CX6B1_HUMAN	c.42C>T	p.T14T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	hom	8
12	19	36142187	C	T	ENST00000590618	ENSG00000126267	36139125	36149763	ENSP00000467776	COX6B1	1	-	c.30C>T	p.T10T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	het	125
13	19	36142187	C	T	ENST00000590618	ENSG00000126267	36139125	36149763	ENSP00000467776	COX6B1	1	-	c.30C>T	p.T10T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	hom	8
14	19	36142187	C	T	ENST00000592141	ENSG00000126267	36139125	36149763	ENSP00000466818	COX6B1	1	CX6B1_HUMAN	c.42C>T	p.T14T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	het	125
15	19	36142187	C	T	ENST00000592141	ENSG00000126267	36139125	36149763	ENSP00000466818	COX6B1	1	CX6B1_HUMAN	c.42C>T	p.T14T	syn	rs7991	0.2346	T=664/C=7936;T=903/C=3503;T=1567/C=11439	lod=523:638	-	-	-	hom	8
16	19	36142210	C	G	ENST00000246554	ENSG00000126267	36139125	36149763	ENSP00000246554	COX6B1	1	CX6B1_HUMAN	c.65C>G	p.P22R	non-syn	NA	-	-	lod=523:638	DAMAGING	D	-	het	2
17	19	36142210	C	G	ENST00000392201	ENSG00000126267	36139125	36149763	ENSP00000376037	COX6B1	1	CX6B1_HUMAN	c.65C>G	p.P22R	non-syn	NA	-	-	lod=523:638	DAMAGING	D	-	het	2
18	19	36142210	C	G	ENST00000590618	ENSG00000126267	36139125	36149763	ENSP00000467776	COX6B1	1	-	c.53C>G	p.P18R	non-syn	NA	-	-	lod=523:638	DAMAGING	D	-	het	2
19	19	36142210	C	G	ENST00000592141	ENSG00000126267	36139125	36149763	ENSP00000466818	COX6B1	1	CX6B1_HUMAN	c.65C>G	p.P22R	non-syn	NA	-	-	lod=523:638	DAMAGING	D	-	het	2
20	19	36145457	A	G	ENST00000246554	ENSG00000126267	36139125	36149763	ENSP00000246554	COX6B1	1	CX6B1_HUMAN	-	-	-16bp 3'_splice_site	rs187740487	0.00092	G=19/A=8581;G=0/A=4406;G=19/A=12987	-	-	-	-	hom	1

** 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 COX6B1 19:36139125..36149763 region Gbrowse