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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 ENSG00000006695:

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
ENSG00000006695	COX10	1	118	22	ENSG00000006695	ENST00000429152	ENSP00000397750	cytochrome c oxidase assembly homolog 10 (yeast) [Source:HGNC Symbol;Acc:2260]	17	13972813	14111994	1	p12	13972813	13980639	COX10	COX10-002	HGNC Symbol	HGNC transcript name	6	38.47	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	1352	2260	COX10		27509

MSeqDR Master Exome Data Set M1: 259 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	13972814	G	A	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	-	-	5'_UTR	rs28680987	0.1706	-	-	-	-	-	het	173
2	17	13972814	G	A	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	-	-	5'_UTR	rs28680987	0.1706	-	-	-	-	-	hom	32
3	17	13972860	C	T	ENST00000261643	ENSG00000006695	13972813	14111994	ENSP00000261643	COX10	1	COX10_HUMAN	-	-	5'_UTR	rs77877576	0.0332	T=98/C=3084;T=13/C=1371;T=111/C=4455	lod=92:452	-	-	-	het	57
4	17	13972860	C	T	ENST00000261643	ENSG00000006695	13972813	14111994	ENSP00000261643	COX10	1	COX10_HUMAN	-	-	5'_UTR	rs77877576	0.0332	T=98/C=3084;T=13/C=1371;T=111/C=4455	lod=92:452	-	-	-	hom	7
5	17	13972860	C	T	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	-	-	5'_UTR	rs77877576	0.0332	T=98/C=3084;T=13/C=1371;T=111/C=4455	lod=92:452	-	-	-	het	57
6	17	13972860	C	T	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	-	-	5'_UTR	rs77877576	0.0332	T=98/C=3084;T=13/C=1371;T=111/C=4455	lod=92:452	-	-	-	hom	7
7	17	13972899	G	A	ENST00000261643	ENSG00000006695	13972813	14111994	ENSP00000261643	COX10	1	COX10_HUMAN	-	-	5'_UTR	rs201257809	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	-	-	-	-	het	1
8	17	13972899	G	A	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	-	-	5'_UTR	rs201257809	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	-	-	-	-	het	1
9	17	13972955	C	T	ENST00000261643	ENSG00000006695	13972813	14111994	ENSP00000261643	COX10	1	COX10_HUMAN	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	het	114
10	17	13972955	C	T	ENST00000261643	ENSG00000006695	13972813	14111994	ENSP00000261643	COX10	1	COX10_HUMAN	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	hom	7
11	17	13972955	C	T	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	het	114
12	17	13972955	C	T	ENST00000429152	ENSG00000006695	13972813	14111994	ENSP00000397750	COX10	1	-	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	hom	7
13	17	13972955	C	T	ENST00000536205	ENSG00000006695	13972813	14111994	ENSP00000439494	COX10	1	-	-	-	5'_UTR	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	het	114
14	17	13972955	C	T	ENST00000536205	ENSG00000006695	13972813	14111994	ENSP00000439494	COX10	1	-	-	-	5'_UTR	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	hom	7
15	17	13972955	C	T	ENST00000537334	ENSG00000006695	13972813	14111994	ENSP00000443354	COX10	1	-	-	-	5'_UTR	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	het	114
16	17	13972955	C	T	ENST00000537334	ENSG00000006695	13972813	14111994	ENSP00000443354	COX10	1	-	-	-	5'_UTR	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	hom	7
17	17	13972955	C	T	ENST00000580561	ENSG00000006695	13972813	14111994	ENSP00000462190	COX10	1	-	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	het	114
18	17	13972955	C	T	ENST00000580561	ENSG00000006695	13972813	14111994	ENSP00000462190	COX10	1	-	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	hom	7
19	17	13972955	C	T	ENST00000581931	ENSG00000006695	13972813	14111994	ENSP00000462512	COX10	1	-	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	het	114
20	17	13972955	C	T	ENST00000581931	ENSG00000006695	13972813	14111994	ENSP00000462512	COX10	1	-	c.33C>T	p.R11R	syn	rs8076787	0.0574	T=579/C=8021;T=49/C=4357;T=628/C=12378	lod=58:403	-	-	-	hom	7

** 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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Transcripts and variants in the surrounding COX10 17:13972813..14111994 region Gbrowse