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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 CYC1:

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
ENSG00000179091	CYC1	1	10	2	ENSG00000179091	ENST00000318911	ENSP00000317159	cytochrome c-1 [Source:HGNC Symbol;Acc:2579]	8	145149930	145152428	1	q24.3	145149930	145152428	CYC1	CYC1-001	HGNC Symbol	HGNC transcript name	4	63.31	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1537	2579	CYC1	NM_001916	27523

MSeqDR Master Exome Data Set M1: 63 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	8	145150101	T	G	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.99T>G	p.R33R	syn	rs11541475	0.939	-	lod=38:358	-	-	-	hom	503
2	8	145150101	T	G	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.99T>G	p.R33R	syn	rs11541475	0.939	-	lod=38:358	-	-	-	het	107
3	8	145150101	T	G	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.160T>G	p.S54A	non-syn	rs11541475	0.939	-	lod=38:358	-	-	-	hom	503
4	8	145150101	T	G	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.160T>G	p.S54A	non-syn	rs11541475	0.939	-	lod=38:358	-	-	-	het	107
5	8	145150651	C	G	ENST00000528618	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.263C>G	p.A88G	non-syn	rs140130660	0.0022	-	-	-	-	-	het	2
6	8	145150651	C	G	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.710C>G	p.A237G	non-syn	rs140130660	0.0022	-	-	-	-	-	het	2
7	8	145150795	G	A	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.189G>A	p.A63A	syn	rs146030978	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=193:532	-	-	-	het	1
8	8	145150795	G	A	ENST00000528618	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.407G>A	p.R136H	non-syn	rs146030978	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=193:532	-	-	-	het	1
9	8	145150795	G	A	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.854G>A	p.R285H	non-syn	rs146030978	-	A=0/G=8600;A=2/G=4404;A=2/G=13004	lod=193:532	-	-	-	het	1
10	8	145150832	A	G	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.226A>G	p.M76V	non-syn	rs7820984	1	G=8589/A=9;G=3830/A=574;G=12419/A=583	lod=49:385	TOLERATED	NA	-	het	7
11	8	145150832	A	G	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.226A>G	p.M76V	non-syn	rs7820984	1	G=8589/A=9;G=3830/A=574;G=12419/A=583	lod=49:385	TOLERATED	NA	-	hom	1009
12	8	145150832	A	G	ENST00000528618	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.444A>G	p.P148P	syn	rs7820984	1	G=8589/A=9;G=3830/A=574;G=12419/A=583	lod=49:385	TOLERATED	NA	-	het	7
13	8	145150832	A	G	ENST00000528618	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.444A>G	p.P148P	syn	rs7820984	1	G=8589/A=9;G=3830/A=574;G=12419/A=583	lod=49:385	TOLERATED	NA	-	hom	1009
14	8	145150832	A	G	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.891A>G	p.P297P	syn	rs7820984	1	G=8589/A=9;G=3830/A=574;G=12419/A=583	lod=49:385	TOLERATED	NA	-	het	7
15	8	145150832	A	G	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.891A>G	p.P297P	syn	rs7820984	1	G=8589/A=9;G=3830/A=574;G=12419/A=583	lod=49:385	TOLERATED	NA	-	hom	1009
16	8	145150864	C	T	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.258C>T	p.D86D	syn	rs200527190	-	-	lod=296:577	-	-	-	het	1
17	8	145150864	C	T	ENST00000528618	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.476C>T	p.T159I	non-syn	rs200527190	-	-	lod=296:577	-	-	-	het	1
18	8	145150864	C	T	ENST00000533444	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.923C>T	p.T308I	non-syn	rs200527190	-	-	lod=296:577	-	-	-	het	1
19	8	145150865	C	T	ENST00000318911	ENSG00000179091	145149930	145152428	ENSP00000317159	CYC1	1	CY1_HUMAN	c.259C>T	p.L87L	syn	rs2230226	0.0012	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=296:577	-	-	-	het	1
20	8	145150865	C	T	ENST00000528618	ENSG00000179091	145149930	145152428	-	CYC1	1	-	c.477C>T	p.T159T	syn	rs2230226	0.0012	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=296:577	-	-	-	het	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CYC1 8:145149930..145152428 region Gbrowse