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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 CYBB:

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
ENSG00000268765	CYBB	1	0	76	ENSG00000268765	ENST00000596392	ENSP00000468868	cytochrome b-245, beta polypeptide [Source:HGNC Symbol;Acc:2578]	HG1424_PATCH	37640073	37673523	1	p11.4	37640073	37673523	CYBB	CYBB-001	HGNC Symbol	HGNC transcript name	4	37.33	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1536	2578	CYBB		0
ENSG00000165168	CYBB	1	0	76	ENSG00000165168	ENST00000378588	ENSP00000367851	cytochrome b-245, beta polypeptide [Source:HGNC Symbol;Acc:2578]	X	37639264	37672714	1	p11.4	37639264	37672714	CYBB	CYBB-001	HGNC Symbol	HGNC transcript name	4	37.33	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1536	2578	CYBB	NM_000397	27516

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MSeqDR Master Exome Data Set M1: 66 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	X	37639373	A	G	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	c.43A>G	p.I15V	non-syn	NA	-	-	lod=111:472	TOLERATED	B	-	het	3
2	X	37639373	A	G	ENST00000536160	ENSG00000165168	37639264	37672714	ENSP00000441958	CYBB	1	-	-	-	5'_UTR	NA	-	-	lod=111:472	TOLERATED	B	-	het	3
3	X	37639373	A	G	ENST00000545017	ENSG00000165168	37639264	37672714	ENSP00000441896	CYBB	1	-	c.43A>G	p.I15V	non-syn	NA	-	-	lod=111:472	TOLERATED	B	-	het	3
4	X	37655190	T	+G	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1
5	X	37655190	T	+G	ENST00000545017	ENSG00000165168	37639264	37672714	ENSP00000441896	CYBB	1	-	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1
6	X	37658204	C	T	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	-	-	-4bp 3'_splice_site	NA	-	-	lod=97:458	-	-	-	het	1
7	X	37658204	C	T	ENST00000492288	ENSG00000165168	37639264	37672714	-	CYBB	1	-	-	-	-4bp 3'_splice_site	NA	-	-	lod=97:458	-	-	-	het	1
8	X	37658204	C	T	ENST00000536160	ENSG00000165168	37639264	37672714	ENSP00000441958	CYBB	1	-	-	-	-4bp 3'_splice_site	NA	-	-	lod=97:458	-	-	-	het	1
9	X	37658204	C	T	ENST00000545017	ENSG00000165168	37639264	37672714	ENSP00000441896	CYBB	1	-	-	-	-4bp 3'_splice_site	NA	-	-	lod=97:458	-	-	-	het	1
10	X	37663234	G	A	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	c.1002G>A	p.K334K	syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	het	8
11	X	37663234	G	A	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	c.1002G>A	p.K334K	syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	hom	9
12	X	37663234	G	A	ENST00000492288	ENSG00000165168	37639264	37672714	-	CYBB	1	-	c.427G>A	p.A143T	non-syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	het	8
13	X	37663234	G	A	ENST00000492288	ENSG00000165168	37639264	37672714	-	CYBB	1	-	c.427G>A	p.A143T	non-syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	hom	9
14	X	37663234	G	A	ENST00000536160	ENSG00000165168	37639264	37672714	ENSP00000441958	CYBB	1	-	c.201G>A	p.K67K	syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	het	8
15	X	37663234	G	A	ENST00000536160	ENSG00000165168	37639264	37672714	ENSP00000441958	CYBB	1	-	c.201G>A	p.K67K	syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	hom	9
16	X	37663234	G	A	ENST00000545017	ENSG00000165168	37639264	37672714	ENSP00000441896	CYBB	1	-	c.906G>A	p.K302K	syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	het	8
17	X	37663234	G	A	ENST00000545017	ENSG00000165168	37639264	37672714	ENSP00000441896	CYBB	1	-	c.906G>A	p.K302K	syn	rs2228117	0.13	A=2/G=6726;A=707/G=3126;A=709/G=9852	-	-	-	-	hom	9
18	X	37663322	G	C	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	c.1090G>C	p.G364R	non-syn	rs141756032	0.00391	C=34/G=6694;C=2/G=3831;C=36/G=10525	lod=350:595	TOLERATED	P	-	hom	5
19	X	37663322	G	C	ENST00000378588	ENSG00000165168	37639264	37672714	ENSP00000367851	CYBB	1	CY24B_HUMAN	c.1090G>C	p.G364R	non-syn	rs141756032	0.00391	C=34/G=6694;C=2/G=3831;C=36/G=10525	lod=350:595	TOLERATED	P	-	het	8
20	X	37663322	G	C	ENST00000492288	ENSG00000165168	37639264	37672714	-	CYBB	1	-	c.515G>C	p.G172A	non-syn	rs141756032	0.00391	C=34/G=6694;C=2/G=3831;C=36/G=10525	lod=350:595	TOLERATED	P	-	hom	5

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Transcripts and variants in the surrounding CYBB X:37639264..37672714 region Gbrowse