MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
PMD-VR_Virtual Registry
Collaboration
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 CYP7B1:

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
ENSG00000172817	CYP7B1	1	0	19	ENSG00000172817	ENST00000523954		cytochrome P450, family 7, subfamily B, polypeptide 1 [Source:HGNC Symbol;Acc:2652]	8	65500320	65711318	-1	q12.3	65500320	65528371	CYP7B1	CYP7B1-002	HGNC Symbol	HGNC transcript name	2	37.55	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	9420	2652	CYP7B1		27523

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	8	65508862	A	C	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	-	-	3'_UTR	rs118000312	0.02206	-	-	-	-	-	het	48
2	8	65508862	A	C	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	-	-	3'_UTR	rs118000312	0.02206	-	-	-	-	-	hom	3
3	8	65509150	G	A	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	-	-	3'_UTR	rs8192907	0.0213	-	-	-	-	-	het	1
4	8	65509264	G	A	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.1456C>T	p.R486C	non-syn	rs116171274	0.0014	A=10/G=8590;A=1/G=4403;A=11/G=12993	lod=22:300	DAMAGING	D	HGMD	het	2
5	8	65509397	C	A	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.1323G>T	p.P441P	syn	NA	-	-	lod=29:329	-	-	-	het	1
6	8	65509464	A	G	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.1256T>C	p.I419T	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
7	8	65517300	T	C	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.1172A>G	p.D391G	non-syn	NA	-	-	lod=78:435	DAMAGING	D	-	het	2
8	8	65517300	T	C	ENST00000523954	ENSG00000172817	65500320	65711318	-	CYP7B1	-1	-	c.446A>G	p.D149G	non-syn	NA	-	-	lod=78:435	DAMAGING	D	-	het	2
9	8	65527669	C	T	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.971G>A	p.R324H	non-syn	rs59035258	0.03652	T=344/C=8256;T=40/C=4366;T=384/C=12622	lod=293:576	TOLERATED	B	-	het	81
10	8	65527669	C	T	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.971G>A	p.R324H	non-syn	rs59035258	0.03652	T=344/C=8256;T=40/C=4366;T=384/C=12622	lod=293:576	TOLERATED	B	-	hom	2
11	8	65527669	C	T	ENST00000523954	ENSG00000172817	65500320	65711318	-	CYP7B1	-1	-	c.245G>A	p.R82H	non-syn	rs59035258	0.03652	T=344/C=8256;T=40/C=4366;T=384/C=12622	lod=293:576	TOLERATED	B	-	het	81
12	8	65527669	C	T	ENST00000523954	ENSG00000172817	65500320	65711318	-	CYP7B1	-1	-	c.245G>A	p.R82H	non-syn	rs59035258	0.03652	T=344/C=8256;T=40/C=4366;T=384/C=12622	lod=293:576	TOLERATED	B	-	hom	2
13	8	65527711	C	T	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.929G>A	p.R310Q	non-syn	rs201867790	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	lod=197:534	TOLERATED	P	-	het	2
14	8	65527711	C	T	ENST00000523954	ENSG00000172817	65500320	65711318	-	CYP7B1	-1	-	c.203G>A	p.R68Q	non-syn	rs201867790	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	lod=197:534	TOLERATED	P	-	het	2
15	8	65528230	T	A	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	-	-	+18bp 5'_splice_site	NA	-	A=2/T=8596;A=0/T=4404;A=2/T=13000	lod=1397:743	-	-	-	het	3
16	8	65528230	T	A	ENST00000523954	ENSG00000172817	65500320	65711318	-	CYP7B1	-1	-	-	-	+18bp 5'_splice_site	NA	-	A=2/T=8596;A=0/T=4404;A=2/T=13000	lod=1397:743	-	-	-	het	3
17	8	65528341	T	C	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.757A>G	p.K253E	non-syn	rs200328073	-	-	-	TOLERATED	B	-	het	5
18	8	65528341	T	C	ENST00000523954	ENSG00000172817	65500320	65711318	-	CYP7B1	-1	-	c.31A>G	p.K11E	non-syn	rs200328073	-	-	-	TOLERATED	B	-	het	5
19	8	65528568	G	A	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.530C>T	p.T177M	non-syn	rs145152682	-	A=3/G=8595;A=0/G=4406;A=3/G=13001	-	TOLERATED	B	-	het	2
20	8	65528713	G	T	ENST00000310193	ENSG00000172817	65500320	65711318	ENSP00000310721	CYP7B1	-1	CP7B1_HUMAN	c.385C>A	p.Q129K	non-syn	NA	-	-	-	TOLERATED	B	-	het	3

** 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**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding CYP7B1 8:65500320..65711318 region Gbrowse