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
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
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 BMS1:

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
ENSG00000165733	BMS1	0	0	1	ENSG00000165733	ENST00000374518	ENSP00000363642	BMS1 ribosome biogenesis factor [Source:HGNC Symbol;Acc:23505]	10	43278249	43330385	1	q11.21	43278249	43330385	BMS1	BMS1-001	HGNC Symbol	HGNC transcript name	1	40.62	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	101929959	23505	BMS1	NM_014753	27525

MSeqDR Master Exome Data Set M1: 41 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	10	43281069	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.316T>C	p.F106L	non-syn	rs77961452	0.0014	C=0/T=8600;C=39/T=4367;C=39/T=12967	lod=71:425	DAMAGING	D	-	het	1
2	10	43281089	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.336T>C	p.T112T	syn	rs7074877	0.5535	C=3363/T=5237;C=2628/T=1778;C=5991/T=7015	lod=119:480	-	-	-	het	290
3	10	43281089	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.336T>C	p.T112T	syn	rs7074877	0.5535	C=3363/T=5237;C=2628/T=1778;C=5991/T=7015	lod=119:480	-	-	-	hom	104
4	10	43285788	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.465T>C	p.D155D	syn	NA	-	-	lod=707:670	-	-	-	het	1
5	10	43285839	A	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.516A>C	p.Q172H	non-syn	NA	-	G=0/A=8596;G=2/A=4404;G=2/A=13000	lod=707:670	DAMAGING	D	-	het	1
6	10	43287148	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.710G>A	p.R237H	non-syn	rs2272881	0.0535	A=3/G=8597;A=8/G=4398;A=11/G=12995	lod=637:659	DAMAGING	D	-	het	5
7	10	43287182	A	G	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.744A>G	p.T248T	syn	NA	-	-	lod=637:659	-	-	-	het	3
8	10	43288074	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	-	-	+12bp 5'_splice_site	rs191521695	0.00547	C=28/T=8568;C=1/T=4405;C=29/T=12973	-	-	-	-	het	2
9	10	43288520	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1017T>C	p.L339L	syn	rs77636133	0.0072	C=1/T=8599;C=38/T=4368;C=39/T=12967	lod=486:630	-	-	-	het	2
10	10	43289400	A	T	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1190A>T	p.D397V	non-syn	rs149844017	-	T=0/A=8600;T=13/A=4393;T=13/A=12993	lod=437:619	DAMAGING	B	-	het	1
11	10	43289407	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1197G>A	p.K399K	syn	rs7921071	0.158	A=294/G=8306;A=660/G=3746;A=954/G=12052	lod=437:619	-	-	-	het	39
12	10	43289407	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1197G>A	p.K399K	syn	rs7921071	0.158	A=294/G=8306;A=660/G=3746;A=954/G=12052	lod=437:619	-	-	-	hom	2
13	10	43292033	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1341T>C	p.D447D	syn	NA	-	-	lod=59:405	-	-	-	het	1
14	10	43292067	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1375G>A	p.G459S	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
15	10	43292290	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1598G>A	p.G533E	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	-	TOLERATED	B	-	het	1
16	10	43292357	T	C	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1665T>C	p.N555N	syn	NA	-	-	-	-	-	-	het	3
17	10	43292371	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1679G>A	p.R560H	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
18	10	43292647	A	G	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1955A>G	p.K652R	non-syn	rs787795	0.16182	G=1381/A=7161;G=724/A=3566;G=2105/A=10727	-	TOLERATED	B	-	het	257
19	10	43292647	A	G	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1955A>G	p.K652R	non-syn	rs787795	0.16182	G=1381/A=7161;G=724/A=3566;G=2105/A=10727	-	TOLERATED	B	-	hom	32
20	10	43292675	G	A	ENST00000374518	ENSG00000165733	43278249	43330385	ENSP00000363642	BMS1	1	BMS1_HUMAN	c.1983G>A	p.T661T	syn	rs142050206	0.00271	A=8/G=8582;A=1/G=4373;A=9/G=12955	-	-	-	-	het	13

** 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 BMS1 10:43278249..43330385 region Gbrowse