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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 BMPR1B:

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
ENSG00000138696	BMPR1B	0	0	10	ENSG00000138696	ENST00000515059	ENSP00000426617	bone morphogenetic protein receptor, type IB [Source:HGNC Symbol;Acc:1077]	4	95679119	96079599	1	q22.3	95679119	96079599	BMPR1B	BMPR1B-001	HGNC Symbol	HGNC transcript name	8	36.7	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	658	1077	BMPR1B	NM_001203	27524

MSeqDR Master Exome Data Set M1: 189 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	4	95797047	T	C	ENST00000515059	ENSG00000138696	95679119	96079599	ENSP00000426617	BMPR1B	1	BMR1B_HUMAN	-	-	5'_UTR	rs75697273	0.0223	-	lod=34:346	-	-	-	het	2
2	4	95972844	T	C	ENST00000440890	ENSG00000138696	95679119	96079599	ENSP00000401907	BMPR1B	1	BMR1B_HUMAN	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	2
3	4	95972844	T	C	ENST00000509540	ENSG00000138696	95679119	96079599	ENSP00000421671	BMPR1B	1	BMR1B_HUMAN	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	2
4	4	95972885	A	G	ENST00000440890	ENSG00000138696	95679119	96079599	ENSP00000401907	BMPR1B	1	BMR1B_HUMAN	c.35A>G	p.H12R	non-syn	NA	-	-	lod=110:472	TOLERATED	-	-	het	3
5	4	95972885	A	G	ENST00000509540	ENSG00000138696	95679119	96079599	ENSP00000421671	BMPR1B	1	BMR1B_HUMAN	-	-	5'_UTR	NA	-	-	lod=110:472	TOLERATED	-	-	het	3
6	4	96025586	G	A	ENST00000264568	ENSG00000138696	95679119	96079599	ENSP00000264568	BMPR1B	1	BMR1B_HUMAN	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
7	4	96025586	G	A	ENST00000394931	ENSG00000138696	95679119	96079599	ENSP00000378389	BMPR1B	1	BMR1B_HUMAN	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
8	4	96025586	G	A	ENST00000440890	ENSG00000138696	95679119	96079599	ENSP00000401907	BMPR1B	1	BMR1B_HUMAN	c.101G>A	p.R34Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
9	4	96025586	G	A	ENST00000502683	ENSG00000138696	95679119	96079599	ENSP00000424693	BMPR1B	1	-	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
10	4	96025586	G	A	ENST00000506363	ENSG00000138696	95679119	96079599	ENSP00000421144	BMPR1B	1	-	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
11	4	96025586	G	A	ENST00000509540	ENSG00000138696	95679119	96079599	ENSP00000421671	BMPR1B	1	BMR1B_HUMAN	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
12	4	96025586	G	A	ENST00000512312	ENSG00000138696	95679119	96079599	ENSP00000425444	BMPR1B	1	BMR1B_HUMAN	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
13	4	96025586	G	A	ENST00000515059	ENSG00000138696	95679119	96079599	ENSP00000426617	BMPR1B	1	BMR1B_HUMAN	c.11G>A	p.R4Q	non-syn	rs150974461	0.00093	A=4/G=8594;A=0/G=4406;A=4/G=13000	lod=243:556	TOLERATED	B	-	het	1
14	4	96035956	T	G	ENST00000264568	ENSG00000138696	95679119	96079599	ENSP00000264568	BMPR1B	1	BMR1B_HUMAN	c.229T>G	p.S77A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1
15	4	96035956	T	G	ENST00000394931	ENSG00000138696	95679119	96079599	ENSP00000378389	BMPR1B	1	BMR1B_HUMAN	c.229T>G	p.S77A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1
16	4	96035956	T	G	ENST00000440890	ENSG00000138696	95679119	96079599	ENSP00000401907	BMPR1B	1	BMR1B_HUMAN	c.319T>G	p.S107A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1
17	4	96035956	T	G	ENST00000502683	ENSG00000138696	95679119	96079599	ENSP00000424693	BMPR1B	1	-	c.229T>G	p.S77A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1
18	4	96035956	T	G	ENST00000506363	ENSG00000138696	95679119	96079599	ENSP00000421144	BMPR1B	1	-	c.229T>G	p.S77A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1
19	4	96035956	T	G	ENST00000509540	ENSG00000138696	95679119	96079599	ENSP00000421671	BMPR1B	1	BMR1B_HUMAN	c.229T>G	p.S77A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1
20	4	96035956	T	G	ENST00000512312	ENSG00000138696	95679119	96079599	ENSP00000425444	BMPR1B	1	BMR1B_HUMAN	c.229T>G	p.S77A	non-syn	rs200702974	-	G=3/T=8597;G=0/T=4406;G=3/T=13003	lod=173:520	TOLERATED	B	-	het	1

** 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 BMPR1B 4:95679119..96079599 region Gbrowse