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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 ENSG00000072694:

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
ENSG00000072694	FCGR2B	0	0	1	ENSG00000072694	ENST00000236937	ENSP00000236937	Fc fragment of IgG, low affinity IIb, receptor (CD32) [Source:HGNC Symbol;Acc:3618]	1	161551101	161648444	1	q23.3	161632937	161647812	FCGR2B	FCGR2B-005	HGNC Symbol	HGNC transcript name	9	44.75	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2213	3618	FCGR2B	NM_001002274	27511

MSeqDR Master Exome Data Set M1: 206 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	1	161641187	C	T	ENST00000236937	ENSG00000072694	161551101	161648444	ENSP00000236937	FCGR2B	1	FCG2B_HUMAN	c.139C>T	p.P47S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
2	1	161641187	C	T	ENST00000358671	ENSG00000072694	161551101	161648444	ENSP00000351497	FCGR2B	1	FCG2B_HUMAN	c.139C>T	p.P47S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
3	1	161641187	C	T	ENST00000367960	ENSG00000072694	161551101	161648444	ENSP00000356937	FCGR2B	1	FCG2B_HUMAN	c.118C>T	p.P40S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
4	1	161641187	C	T	ENST00000367961	ENSG00000072694	161551101	161648444	ENSP00000356938	FCGR2B	1	FCG2B_HUMAN	c.118C>T	p.P40S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
5	1	161641187	C	T	ENST00000367962	ENSG00000072694	161551101	161648444	ENSP00000356939	FCGR2B	1	FCG2B_HUMAN	c.139C>T	p.P47S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
6	1	161641187	C	T	ENST00000403078	ENSG00000072694	161551101	161648444	ENSP00000386038	FCGR2B	1	FCG2B_HUMAN	c.139C>T	p.P47S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
7	1	161641187	C	T	ENST00000428605	ENSG00000072694	161551101	161648444	ENSP00000404329	FCGR2B	1	-	c.139C>T	p.P47S	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
8	1	161641187	C	T	ENST00000480308	ENSG00000072694	161551101	161648444	-	FCGR2B	1	-	c.189C>T	p.L63L	syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
9	1	161641187	C	T	ENST00000485778	ENSG00000072694	161551101	161648444	-	FCGR2B	1	-	c.182C>T	p.S61F	non-syn	rs149249317	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	TOLERATED	B	-	het	2
10	1	161641237	G	A	ENST00000236937	ENSG00000072694	161551101	161648444	ENSP00000236937	FCGR2B	1	FCG2B_HUMAN	c.189G>A	p.Q63Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
11	1	161641237	G	A	ENST00000358671	ENSG00000072694	161551101	161648444	ENSP00000351497	FCGR2B	1	FCG2B_HUMAN	c.189G>A	p.Q63Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
12	1	161641237	G	A	ENST00000367960	ENSG00000072694	161551101	161648444	ENSP00000356937	FCGR2B	1	FCG2B_HUMAN	c.168G>A	p.Q56Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
13	1	161641237	G	A	ENST00000367961	ENSG00000072694	161551101	161648444	ENSP00000356938	FCGR2B	1	FCG2B_HUMAN	c.168G>A	p.Q56Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
14	1	161641237	G	A	ENST00000367962	ENSG00000072694	161551101	161648444	ENSP00000356939	FCGR2B	1	FCG2B_HUMAN	c.189G>A	p.Q63Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
15	1	161641237	G	A	ENST00000403078	ENSG00000072694	161551101	161648444	ENSP00000386038	FCGR2B	1	FCG2B_HUMAN	c.189G>A	p.Q63Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
16	1	161641237	G	A	ENST00000428605	ENSG00000072694	161551101	161648444	ENSP00000404329	FCGR2B	1	-	c.189G>A	p.Q63Q	syn	rs5017568	0.0015	-	-	-	-	-	het	9
17	1	161641237	G	A	ENST00000480308	ENSG00000072694	161551101	161648444	-	FCGR2B	1	-	c.239G>A	p.R80K	non-syn	rs5017568	0.0015	-	-	-	-	-	het	9
18	1	161641237	G	A	ENST00000485778	ENSG00000072694	161551101	161648444	-	FCGR2B	1	-	c.232G>A	p.G78R	non-syn	rs5017568	0.0015	-	-	-	-	-	het	9
19	1	161641267	G	A	ENST00000236937	ENSG00000072694	161551101	161648444	ENSP00000236937	FCGR2B	1	FCG2B_HUMAN	c.219G>A	p.G73G	syn	rs144573139	0.0063	A=63/G=8537;A=2/G=4404;A=65/G=12941	-	-	-	-	het	8
20	1	161641267	G	A	ENST00000358671	ENSG00000072694	161551101	161648444	ENSP00000351497	FCGR2B	1	FCG2B_HUMAN	c.219G>A	p.G73G	syn	rs144573139	0.0063	A=63/G=8537;A=2/G=4404;A=65/G=12941	-	-	-	-	het	8

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FCGR2B 1:161551101..161648444 region Gbrowse