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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 CAV3:

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
ENSG00000182533	CAV3	1	0	70	ENSG00000182533	ENST00000343849	ENSP00000341940	caveolin 3 [Source:HGNC Symbol;Acc:1529]	3	8775486	8883492	1	p25.3	8775486	8788451	CAV3	CAV3-001	HGNC Symbol	HGNC transcript name	3	43.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	859	1529	CAV3	NM_001234	27517

MSeqDR Master Exome Data Set M1: 89 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	3	8775526	G	A	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	-	-	5'_UTR	rs116840771	-	A=41/G=8559;A=8/G=4398;A=49/G=12957	-	-	-	-	het	11
2	3	8775526	G	A	ENST00000472766	ENSG00000182533	8775486	8883492	-	CAV3	1	-	c.5G>A	p.S2N	non-syn	rs116840771	-	A=41/G=8559;A=8/G=4398;A=49/G=12957	-	-	-	-	het	11
3	3	8775589	C	T	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.27C>T	p.L9L	syn	rs1974763	0.1012	T=1073/C=7527;T=117/C=4289;T=1190/C=11816	lod=80:437	-	-	-	het	177
4	3	8775589	C	T	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.27C>T	p.L9L	syn	rs1974763	0.1012	T=1073/C=7527;T=117/C=4289;T=1190/C=11816	lod=80:437	-	-	-	hom	14
5	3	8775589	C	T	ENST00000397368	ENSG00000182533	8775486	8883492	ENSP00000380525	CAV3	1	CAV3_HUMAN	c.27C>T	p.L9L	syn	rs1974763	0.1012	T=1073/C=7527;T=117/C=4289;T=1190/C=11816	lod=80:437	-	-	-	het	177
6	3	8775589	C	T	ENST00000397368	ENSG00000182533	8775486	8883492	ENSP00000380525	CAV3	1	CAV3_HUMAN	c.27C>T	p.L9L	syn	rs1974763	0.1012	T=1073/C=7527;T=117/C=4289;T=1190/C=11816	lod=80:437	-	-	-	hom	14
7	3	8775589	C	T	ENST00000472766	ENSG00000182533	8775486	8883492	-	CAV3	1	-	c.68C>T	p.S23L	non-syn	rs1974763	0.1012	T=1073/C=7527;T=117/C=4289;T=1190/C=11816	lod=80:437	-	-	-	het	177
8	3	8775589	C	T	ENST00000472766	ENSG00000182533	8775486	8883492	-	CAV3	1	-	c.68C>T	p.S23L	non-syn	rs1974763	0.1012	T=1073/C=7527;T=117/C=4289;T=1190/C=11816	lod=80:437	-	-	-	hom	14
9	3	8775602	G	A	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.40G>A	p.V14I	non-syn	rs121909281	0.0016	A=0/G=8600;A=14/G=4392;A=14/G=12992	lod=80:437	TOLERATED	B	HGMD	het	3
10	3	8775602	G	A	ENST00000397368	ENSG00000182533	8775486	8883492	ENSP00000380525	CAV3	1	CAV3_HUMAN	c.40G>A	p.V14I	non-syn	rs121909281	0.0016	A=0/G=8600;A=14/G=4392;A=14/G=12992	lod=80:437	TOLERATED	B	HGMD	het	3
11	3	8775602	G	A	ENST00000472766	ENSG00000182533	8775486	8883492	-	CAV3	1	-	c.81G>A	p.S27S	syn	rs121909281	0.0016	A=0/G=8600;A=14/G=4392;A=14/G=12992	lod=80:437	TOLERATED	B	HGMD	het	3
12	3	8775661	C	T	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.99C>T	p.N33N	syn	rs1008642	0.4984	T=2054/C=6546;T=2409/C=1997;T=4463/C=8543	lod=162:513	-	-	HGMD	het	386
13	3	8775661	C	T	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.99C>T	p.N33N	syn	rs1008642	0.4984	T=2054/C=6546;T=2409/C=1997;T=4463/C=8543	lod=162:513	-	-	HGMD	hom	80
14	3	8775661	C	T	ENST00000397368	ENSG00000182533	8775486	8883492	ENSP00000380525	CAV3	1	CAV3_HUMAN	c.99C>T	p.N33N	syn	rs1008642	0.4984	T=2054/C=6546;T=2409/C=1997;T=4463/C=8543	lod=162:513	-	-	HGMD	het	386
15	3	8775661	C	T	ENST00000397368	ENSG00000182533	8775486	8883492	ENSP00000380525	CAV3	1	CAV3_HUMAN	c.99C>T	p.N33N	syn	rs1008642	0.4984	T=2054/C=6546;T=2409/C=1997;T=4463/C=8543	lod=162:513	-	-	HGMD	hom	80
16	3	8775661	C	T	ENST00000472766	ENSG00000182533	8775486	8883492	-	CAV3	1	-	c.140C>T	p.T47M	non-syn	rs1008642	0.4984	T=2054/C=6546;T=2409/C=1997;T=4463/C=8543	lod=162:513	-	-	HGMD	het	386
17	3	8775661	C	T	ENST00000472766	ENSG00000182533	8775486	8883492	-	CAV3	1	-	c.140C>T	p.T47M	non-syn	rs1008642	0.4984	T=2054/C=6546;T=2409/C=1997;T=4463/C=8543	lod=162:513	-	-	HGMD	hom	80
18	3	8787220	T	C	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.123T>C	p.F41F	syn	rs13087941	0.1738	C=2073/T=6527;C=1251/T=3155;C=3324/T=9682	lod=123:483	-	-	-	het	268
19	3	8787220	T	C	ENST00000343849	ENSG00000182533	8775486	8883492	ENSP00000341940	CAV3	1	CAV3_HUMAN	c.123T>C	p.F41F	syn	rs13087941	0.1738	C=2073/T=6527;C=1251/T=3155;C=3324/T=9682	lod=123:483	-	-	-	hom	37
20	3	8787220	T	C	ENST00000397368	ENSG00000182533	8775486	8883492	ENSP00000380525	CAV3	1	CAV3_HUMAN	c.123T>C	p.F41F	syn	rs13087941	0.1738	C=2073/T=6527;C=1251/T=3155;C=3324/T=9682	lod=123:483	-	-	-	het	268

** 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 CAV3 3:8775486..8883492 region Gbrowse