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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 BCS1L:

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
ENSG00000074582	BCS1L	1	127	36	ENSG00000074582	ENST00000392111	ENSP00000375959	BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]	2	219523487	219528166	1	q35	219524458	219528166	BCS1L	BCS1L-007	HGNC Symbol	HGNC transcript name	20	54.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	617	1020	BCS1L		27508

MSeqDR Master Exome Data Set M1: 159 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	2	219525668	G	A	ENST00000359273	ENSG00000074582	219523487	219528166	ENSP00000352219	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
2	2	219525668	G	A	ENST00000392109	ENSG00000074582	219523487	219528166	ENSP00000375957	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
3	2	219525668	G	A	ENST00000392110	ENSG00000074582	219523487	219528166	ENSP00000375958	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
4	2	219525668	G	A	ENST00000392111	ENSG00000074582	219523487	219528166	ENSP00000375959	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
5	2	219525668	G	A	ENST00000412366	ENSG00000074582	219523487	219528166	ENSP00000406494	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
6	2	219525668	G	A	ENST00000423377	ENSG00000074582	219523487	219528166	ENSP00000397293	BCS1L	1	-	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
7	2	219525668	G	A	ENST00000428880	ENSG00000074582	219523487	219528166	ENSP00000391007	BCS1L	1	-	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
8	2	219525668	G	A	ENST00000430322	ENSG00000074582	219523487	219528166	ENSP00000398957	BCS1L	1	-	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
9	2	219525668	G	A	ENST00000431802	ENSG00000074582	219523487	219528166	ENSP00000413908	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
10	2	219525668	G	A	ENST00000439945	ENSG00000074582	219523487	219528166	ENSP00000404999	BCS1L	1	BCS1_HUMAN	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
11	2	219525668	G	A	ENST00000456050	ENSG00000074582	219523487	219528166	ENSP00000395440	BCS1L	1	-	-	-	5'_UTR	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
12	2	219525668	G	A	ENST00000493376	ENSG00000074582	219523487	219528166	-	BCS1L	1	-	c.79G>A	p.V27I	non-syn	rs145989550	0.00095	A=17/G=8307;A=0/G=4196;A=17/G=12503	-	-	-	-	het	7
13	2	219525836	A	G	ENST00000359273	ENSG00000074582	219523487	219528166	ENSP00000352219	BCS1L	1	BCS1_HUMAN	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
14	2	219525836	A	G	ENST00000392109	ENSG00000074582	219523487	219528166	ENSP00000375957	BCS1L	1	BCS1_HUMAN	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
15	2	219525836	A	G	ENST00000392110	ENSG00000074582	219523487	219528166	ENSP00000375958	BCS1L	1	BCS1_HUMAN	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
16	2	219525836	A	G	ENST00000392111	ENSG00000074582	219523487	219528166	ENSP00000375959	BCS1L	1	BCS1_HUMAN	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
17	2	219525836	A	G	ENST00000412366	ENSG00000074582	219523487	219528166	ENSP00000406494	BCS1L	1	BCS1_HUMAN	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
18	2	219525836	A	G	ENST00000423377	ENSG00000074582	219523487	219528166	ENSP00000397293	BCS1L	1	-	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
19	2	219525836	A	G	ENST00000428880	ENSG00000074582	219523487	219528166	ENSP00000391007	BCS1L	1	-	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	het	1
20	2	219525836	A	G	ENST00000430322	ENSG00000074582	219523487	219528166	ENSP00000398957	BCS1L	1	-	c.126A>G	p.A42A	syn	rs144200704	-	G=5/A=8595;G=0/A=4406;G=5/A=13001	lod=674:665	-	-	-	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 BCS1L 2:219523487..219528166 region Gbrowse