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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 COL6A1:

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
ENSG00000142156	COL6A1	0	0	155	ENSG00000142156	ENST00000361866	ENSP00000355180	collagen, type VI, alpha 1 [Source:HGNC Symbol;Acc:2211]	21	47401651	47424964	1	q22.3	47401651	47424964	COL6A1	COL6A1-001	HGNC Symbol	HGNC transcript name	6	64.67	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1291	2211	COL6A1	NM_001848	27505

MSeqDR Master Exome Data Set M1: 323 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	21	47401760	C	G	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	5'_UTR	rs7671	0.5145	G=4234/C=4230;G=1222/C=3052;G=5456/C=7282	-	-	-	-	hom	243
2	21	47401760	C	G	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	5'_UTR	rs7671	0.5145	G=4234/C=4230;G=1222/C=3052;G=5456/C=7282	-	-	-	-	het	275
3	21	47401881	G	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	+20bp 5'_splice_site	rs114178849	0.0314	A=9/G=8533;A=181/G=4141;A=190/G=12674	-	-	-	-	het	9
4	21	47402555	C	G	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.105C>G	p.P35P	syn	rs145579577	-	G=14/C=8586;G=0/C=4398;G=14/C=12984	lod=335:591	-	-	-	het	4
5	21	47402652	C	T	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.202C>T	p.R68C	non-syn	rs137964147	-	T=4/C=8596;T=2/C=4400;T=6/C=12996	-	DAMAGING	D	-	het	2
6	21	47402688	C	T	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	+11bp 5'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
7	21	47404279	C	T	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.324C>T	p.G108G	syn	rs138646508	-	T=13/C=8581;T=3/C=4399;T=16/C=12980	-	-	-	-	het	2
8	21	47404284	G	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.329G>A	p.R110H	non-syn	NA	-	-	-	DAMAGING	D	-	het	2
9	21	47404302	G	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.347G>A	p.S116N	non-syn	rs11553519	0.0424	A=406/G=8190;A=125/G=4281;A=531/G=12471	-	TOLERATED	P	Bethlem myopathy	het	115
10	21	47404302	G	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.347G>A	p.S116N	non-syn	rs11553519	0.0424	A=406/G=8190;A=125/G=4281;A=531/G=12471	-	TOLERATED	P	Bethlem myopathy	hom	5
11	21	47404303	C	T	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.348C>T	p.S116S	syn	rs189444981	0.0075	-	lod=14:251	-	-	-	het	1
12	21	47404305	T	C	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.350T>C	p.V117A	non-syn	rs138899581	-	C=15/T=8581;C=0/T=4406;C=15/T=12987	lod=14:251	DAMAGING	D	-	het	1
13	21	47404336	C	T	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.381C>T	p.T127T	syn	rs75180385	0.0048	T=0/C=8594;T=9/C=4397;T=9/C=12991	lod=145:501	-	-	-	het	1
14	21	47404397	A	G	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	+14bp 5'_splice_site	rs3746993	0.837	G=7292/A=1298;G=3919/A=479;G=11211/A=1777	-	-	-	-	het	170
15	21	47404397	A	G	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	+14bp 5'_splice_site	rs3746993	0.837	G=7292/A=1298;G=3919/A=479;G=11211/A=1777	-	-	-	-	hom	568
16	21	47406421	G	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	-19bp 3'_splice_site	rs741956	0.2225	A=1953/G=6541;A=437/G=3889;A=2390/G=10430	-	-	-	-	het	289
17	21	47406421	G	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	-19bp 3'_splice_site	rs741956	0.2225	A=1953/G=6541;A=437/G=3889;A=2390/G=10430	-	-	-	-	hom	44
18	21	47406590	C	T	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	c.579C>T	p.P193P	syn	rs61751027	0.0119	T=1/C=8195;T=43/C=4145;T=44/C=12340	lod=73:428	-	-	-	het	1
19	21	47406610	G	+C	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	+11bp 5'_splice_site	rs111710378	-	-	-	-	-	-	het	27
20	21	47406612	C	A	ENST00000361866	ENSG00000142156	47401651	47424964	ENSP00000355180	COL6A1	1	CO6A1_HUMAN	-	-	+13bp 5'_splice_site	rs754507	0.7992	-	-	-	-	-	het	111

** 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 COL6A1 21:47401651..47424964 region Gbrowse