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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 COL6A2:

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
ENSG00000142173	COL6A2	1	1	144	ENSG00000142173	ENST00000300527	ENSP00000300527	collagen, type VI, alpha 2 [Source:HGNC Symbol;Acc:2212]	21	47518011	47552763	1	q22.3	47518011	47552763	COL6A2	COL6A2-001	HGNC Symbol	HGNC transcript name	9	55.88	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1292	2212	COL6A2	NM_001849	27505

MSeqDR Master Exome Data Set M1: 651 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	47531343	C	T	ENST00000409416	ENSG00000142173	47518011	47552763	ENSP00000387115	COL6A2	1	CO6A2_HUMAN	-	-	5'_UTR	NA	-	T=0/C=8586;T=11/C=4377;T=11/C=12963	-	-	-	-	het	1
2	21	47531511	A	-GGGGTCG	ENST00000300527	ENSG00000142173	47518011	47552763	ENSP00000300527	COL6A2	1	CO6A2_HUMAN	-	-	+6bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
3	21	47531511	A	-GGGGTCG	ENST00000310645	ENSG00000142173	47518011	47552763	ENSP00000312529	COL6A2	1	CO6A2_HUMAN	-	-	+6bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
4	21	47531511	A	-GGGGTCG	ENST00000357838	ENSG00000142173	47518011	47552763	ENSP00000350497	COL6A2	1	CO6A2_HUMAN	-	-	+6bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
5	21	47531511	A	-GGGGTCG	ENST00000397763	ENSG00000142173	47518011	47552763	ENSP00000380870	COL6A2	1	CO6A2_HUMAN	-	-	+6bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
6	21	47531511	A	-GGGGTCG	ENST00000409416	ENSG00000142173	47518011	47552763	ENSP00000387115	COL6A2	1	CO6A2_HUMAN	-	-	+6bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
7	21	47531511	A	-GGGGTCG	ENST00000436769	ENSG00000142173	47518011	47552763	ENSP00000390418	COL6A2	1	-	-	-	+6bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
8	21	47532093	G	A	ENST00000300527	ENSG00000142173	47518011	47552763	ENSP00000300527	COL6A2	1	CO6A2_HUMAN	c.316G>A	p.E106K	non-syn	rs141703710	0.0042	A=90/G=8510;A=10/G=4396;A=100/G=12906	lod=251:560	TOLERATED	D	HGMD	het	15
9	21	47532093	G	A	ENST00000310645	ENSG00000142173	47518011	47552763	ENSP00000312529	COL6A2	1	CO6A2_HUMAN	c.316G>A	p.E106K	non-syn	rs141703710	0.0042	A=90/G=8510;A=10/G=4396;A=100/G=12906	lod=251:560	TOLERATED	D	HGMD	het	15
10	21	47532093	G	A	ENST00000357838	ENSG00000142173	47518011	47552763	ENSP00000350497	COL6A2	1	CO6A2_HUMAN	c.316G>A	p.E106K	non-syn	rs141703710	0.0042	A=90/G=8510;A=10/G=4396;A=100/G=12906	lod=251:560	TOLERATED	D	HGMD	het	15
11	21	47532093	G	A	ENST00000397763	ENSG00000142173	47518011	47552763	ENSP00000380870	COL6A2	1	CO6A2_HUMAN	c.316G>A	p.E106K	non-syn	rs141703710	0.0042	A=90/G=8510;A=10/G=4396;A=100/G=12906	lod=251:560	TOLERATED	D	HGMD	het	15
12	21	47532093	G	A	ENST00000409416	ENSG00000142173	47518011	47552763	ENSP00000387115	COL6A2	1	CO6A2_HUMAN	c.316G>A	p.E106K	non-syn	rs141703710	0.0042	A=90/G=8510;A=10/G=4396;A=100/G=12906	lod=251:560	TOLERATED	D	HGMD	het	15
13	21	47532093	G	A	ENST00000436769	ENSG00000142173	47518011	47552763	ENSP00000390418	COL6A2	1	-	c.316G>A	p.E106K	non-syn	rs141703710	0.0042	A=90/G=8510;A=10/G=4396;A=100/G=12906	lod=251:560	TOLERATED	D	HGMD	het	15
14	21	47532287	C	T	ENST00000300527	ENSG00000142173	47518011	47552763	ENSP00000300527	COL6A2	1	CO6A2_HUMAN	c.510C>T	p.C170C	syn	rs142328765	0.0068	T=39/C=8337;T=3/C=4265;T=42/C=12602	lod=136:494	-	-	-	het	9
15	21	47532287	C	T	ENST00000310645	ENSG00000142173	47518011	47552763	ENSP00000312529	COL6A2	1	CO6A2_HUMAN	c.510C>T	p.C170C	syn	rs142328765	0.0068	T=39/C=8337;T=3/C=4265;T=42/C=12602	lod=136:494	-	-	-	het	9
16	21	47532287	C	T	ENST00000357838	ENSG00000142173	47518011	47552763	ENSP00000350497	COL6A2	1	CO6A2_HUMAN	c.510C>T	p.C170C	syn	rs142328765	0.0068	T=39/C=8337;T=3/C=4265;T=42/C=12602	lod=136:494	-	-	-	het	9
17	21	47532287	C	T	ENST00000397763	ENSG00000142173	47518011	47552763	ENSP00000380870	COL6A2	1	CO6A2_HUMAN	c.510C>T	p.C170C	syn	rs142328765	0.0068	T=39/C=8337;T=3/C=4265;T=42/C=12602	lod=136:494	-	-	-	het	9
18	21	47532287	C	T	ENST00000409416	ENSG00000142173	47518011	47552763	ENSP00000387115	COL6A2	1	CO6A2_HUMAN	c.510C>T	p.C170C	syn	rs142328765	0.0068	T=39/C=8337;T=3/C=4265;T=42/C=12602	lod=136:494	-	-	-	het	9
19	21	47532287	C	T	ENST00000436769	ENSG00000142173	47518011	47552763	ENSP00000390418	COL6A2	1	-	c.510C>T	p.C170C	syn	rs142328765	0.0068	T=39/C=8337;T=3/C=4265;T=42/C=12602	lod=136:494	-	-	-	het	9
20	21	47532288	G	A	ENST00000300527	ENSG00000142173	47518011	47552763	ENSP00000300527	COL6A2	1	CO6A2_HUMAN	c.511G>A	p.G171R	non-syn	rs200710788	-	A=7/G=8393;A=0/G=4298;A=7/G=12691	lod=136:494	DAMAGING	D	-	het	2

** 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 COL6A2 21:47518011..47552763 region Gbrowse