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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 COL4A3:

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
ENSG00000169031	COL4A3	1	0	1	ENSG00000169031	ENST00000396578	ENSP00000379823	collagen, type IV, alpha 3 (Goodpasture antigen) [Source:HGNC Symbol;Acc:2204]	2	228029281	228179508	1	q36.3	228029281	228179508	COL4A3	COL4A3-001	HGNC Symbol	HGNC transcript name	6	39.87	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1285	2204	COL4A3	NM_000091	27508

MSeqDR Master Exome Data Set M1: 156 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	228102680	C	T	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	-	-	-4bp 3'_splice_site	rs148393022	0.034	T=9/C=8155;T=8/C=3666;T=17/C=11821	-	-	-	-	het	6
2	2	228102723	G	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.127G>C	p.G43R	non-syn	rs13424243	0.32189	C=3032/G=5134;C=1134/G=2566;C=4166/G=7700	-	DAMAGING	NA	-	het	396
3	2	228102723	G	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.127G>C	p.G43R	non-syn	rs13424243	0.32189	C=3032/G=5134;C=1134/G=2566;C=4166/G=7700	-	DAMAGING	NA	-	hom	128
4	2	228102752	C	A	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	-	-	+12bp 5'_splice_site	rs1882435	0.3844	A=2409/C=5763;A=967/C=2715;A=3376/C=8478	-	-	-	-	het	362
5	2	228102752	C	A	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	-	-	+12bp 5'_splice_site	rs1882435	0.3844	A=2409/C=5763;A=967/C=2715;A=3376/C=8478	-	-	-	-	hom	83
6	2	228104936	G	T	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.222G>T	p.P74P	syn	NA	-	T=12/G=8226;T=3/G=3815;T=15/G=12041	-	-	-	-	het	2
7	2	228104936	G	T	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.222G>T	p.P74P	syn	NA	-	T=12/G=8226;T=3/G=3815;T=15/G=12041	-	-	-	-	hom	1
8	2	228104946	A	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.232A>C	p.K78Q	non-syn	NA	-	-	lod=51:389	TOLERATED	NA	-	het	1
9	2	228109061	C	T	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.260C>T	p.T87M	non-syn	NA	-	T=0/C=8166;T=1/C=3687;T=1/C=11853	lod=84:443	TOLERATED	NA	-	het	1
10	2	228109062	G	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.261G>C	p.T87T	syn	NA	-	C=2/G=8166;C=0/G=3696;C=2/G=11862	lod=84:443	-	-	-	het	1
11	2	228110691	C	A	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.346C>A	p.P116T	non-syn	rs115324397	0.00734	A=91/C=8165;A=13/C=3831;A=104/C=11996	lod=17:272	TOLERATED	NA	-	het	11
12	2	228111412	G	A	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.399G>A	p.G133G	syn	rs75683214	0.0705	A=0/G=8168;A=272/G=3404;A=272/G=11572	lod=49:385	-	-	-	het	6
13	2	228111435	T	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.422T>C	p.L141P	non-syn	rs10178458	0.84544	C=6759/T=1407;C=2369/T=1313;C=9128/T=2720	lod=51:389	TOLERATED	NA	-	het	336
14	2	228111435	T	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.422T>C	p.L141P	non-syn	rs10178458	0.84544	C=6759/T=1407;C=2369/T=1313;C=9128/T=2720	lod=51:389	TOLERATED	NA	-	hom	680
15	2	228113175	A	G	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.485A>G	p.E162G	non-syn	rs6436669	0.84799	G=6760/A=1404;G=2326/A=1308;G=9086/A=2712	lod=30:333	TOLERATED	NA	-	het	332
16	2	228113175	A	G	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.485A>G	p.E162G	non-syn	rs6436669	0.84799	G=6760/A=1404;G=2326/A=1308;G=9086/A=2712	lod=30:333	TOLERATED	NA	-	hom	681
17	2	228115847	A	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	-	-	-9bp 3'_splice_site	rs55667591	0.04554	C=103/A=8043;C=10/A=3604;C=113/A=11647	-	-	-	-	het	32
18	2	228115847	A	C	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	-	-	-9bp 3'_splice_site	rs55667591	0.04554	C=103/A=8043;C=10/A=3604;C=113/A=11647	-	-	-	-	hom	2
19	2	228118306	A	G	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	c.717A>G	p.G239G	syn	NA	-	G=1/A=8215;G=0/A=3786;G=1/A=12001	lod=131:490	-	-	-	het	2
20	2	228118815	G	A	ENST00000396578	ENSG00000169031	228029281	228179508	ENSP00000379823	COL4A3	1	CO4A3_HUMAN	-	-	-13bp 3'_splice_site	rs77431913	0.119	A=17/G=8227;A=262/G=3512;A=279/G=11739	lod=77:433	-	-	-	het	20

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Transcripts and variants in the surrounding COL4A3 2:228029281..228179508 region Gbrowse