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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 COL2A1:

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
ENSG00000139219	COL2A1	1	4	84	ENSG00000139219	ENST00000380518	ENSP00000369889	collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]	12	48366748	48398269	-1	q13.11	48366748	48398269	COL2A1	COL2A1-001	HGNC Symbol	HGNC transcript name	9	55.34	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1280	2200	COL2A1	NM_033150	27519

MSeqDR Master Exome Data Set M1: 342 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	12	48366885	C	T	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	NA	-	-	lod=773:680	-	-	-	het	8
2	12	48366895	G	A	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	rs41272781	0.0372	-	lod=773:680	-	-	-	het	6
3	12	48366905	C	-AG	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	NA	-	-	lod=773:680	-	-	-	het	1
4	12	48366950	G	C	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	NA	-	-	lod=773:680	-	-	-	het	1
5	12	48367054	G	A	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	rs41272777	0.05083	-	lod=773:680	-	-	-	hom	5
6	12	48367054	G	A	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	rs41272777	0.05083	-	lod=773:680	-	-	-	het	117
7	12	48367054	G	A	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3686C>T	p.S1229L	non-syn	rs41272777	0.05083	-	lod=773:680	-	-	-	hom	5
8	12	48367054	G	A	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3686C>T	p.S1229L	non-syn	rs41272777	0.05083	-	lod=773:680	-	-	-	het	117
9	12	48367092	G	T	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	NA	-	-	lod=773:680	-	-	-	het	3
10	12	48367092	G	T	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3648C>A	p.D1216E	non-syn	NA	-	-	lod=773:680	-	-	-	het	3
11	12	48367162	G	A	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	rs41272775	0.0339	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
12	12	48367162	G	A	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3578C>T	p.P1193L	non-syn	rs41272775	0.0339	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
13	12	48367186	G	A	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	rs41272773	0.0374	A=51/G=8549;A=274/G=4132;A=325/G=12681	lod=136:494	-	-	-	het	24
14	12	48367186	G	A	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	-	-	3'_UTR	rs41272773	0.0374	A=51/G=8549;A=274/G=4132;A=325/G=12681	lod=136:494	-	-	-	hom	2
15	12	48367186	G	A	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3554C>T	p.T1185I	non-syn	rs41272773	0.0374	A=51/G=8549;A=274/G=4132;A=325/G=12681	lod=136:494	-	-	-	het	24
16	12	48367186	G	A	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3554C>T	p.T1185I	non-syn	rs41272773	0.0374	A=51/G=8549;A=274/G=4132;A=325/G=12681	lod=136:494	-	-	-	hom	2
17	12	48367205	C	T	ENST00000337299	ENSG00000139219	48366748	48398269	ENSP00000338213	COL2A1	-1	CO2A1_HUMAN	c.4242G>A	p.P1414P	syn	rs41272771	0.0029	T=0/C=8600;T=55/C=4351;T=55/C=12951	lod=474:628	-	-	-	het	2
18	12	48367205	C	T	ENST00000380518	ENSG00000139219	48366748	48398269	ENSP00000369889	COL2A1	-1	CO2A1_HUMAN	c.4449G>A	p.P1483P	syn	rs41272771	0.0029	T=0/C=8600;T=55/C=4351;T=55/C=12951	lod=474:628	-	-	-	het	2
19	12	48367205	C	T	ENST00000493991	ENSG00000139219	48366748	48398269	-	COL2A1	-1	-	c.3535G>A	p.G1179S	non-syn	rs41272771	0.0029	T=0/C=8600;T=55/C=4351;T=55/C=12951	lod=474:628	-	-	-	het	2
20	12	48367240	C	A	ENST00000337299	ENSG00000139219	48366748	48398269	ENSP00000338213	COL2A1	-1	CO2A1_HUMAN	c.4207G>T	p.G1403W	non-syn	NA	-	-	lod=474:628	DAMAGING	NA	-	het	1

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Transcripts and variants in the surrounding COL2A1 12:48366748..48398269 region Gbrowse