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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 PTGDR:

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
ENSG00000168229	PTGDR	0	0	0	ENSG00000168229	ENST00000306051	ENSP00000303424	prostaglandin D2 receptor (DP) [Source:HGNC Symbol;Acc:9591]	14	52734431	52743442	1	q22.1	52734431	52743442	PTGDR	PTGDR-001	HGNC Symbol	HGNC transcript name	2	43.9	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5729	9591	PTGDR	NM_000953	27520

MSeqDR Master Exome Data Set M1: 66 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	14	52734438	G	T	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	rs41311438	0.0251	-	-	-	-	-	het	20
2	14	52734441	G	A	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	rs199923439	-	-	-	-	-	-	het	1
3	14	52734443	G	A	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	14	52734460	G	A	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	rs41311440	0.0025	-	-	-	-	-	het	1
5	14	52734480	C	T	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	14	52734517	T	C	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	rs202170487	-	C=8/T=8586;C=3/T=4401;C=11/T=12987	-	-	-	-	het	2
7	14	52734531	C	T	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	-	-	5'_UTR	rs145500408	0.0136	T=4/C=8594;T=1/C=4403;T=5/C=12997	-	-	-	-	het	5
8	14	52734531	C	T	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	-	-	5'_UTR	rs145500408	0.0136	T=4/C=8594;T=1/C=4403;T=5/C=12997	-	-	-	-	het	5
9	14	52734551	C	T	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	c.19C>T	p.R7C	non-syn	rs41311442	0.0412	T=5/C=8595;T=149/C=4257;T=154/C=12852	lod=20:289	DAMAGING	D	-	het	1
10	14	52734551	C	T	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	c.19C>T	p.R7C	non-syn	rs41311442	0.0412	T=5/C=8595;T=149/C=4257;T=154/C=12852	lod=20:289	DAMAGING	D	-	het	1
11	14	52734696	G	A	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	c.164G>A	p.R55H	non-syn	rs141831512	-	A=11/G=8589;A=1/G=4405;A=12/G=12994	-	TOLERATED	B	-	het	8
12	14	52734696	G	A	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	c.164G>A	p.R55H	non-syn	rs141831512	-	A=11/G=8589;A=1/G=4405;A=12/G=12994	-	TOLERATED	B	-	het	8
13	14	52734707	T	G	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	c.175T>G	p.S59A	non-syn	NA	-	-	lod=261:564	DAMAGING	D	-	het	1
14	14	52734707	T	G	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	c.175T>G	p.S59A	non-syn	NA	-	-	lod=261:564	DAMAGING	D	-	het	1
15	14	52734827	G	C	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	c.295G>C	p.A99P	non-syn	rs201329588	-	-	-	TOLERATED	B	-	het	1
16	14	52734827	G	C	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	c.295G>C	p.A99P	non-syn	rs201329588	-	-	-	TOLERATED	B	-	het	1
17	14	52734994	G	A	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	c.462G>A	p.P154P	syn	rs201634822	-	-	-	-	-	-	het	2
18	14	52734994	G	A	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	c.462G>A	p.P154P	syn	rs201634822	-	-	-	-	-	-	het	2
19	14	52735048	G	A	ENST00000306051	ENSG00000168229	52734431	52743442	ENSP00000303424	PTGDR	1	PD2R_HUMAN	c.516G>A	p.G172G	syn	rs200739863	-	-	lod=47:381	-	-	-	het	1
20	14	52735048	G	A	ENST00000553372	ENSG00000168229	52734431	52743442	ENSP00000452408	PTGDR	1	-	c.516G>A	p.G172G	syn	rs200739863	-	-	lod=47:381	-	-	-	het	1

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Transcripts and variants in the surrounding PTGDR 14:52734431..52743442 region Gbrowse