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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 POLH:

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
ENSG00000170734	POLH	0	0	7	ENSG00000170734	ENST00000372236	ENSP00000361310	polymerase (DNA directed), eta [Source:HGNC Symbol;Acc:9181]	6	43543887	43586701	1	p21.1	43543887	43583397	POLH	POLH-001	HGNC Symbol	HGNC transcript name	4	43.76	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5429	9181	POLH	NM_006502	27515

MSeqDR Master Exome Data Set M1: 101 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	6	43550096	A	G	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	c.40A>G	p.M14V	non-syn	rs61748656	-	-	lod=653:662	DAMAGING	D	-	het	2
2	6	43550096	A	G	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	c.40A>G	p.M14V	non-syn	rs61748656	-	-	lod=653:662	DAMAGING	D	-	het	2
3	6	43550209	A	T	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	-	-	+16bp 5'_splice_site	rs2307458	0.0385	T=0/A=8600;T=199/A=4207;T=199/A=12807	-	-	-	-	het	3
4	6	43550209	A	T	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	-	-	+16bp 5'_splice_site	rs2307458	0.0385	T=0/A=8600;T=199/A=4207;T=199/A=12807	-	-	-	-	het	3
5	6	43555086	C	T	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	c.350C>T	p.A117V	non-syn	NA	-	-	lod=538:641	DAMAGING	B	-	het	2
6	6	43555086	C	T	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	c.350C>T	p.A117V	non-syn	NA	-	-	lod=538:641	DAMAGING	B	-	het	2
7	6	43555086	C	T	ENST00000443535	ENSG00000170734	43543887	43586701	ENSP00000405320	POLH	1	-	c.164C>T	p.A55V	non-syn	NA	-	-	lod=538:641	DAMAGING	B	-	het	2
8	6	43555086	C	T	ENST00000535400	ENSG00000170734	43543887	43586701	ENSP00000442102	POLH	1	-	c.164C>T	p.A55V	non-syn	NA	-	-	lod=538:641	DAMAGING	B	-	het	2
9	6	43555149	C	T	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	c.413C>T	p.S138L	non-syn	rs142827517	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	B	-	het	2
10	6	43555149	C	T	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	c.413C>T	p.S138L	non-syn	rs142827517	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	B	-	het	2
11	6	43555149	C	T	ENST00000535400	ENSG00000170734	43543887	43586701	ENSP00000442102	POLH	1	-	c.227C>T	p.S76L	non-syn	rs142827517	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	B	-	het	2
12	6	43555183	G	T	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	c.447G>T	p.G149G	syn	rs2307464	0.0169	T=0/G=8600;T=83/G=4323;T=83/G=12923	lod=90:450	-	-	-	het	2
13	6	43555183	G	T	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	c.447G>T	p.G149G	syn	rs2307464	0.0169	T=0/G=8600;T=83/G=4323;T=83/G=12923	lod=90:450	-	-	-	het	2
14	6	43555183	G	T	ENST00000535400	ENSG00000170734	43543887	43586701	ENSP00000442102	POLH	1	-	c.261G>T	p.G87G	syn	rs2307464	0.0169	T=0/G=8600;T=83/G=4323;T=83/G=12923	lod=90:450	-	-	-	het	2
15	6	43565546	G	C	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	c.604G>C	p.A202P	non-syn	NA	-	-	lod=291:576	DAMAGING	B	-	het	1
16	6	43565546	G	C	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	c.604G>C	p.A202P	non-syn	NA	-	-	lod=291:576	DAMAGING	B	-	het	1
17	6	43565546	G	C	ENST00000535400	ENSG00000170734	43543887	43586701	ENSP00000442102	POLH	1	-	c.418G>C	p.A140P	non-syn	NA	-	-	lod=291:576	DAMAGING	B	-	het	1
18	6	43565568	G	T	ENST00000372226	ENSG00000170734	43543887	43586701	ENSP00000361300	POLH	1	POLH_HUMAN	c.626G>T	p.G209V	non-syn	rs2307456	0.00947	T=29/G=8571;T=0/G=4406;T=29/G=12977	lod=15:259	DAMAGING	P	-	het	1
19	6	43565568	G	T	ENST00000372236	ENSG00000170734	43543887	43586701	ENSP00000361310	POLH	1	POLH_HUMAN	c.626G>T	p.G209V	non-syn	rs2307456	0.00947	T=29/G=8571;T=0/G=4406;T=29/G=12977	lod=15:259	DAMAGING	P	-	het	1
20	6	43565568	G	T	ENST00000535400	ENSG00000170734	43543887	43586701	ENSP00000442102	POLH	1	-	c.440G>T	p.G147V	non-syn	rs2307456	0.00947	T=29/G=8571;T=0/G=4406;T=29/G=12977	lod=15:259	DAMAGING	P	-	het	1

** 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 POLH 6:43543887..43586701 region Gbrowse