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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 MPO:

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
ENSG00000005381	MPO	0	0	9	ENSG00000005381	ENST00000225275	ENSP00000225275	myeloperoxidase [Source:HGNC Symbol;Acc:7218]	17	56347217	56358296	-1	q22	56347217	56358296	MPO	MPO-001	HGNC Symbol	HGNC transcript name	6	55.13	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4353	7218	MPO	NM_000250	27509

MSeqDR Master Exome Data Set M1: 93 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	17	56348106	T	C	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	c.2149A>G	p.I717V	non-syn	rs2759	0.0269	C=246/T=8354;C=48/T=4358;C=294/T=12712	lod=101:462	TOLERATED	B	-	het	58
2	17	56348106	T	C	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	c.2245A>G	p.I749V	non-syn	rs2759	0.0269	C=246/T=8354;C=48/T=4358;C=294/T=12712	lod=101:462	TOLERATED	B	-	het	58
3	17	56348106	T	C	ENST00000577220	ENSG00000005381	56347217	56358296	ENSP00000464668	MPO	-1	-	c.244A>G	p.I82V	non-syn	rs2759	0.0269	C=246/T=8354;C=48/T=4358;C=294/T=12712	lod=101:462	TOLERATED	B	-	het	58
4	17	56348122	G	A	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	c.2133C>T	p.T711T	syn	rs61747608	0.00186	A=37/G=8563;A=4/G=4402;A=41/G=12965	-	-	-	-	het	11
5	17	56348122	G	A	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	c.2229C>T	p.T743T	syn	rs61747608	0.00186	A=37/G=8563;A=4/G=4402;A=41/G=12965	-	-	-	-	het	11
6	17	56348122	G	A	ENST00000577220	ENSG00000005381	56347217	56358296	ENSP00000464668	MPO	-1	-	c.228C>T	p.T76T	syn	rs61747608	0.00186	A=37/G=8563;A=4/G=4402;A=41/G=12965	-	-	-	-	het	11
7	17	56348226	T	G	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	-	-	-2bp 3'_splice_site	rs35897051	0.00196	G=62/T=8538;G=6/T=4400;G=68/T=12938	lod=101:462	-	-	HGMD	het	5
8	17	56348226	T	G	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	-	-	-2bp 3'_splice_site	rs35897051	0.00196	G=62/T=8538;G=6/T=4400;G=68/T=12938	lod=101:462	-	-	HGMD	het	5
9	17	56348230	T	G	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	-	-	-6bp 3'_splice_site	rs2071409	0.13261	G=1378/T=7222;G=635/T=3771;G=2013/T=10993	-	-	-	-	het	176
10	17	56348230	T	G	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	-	-	-6bp 3'_splice_site	rs2071409	0.13261	G=1378/T=7222;G=635/T=3771;G=2013/T=10993	-	-	-	-	hom	22
11	17	56348230	T	G	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	-	-	-6bp 3'_splice_site	rs2071409	0.13261	G=1378/T=7222;G=635/T=3771;G=2013/T=10993	-	-	-	-	het	176
12	17	56348230	T	G	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	-	-	-6bp 3'_splice_site	rs2071409	0.13261	G=1378/T=7222;G=635/T=3771;G=2013/T=10993	-	-	-	-	hom	22
13	17	56348997	G	A	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	-	-	+19bp 5'_splice_site	rs6503857	0.0739	A=2/G=8596;A=363/G=4043;A=365/G=12639	-	-	-	-	het	4
14	17	56348997	G	A	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	-	-	+19bp 5'_splice_site	rs6503857	0.0739	A=2/G=8596;A=363/G=4043;A=365/G=12639	-	-	-	-	het	4
15	17	56349050	C	A	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	c.1996G>T	p.G666C	non-syn	NA	-	-	lod=103:464	DAMAGING	D	-	het	2
16	17	56349050	C	A	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	c.2092G>T	p.G698C	non-syn	NA	-	-	lod=103:464	DAMAGING	D	-	het	2
17	17	56349122	T	G	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	c.1924A>C	p.I642L	non-syn	rs112737382	-	G=29/T=8571;G=5/T=4401;G=34/T=12972	lod=105:467	TOLERATED	B	-	het	7
18	17	56349122	T	G	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	c.2020A>C	p.I674L	non-syn	rs112737382	-	G=29/T=8571;G=5/T=4401;G=34/T=12972	lod=105:467	TOLERATED	B	-	het	7
19	17	56349128	T	C	ENST00000225275	ENSG00000005381	56347217	56358296	ENSP00000225275	MPO	-1	PERM_HUMAN	c.1918A>G	p.I640V	non-syn	rs143204664	-	C=4/T=8596;C=0/T=4406;C=4/T=13002	lod=52:391	DAMAGING	D	-	het	1
20	17	56349128	T	C	ENST00000340482	ENSG00000005381	56347217	56358296	ENSP00000344419	MPO	-1	PERM_HUMAN	c.2014A>G	p.I672V	non-syn	rs143204664	-	C=4/T=8596;C=0/T=4406;C=4/T=13002	lod=52:391	DAMAGING	D	-	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 MPO 17:56347217..56358296 region Gbrowse