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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 H6PD:

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
ENSG00000049239	H6PD	0	0	7	ENSG00000049239	ENST00000377403	ENSP00000366620	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) [Source:HGNC Symbol;Acc:4795]	1	9294834	9331396	1	p36.22	9294834	9331396	H6PD	H6PD-001	HGNC Symbol	HGNC transcript name	3	52.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9563	4795	H6PD	NM_004285	27511

MSeqDR Master Exome Data Set M1: 416 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	1	9304978	C	-CCCAGGCA	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	-	-	--2bp 3'_splice_site	rs139855605	-	-	lod=13:243	-	-	-	het	130
2	1	9304978	C	-CCCAGGCA	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	-	-	--2bp 3'_splice_site	rs139855605	-	-	lod=13:243	-	-	-	hom	10
3	1	9304978	C	-CCCAGGCA	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	-	-	--2bp 3'_splice_site	rs139855605	-	-	lod=13:243	-	-	-	het	130
4	1	9304978	C	-CCCAGGCA	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	-	-	--2bp 3'_splice_site	rs139855605	-	-	lod=13:243	-	-	-	hom	10
5	1	9305024	T	G	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.31T>G	p.L11V	non-syn	rs138547645	-	G=0/T=8600;G=1/T=4405;G=1/T=13005	-	TOLERATED	B	-	het	1
6	1	9305024	T	G	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.64T>G	p.L22V	non-syn	rs138547645	-	G=0/T=8600;G=1/T=4405;G=1/T=13005	-	TOLERATED	B	-	het	1
7	1	9305179	C	T	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.186C>T	p.F62F	syn	rs116196265	0.0092	T=0/C=8600;T=96/C=4310;T=96/C=12910	lod=108:470	-	-	-	het	1
8	1	9305179	C	T	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.219C>T	p.F73F	syn	rs116196265	0.0092	T=0/C=8600;T=96/C=4310;T=96/C=12910	lod=108:470	-	-	-	het	1
9	1	9305248	C	T	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.255C>T	p.S85S	syn	rs138775586	-	T=22/C=8578;T=1/C=4405;T=23/C=12983	lod=164:514	-	-	-	het	6
10	1	9305248	C	T	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.288C>T	p.S96S	syn	rs138775586	-	T=22/C=8578;T=1/C=4405;T=23/C=12983	lod=164:514	-	-	-	het	6
11	1	9305309	A	G	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.316A>G	p.S106G	non-syn	rs148725451	-	G=6/A=8594;G=1/A=4405;G=7/A=12999	lod=150:505	-	D	-	het	2
12	1	9305309	A	G	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.349A>G	p.S117G	non-syn	rs148725451	-	G=6/A=8594;G=1/A=4405;G=7/A=12999	lod=150:505	-	D	-	het	2
13	1	9305445	A	C	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.452A>C	p.D151A	non-syn	rs34603401	0.1191	C=1307/A=7293;C=120/A=4286;C=1427/A=11579	lod=57:401	-	P	-	het	216
14	1	9305445	A	C	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.452A>C	p.D151A	non-syn	rs34603401	0.1191	C=1307/A=7293;C=120/A=4286;C=1427/A=11579	lod=57:401	-	P	-	hom	14
15	1	9305445	A	C	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.485A>C	p.D162A	non-syn	rs34603401	0.1191	C=1307/A=7293;C=120/A=4286;C=1427/A=11579	lod=57:401	-	P	-	het	216
16	1	9305445	A	C	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.485A>C	p.D162A	non-syn	rs34603401	0.1191	C=1307/A=7293;C=120/A=4286;C=1427/A=11579	lod=57:401	-	P	-	hom	14
17	1	9305513	A	G	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	c.520A>G	p.K174E	non-syn	NA	-	-	lod=43:371	-	D	-	het	1
18	1	9305513	A	G	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	c.553A>G	p.K185E	non-syn	NA	-	-	lod=43:371	-	D	-	het	1
19	1	9307017	C	G	ENST00000377403	ENSG00000049239	9294834	9331396	ENSP00000366620	H6PD	1	G6PE_HUMAN	-	-	-8bp 3'_splice_site	rs4601607	-	T=6/C=8594;T=166/C=4240;T=172/C=12834	-	-	-	-	het	2
20	1	9307017	C	G	ENST00000602477	ENSG00000049239	9294834	9331396	ENSP00000473348	H6PD	1	-	-	-	-8bp 3'_splice_site	rs4601607	-	T=6/C=8594;T=166/C=4240;T=172/C=12834	-	-	-	-	het	2

** 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 H6PD 1:9294834..9331396 region Gbrowse