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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 GUCY2D:

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
ENSG00000132518	GUCY2D	1	5	107	ENSG00000132518	ENST00000254854	ENSP00000254854	guanylate cyclase 2D, membrane (retina-specific) [Source:HGNC Symbol;Acc:4689]	17	7905912	7923657	1	p13.1	7905912	7923657	GUCY2D	GUCY2D-001	HGNC Symbol	HGNC transcript name	2	55.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3000	4689	GUCY2D	NM_000180	27509

MSeqDR Master Exome Data Set M1: 76 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	7906037	G	-C	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	-	-	5'_UTR	rs33914314	-	-	lod=92:452	-	-	-	hom	6
2	17	7906057	A	G	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	-	-	+5bp 5'_splice_site	rs7406106	1	-	lod=19:284	-	-	-	hom	13
3	17	7906426	T	C	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.61T>C	p.W21R	non-syn	rs9905402	0.2722	C=65/T=5361;C=278/T=2104;C=343/T=7465	-	-	B	Leber congenital amaurosis	het	44
4	17	7906426	T	C	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.61T>C	p.W21R	non-syn	rs9905402	0.2722	C=65/T=5361;C=278/T=2104;C=343/T=7465	-	-	B	Leber congenital amaurosis	hom	3
5	17	7906439	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.74C>T	p.S25F	non-syn	NA	-	-	-	-	P	-	het	1
6	17	7906469	G	A	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.104G>A	p.R35Q	non-syn	NA	-	-	-	-	B	-	het	2
7	17	7906488	C	-CTGCTT	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.124_129del	p.L42NA	non-syn	NA	-	-	-	-	-	-	het	1
8	17	7906510	G	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.145G>T	p.A49S	non-syn	NA	-	-	-	-	B	-	het	1
9	17	7906519	G	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.154G>T	p.A52S	non-syn	rs61749665	0.2902	T=1601/G=4981;T=396/G=2736;T=1997/G=7717	-	-	B	HGMD	hom	102
10	17	7906519	G	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.154G>T	p.A52S	non-syn	rs61749665	0.2902	T=1601/G=4981;T=396/G=2736;T=1997/G=7717	-	-	B	HGMD	het	318
11	17	7906529	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.164C>T	p.T55M	non-syn	rs201414567	0.0045	-	-	-	P	HGMD	het	1
12	17	7906545	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.180C>T	p.G60G	syn	NA	-	-	lod=47:381	-	-	-	het	2
13	17	7906884	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.519C>T	p.Y173Y	syn	NA	-	-	-	-	-	-	het	1
14	17	7907189	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.741C>T	p.H247H	syn	rs3829789	0.1648	T=1059/C=7541;T=351/C=4055;T=1410/C=11596	lod=148:503	-	-	-	het	147
15	17	7907189	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.741C>T	p.H247H	syn	rs3829789	0.1648	T=1059/C=7541;T=351/C=4055;T=1410/C=11596	lod=148:503	-	-	-	hom	9
16	17	7907250	C	A	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.802C>A	p.L268M	non-syn	NA	-	-	lod=38:358	-	B	-	het	1
17	17	7909735	G	A	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.1081G>A	p.V361M	non-syn	rs186508466	0.0025	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	B	-	het	4
18	17	7909747	C	T	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.1093C>T	p.R365W	non-syn	rs138836357	-	T=10/C=8590;T=0/C=4406;T=10/C=12996	-	-	B	HGMD	het	4
19	17	7909773	G	A	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.1119G>A	p.V373V	syn	rs56034424	0.0224	A=217/G=8381;A=20/G=4386;A=237/G=12767	lod=41:366	-	-	-	het	57
20	17	7909773	G	A	ENST00000254854	ENSG00000132518	7905912	7923657	ENSP00000254854	GUCY2D	1	GUC2D_HUMAN	c.1119G>A	p.V373V	syn	rs56034424	0.0224	A=217/G=8381;A=20/G=4386;A=237/G=12767	lod=41:366	-	-	-	hom	2

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Transcripts and variants in the surrounding GUCY2D 17:7905912..7923657 region Gbrowse