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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 NOS3:

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
ENSG00000164867	NOS3	0	0	2	ENSG00000164867	ENST00000297494	ENSP00000297494	nitric oxide synthase 3 (endothelial cell) [Source:HGNC Symbol;Acc:7876]	7	150688083	150711676	1	q36.1	150688083	150711676	NOS3	NOS3-001	HGNC Symbol	HGNC transcript name	10	57.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4846	7876	NOS3	NM_000603	27506

MSeqDR Master Exome Data Set M1: 288 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	7	150692305	C	T	ENST00000297494	ENSG00000164867	150688083	150711676	ENSP00000297494	NOS3	1	NOS3_HUMAN	c.173C>T	p.P58L	non-syn	NA	-	-	lod=36:352	TOLERATED	NA	-	het	1
2	7	150692305	C	T	ENST00000461406	ENSG00000164867	150688083	150711676	ENSP00000417143	NOS3	1	-	-	-	5'_UTR	NA	-	-	lod=36:352	TOLERATED	NA	-	het	1
3	7	150692305	C	T	ENST00000467517	ENSG00000164867	150688083	150711676	ENSP00000420551	NOS3	1	-	c.173C>T	p.P58L	non-syn	NA	-	-	lod=36:352	TOLERATED	NA	-	het	1
4	7	150692305	C	T	ENST00000484524	ENSG00000164867	150688083	150711676	ENSP00000420215	NOS3	1	NOS3_HUMAN	c.173C>T	p.P58L	non-syn	NA	-	-	lod=36:352	TOLERATED	NA	-	het	1
5	7	150692365	G	A	ENST00000297494	ENSG00000164867	150688083	150711676	ENSP00000297494	NOS3	1	NOS3_HUMAN	c.233G>A	p.S78N	non-syn	NA	-	-	lod=162:513	TOLERATED	B	-	het	1
6	7	150692365	G	A	ENST00000461406	ENSG00000164867	150688083	150711676	ENSP00000417143	NOS3	1	-	-	-	5'_UTR	NA	-	-	lod=162:513	TOLERATED	B	-	het	1
7	7	150692365	G	A	ENST00000467517	ENSG00000164867	150688083	150711676	ENSP00000420551	NOS3	1	-	c.233G>A	p.S78N	non-syn	NA	-	-	lod=162:513	TOLERATED	B	-	het	1
8	7	150692365	G	A	ENST00000484524	ENSG00000164867	150688083	150711676	ENSP00000420215	NOS3	1	NOS3_HUMAN	c.233G>A	p.S78N	non-syn	NA	-	-	lod=162:513	TOLERATED	B	-	het	1
9	7	150693485	G	T	ENST00000297494	ENSG00000164867	150688083	150711676	ENSP00000297494	NOS3	1	NOS3_HUMAN	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
10	7	150693485	G	T	ENST00000467517	ENSG00000164867	150688083	150711676	ENSP00000420551	NOS3	1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
11	7	150693485	G	T	ENST00000484524	ENSG00000164867	150688083	150711676	ENSP00000420215	NOS3	1	NOS3_HUMAN	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
12	7	150693513	C	T	ENST00000297494	ENSG00000164867	150688083	150711676	ENSP00000297494	NOS3	1	NOS3_HUMAN	c.292C>T	p.R98C	non-syn	NA	-	-	lod=141:498	TOLERATED	D	-	het	1
13	7	150693513	C	T	ENST00000467517	ENSG00000164867	150688083	150711676	ENSP00000420551	NOS3	1	-	c.292C>T	p.R98C	non-syn	NA	-	-	lod=141:498	TOLERATED	D	-	het	1
14	7	150693513	C	T	ENST00000484524	ENSG00000164867	150688083	150711676	ENSP00000420215	NOS3	1	NOS3_HUMAN	c.292C>T	p.R98C	non-syn	NA	-	-	lod=141:498	TOLERATED	D	-	het	1
15	7	150693556	G	A	ENST00000297494	ENSG00000164867	150688083	150711676	ENSP00000297494	NOS3	1	NOS3_HUMAN	c.335G>A	p.R112Q	non-syn	rs3918166	0.0886	A=5/G=8527;A=194/G=4124;A=199/G=12651	lod=43:371	TOLERATED	P	-	het	4
16	7	150693556	G	A	ENST00000467517	ENSG00000164867	150688083	150711676	ENSP00000420551	NOS3	1	-	c.335G>A	p.R112Q	non-syn	rs3918166	0.0886	A=5/G=8527;A=194/G=4124;A=199/G=12651	lod=43:371	TOLERATED	P	-	het	4
17	7	150693556	G	A	ENST00000484524	ENSG00000164867	150688083	150711676	ENSP00000420215	NOS3	1	NOS3_HUMAN	c.335G>A	p.R112Q	non-syn	rs3918166	0.0886	A=5/G=8527;A=194/G=4124;A=199/G=12651	lod=43:371	TOLERATED	P	-	het	4
18	7	150693567	G	A	ENST00000297494	ENSG00000164867	150688083	150711676	ENSP00000297494	NOS3	1	NOS3_HUMAN	c.346G>A	p.G116S	non-syn	rs200136447	-	-	-	TOLERATED	P	-	het	1
19	7	150693567	G	A	ENST00000467517	ENSG00000164867	150688083	150711676	ENSP00000420551	NOS3	1	-	c.346G>A	p.G116S	non-syn	rs200136447	-	-	-	TOLERATED	P	-	het	1
20	7	150693567	G	A	ENST00000484524	ENSG00000164867	150688083	150711676	ENSP00000420215	NOS3	1	NOS3_HUMAN	c.346G>A	p.G116S	non-syn	rs200136447	-	-	-	TOLERATED	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding NOS3 7:150688083..150711676 region Gbrowse