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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 ARG1:

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
ENSG00000118520	ARG1	1	0	2	ENSG00000118520	ENST00000368087	ENSP00000357066	arginase 1 [Source:HGNC Symbol;Acc:663]	6	131894284	131905472	1	q23.2	131894284	131905472	ARG1	ARG1-001	HGNC Symbol	HGNC transcript name	6	37.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	383	663	ARG1		27515

MSeqDR Master Exome Data Set M1: 66 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	131894358	C	T	ENST00000368087	ENSG00000118520	131894284	131905472	ENSP00000357066	ARG1	1	ARGI1_HUMAN	-	-	5'_UTR	rs17788484	0.0627	T=74/C=3108;T=81/C=1303;T=155/C=4411	lod=13:243	-	-	-	het	53
2	6	131894358	C	T	ENST00000469293	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.25C>T	p.R9C	non-syn	rs17788484	0.0627	T=74/C=3108;T=81/C=1303;T=155/C=4411	lod=13:243	-	-	-	het	53
3	6	131897807	G	A	ENST00000356962	ENSG00000118520	131894284	131905472	ENSP00000349446	ARG1	1	ARGI1_HUMAN	c.62G>A	p.R21Q	non-syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
4	6	131897807	G	A	ENST00000368087	ENSG00000118520	131894284	131905472	ENSP00000357066	ARG1	1	ARGI1_HUMAN	c.62G>A	p.R21Q	non-syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
5	6	131897807	G	A	ENST00000473794	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.93G>A	p.T31T	syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
6	6	131897807	G	A	ENST00000476845	ENSG00000118520	131894284	131905472	ENSP00000417694	ARG1	1	ARGI1_HUMAN	c.62G>A	p.R21Q	non-syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
7	6	131897807	G	A	ENST00000484820	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.34G>A	p.E12K	non-syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
8	6	131897807	G	A	ENST00000492505	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.100G>A	p.E34K	non-syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
9	6	131897807	G	A	ENST00000498260	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.103G>A	p.E35K	non-syn	rs144994895	-	A=11/G=8589;A=0/G=4406;A=11/G=12995	lod=125:485	DAMAGING	D	-	het	1
10	6	131900390	C	T	ENST00000275196	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.254C>T	p.T85M	non-syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	hom	2
11	6	131900390	C	T	ENST00000275196	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.254C>T	p.T85M	non-syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	het	82
12	6	131900390	C	T	ENST00000356962	ENSG00000118520	131894284	131905472	ENSP00000349446	ARG1	1	ARGI1_HUMAN	c.294C>T	p.N98N	syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	hom	2
13	6	131900390	C	T	ENST00000356962	ENSG00000118520	131894284	131905472	ENSP00000349446	ARG1	1	ARGI1_HUMAN	c.294C>T	p.N98N	syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	het	82
14	6	131900390	C	T	ENST00000368087	ENSG00000118520	131894284	131905472	ENSP00000357066	ARG1	1	ARGI1_HUMAN	c.270C>T	p.N90N	syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	hom	2
15	6	131900390	C	T	ENST00000368087	ENSG00000118520	131894284	131905472	ENSP00000357066	ARG1	1	ARGI1_HUMAN	c.270C>T	p.N90N	syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	het	82
16	6	131900390	C	T	ENST00000469293	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.286C>T	p.R96W	non-syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	hom	2
17	6	131900390	C	T	ENST00000469293	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.286C>T	p.R96W	non-syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	het	82
18	6	131900390	C	T	ENST00000473794	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.301C>T	p.R101W	non-syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	hom	2
19	6	131900390	C	T	ENST00000473794	ENSG00000118520	131894284	131905472	-	ARG1	1	-	c.301C>T	p.R101W	non-syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	het	82
20	6	131900390	C	T	ENST00000476845	ENSG00000118520	131894284	131905472	ENSP00000417694	ARG1	1	ARGI1_HUMAN	c.270C>T	p.N90N	syn	rs34504481	0.05927	T=551/C=8049;T=44/C=4362;T=595/C=12411	-	-	-	-	hom	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ARG1 6:131894284..131905472 region Gbrowse