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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 ASL:

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
ENSG00000126522	ASL	1	0	54	ENSG00000126522	ENST00000304874	ENSP00000307188	argininosuccinate lyase [Source:HGNC Symbol;Acc:746]	7	65540785	65558545	1	q11.21	65540785	65558545	ASL	ASL-001	HGNC Symbol	HGNC transcript name	10	54.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	435	746	ASL	NM_000048	27506

MSeqDR Master Exome Data Set M1: 166 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	65540911	C	A	ENST00000362000	ENSG00000126522	65540785	65558545	ENSP00000354710	ASL	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	7	65540911	C	A	ENST00000380839	ENSG00000126522	65540785	65558545	ENSP00000370219	ASL	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	7	65540911	C	A	ENST00000395331	ENSG00000126522	65540785	65558545	ENSP00000378740	ASL	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	7	65540911	C	A	ENST00000395332	ENSG00000126522	65540785	65558545	ENSP00000378741	ASL	1	ARLY_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	7	65540911	C	A	ENST00000496336	ENSG00000126522	65540785	65558545	-	ASL	1	-	c.84C>A	p.H28Q	non-syn	NA	-	-	-	-	-	-	het	2
6	7	65540966	C	G	ENST00000362000	ENSG00000126522	65540785	65558545	ENSP00000354710	ASL	1	-	-	-	5'_UTR	rs140499284	0.0029	-	-	-	-	-	het	2
7	7	65540966	C	G	ENST00000380839	ENSG00000126522	65540785	65558545	ENSP00000370219	ASL	1	-	-	-	5'_UTR	rs140499284	0.0029	-	-	-	-	-	het	2
8	7	65540966	C	G	ENST00000395331	ENSG00000126522	65540785	65558545	ENSP00000378740	ASL	1	-	-	-	5'_UTR	rs140499284	0.0029	-	-	-	-	-	het	2
9	7	65540966	C	G	ENST00000395332	ENSG00000126522	65540785	65558545	ENSP00000378741	ASL	1	ARLY_HUMAN	-	-	5'_UTR	rs140499284	0.0029	-	-	-	-	-	het	2
10	7	65540966	C	G	ENST00000496336	ENSG00000126522	65540785	65558545	-	ASL	1	-	c.139C>G	p.Q47E	non-syn	rs140499284	0.0029	-	-	-	-	-	het	2
11	7	65546812	G	A	ENST00000304874	ENSG00000126522	65540785	65558545	ENSP00000307188	ASL	1	ARLY_HUMAN	c.35G>A	p.R12Q	non-syn	rs145138923	-	A=27/G=8573;A=2/G=4404;A=29/G=12977	lod=104:466	DAMAGING	D	HGMD	het	1
12	7	65546812	G	A	ENST00000380839	ENSG00000126522	65540785	65558545	ENSP00000370219	ASL	1	-	c.35G>A	p.R12Q	non-syn	rs145138923	-	A=27/G=8573;A=2/G=4404;A=29/G=12977	lod=104:466	DAMAGING	D	HGMD	het	1
13	7	65546812	G	A	ENST00000395331	ENSG00000126522	65540785	65558545	ENSP00000378740	ASL	1	-	c.35G>A	p.R12Q	non-syn	rs145138923	-	A=27/G=8573;A=2/G=4404;A=29/G=12977	lod=104:466	DAMAGING	D	HGMD	het	1
14	7	65546812	G	A	ENST00000395332	ENSG00000126522	65540785	65558545	ENSP00000378741	ASL	1	ARLY_HUMAN	c.35G>A	p.R12Q	non-syn	rs145138923	-	A=27/G=8573;A=2/G=4404;A=29/G=12977	lod=104:466	DAMAGING	D	HGMD	het	1
15	7	65546812	G	A	ENST00000487982	ENSG00000126522	65540785	65558545	-	ASL	1	-	c.101G>A	p.R34Q	non-syn	rs145138923	-	A=27/G=8573;A=2/G=4404;A=29/G=12977	lod=104:466	DAMAGING	D	HGMD	het	1
16	7	65546812	G	A	ENST00000496336	ENSG00000126522	65540785	65558545	-	ASL	1	-	c.276G>A	p.P92P	syn	rs145138923	-	A=27/G=8573;A=2/G=4404;A=29/G=12977	lod=104:466	DAMAGING	D	HGMD	het	1
17	7	65546872	G	A	ENST00000304874	ENSG00000126522	65540785	65558545	ENSP00000307188	ASL	1	ARLY_HUMAN	c.95G>A	p.R32Q	non-syn	rs149108910	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=99:460	TOLERATED	B	-	het	1
18	7	65546872	G	A	ENST00000380839	ENSG00000126522	65540785	65558545	ENSP00000370219	ASL	1	-	c.95G>A	p.R32Q	non-syn	rs149108910	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=99:460	TOLERATED	B	-	het	1
19	7	65546872	G	A	ENST00000395331	ENSG00000126522	65540785	65558545	ENSP00000378740	ASL	1	-	c.95G>A	p.R32Q	non-syn	rs149108910	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=99:460	TOLERATED	B	-	het	1
20	7	65546872	G	A	ENST00000395332	ENSG00000126522	65540785	65558545	ENSP00000378741	ASL	1	ARLY_HUMAN	c.95G>A	p.R32Q	non-syn	rs149108910	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=99:460	TOLERATED	B	-	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 ASL 7:65540785..65558545 region Gbrowse