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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 ALAS2:

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
ENSG00000158578	ALAS2	1	0	46	ENSG00000158578	ENST00000396198	ENSP00000379501	aminolevulinate, delta-, synthase 2 [Source:HGNC Symbol;Acc:397]	X	55035488	55057497	-1	p11.21	55035488	55057410	ALAS2	ALAS2-007	HGNC Symbol	HGNC transcript name	8	43.2	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	212	397	ALAS2	NM_001037968	27516

MSeqDR Master Exome Data Set M1: 86 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	X	55035489	G	A	ENST00000330807	ENSG00000158578	55035488	55057497	ENSP00000332369	ALAS2	-1	HEM0_HUMAN	-	-	3'_UTR	rs145843014	0.0075	-	-	-	-	-	hom	1
2	X	55035489	G	A	ENST00000396198	ENSG00000158578	55035488	55057497	ENSP00000379501	ALAS2	-1	-	-	-	3'_UTR	rs145843014	0.0075	-	-	-	-	-	hom	1
3	X	55035557	T	G	ENST00000330807	ENSG00000158578	55035488	55057497	ENSP00000332369	ALAS2	-1	HEM0_HUMAN	-	-	3'_UTR	rs6612250	0.1982	-	-	-	-	-	het	5
4	X	55035557	T	G	ENST00000330807	ENSG00000158578	55035488	55057497	ENSP00000332369	ALAS2	-1	HEM0_HUMAN	-	-	3'_UTR	rs6612250	0.1982	-	-	-	-	-	hom	2
5	X	55035557	T	G	ENST00000335854	ENSG00000158578	55035488	55057497	ENSP00000337131	ALAS2	-1	HEM0_HUMAN	-	-	3'_UTR	rs6612250	0.1982	-	-	-	-	-	het	5
6	X	55035557	T	G	ENST00000335854	ENSG00000158578	55035488	55057497	ENSP00000337131	ALAS2	-1	HEM0_HUMAN	-	-	3'_UTR	rs6612250	0.1982	-	-	-	-	-	hom	2
7	X	55035557	T	G	ENST00000396198	ENSG00000158578	55035488	55057497	ENSP00000379501	ALAS2	-1	-	-	-	3'_UTR	rs6612250	0.1982	-	-	-	-	-	het	5
8	X	55035557	T	G	ENST00000396198	ENSG00000158578	55035488	55057497	ENSP00000379501	ALAS2	-1	-	-	-	3'_UTR	rs6612250	0.1982	-	-	-	-	-	hom	2
9	X	55035557	T	G	ENST00000498636	ENSG00000158578	55035488	55057497	-	ALAS2	-1	-	c.948A>C	p.L316L	syn	rs6612250	0.1982	-	-	-	-	-	het	5
10	X	55035557	T	G	ENST00000498636	ENSG00000158578	55035488	55057497	-	ALAS2	-1	-	c.948A>C	p.L316L	syn	rs6612250	0.1982	-	-	-	-	-	hom	2
11	X	55035701	C	T	ENST00000330807	ENSG00000158578	55035488	55057497	ENSP00000332369	ALAS2	-1	HEM0_HUMAN	c.1676G>A	p.R559H	non-syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	hom	1
12	X	55035701	C	T	ENST00000330807	ENSG00000158578	55035488	55057497	ENSP00000332369	ALAS2	-1	HEM0_HUMAN	c.1676G>A	p.R559H	non-syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	het	1
13	X	55035701	C	T	ENST00000335854	ENSG00000158578	55035488	55057497	ENSP00000337131	ALAS2	-1	HEM0_HUMAN	c.1565G>A	p.R522H	non-syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	hom	1
14	X	55035701	C	T	ENST00000335854	ENSG00000158578	55035488	55057497	ENSP00000337131	ALAS2	-1	HEM0_HUMAN	c.1565G>A	p.R522H	non-syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	het	1
15	X	55035701	C	T	ENST00000396198	ENSG00000158578	55035488	55057497	ENSP00000379501	ALAS2	-1	-	c.1637G>A	p.R546H	non-syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	hom	1
16	X	55035701	C	T	ENST00000396198	ENSG00000158578	55035488	55057497	ENSP00000379501	ALAS2	-1	-	c.1637G>A	p.R546H	non-syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	het	1
17	X	55035701	C	T	ENST00000498636	ENSG00000158578	55035488	55057497	-	ALAS2	-1	-	c.804G>A	p.S268S	syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	hom	1
18	X	55035701	C	T	ENST00000498636	ENSG00000158578	55035488	55057497	-	ALAS2	-1	-	c.804G>A	p.S268S	syn	rs145704441	-	T=21/C=6707;T=1/C=3834;T=22/C=10541	lod=296:577	TOLERATED	B	HGMD	het	1
19	X	55035730	A	G	ENST00000330807	ENSG00000158578	55035488	55057497	ENSP00000332369	ALAS2	-1	HEM0_HUMAN	c.1647T>C	p.D549D	syn	rs35075981	-	G=0/A=6727;G=8/A=3826;G=8/A=10553	-	-	-	-	het	1
20	X	55035730	A	G	ENST00000335854	ENSG00000158578	55035488	55057497	ENSP00000337131	ALAS2	-1	HEM0_HUMAN	c.1536T>C	p.D512D	syn	rs35075981	-	G=0/A=6727;G=8/A=3826;G=8/A=10553	-	-	-	-	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 ALAS2 X:55035488..55057497 region Gbrowse