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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 ALG1:

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
ENSG00000033011	ALG1	1	0	25	ENSG00000033011	ENST00000592793		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase [Source:HGNC Symbol;Acc:18294]	16	5083703	5137380	1	p13.3	5121844	5123429	ALG1	ALG1-009	HGNC Symbol	HGNC transcript name	9	49.38	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	56052	18294	ALG1		27514

MSeqDR Master Exome Data Set M1: 195 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	16	5083742	G	A	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.40G>A	p.A14T	non-syn	NA	-	-	-	-	-	-	het	2
2	16	5083769	C	T	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.67C>T	p.R23C	non-syn	NA	-	T=1/C=8271;T=0/C=4190;T=1/C=12461	-	-	-	-	het	1
3	16	5083792	A	+C	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.90_91insC	p.P31NA	non-syn	NA	-	-	-	-	-	-	het	1
4	16	5083833	G	A	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.131G>A	p.R44Q	non-syn	rs74952829	0.0327	A=0/G=7902;A=95/G=3929;A=95/G=11831	-	TOLERATED	B	-	het	1
5	16	5083858	A	G	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.156A>G	p.P52P	syn	NA	-	-	-	TOLERATED	P	-	het	2
6	16	5083900	C	T	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.198C>T	p.T66T	syn	NA	-	-	-	DAMAGING	B	-	het	1
7	16	5093978	G	A	ENST00000591961	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.2243G>A	p.R748K	non-syn	NA	-	-	-	-	-	-	het	2
8	16	5121872	C	T	ENST00000262374	ENSG00000033011	5083703	5137380	ENSP00000262374	ALG1	1	ALG1_HUMAN	c.22C>T	p.L8L	syn	rs144712188	-	T=1/C=8543;T=0/C=4366;T=1/C=12909	-	-	-	-	het	3
9	16	5121872	C	T	ENST00000586840	ENSG00000033011	5083703	5137380	ENSP00000467538	ALG1	1	-	c.22C>T	p.L8L	syn	rs144712188	-	T=1/C=8543;T=0/C=4366;T=1/C=12909	-	-	-	-	het	3
10	16	5121872	C	T	ENST00000591822	ENSG00000033011	5083703	5137380	ENSP00000467865	ALG1	1	-	c.22C>T	p.L8L	syn	rs144712188	-	T=1/C=8543;T=0/C=4366;T=1/C=12909	-	-	-	-	het	3
11	16	5121872	C	T	ENST00000592793	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.29C>T	p.P10L	non-syn	rs144712188	-	T=1/C=8543;T=0/C=4366;T=1/C=12909	-	-	-	-	het	3
12	16	5121886	T	C	ENST00000262374	ENSG00000033011	5083703	5137380	ENSP00000262374	ALG1	1	ALG1_HUMAN	c.36T>C	p.C12C	syn	NA	-	C=3/T=8495;C=0/T=4344;C=3/T=12839	-	-	-	-	het	2
13	16	5121886	T	C	ENST00000586840	ENSG00000033011	5083703	5137380	ENSP00000467538	ALG1	1	-	c.36T>C	p.C12C	syn	NA	-	C=3/T=8495;C=0/T=4344;C=3/T=12839	-	-	-	-	het	2
14	16	5121886	T	C	ENST00000591822	ENSG00000033011	5083703	5137380	ENSP00000467865	ALG1	1	-	c.36T>C	p.C12C	syn	NA	-	C=3/T=8495;C=0/T=4344;C=3/T=12839	-	-	-	-	het	2
15	16	5121886	T	C	ENST00000592793	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.43T>C	p.S15P	non-syn	NA	-	C=3/T=8495;C=0/T=4344;C=3/T=12839	-	-	-	-	het	2
16	16	5122041	C	A	ENST00000262374	ENSG00000033011	5083703	5137380	ENSP00000262374	ALG1	1	ALG1_HUMAN	c.191C>A	p.T64N	non-syn	rs145474820	0.0022	A=24/C=8346;A=1/C=4269;A=25/C=12615	lod=44:374	-	P	-	het	2
17	16	5122041	C	A	ENST00000586840	ENSG00000033011	5083703	5137380	ENSP00000467538	ALG1	1	-	c.191C>A	p.T64N	non-syn	rs145474820	0.0022	A=24/C=8346;A=1/C=4269;A=25/C=12615	lod=44:374	-	P	-	het	2
18	16	5122041	C	A	ENST00000591822	ENSG00000033011	5083703	5137380	ENSP00000467865	ALG1	1	-	c.191C>A	p.T64N	non-syn	rs145474820	0.0022	A=24/C=8346;A=1/C=4269;A=25/C=12615	lod=44:374	-	P	-	het	2
19	16	5122041	C	A	ENST00000592793	ENSG00000033011	5083703	5137380	-	ALG1	1	-	c.198C>A	p.D66E	non-syn	rs145474820	0.0022	A=24/C=8346;A=1/C=4269;A=25/C=12615	lod=44:374	-	P	-	het	2
20	16	5122072	G	+GTCT	ENST00000262374	ENSG00000033011	5083703	5137380	ENSP00000262374	ALG1	1	ALG1_HUMAN	-	-	+14bp 5'_splice_site	rs112683515	-	-	-	-	-	-	het	451

** 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 ALG1 16:5083703..5137380 region Gbrowse