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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 ALG2:

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
ENSG00000119523	ALG2	1	0	10	ENSG00000119523	ENST00000238477	ENSP00000432675	ALG2, alpha-1,3/1,6-mannosyltransferase [Source:HGNC Symbol;Acc:23159]	9	101978708	101984238	-1	q22.33	101978708	101984224	ALG2	ALG2-001	HGNC Symbol	HGNC transcript name	3	42.69	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	85365	23159	ALG2		27518

MSeqDR Master Exome Data Set M1: 58 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	9	101979637	T	C	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	9	101979794	T	C	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	rs142781699	0.00186	-	-	-	-	-	het	4
3	9	101979794	T	C	ENST00000319033	ENSG00000119523	101978708	101984238	ENSP00000326609	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	rs142781699	0.00186	-	-	-	-	-	het	4
4	9	101979794	T	C	ENST00000476832	ENSG00000119523	101978708	101984238	ENSP00000417764	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	rs142781699	0.00186	-	-	-	-	-	het	4
5	9	101980020	T	C	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	9	101980020	T	C	ENST00000319033	ENSG00000119523	101978708	101984238	ENSP00000326609	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	9	101980020	T	C	ENST00000476832	ENSG00000119523	101978708	101984238	ENSP00000417764	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	9	101980118	A	T	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	9	101980118	A	T	ENST00000319033	ENSG00000119523	101978708	101984238	ENSP00000326609	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	9	101980118	A	T	ENST00000476832	ENSG00000119523	101978708	101984238	ENSP00000417764	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	9	101980241	C	T	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=56:399	TOLERATED	B	-	het	1
12	9	101980241	C	T	ENST00000319033	ENSG00000119523	101978708	101984238	ENSP00000326609	ALG2	-1	ALG2_HUMAN	c.947G>A	p.R316Q	non-syn	NA	-	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=56:399	TOLERATED	B	-	het	1
13	9	101980241	C	T	ENST00000476832	ENSG00000119523	101978708	101984238	ENSP00000417764	ALG2	-1	ALG2_HUMAN	c.1226G>A	p.R409Q	non-syn	NA	-	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=56:399	TOLERATED	B	-	het	1
14	9	101980367	A	G	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	rs35626507	0.0641	G=679/A=7921;G=83/A=4323;G=762/A=12244	-	TOLERATED	B	-	het	144
15	9	101980367	A	G	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	rs35626507	0.0641	G=679/A=7921;G=83/A=4323;G=762/A=12244	-	TOLERATED	B	-	hom	6
16	9	101980367	A	G	ENST00000319033	ENSG00000119523	101978708	101984238	ENSP00000326609	ALG2	-1	ALG2_HUMAN	c.821T>C	p.V274A	non-syn	rs35626507	0.0641	G=679/A=7921;G=83/A=4323;G=762/A=12244	-	TOLERATED	B	-	het	144
17	9	101980367	A	G	ENST00000319033	ENSG00000119523	101978708	101984238	ENSP00000326609	ALG2	-1	ALG2_HUMAN	c.821T>C	p.V274A	non-syn	rs35626507	0.0641	G=679/A=7921;G=83/A=4323;G=762/A=12244	-	TOLERATED	B	-	hom	6
18	9	101980367	A	G	ENST00000476832	ENSG00000119523	101978708	101984238	ENSP00000417764	ALG2	-1	ALG2_HUMAN	c.1100T>C	p.V367A	non-syn	rs35626507	0.0641	G=679/A=7921;G=83/A=4323;G=762/A=12244	-	TOLERATED	B	-	het	144
19	9	101980367	A	G	ENST00000476832	ENSG00000119523	101978708	101984238	ENSP00000417764	ALG2	-1	ALG2_HUMAN	c.1100T>C	p.V367A	non-syn	rs35626507	0.0641	G=679/A=7921;G=83/A=4323;G=762/A=12244	-	TOLERATED	B	-	hom	6
20	9	101980654	G	A	ENST00000238477	ENSG00000119523	101978708	101984238	ENSP00000432675	ALG2	-1	ALG2_HUMAN	-	-	3'_UTR	NA	-	-	lod=68:420	-	-	-	het	3

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Transcripts and variants in the surrounding ALG2 9:101978708..101984238 region Gbrowse