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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 ALG8:

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
ENSG00000159063	ALG8	1	0	12	ENSG00000159063	ENST00000524925		ALG8, alpha-1,3-glucosyltransferase [Source:HGNC Symbol;Acc:23161]	11	77811982	77850706	-1	q14.1	77817856	77825422	ALG8	ALG8-017	HGNC Symbol	HGNC transcript name	20	42.15	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	79053	23161	ALG8		27504

MSeqDR Master Exome Data Set M1: 224 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	11	77811990	T	C	ENST00000299626	ENSG00000159063	77811982	77850706	ENSP00000299626	ALG8	-1	ALG8_HUMAN	-	-	3'_UTR	rs1263505	0.81342	C=7309/T=1275;C=4122/T=278;C=11431/T=1553	-	-	-	-	het	232
2	11	77811990	T	C	ENST00000299626	ENSG00000159063	77811982	77850706	ENSP00000299626	ALG8	-1	ALG8_HUMAN	-	-	3'_UTR	rs1263505	0.81342	C=7309/T=1275;C=4122/T=278;C=11431/T=1553	-	-	-	-	hom	664
3	11	77811990	T	C	ENST00000530608	ENSG00000159063	77811982	77850706	ENSP00000432381	ALG8	-1	-	-	-	3'_UTR	rs1263505	0.81342	C=7309/T=1275;C=4122/T=278;C=11431/T=1553	-	-	-	-	het	232
4	11	77811990	T	C	ENST00000530608	ENSG00000159063	77811982	77850706	ENSP00000432381	ALG8	-1	-	-	-	3'_UTR	rs1263505	0.81342	C=7309/T=1275;C=4122/T=278;C=11431/T=1553	-	-	-	-	hom	664
5	11	77812075	C	T	ENST00000299626	ENSG00000159063	77811982	77850706	ENSP00000299626	ALG8	-1	ALG8_HUMAN	c.1516G>A	p.A506T	non-syn	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
6	11	77812075	C	T	ENST00000376156	ENSG00000159063	77811982	77850706	ENSP00000365326	ALG8	-1	ALG8_HUMAN	-	-	3'_UTR	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
7	11	77812075	C	T	ENST00000525783	ENSG00000159063	77811982	77850706	ENSP00000434066	ALG8	-1	-	-	-	3'_UTR	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
8	11	77812075	C	T	ENST00000526737	ENSG00000159063	77811982	77850706	ENSP00000436366	ALG8	-1	-	-	-	3'_UTR	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
9	11	77812075	C	T	ENST00000526849	ENSG00000159063	77811982	77850706	ENSP00000434388	ALG8	-1	-	c.529G>A	p.A177T	non-syn	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
10	11	77812075	C	T	ENST00000530608	ENSG00000159063	77811982	77850706	ENSP00000432381	ALG8	-1	-	c.621G>A	p.M207I	non-syn	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
11	11	77812075	C	T	ENST00000531213	ENSG00000159063	77811982	77850706	-	ALG8	-1	-	c.434G>A	p.C145Y	non-syn	rs149692072	-	T=4/C=8580;T=0/C=4400;T=4/C=12980	lod=359:598	TOLERATED	B	-	het	1
12	11	77812084	T	C	ENST00000299626	ENSG00000159063	77811982	77850706	ENSP00000299626	ALG8	-1	ALG8_HUMAN	c.1507A>G	p.I503V	non-syn	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
13	11	77812084	T	C	ENST00000376156	ENSG00000159063	77811982	77850706	ENSP00000365326	ALG8	-1	ALG8_HUMAN	-	-	3'_UTR	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
14	11	77812084	T	C	ENST00000525783	ENSG00000159063	77811982	77850706	ENSP00000434066	ALG8	-1	-	-	-	3'_UTR	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
15	11	77812084	T	C	ENST00000526737	ENSG00000159063	77811982	77850706	ENSP00000436366	ALG8	-1	-	-	-	3'_UTR	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
16	11	77812084	T	C	ENST00000526849	ENSG00000159063	77811982	77850706	ENSP00000434388	ALG8	-1	-	c.520A>G	p.I174V	non-syn	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
17	11	77812084	T	C	ENST00000530608	ENSG00000159063	77811982	77850706	ENSP00000432381	ALG8	-1	-	c.612A>G	p.A204A	syn	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
18	11	77812084	T	C	ENST00000531213	ENSG00000159063	77811982	77850706	-	ALG8	-1	-	c.425A>G	p.H142R	non-syn	rs17856033	-	C=5/T=8579;C=1/T=4399;C=6/T=12978	lod=359:598	TOLERATED	B	-	het	2
19	11	77813941	T	C	ENST00000376156	ENSG00000159063	77811982	77850706	ENSP00000365326	ALG8	-1	ALG8_HUMAN	c.1403A>G	p.468	syn	rs640016	0.3114	-	-	-	-	-	het	45
20	11	77813941	T	C	ENST00000376156	ENSG00000159063	77811982	77850706	ENSP00000365326	ALG8	-1	ALG8_HUMAN	c.1403A>G	p.468	syn	rs640016	0.3114	-	-	-	-	-	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 ALG8 11:77811982..77850706 region Gbrowse