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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 ALG3:

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
ENSG00000214160	ALG3	1	0	6	ENSG00000214160	ENST00000411922	ENSP00000394917	ALG3, alpha-1,3- mannosyltransferase [Source:HGNC Symbol;Acc:23056]	3	183960089	183967336	-1	q27.1	183960089	183966750	ALG3	ALG3-004	HGNC Symbol	HGNC transcript name	15	51.41	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	10195	23056	ALG3		27517

MSeqDR Master Exome Data Set M1: 192 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	3	183960174	C	A	ENST00000397676	ENSG00000214160	183960089	183967336	ENSP00000380793	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	3	183960174	C	A	ENST00000411922	ENSG00000214160	183960089	183967336	ENSP00000394917	ALG3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	3	183960174	C	A	ENST00000418734	ENSG00000214160	183960089	183967336	ENSP00000402976	ALG3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	3	183960218	T	C	ENST00000397676	ENSG00000214160	183960089	183967336	ENSP00000380793	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	3	183960218	T	C	ENST00000411922	ENSG00000214160	183960089	183967336	ENSP00000394917	ALG3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	3	183960218	T	C	ENST00000418734	ENSG00000214160	183960089	183967336	ENSP00000402976	ALG3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	3	183960218	T	C	ENST00000445626	ENSG00000214160	183960089	183967336	ENSP00000402744	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	3	183960252	A	C	ENST00000397676	ENSG00000214160	183960089	183967336	ENSP00000380793	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	het	258
9	3	183960252	A	C	ENST00000397676	ENSG00000214160	183960089	183967336	ENSP00000380793	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	hom	38
10	3	183960252	A	C	ENST00000411922	ENSG00000214160	183960089	183967336	ENSP00000394917	ALG3	-1	-	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	het	258
11	3	183960252	A	C	ENST00000411922	ENSG00000214160	183960089	183967336	ENSP00000394917	ALG3	-1	-	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	hom	38
12	3	183960252	A	C	ENST00000418734	ENSG00000214160	183960089	183967336	ENSP00000402976	ALG3	-1	-	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	het	258
13	3	183960252	A	C	ENST00000418734	ENSG00000214160	183960089	183967336	ENSP00000402976	ALG3	-1	-	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	hom	38
14	3	183960252	A	C	ENST00000445626	ENSG00000214160	183960089	183967336	ENSP00000402744	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	het	258
15	3	183960252	A	C	ENST00000445626	ENSG00000214160	183960089	183967336	ENSP00000402744	ALG3	-1	ALG3_HUMAN	-	-	3'_UTR	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	hom	38
16	3	183960252	A	C	ENST00000485912	ENSG00000214160	183960089	183967336	-	ALG3	-1	-	c.990T>G	p.V330V	syn	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	het	258
17	3	183960252	A	C	ENST00000485912	ENSG00000214160	183960089	183967336	-	ALG3	-1	-	c.990T>G	p.V330V	syn	rs706584	0.1865	C=1676/A=6576;C=1025/A=2827;C=2701/A=9403	-	-	-	-	hom	38
18	3	183960348	G	A	ENST00000397676	ENSG00000214160	183960089	183967336	ENSP00000380793	ALG3	-1	ALG3_HUMAN	c.1271C>T	p.P424L	non-syn	rs79144888	0.0138	-	lod=167:516	DAMAGING	-	-	het	1
19	3	183960348	G	A	ENST00000411922	ENSG00000214160	183960089	183967336	ENSP00000394917	ALG3	-1	-	-	-	3'_UTR	rs79144888	0.0138	-	lod=167:516	DAMAGING	-	-	het	1
20	3	183960348	G	A	ENST00000418734	ENSG00000214160	183960089	183967336	ENSP00000402976	ALG3	-1	-	c.1103C>T	p.P368L	non-syn	rs79144888	0.0138	-	lod=167:516	DAMAGING	-	-	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 ALG3 3:183960089..183967336 region Gbrowse