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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 ALG12:

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
ENSG00000182858	ALG12	1	0	17	ENSG00000182858	ENST00000330817	ENSP00000333813	ALG12, alpha-1,6-mannosyltransferase [Source:HGNC Symbol;Acc:19358]	22	50293877	50312106	-1	q13.33	50293877	50312106	ALG12	ALG12-001	HGNC Symbol	HGNC transcript name	3	55.69	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	79087	19358	ALG12	NM_024105	27510

MSeqDR Master Exome Data Set M1: 109 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	22	50296892	C	-TTA	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	22	50297002	G	A	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	22	50297002	G	T	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs77163946	0.0204	-	-	-	-	-	het	2
4	22	50297034	C	-CT	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs146160881	-	-	-	-	-	-	het	164
5	22	50297034	C	-CT	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs146160881	-	-	-	-	-	-	hom	7
6	22	50297093	G	A	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	22	50297123	C	T	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
8	22	50297132	C	T	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
9	22	50297177	G	T	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs139930976	0.0025	-	-	-	-	-	het	1
10	22	50297206	C	T	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs116765369	0.0422	-	-	-	-	-	het	4
11	22	50297246	C	T	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs76848348	0.0746	-	-	-	-	-	het	3
12	22	50297367	T	G	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs199552388	-	-	-	-	-	-	het	4
13	22	50297367	T	G	ENST00000486602	ENSG00000182858	50293877	50312106	ENSP00000420630	ALG12	-1	-	c.605A>C	p.H202P	non-syn	rs199552388	-	-	-	-	-	-	het	4
14	22	50297435	T	C	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs1321	0.6636	C=1837/T=6757;C=3109/T=1281;C=4946/T=8038	-	-	-	-	hom	83
15	22	50297435	T	C	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs1321	0.6636	C=1837/T=6757;C=3109/T=1281;C=4946/T=8038	-	-	-	-	het	376
16	22	50297435	T	C	ENST00000486602	ENSG00000182858	50293877	50312106	ENSP00000420630	ALG12	-1	-	c.537A>G	p.S179S	syn	rs1321	0.6636	C=1837/T=6757;C=3109/T=1281;C=4946/T=8038	-	-	-	-	hom	83
17	22	50297435	T	C	ENST00000486602	ENSG00000182858	50293877	50312106	ENSP00000420630	ALG12	-1	-	c.537A>G	p.S179S	syn	rs1321	0.6636	C=1837/T=6757;C=3109/T=1281;C=4946/T=8038	-	-	-	-	het	376
18	22	50297480	T	-C	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	22	50297480	T	-C	ENST00000486602	ENSG00000182858	50293877	50312106	ENSP00000420630	ALG12	-1	-	c.491_491del	p.G164NA	non-syn	NA	-	-	-	-	-	-	het	1
20	22	50297485	C	G	ENST00000330817	ENSG00000182858	50293877	50312106	ENSP00000333813	ALG12	-1	ALG12_HUMAN	-	-	3'_UTR	rs138804791	-	G=22/C=8578;G=5/C=4401;G=27/C=12979	-	-	-	-	het	6

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding ALG12 22:50293877..50312106 region Gbrowse