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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 GM2A:

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
ENSG00000196743	GM2A	0	0	8	ENSG00000196743	ENST00000523466	ENSP00000429100	GM2 ganglioside activator [Source:HGNC Symbol;Acc:4367]	5	150591711	150650001	1	q33.1	150591711	150646441	GM2A	GM2A-004	HGNC Symbol	HGNC transcript name	3	47.41	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	2760	4367	GM2A		27527

MSeqDR Master Exome Data Set M1: 95 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	5	150632489	C	A	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	5	150632582	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	-	-	5'_UTR	rs149882276	0.0127	-	-	-	-	-	het	5
3	5	150632676	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	-	-	5'_UTR	rs2277028	0.3816	-	-	-	-	-	het	366
4	5	150632676	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	-	-	5'_UTR	rs2277028	0.3816	-	-	-	-	-	hom	115
5	5	150632734	G	A	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	-	-	5'_UTR	rs144932594	0.025	A=0/G=8600;A=132/G=4274;A=132/G=12874	-	-	-	-	het	6
6	5	150632832	G	A	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.55G>A	p.A19T	non-syn	rs1048719	0.1422	A=253/G=8347;A=104/G=4302;A=357/G=12649	-	TOLERATED	NA	-	het	77
7	5	150632832	G	A	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.55G>A	p.A19T	non-syn	rs1048719	0.1422	A=253/G=8347;A=104/G=4302;A=357/G=12649	-	TOLERATED	NA	-	hom	2
8	5	150632853	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.76A>G	p.K26E	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
9	5	150639360	G	A	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.126G>A	p.G42G	syn	rs113271740	0.0022	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
10	5	150639360	G	A	ENST00000523004	ENSG00000196743	150591711	150650001	ENSP00000430541	GM2A	1	-	c.1G>A	p.E1K	non-syn	rs113271740	0.0022	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
11	5	150639360	G	A	ENST00000523466	ENSG00000196743	150591711	150650001	ENSP00000429100	GM2A	1	-	c.171G>A	p.G57G	syn	rs113271740	0.0022	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
12	5	150639409	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.175A>G	p.I59V	non-syn	rs153477	0.63469	G=5388/A=3212;G=2528/A=1878;G=7916/A=5090	-	TOLERATED	B	-	het	449
13	5	150639409	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.175A>G	p.I59V	non-syn	rs153477	0.63469	G=5388/A=3212;G=2528/A=1878;G=7916/A=5090	-	TOLERATED	B	-	hom	461
14	5	150639409	A	G	ENST00000523004	ENSG00000196743	150591711	150650001	ENSP00000430541	GM2A	1	-	c.50A>G	p.H17R	non-syn	rs153477	0.63469	G=5388/A=3212;G=2528/A=1878;G=7916/A=5090	-	TOLERATED	B	-	het	449
15	5	150639409	A	G	ENST00000523004	ENSG00000196743	150591711	150650001	ENSP00000430541	GM2A	1	-	c.50A>G	p.H17R	non-syn	rs153477	0.63469	G=5388/A=3212;G=2528/A=1878;G=7916/A=5090	-	TOLERATED	B	-	hom	461
16	5	150639409	A	G	ENST00000523466	ENSG00000196743	150591711	150650001	ENSP00000429100	GM2A	1	-	c.220A>G	p.I74V	non-syn	rs153477	0.63469	G=5388/A=3212;G=2528/A=1878;G=7916/A=5090	-	TOLERATED	B	-	het	449
17	5	150639409	A	G	ENST00000523466	ENSG00000196743	150591711	150650001	ENSP00000429100	GM2A	1	-	c.220A>G	p.I74V	non-syn	rs153477	0.63469	G=5388/A=3212;G=2528/A=1878;G=7916/A=5090	-	TOLERATED	B	-	hom	461
18	5	150639439	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.205A>G	p.M69V	non-syn	rs153478	0.9112	G=5652/A=2948;G=3750/A=656;G=9402/A=3604	-	TOLERATED	B	-	hom	531
19	5	150639439	A	G	ENST00000357164	ENSG00000196743	150591711	150650001	ENSP00000349687	GM2A	1	SAP3_HUMAN	c.205A>G	p.M69V	non-syn	rs153478	0.9112	G=5652/A=2948;G=3750/A=656;G=9402/A=3604	-	TOLERATED	B	-	het	394
20	5	150639439	A	G	ENST00000523004	ENSG00000196743	150591711	150650001	ENSP00000430541	GM2A	1	-	c.80A>G	p.H27R	non-syn	rs153478	0.9112	G=5652/A=2948;G=3750/A=656;G=9402/A=3604	-	TOLERATED	B	-	hom	531

** 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 GM2A 5:150591711..150650001 region Gbrowse