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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 POMC:

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
ENSG00000115138	POMC	0	0	9	ENSG00000115138	ENST00000405623	ENSP00000384092	proopiomelanocortin [Source:HGNC Symbol;Acc:9201]	2	25383722	25391772	-1	p23.3	25383784	25391772	POMC	POMC-001	HGNC Symbol	HGNC transcript name	5	51.16	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5443	9201	POMC		27508

MSeqDR Master Exome Data Set M1: 84 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	2	25383887	G	A	ENST00000264708	ENSG00000115138	25383722	25391772	ENSP00000264708	POMC	-1	COLI_HUMAN	-	-	3'_UTR	rs1042571	0.1687	-	-	-	-	Decr. serum leptin levels in lean indiv., assoc.	het	274
2	2	25383887	G	A	ENST00000264708	ENSG00000115138	25383722	25391772	ENSP00000264708	POMC	-1	COLI_HUMAN	-	-	3'_UTR	rs1042571	0.1687	-	-	-	-	Decr. serum leptin levels in lean indiv., assoc.	hom	29
3	2	25383887	G	A	ENST00000380794	ENSG00000115138	25383722	25391772	ENSP00000370171	POMC	-1	COLI_HUMAN	-	-	3'_UTR	rs1042571	0.1687	-	-	-	-	Decr. serum leptin levels in lean indiv., assoc.	het	274
4	2	25383887	G	A	ENST00000380794	ENSG00000115138	25383722	25391772	ENSP00000370171	POMC	-1	COLI_HUMAN	-	-	3'_UTR	rs1042571	0.1687	-	-	-	-	Decr. serum leptin levels in lean indiv., assoc.	hom	29
5	2	25383887	G	A	ENST00000405623	ENSG00000115138	25383722	25391772	ENSP00000384092	POMC	-1	COLI_HUMAN	-	-	3'_UTR	rs1042571	0.1687	-	-	-	-	Decr. serum leptin levels in lean indiv., assoc.	het	274
6	2	25383887	G	A	ENST00000405623	ENSG00000115138	25383722	25391772	ENSP00000384092	POMC	-1	COLI_HUMAN	-	-	3'_UTR	rs1042571	0.1687	-	-	-	-	Decr. serum leptin levels in lean indiv., assoc.	hom	29
7	2	25383921	G	-A	ENST00000264708	ENSG00000115138	25383722	25391772	ENSP00000264708	POMC	-1	COLI_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	2	25383921	G	-A	ENST00000380794	ENSG00000115138	25383722	25391772	ENSP00000370171	POMC	-1	COLI_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	2	25383921	G	-A	ENST00000405623	ENSG00000115138	25383722	25391772	ENSP00000384092	POMC	-1	COLI_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	2	25384048	G	C	ENST00000264708	ENSG00000115138	25383722	25391772	ENSP00000264708	POMC	-1	COLI_HUMAN	c.706C>G	p.R236G	non-syn	rs28932472	0.0055	C=35/G=8565;C=4/G=4402;C=39/G=12967	lod=277:570	DAMAGING	D	Obesity	het	11
11	2	25384048	G	C	ENST00000380794	ENSG00000115138	25383722	25391772	ENSP00000370171	POMC	-1	COLI_HUMAN	c.706C>G	p.R236G	non-syn	rs28932472	0.0055	C=35/G=8565;C=4/G=4402;C=39/G=12967	lod=277:570	DAMAGING	D	Obesity	het	11
12	2	25384048	G	C	ENST00000395826	ENSG00000115138	25383722	25391772	ENSP00000379170	POMC	-1	COLI_HUMAN	c.706C>G	p.R236G	non-syn	rs28932472	0.0055	C=35/G=8565;C=4/G=4402;C=39/G=12967	lod=277:570	DAMAGING	D	Obesity	het	11
13	2	25384048	G	C	ENST00000405623	ENSG00000115138	25383722	25391772	ENSP00000384092	POMC	-1	COLI_HUMAN	c.706C>G	p.R236G	non-syn	rs28932472	0.0055	C=35/G=8565;C=4/G=4402;C=39/G=12967	lod=277:570	DAMAGING	D	Obesity	het	11
14	2	25384048	G	C	ENST00000449220	ENSG00000115138	25383722	25391772	ENSP00000387993	POMC	-1	-	c.706C>G	p.R236G	non-syn	rs28932472	0.0055	C=35/G=8565;C=4/G=4402;C=39/G=12967	lod=277:570	DAMAGING	D	Obesity	het	11
15	2	25384086	A	G	ENST00000264708	ENSG00000115138	25383722	25391772	ENSP00000264708	POMC	-1	COLI_HUMAN	c.668T>C	p.M223T	non-syn	rs150343979	-	G=0/A=8600;G=3/A=4403;G=3/A=13003	lod=277:570	DAMAGING	D	-	het	1
16	2	25384086	A	G	ENST00000380794	ENSG00000115138	25383722	25391772	ENSP00000370171	POMC	-1	COLI_HUMAN	c.668T>C	p.M223T	non-syn	rs150343979	-	G=0/A=8600;G=3/A=4403;G=3/A=13003	lod=277:570	DAMAGING	D	-	het	1
17	2	25384086	A	G	ENST00000395826	ENSG00000115138	25383722	25391772	ENSP00000379170	POMC	-1	COLI_HUMAN	c.668T>C	p.M223T	non-syn	rs150343979	-	G=0/A=8600;G=3/A=4403;G=3/A=13003	lod=277:570	DAMAGING	D	-	het	1
18	2	25384086	A	G	ENST00000405623	ENSG00000115138	25383722	25391772	ENSP00000384092	POMC	-1	COLI_HUMAN	c.668T>C	p.M223T	non-syn	rs150343979	-	G=0/A=8600;G=3/A=4403;G=3/A=13003	lod=277:570	DAMAGING	D	-	het	1
19	2	25384086	A	G	ENST00000449220	ENSG00000115138	25383722	25391772	ENSP00000387993	POMC	-1	-	c.668T>C	p.M223T	non-syn	rs150343979	-	G=0/A=8600;G=3/A=4403;G=3/A=13003	lod=277:570	DAMAGING	D	-	het	1
20	2	25384113	T	C	ENST00000264708	ENSG00000115138	25383722	25391772	ENSP00000264708	POMC	-1	COLI_HUMAN	c.641A>G	p.E214G	non-syn	rs80326661	-	C=62/T=8538;C=6/T=4400;C=68/T=12938	-	DAMAGING	P	HGMD	het	5

** 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 POMC 2:25383722..25391772 region Gbrowse