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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 ATP5O:

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
ENSG00000241837	ATP5O	1	1	0	ENSG00000241837	ENST00000431254	ENSP00000393496	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit [Source:HGNC Symbol;Acc:850]	21	35275757	35288284	-1	q22.11	35275757	35288065	ATP5O	ATP5O-003	HGNC Symbol	HGNC transcript name	10	43.51	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	539	850	ATP5O		27505

MSeqDR Master Exome Data Set M1: 138 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	21	35275935	C	T	ENST00000290299	ENSG00000241837	35275757	35288284	ENSP00000290299	ATP5O	-1	ATPO_HUMAN	c.537G>A	p.P179P	syn	NA	-	-	lod=45:376	-	-	-	het	4
2	21	35275935	C	T	ENST00000417181	ENSG00000241837	35275757	35288284	ENSP00000407220	ATP5O	-1	-	-	-	3'_UTR	NA	-	-	lod=45:376	-	-	-	het	4
3	21	35275935	C	T	ENST00000418933	ENSG00000241837	35275757	35288284	ENSP00000393211	ATP5O	-1	-	c.240G>A	p.P80P	syn	NA	-	-	lod=45:376	-	-	-	het	4
4	21	35275935	C	T	ENST00000429064	ENSG00000241837	35275757	35288284	ENSP00000403964	ATP5O	-1	-	-	-	3'_UTR	NA	-	-	lod=45:376	-	-	-	het	4
5	21	35275935	C	T	ENST00000431254	ENSG00000241837	35275757	35288284	ENSP00000393496	ATP5O	-1	-	-	-	3'_UTR	NA	-	-	lod=45:376	-	-	-	het	4
6	21	35275935	C	T	ENST00000491703	ENSG00000241837	35275757	35288284	-	ATP5O	-1	-	c.2661G>A	p.P887P	syn	NA	-	-	lod=45:376	-	-	-	het	4
7	21	35275955	G	A	ENST00000290299	ENSG00000241837	35275757	35288284	ENSP00000290299	ATP5O	-1	ATPO_HUMAN	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	het	38
8	21	35275955	G	A	ENST00000290299	ENSG00000241837	35275757	35288284	ENSP00000290299	ATP5O	-1	ATPO_HUMAN	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	hom	921
9	21	35275955	G	A	ENST00000417181	ENSG00000241837	35275757	35288284	ENSP00000407220	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	het	38
10	21	35275955	G	A	ENST00000417181	ENSG00000241837	35275757	35288284	ENSP00000407220	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	hom	921
11	21	35275955	G	A	ENST00000418933	ENSG00000241837	35275757	35288284	ENSP00000393211	ATP5O	-1	-	c.220C>T	p.L74F	non-syn	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	het	38
12	21	35275955	G	A	ENST00000418933	ENSG00000241837	35275757	35288284	ENSP00000393211	ATP5O	-1	-	c.220C>T	p.L74F	non-syn	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	hom	921
13	21	35275955	G	A	ENST00000429064	ENSG00000241837	35275757	35288284	ENSP00000403964	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	het	38
14	21	35275955	G	A	ENST00000429064	ENSG00000241837	35275757	35288284	ENSP00000403964	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	hom	921
15	21	35275955	G	A	ENST00000431254	ENSG00000241837	35275757	35288284	ENSP00000393496	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	het	38
16	21	35275955	G	A	ENST00000431254	ENSG00000241837	35275757	35288284	ENSP00000393496	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	hom	921
17	21	35275955	G	A	ENST00000491703	ENSG00000241837	35275757	35288284	-	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	het	38
18	21	35275955	G	A	ENST00000491703	ENSG00000241837	35275757	35288284	-	ATP5O	-1	-	-	-	-12bp 3'_splice_site	rs9980730	0.97518	A=8343/G=257;A=4372/G=34;A=12715/G=291	-	-	-	-	hom	921
19	21	35278905	G	C	ENST00000491703	ENSG00000241837	35275757	35288284	-	ATP5O	-1	-	c.2413C>G	p.L805V	non-syn	NA	-	-	-	-	-	-	het	1
20	21	35278919	A	+CT	ENST00000491703	ENSG00000241837	35275757	35288284	-	ATP5O	-1	-	c.2398_2399insAG	p.V800NA	non-syn	rs79799714	-	-	-	-	-	-	het	328

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Transcripts and variants in the surrounding ATP5O 21:35275757..35288284 region Gbrowse