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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 ATP5G1:

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
ENSG00000159199	ATP5G1	1	0	0	ENSG00000159199	ENST00000355938	ENSP00000348205	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) [Source:HGNC Symbol;Acc:841]	17	46970127	46973233	1	q21.32	46970127	46973233	ATP5G1	ATP5G1-001	HGNC Symbol	HGNC transcript name	10	50.08	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	516	841	ATP5G1	NM_001002027	27509

MSeqDR Master Exome Data Set M1: 87 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	17	46970259	T	C	ENST00000393366	ENSG00000159199	46970127	46973233	ENSP00000377033	ATP5G1	1	AT5G1_HUMAN	-	-	5'_UTR	rs1962412	0.6804	-	lod=87:446	-	-	-	het	1
2	17	46970259	T	C	ENST00000393366	ENSG00000159199	46970127	46973233	ENSP00000377033	ATP5G1	1	AT5G1_HUMAN	-	-	5'_UTR	rs1962412	0.6804	-	lod=87:446	-	-	-	hom	1
3	17	46970259	T	C	ENST00000513781	ENSG00000159199	46970127	46973233	-	ATP5G1	1	-	c.44T>C	p.V15A	non-syn	rs1962412	0.6804	-	lod=87:446	-	-	-	het	1
4	17	46970259	T	C	ENST00000513781	ENSG00000159199	46970127	46973233	-	ATP5G1	1	-	c.44T>C	p.V15A	non-syn	rs1962412	0.6804	-	lod=87:446	-	-	-	hom	1
5	17	46970684	G	T	ENST00000504591	ENSG00000159199	46970127	46973233	ENSP00000458423	ATP5G1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	7
6	17	46970836	A	G	ENST00000355938	ENSG00000159199	46970127	46973233	ENSP00000348205	ATP5G1	1	AT5G1_HUMAN	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
7	17	46970836	A	G	ENST00000355938	ENSG00000159199	46970127	46973233	ENSP00000348205	ATP5G1	1	AT5G1_HUMAN	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
8	17	46970836	A	G	ENST00000393366	ENSG00000159199	46970127	46973233	ENSP00000377033	ATP5G1	1	AT5G1_HUMAN	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
9	17	46970836	A	G	ENST00000393366	ENSG00000159199	46970127	46973233	ENSP00000377033	ATP5G1	1	AT5G1_HUMAN	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
10	17	46970836	A	G	ENST00000503641	ENSG00000159199	46970127	46973233	ENSP00000426094	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
11	17	46970836	A	G	ENST00000503641	ENSG00000159199	46970127	46973233	ENSP00000426094	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
12	17	46970836	A	G	ENST00000504591	ENSG00000159199	46970127	46973233	ENSP00000458423	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
13	17	46970836	A	G	ENST00000504591	ENSG00000159199	46970127	46973233	ENSP00000458423	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
14	17	46970836	A	G	ENST00000506855	ENSG00000159199	46970127	46973233	ENSP00000422950	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
15	17	46970836	A	G	ENST00000506855	ENSG00000159199	46970127	46973233	ENSP00000422950	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
16	17	46970836	A	G	ENST00000513347	ENSG00000159199	46970127	46973233	-	ATP5G1	1	-	c.140A>G	p.Q47R	non-syn	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
17	17	46970836	A	G	ENST00000513347	ENSG00000159199	46970127	46973233	-	ATP5G1	1	-	c.140A>G	p.Q47R	non-syn	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
18	17	46970836	A	G	ENST00000514808	ENSG00000159199	46970127	46973233	ENSP00000422086	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	het	8
19	17	46970836	A	G	ENST00000514808	ENSG00000159199	46970127	46973233	ENSP00000422086	ATP5G1	1	-	-	-	+18bp 5'_splice_site	rs684682	0.99808	G=8599/A=1;G=4148/A=258;G=12747/A=259	-	-	-	-	hom	959
20	17	46971684	A	-T	ENST00000502964	ENSG00000159199	46970127	46973233	-	ATP5G1	1	-	c.157_157del	p.F53NA	non-syn	NA	-	-	-	-	-	-	het	4

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Transcripts and variants in the surrounding ATP5G1 17:46970127..46973233 region Gbrowse