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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 ATP5J2:

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
ENSG00000241468	ATP5J2	1	0	0	ENSG00000241468	ENST00000488775	ENSP00000418197	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 [Source:HGNC Symbol;Acc:848]	7	99046098	99063954	-1	q22.1	99055820	99063790	ATP5J2	ATP5J2-012	HGNC Symbol	HGNC transcript name	13	53.67	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9551	848	ATP5J2	NM_001039178	27506

MSeqDR Master Exome Data Set M1: 124 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	7	99055898	G	A	ENST00000292475	ENSG00000241468	99046098	99063954	ENSP00000292475	ATP5J2	-1	ATPK_HUMAN	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
2	7	99055898	G	A	ENST00000292475	ENSG00000241468	99046098	99063954	ENSP00000292475	ATP5J2	-1	ATPK_HUMAN	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
3	7	99055898	G	A	ENST00000359832	ENSG00000241468	99046098	99063954	ENSP00000352890	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
4	7	99055898	G	A	ENST00000359832	ENSG00000241468	99046098	99063954	ENSP00000352890	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
5	7	99055898	G	A	ENST00000414062	ENSG00000241468	99046098	99063954	ENSP00000412149	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
6	7	99055898	G	A	ENST00000414062	ENSG00000241468	99046098	99063954	ENSP00000412149	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
7	7	99055898	G	A	ENST00000449683	ENSG00000241468	99046098	99063954	ENSP00000407540	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
8	7	99055898	G	A	ENST00000449683	ENSG00000241468	99046098	99063954	ENSP00000407540	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
9	7	99055898	G	A	ENST00000488775	ENSG00000241468	99046098	99063954	ENSP00000418197	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
10	7	99055898	G	A	ENST00000488775	ENSG00000241468	99046098	99063954	ENSP00000418197	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
11	7	99055898	G	A	ENST00000491560	ENSG00000241468	99046098	99063954	-	ATP5J2	-1	-	c.578C>T	p.P193L	non-syn	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
12	7	99055898	G	A	ENST00000491560	ENSG00000241468	99046098	99063954	-	ATP5J2	-1	-	c.578C>T	p.P193L	non-syn	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
13	7	99055898	G	A	ENST00000544611	ENSG00000241468	99046098	99063954	ENSP00000444922	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	het	15
14	7	99055898	G	A	ENST00000544611	ENSG00000241468	99046098	99063954	ENSP00000444922	ATP5J2	-1	-	-	-	3'_UTR	rs3197990	0.1563	A=23/G=7141;A=559/G=2577;A=582/G=9718	-	-	-	-	hom	2
15	7	99055907	C	T	ENST00000292475	ENSG00000241468	99046098	99063954	ENSP00000292475	ATP5J2	-1	ATPK_HUMAN	-	-	3'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
16	7	99055907	C	T	ENST00000359832	ENSG00000241468	99046098	99063954	ENSP00000352890	ATP5J2	-1	-	-	-	3'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
17	7	99055907	C	T	ENST00000414062	ENSG00000241468	99046098	99063954	ENSP00000412149	ATP5J2	-1	-	-	-	3'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
18	7	99055907	C	T	ENST00000449683	ENSG00000241468	99046098	99063954	ENSP00000407540	ATP5J2	-1	-	-	-	3'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
19	7	99055907	C	T	ENST00000488775	ENSG00000241468	99046098	99063954	ENSP00000418197	ATP5J2	-1	-	-	-	3'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
20	7	99055907	C	T	ENST00000491560	ENSG00000241468	99046098	99063954	-	ATP5J2	-1	-	c.569G>A	p.R190Q	non-syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1

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Transcripts and variants in the surrounding ATP5J2 7:99046098..99063954 region Gbrowse