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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 ATP5B:

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
ENSG00000110955	ATP5B	1	1	0	ENSG00000110955	ENST00000262030	ENSP00000262030	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide [Source:HGNC Symbol;Acc:830]	12	57031959	57039798	-1	q13.3	57031959	57039798	ATP5B	ATP5B-001	HGNC Symbol	HGNC transcript name	13	45.32	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	506	830	ATP5B	NM_001686	27519

MSeqDR Master Exome Data Set M1: 78 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	12	57032005	A	-AGAATATATCT	ENST00000262030	ENSG00000110955	57031959	57039798	ENSP00000262030	ATP5B	-1	ATPB_HUMAN	-	-	3'_UTR	rs149735193	-	-	lod=111:472	-	-	-	het	24
2	12	57032005	A	-AGAATATATCT	ENST00000548474	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.392_402del	p.S134NA	non-syn	rs149735193	-	-	lod=111:472	-	-	-	het	24
3	12	57032005	A	-AGAATATATCT	ENST00000552919	ENSG00000110955	57031959	57039798	ENSP00000450297	ATP5B	-1	-	-	-	3'_UTR	rs149735193	-	-	lod=111:472	-	-	-	het	24
4	12	57032223	G	-A	ENST00000262030	ENSG00000110955	57031959	57039798	ENSP00000262030	ATP5B	-1	ATPB_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	6
5	12	57032223	G	-A	ENST00000547808	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	6
6	12	57032223	G	-A	ENST00000548474	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	6
7	12	57032223	G	-A	ENST00000551182	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	6
8	12	57032223	G	-A	ENST00000552104	ENSG00000110955	57031959	57039798	ENSP00000450233	ATP5B	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	6
9	12	57032223	G	-A	ENST00000552919	ENSG00000110955	57031959	57039798	ENSP00000450297	ATP5B	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	6
10	12	57032900	C	A	ENST00000262030	ENSG00000110955	57031959	57039798	ENSP00000262030	ATP5B	-1	ATPB_HUMAN	c.1479G>T	p.Q493H	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
11	12	57032900	C	A	ENST00000547250	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.830G>T	p.R277I	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
12	12	57032900	C	A	ENST00000547808	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.647G>T	p.R216I	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
13	12	57032900	C	A	ENST00000548474	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.190G>T	p.D64Y	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
14	12	57032900	C	A	ENST00000551182	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.303G>T	p.Q101H	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
15	12	57032900	C	A	ENST00000552104	ENSG00000110955	57031959	57039798	ENSP00000450233	ATP5B	-1	-	c.588G>T	p.Q196H	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
16	12	57032900	C	A	ENST00000552919	ENSG00000110955	57031959	57039798	ENSP00000450297	ATP5B	-1	-	c.1446G>T	p.Q482H	non-syn	rs145015204	0.00092	A=9/C=8591;A=1/C=4405;A=10/C=12996	lod=362:599	DAMAGING	B	-	het	1
17	12	57033973	T	C	ENST00000262030	ENSG00000110955	57031959	57039798	ENSP00000262030	ATP5B	-1	ATPB_HUMAN	c.1078A>G	p.I360V	non-syn	NA	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=930:700	TOLERATED	B	-	het	1
18	12	57033973	T	C	ENST00000547250	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.429A>G	p.L143L	syn	NA	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=930:700	TOLERATED	B	-	het	1
19	12	57033973	T	C	ENST00000550162	ENSG00000110955	57031959	57039798	-	ATP5B	-1	-	c.633A>G	p.L211L	syn	NA	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=930:700	TOLERATED	B	-	het	1
20	12	57033973	T	C	ENST00000551570	ENSG00000110955	57031959	57039798	ENSP00000448428	ATP5B	-1	-	c.310A>G	p.I104V	non-syn	NA	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=930:700	TOLERATED	B	-	het	1

** 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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Transcripts and variants in the surrounding ATP5B 12:57031959..57039798 region Gbrowse