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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 ATP5G2:

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
ENSG00000135390	ATP5G2	1	0	0	ENSG00000135390	ENST00000550241		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) [Source:HGNC Symbol;Acc:842]	12	54026510	54071192	-1	q13.13	54026510	54062996	ATP5G2	ATP5G2-009	HGNC Symbol	HGNC transcript name	9	44.44	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	PUTATIVE	517	842	ATP5G2		27519

MSeqDR Master Exome Data Set M1: 77 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	54026689	C	T	ENST00000550241	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.227G>A	p.R76H	non-syn	NA	-	-	lod=948:702	-	-	-	het	1
2	12	54026690	G	A	ENST00000550241	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.226C>T	p.R76C	non-syn	rs181284671	0.00091	-	lod=948:702	-	-	-	het	11
3	12	54026841	G	A	ENST00000550241	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.75C>T	p.H25H	syn	rs185152135	0.0013	-	lod=948:702	-	-	-	het	2
4	12	54059015	C	T	ENST00000338662	ENSG00000135390	54026510	54071192	ENSP00000340315	ATP5G2	-1	AT5G2_HUMAN	-	-	3'_UTR	NA	-	-	lod=340:592	-	-	-	het	3
5	12	54059015	C	T	ENST00000394349	ENSG00000135390	54026510	54071192	ENSP00000377878	ATP5G2	-1	AT5G2_HUMAN	-	-	3'_UTR	NA	-	-	lod=340:592	-	-	-	het	3
6	12	54059015	C	T	ENST00000495596	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.1916G>A	p.W639*	non-syn	NA	-	-	lod=340:592	-	-	-	het	3
7	12	54059015	C	T	ENST00000549164	ENSG00000135390	54026510	54071192	ENSP00000447317	ATP5G2	-1	AT5G2_HUMAN	-	-	3'_UTR	NA	-	-	lod=340:592	-	-	-	het	3
8	12	54059015	C	T	ENST00000552242	ENSG00000135390	54026510	54071192	ENSP00000448801	ATP5G2	-1	-	-	-	3'_UTR	NA	-	-	lod=340:592	-	-	-	het	3
9	12	54059015	C	T	ENST00000602871	ENSG00000135390	54026510	54071192	ENSP00000473535	ATP5G2	-1	-	-	-	3'_UTR	NA	-	-	lod=340:592	-	-	-	het	3
10	12	54063056	C	T	ENST00000338662	ENSG00000135390	54026510	54071192	ENSP00000340315	ATP5G2	-1	AT5G2_HUMAN	c.235G>A	p.A79T	non-syn	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
11	12	54063056	C	T	ENST00000394349	ENSG00000135390	54026510	54071192	ENSP00000377878	ATP5G2	-1	AT5G2_HUMAN	c.358G>A	p.A120T	non-syn	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
12	12	54063056	C	T	ENST00000495596	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.1594G>A	p.A532T	non-syn	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
13	12	54063056	C	T	ENST00000549164	ENSG00000135390	54026510	54071192	ENSP00000447317	ATP5G2	-1	AT5G2_HUMAN	c.187G>A	p.A63T	non-syn	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
14	12	54063056	C	T	ENST00000549748	ENSG00000135390	54026510	54071192	ENSP00000447643	ATP5G2	-1	-	-	-	3'_UTR	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
15	12	54063056	C	T	ENST00000552120	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.461G>A	p.R154H	non-syn	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
16	12	54063056	C	T	ENST00000552242	ENSG00000135390	54026510	54071192	ENSP00000448801	ATP5G2	-1	-	-	-	3'_UTR	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
17	12	54063056	C	T	ENST00000602871	ENSG00000135390	54026510	54071192	ENSP00000473535	ATP5G2	-1	-	c.187G>A	p.A63T	non-syn	rs145981161	-	T=16/C=8584;T=0/C=4406;T=16/C=12990	-	TOLERATED	B	-	het	13
18	12	54063859	G	+T	ENST00000549748	ENSG00000135390	54026510	54071192	ENSP00000447643	ATP5G2	-1	-	c.78_79insA	p.H27NA	non-syn	NA	-	-	-	-	-	-	het	10
19	12	54063859	G	+T	ENST00000552120	ENSG00000135390	54026510	54071192	-	ATP5G2	-1	-	c.186_187insA	p.H63NA	non-syn	NA	-	-	-	-	-	-	het	10
20	12	54063869	G	A	ENST00000549748	ENSG00000135390	54026510	54071192	ENSP00000447643	ATP5G2	-1	-	c.69C>T	p.N23N	syn	rs79533383	0.0299	-	-	-	-	-	het	2

** 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 ATP5G2 12:54026510..54071192 region Gbrowse