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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 ATP5G3:

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
ENSG00000154518	ATP5G3	1	0	0	ENSG00000154518	ENST00000284727	ENSP00000284727	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) [Source:HGNC Symbol;Acc:843]	2	176040986	176049335	-1	q31.1	176040986	176049335	ATP5G3	ATP5G3-001	HGNC Symbol	HGNC transcript name	5	40.96	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	518	843	ATP5G3	NM_001689	27508

MSeqDR Master Exome Data Set M1: 163 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	2	176041093	T	+AGTAC	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs113992146	-	-	-	-	-	-	het	73
2	2	176041093	T	+AGTAC	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs113992146	-	-	-	-	-	-	hom	489
3	2	176041368	C	T	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs11885686	0.09654	-	-	-	-	-	het	133
4	2	176041368	C	T	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs11885686	0.09654	-	-	-	-	-	hom	7
5	2	176041430	G	A	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs185584	0.99817	-	-	-	-	-	hom	661
6	2	176041471	T	C	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	2	176041510	T	A	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	2	176041552	T	C	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs142282617	0.00091	-	-	-	-	-	het	1
9	2	176041606	G	C	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs71419425	-	-	-	-	-	-	het	2
10	2	176041607	A	G	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
11	2	176041608	T	+A	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	2	176041634	G	C	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs72929310	0.01537	-	-	-	-	-	het	19
13	2	176041730	A	G	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	2	176041737	A	G	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs80154192	0.0452	-	-	-	-	-	het	32
15	2	176041963	A	T	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs268222	0.99815	-	-	-	-	-	hom	660
16	2	176041975	G	A	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs183413738	0.00276	-	-	-	-	-	het	2
17	2	176042241	A	T	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	2	176042302	T	A	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	2	176042379	T	-GGAC	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs58350508	-	-	-	-	-	-	het	66
20	2	176042379	T	-GGAC	ENST00000284727	ENSG00000154518	176040986	176049335	ENSP00000284727	ATP5G3	-1	AT5G3_HUMAN	-	-	3'_UTR	rs58350508	-	-	-	-	-	-	hom	68

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ATP5G3 2:176040986..176049335 region Gbrowse