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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 ATP5E:

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
ENSG00000124172	ATP5E	1	2	0	ENSG00000124172	ENST00000243997	ENSP00000243997	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit [Source:HGNC Symbol;Acc:838]	20	57600522	57607437	-1	q13.32	57600522	57607437	ATP5E	ATP5E-001	HGNC Symbol	HGNC transcript name	3	39.49	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	514	838	ATP5E	NM_006886	27522

MSeqDR Master Exome Data Set M1: 55 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	20	57600545	T	G	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	20	57600575	T	C	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs12326	0.0127	-	-	-	-	-	het	6
3	20	57600655	G	C	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs10485828	0.17	-	-	-	-	-	hom	20
4	20	57600655	G	C	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs10485828	0.17	-	-	-	-	-	het	181
5	20	57600924	C	-ATT	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	20	57601026	C	T	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs78267010	0.056	-	-	-	-	-	het	3
7	20	57601053	G	A	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs184285667	0.0028	-	-	-	-	-	het	1
8	20	57601053	G	A	ENST00000395663	ENSG00000124172	57600522	57607437	ENSP00000379023	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs184285667	0.0028	-	-	-	-	-	het	1
9	20	57601411	A	-CT	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	20	57601411	A	-CT	ENST00000395663	ENSG00000124172	57600522	57607437	ENSP00000379023	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	20	57601430	T	A	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs185624345	-	-	-	-	-	-	het	3
12	20	57601430	T	A	ENST00000395663	ENSG00000124172	57600522	57607437	ENSP00000379023	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs185624345	-	-	-	-	-	-	het	3
13	20	57601482	C	T	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	20	57601482	C	T	ENST00000395663	ENSG00000124172	57600522	57607437	ENSP00000379023	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	20	57601719	C	T	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs138467060	0.0169	-	lod=53:393	-	-	-	het	2
16	20	57601721	G	A	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	lod=53:393	-	-	-	het	1
17	20	57601803	C	G	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	20	57601995	A	G	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	rs151352	0.8479	-	-	-	-	-	hom	1
19	20	57603612	G	C	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	20	57603752	A	G	ENST00000243997	ENSG00000124172	57600522	57607437	ENSP00000243997	ATP5E	-1	ATP5E_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	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 ATP5E 20:57600522..57607437 region Gbrowse