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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 ATP5J:

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
ENSG00000154723	ATP5J	1	0	0	ENSG00000154723	ENST00000400099	ENSP00000382971	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 [Source:HGNC Symbol;Acc:847]	21	27088815	27107984	-1	q21.3	27088815	27107338	ATP5J	ATP5J-004	HGNC Symbol	HGNC transcript name	8	41.96	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	522	847	ATP5J		27505

MSeqDR Master Exome Data Set M1: 67 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	21	27088847	A	G	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	-	-	3'_UTR	rs2829882	0.84981	-	-	-	-	-	hom	465
2	21	27088847	A	G	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	-	-	3'_UTR	rs2829882	0.84981	-	-	-	-	-	het	162
3	21	27088848	C	+AT	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	-	-	3'_UTR	rs57848930	-	-	-	-	-	-	het	12
4	21	27088848	C	+AT	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	-	-	3'_UTR	rs57848930	-	-	-	-	-	-	hom	2
5	21	27088861	G	A	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	-	-	3'_UTR	rs117079444	0.00638	-	-	-	-	-	het	6
6	21	27089964	C	T	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	-	-	+9bp 5'_splice_site	rs73335982	0.0254	T=1/C=3981;T=57/C=1695;T=58/C=5676	lod=73:428	-	-	-	het	2
7	21	27090065	A	T	ENST00000400099	ENSG00000154723	27088815	27107984	ENSP00000382971	ATP5J	-1	-	c.296T>A	p.F99Y	non-syn	rs73897037	0.0716	T=0/A=3982;T=147/A=1605;T=147/A=5587	-	DAMAGING	-	-	het	6
8	21	27096840	C	-AG	ENST00000284971	ENSG00000154723	27088815	27107984	ENSP00000284971	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	21	27096840	C	-AG	ENST00000400087	ENSG00000154723	27088815	27107984	ENSP00000382959	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	21	27096840	C	-AG	ENST00000400090	ENSG00000154723	27088815	27107984	ENSP00000382962	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	21	27096840	C	-AG	ENST00000400093	ENSG00000154723	27088815	27107984	ENSP00000382965	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	21	27096840	C	-AG	ENST00000400094	ENSG00000154723	27088815	27107984	ENSP00000382966	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	21	27096840	C	-AG	ENST00000457143	ENSG00000154723	27088815	27107984	ENSP00000389649	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	21	27096872	T	G	ENST00000284971	ENSG00000154723	27088815	27107984	ENSP00000284971	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	21	27096872	T	G	ENST00000400087	ENSG00000154723	27088815	27107984	ENSP00000382959	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	21	27096872	T	G	ENST00000400090	ENSG00000154723	27088815	27107984	ENSP00000382962	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	21	27096872	T	G	ENST00000400093	ENSG00000154723	27088815	27107984	ENSP00000382965	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	21	27096872	T	G	ENST00000400094	ENSG00000154723	27088815	27107984	ENSP00000382966	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	21	27096872	T	G	ENST00000457143	ENSG00000154723	27088815	27107984	ENSP00000389649	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	21	27096915	C	T	ENST00000284971	ENSG00000154723	27088815	27107984	ENSP00000284971	ATP5J	-1	ATP5J_HUMAN	-	-	3'_UTR	rs200700811	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	-	-	-	-	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 ATP5J 21:27088815..27107984 region Gbrowse