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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 ATP5A1:

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
ENSG00000152234	ATP5A1	1	5	3	ENSG00000152234	ENST00000589611		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle [Source:HGNC Symbol;Acc:823]	18	43664110	43684300	-1	q21.1	43669395	43672164	ATP5A1	ATP5A1-010	HGNC Symbol	HGNC transcript name	20	44.38	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	498	823	ATP5A1		27512

MSeqDR Master Exome Data Set M1: 372 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	18	43664115	T	C	ENST00000282050	ENSG00000152234	43664110	43684300	ENSP00000282050	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	rs12954944	0.35165	-	-	-	-	-	het	162
2	18	43664115	T	C	ENST00000282050	ENSG00000152234	43664110	43684300	ENSP00000282050	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	rs12954944	0.35165	-	-	-	-	-	hom	96
3	18	43664153	C	T	ENST00000282050	ENSG00000152234	43664110	43684300	ENSP00000282050	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	2
4	18	43664153	C	T	ENST00000398752	ENSG00000152234	43664110	43684300	ENSP00000381736	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	2
5	18	43664153	C	T	ENST00000586523	ENSG00000152234	43664110	43684300	-	ATP5A1	-1	-	c.4510G>A	p.V1504I	non-syn	NA	-	-	lod=76:432	-	-	-	het	2
6	18	43664153	C	T	ENST00000586592	ENSG00000152234	43664110	43684300	ENSP00000466275	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	2
7	18	43664153	C	T	ENST00000590156	ENSG00000152234	43664110	43684300	ENSP00000466309	ATP5A1	-1	-	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	2
8	18	43664153	C	T	ENST00000590665	ENSG00000152234	43664110	43684300	ENSP00000467037	ATP5A1	-1	-	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	2
9	18	43664153	C	T	ENST00000593152	ENSG00000152234	43664110	43684300	ENSP00000465477	ATP5A1	-1	-	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	2
10	18	43664173	C	A	ENST00000282050	ENSG00000152234	43664110	43684300	ENSP00000282050	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	rs15042	0.0216	-	-	-	-	-	het	1
11	18	43664173	C	A	ENST00000398752	ENSG00000152234	43664110	43684300	ENSP00000381736	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	rs15042	0.0216	-	-	-	-	-	het	1
12	18	43664173	C	A	ENST00000586523	ENSG00000152234	43664110	43684300	-	ATP5A1	-1	-	c.4490G>T	p.G1497V	non-syn	rs15042	0.0216	-	-	-	-	-	het	1
13	18	43664173	C	A	ENST00000586592	ENSG00000152234	43664110	43684300	ENSP00000466275	ATP5A1	-1	ATPA_HUMAN	-	-	3'_UTR	rs15042	0.0216	-	-	-	-	-	het	1
14	18	43664173	C	A	ENST00000590156	ENSG00000152234	43664110	43684300	ENSP00000466309	ATP5A1	-1	-	-	-	3'_UTR	rs15042	0.0216	-	-	-	-	-	het	1
15	18	43664173	C	A	ENST00000590665	ENSG00000152234	43664110	43684300	ENSP00000467037	ATP5A1	-1	-	-	-	3'_UTR	rs15042	0.0216	-	-	-	-	-	het	1
16	18	43664173	C	A	ENST00000593152	ENSG00000152234	43664110	43684300	ENSP00000465477	ATP5A1	-1	-	-	-	3'_UTR	rs15042	0.0216	-	-	-	-	-	het	1
17	18	43664349	G	A	ENST00000282050	ENSG00000152234	43664110	43684300	ENSP00000282050	ATP5A1	-1	ATPA_HUMAN	-	-	-20bp 3'_splice_site	rs188588885	0.00184	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
18	18	43664349	G	A	ENST00000398752	ENSG00000152234	43664110	43684300	ENSP00000381736	ATP5A1	-1	ATPA_HUMAN	-	-	-20bp 3'_splice_site	rs188588885	0.00184	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
19	18	43664349	G	A	ENST00000586523	ENSG00000152234	43664110	43684300	-	ATP5A1	-1	-	c.4314C>T	p.T1438T	syn	rs188588885	0.00184	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
20	18	43664349	G	A	ENST00000586592	ENSG00000152234	43664110	43684300	ENSP00000466275	ATP5A1	-1	ATPA_HUMAN	-	-	-20bp 3'_splice_site	rs188588885	0.00184	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	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 ATP5A1 18:43664110..43684300 region Gbrowse