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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 ATP5H:

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
ENSG00000167863	ATP5H	1	0	0	ENSG00000167863	ENST00000580649		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d [Source:HGNC Symbol;Acc:845]	17	73034958	73043080	-1	q25.1	73034958	73037293	ATP5H	ATP5H-003	HGNC Symbol	HGNC transcript name	5	47.61	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	10476	845	ATP5H		27509

MSeqDR Master Exome Data Set M1: 39 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	17	73035107	A	G	ENST00000301587	ENSG00000167863	73034958	73043080	ENSP00000301587	ATP5H	-1	ATP5H_HUMAN	c.406T>C	p.L136L	syn	rs6968	0.1278	G=6/A=8594;G=544/A=3862;G=550/A=12456	lod=246:558	-	-	-	het	10
2	17	73035107	A	G	ENST00000301587	ENSG00000167863	73034958	73043080	ENSP00000301587	ATP5H	-1	ATP5H_HUMAN	c.406T>C	p.L136L	syn	rs6968	0.1278	G=6/A=8594;G=544/A=3862;G=550/A=12456	lod=246:558	-	-	-	hom	1
3	17	73035107	A	G	ENST00000344546	ENSG00000167863	73034958	73043080	ENSP00000344230	ATP5H	-1	ATP5H_HUMAN	c.334T>C	p.L112L	syn	rs6968	0.1278	G=6/A=8594;G=544/A=3862;G=550/A=12456	lod=246:558	-	-	-	het	10
4	17	73035107	A	G	ENST00000344546	ENSG00000167863	73034958	73043080	ENSP00000344230	ATP5H	-1	ATP5H_HUMAN	c.334T>C	p.L112L	syn	rs6968	0.1278	G=6/A=8594;G=544/A=3862;G=550/A=12456	lod=246:558	-	-	-	hom	1
5	17	73035107	A	G	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.2042T>C	p.L681P	non-syn	rs6968	0.1278	G=6/A=8594;G=544/A=3862;G=550/A=12456	lod=246:558	-	-	-	het	10
6	17	73035107	A	G	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.2042T>C	p.L681P	non-syn	rs6968	0.1278	G=6/A=8594;G=544/A=3862;G=550/A=12456	lod=246:558	-	-	-	hom	1
7	17	73035127	T	G	ENST00000301587	ENSG00000167863	73034958	73043080	ENSP00000301587	ATP5H	-1	ATP5H_HUMAN	c.386A>C	p.D129A	non-syn	NA	-	-	lod=150:505	DAMAGING	P	-	het	2
8	17	73035127	T	G	ENST00000344546	ENSG00000167863	73034958	73043080	ENSP00000344230	ATP5H	-1	ATP5H_HUMAN	c.314A>C	p.D105A	non-syn	NA	-	-	lod=150:505	DAMAGING	P	-	het	2
9	17	73035127	T	G	ENST00000538432	ENSG00000167863	73034958	73043080	ENSP00000437996	ATP5H	-1	-	-	-	3'_UTR	NA	-	-	lod=150:505	DAMAGING	P	-	het	2
10	17	73035127	T	G	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.2022A>C	p.*674C	non-syn	NA	-	-	lod=150:505	DAMAGING	P	-	het	2
11	17	73035503	C	T	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.1791G>A	p.A597A	syn	rs2291535	0.3884	-	-	-	-	-	het	93
12	17	73035503	C	T	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.1791G>A	p.A597A	syn	rs2291535	0.3884	-	-	-	-	-	hom	15
13	17	73036111	T	C	ENST00000538432	ENSG00000167863	73034958	73043080	ENSP00000437996	ATP5H	-1	-	c.245A>G	p.*82W	non-syn	NA	-	-	-	-	-	-	het	1
14	17	73036111	T	C	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.1183A>G	p.R395G	non-syn	NA	-	-	-	-	-	-	het	1
15	17	73036221	T	C	ENST00000301587	ENSG00000167863	73034958	73043080	ENSP00000301587	ATP5H	-1	ATP5H_HUMAN	c.257A>G	p.Y86C	non-syn	rs141770830	-	C=4/T=8596;C=0/T=4406;C=4/T=13002	lod=150:505	DAMAGING	D	-	het	1
16	17	73036221	T	C	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.1073A>G	p.Y358C	non-syn	rs141770830	-	C=4/T=8596;C=0/T=4406;C=4/T=13002	lod=150:505	DAMAGING	D	-	het	1
17	17	73036322	G	A	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.972C>T	p.D324D	syn	rs117189411	0.02122	A=75/G=3107;A=6/G=1378;A=81/G=4485	-	-	-	-	het	23
18	17	73036387	A	G	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.907T>C	p.S303P	non-syn	NA	-	-	-	-	-	-	het	4
19	17	73036390	T	C	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.904A>G	p.M302V	non-syn	NA	-	-	-	-	-	-	het	1
20	17	73036416	C	T	ENST00000580649	ENSG00000167863	73034958	73043080	-	ATP5H	-1	-	c.878G>A	p.R293H	non-syn	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 ATP5H 17:73034958..73043080 region Gbrowse