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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 ATP5I:

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
ENSG00000169020	ATP5I	1	0	0	ENSG00000169020	ENST00000515202		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E [Source:HGNC Symbol;Acc:846]	4	666225	668127	-1	p16.3	666225	667910	ATP5I	ATP5I-004	HGNC Symbol	HGNC transcript name	5	57.33	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	521	846	ATP5I		27524

MSeqDR Master Exome Data Set M1: 33 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	4	666255	C	T	ENST00000304312	ENSG00000169020	666225	668127	ENSP00000306003	ATP5I	-1	ATP5I_HUMAN	-	-	3'_UTR	rs138048392	0.00836	T=42/C=8556;T=2/C=4404;T=44/C=12960	-	-	-	-	het	4
2	4	666255	C	T	ENST00000505852	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.272G>A	p.R91Q	non-syn	rs138048392	0.00836	T=42/C=8556;T=2/C=4404;T=44/C=12960	-	-	-	-	het	4
3	4	666255	C	T	ENST00000506525	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.468G>A	p.A156A	syn	rs138048392	0.00836	T=42/C=8556;T=2/C=4404;T=44/C=12960	-	-	-	-	het	4
4	4	666255	C	T	ENST00000515202	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.363G>A	p.A121A	syn	rs138048392	0.00836	T=42/C=8556;T=2/C=4404;T=44/C=12960	-	-	-	-	het	4
5	4	667076	C	G	ENST00000304312	ENSG00000169020	666225	668127	ENSP00000306003	ATP5I	-1	ATP5I_HUMAN	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	het	120
6	4	667076	C	G	ENST00000304312	ENSG00000169020	666225	668127	ENSP00000306003	ATP5I	-1	ATP5I_HUMAN	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	hom	4
7	4	667076	C	G	ENST00000505852	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	het	120
8	4	667076	C	G	ENST00000505852	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	hom	4
9	4	667076	C	G	ENST00000506525	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	het	120
10	4	667076	C	G	ENST00000506525	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	hom	4
11	4	667076	C	G	ENST00000515116	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	het	120
12	4	667076	C	G	ENST00000515116	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	hom	4
13	4	667076	C	G	ENST00000515202	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	het	120
14	4	667076	C	G	ENST00000515202	ENSG00000169020	666225	668127	-	ATP5I	-1	-	-	-	+16bp 5'_splice_site	rs80010815	0.04907	G=506/C=8094;G=56/C=4350;G=562/C=12444	-	-	-	-	hom	4
15	4	667174	C	T	ENST00000304312	ENSG00000169020	666225	668127	ENSP00000306003	ATP5I	-1	ATP5I_HUMAN	c.108G>A	p.R36R	syn	NA	-	-	lod=60:407	-	-	-	het	1
16	4	667174	C	T	ENST00000505852	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.136G>A	p.G46S	non-syn	NA	-	-	lod=60:407	-	-	-	het	1
17	4	667174	C	T	ENST00000506525	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.332G>A	p.G111E	non-syn	NA	-	-	lod=60:407	-	-	-	het	1
18	4	667174	C	T	ENST00000515116	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.139G>A	p.G47S	non-syn	NA	-	-	lod=60:407	-	-	-	het	1
19	4	667174	C	T	ENST00000515202	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.227G>A	p.G76E	non-syn	NA	-	-	lod=60:407	-	-	-	het	1
20	4	667302	T	C	ENST00000506525	ENSG00000169020	666225	668127	-	ATP5I	-1	-	c.309A>G	p.E103E	syn	NA	-	-	-	-	-	-	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 ATP5I 4:666225..668127 region Gbrowse