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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 ATP5F1:

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
ENSG00000116459	ATP5F1	1	0	0	ENSG00000116459	ENST00000493119		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 [Source:HGNC Symbol;Acc:840]	1	111991486	112005395	1	p13.2	111991486	111998767	ATP5F1	ATP5F1-003	HGNC Symbol	HGNC transcript name	6	39.38	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	515	840	ATP5F1		27511

MSeqDR Master Exome Data Set M1: 130 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	1	111991508	G	A	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.23G>A	p.R8Q	non-syn	NA	-	-	-	-	-	-	het	2
2	1	111991531	C	G	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.46C>G	p.R16G	non-syn	NA	-	-	-	-	-	-	het	2
3	1	111991540	G	A	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.55G>A	p.G19R	non-syn	rs188935686	0.007	-	-	-	-	-	het	13
4	1	111991768	G	A	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	rs11548427	0.1092	A=302/G=7070;A=35/G=3415;A=337/G=10485	-	-	-	-	het	51
5	1	111991768	G	A	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	rs11548427	0.1092	A=302/G=7070;A=35/G=3415;A=337/G=10485	-	-	-	-	hom	3
6	1	111991832	C	G	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	1	111991832	C	G	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.102C>G	p.A34A	syn	NA	-	-	-	-	-	-	het	1
8	1	111991845	C	A	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	rs1270853	0.6143	-	-	-	-	-	hom	128
9	1	111991845	C	A	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	rs1270853	0.6143	-	-	-	-	-	het	372
10	1	111991845	C	A	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.115C>A	p.R39S	non-syn	rs1270853	0.6143	-	-	-	-	-	hom	128
11	1	111991845	C	A	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.115C>A	p.R39S	non-syn	rs1270853	0.6143	-	-	-	-	-	het	372
12	1	111991919	C	A	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	1
13	1	111991919	C	A	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.189C>A	p.F63L	non-syn	NA	-	-	lod=40:363	-	-	-	het	1
14	1	111991949	T	C	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
15	1	111991949	T	C	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.219T>C	p.P73P	syn	NA	-	-	-	-	-	-	het	2
16	1	111991983	T	C	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	1	111991983	T	C	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.253T>C	p.S85P	non-syn	NA	-	-	-	-	-	-	het	1
18	1	111992011	A	-T	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	1	111992011	A	-T	ENST00000493119	ENSG00000116459	111991486	112005395	-	ATP5F1	1	-	c.282_282del	p.N94NA	non-syn	NA	-	-	-	-	-	-	het	1
20	1	111992019	T	A	ENST00000369722	ENSG00000116459	111991486	112005395	ENSP00000358737	ATP5F1	1	AT5F1_HUMAN	-	-	5'_UTR	rs2298187	0.1177	-	-	-	-	-	hom	8

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Transcripts and variants in the surrounding ATP5F1 1:111991486..112005395 region Gbrowse