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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 ATP7A:

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
ENSG00000269395	ATP7A	0	0	119	ENSG00000269395	ENST00000596158	ENSP00000469649	ATPase, Cu++ transporting, alpha polypeptide [Source:HGNC Symbol;Acc:869]	HG1426_PATCH	77171651	77311349	1	q21.1	77171651	77311349	ATP7A	ATP7A-203	HGNC Symbol	HGNC transcript name	3	38.6	protein_coding	protein_coding	ensembl_hava	ensembl	KNOWN	KNOWN	538	869	ATP7A	NM_001282224	0
ENSG00000165240	ATP7A	0	0	119	ENSG00000165240	ENST00000341514	ENSP00000345728	ATPase, Cu++ transporting, alpha polypeptide [Source:HGNC Symbol;Acc:869]	X	77166194	77305892	1	q21.1	77166199	77305892	ATP7A	ATP7A-001	HGNC Symbol	HGNC transcript name	3	38.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	538	869	ATP7A	NM_000052	27516

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MSeqDR Master Exome Data Set M1: 159 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	X	77243855	C	T	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.238C>T	p.P80S	non-syn	NA	-	-	lod=23:304	TOLERATED	B	-	het	1
2	X	77243855	C	T	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.238C>T	p.P80S	non-syn	NA	-	-	lod=23:304	TOLERATED	B	-	het	1
3	X	77243929	A	G	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.312A>G	p.Q104Q	syn	rs146414063	-	G=2/A=6721;G=0/A=3835;G=2/A=10556	lod=97:458	-	-	-	het	1
4	X	77243929	A	G	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.312A>G	p.Q104Q	syn	rs146414063	-	G=2/A=6721;G=0/A=3835;G=2/A=10556	lod=97:458	-	-	-	het	1
5	X	77243944	G	A	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.327G>A	p.K109K	syn	rs61747968	0.0048	A=115/G=6608;A=3/G=3832;A=118/G=10440	lod=97:458	-	-	-	het	10
6	X	77243944	G	A	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.327G>A	p.K109K	syn	rs61747968	0.0048	A=115/G=6608;A=3/G=3832;A=118/G=10440	lod=97:458	-	-	-	hom	9
7	X	77243944	G	A	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.327G>A	p.K109K	syn	rs61747968	0.0048	A=115/G=6608;A=3/G=3832;A=118/G=10440	lod=97:458	-	-	-	het	10
8	X	77243944	G	A	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.327G>A	p.K109K	syn	rs61747968	0.0048	A=115/G=6608;A=3/G=3832;A=118/G=10440	lod=97:458	-	-	-	hom	9
9	X	77244235	G	A	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	-	-	+8bp 5'_splice_site	rs144616937	0.01	A=0/G=6721;A=44/G=3791;A=44/G=10512	-	-	-	-	hom	1
10	X	77244235	G	A	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	-	-	+8bp 5'_splice_site	rs144616937	0.01	A=0/G=6721;A=44/G=3791;A=44/G=10512	-	-	-	-	hom	1
11	X	77245118	G	A	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.1000G>A	p.A334T	non-syn	NA	-	A=1/G=6722;A=0/G=3835;A=1/G=10557	lod=82:440	TOLERATED	B	-	hom	1
12	X	77245118	G	A	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.1000G>A	p.A334T	non-syn	NA	-	A=1/G=6722;A=0/G=3835;A=1/G=10557	lod=82:440	TOLERATED	B	-	hom	1
13	X	77245127	G	A	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.1009G>A	p.A337T	non-syn	rs138039591	-	A=3/G=6720;A=0/G=3835;A=3/G=10555	lod=82:440	TOLERATED	B	-	het	2
14	X	77245127	G	A	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.1009G>A	p.A337T	non-syn	rs138039591	-	A=3/G=6720;A=0/G=3835;A=3/G=10555	lod=82:440	TOLERATED	B	-	het	2
15	X	77258581	A	G	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.1555A>G	p.I519V	non-syn	NA	-	-	lod=279:571	TOLERATED	B	-	hom	1
16	X	77258581	A	G	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.1555A>G	p.I519V	non-syn	NA	-	-	lod=279:571	TOLERATED	B	-	hom	1
17	X	77264659	A	G	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.1768A>G	p.R590G	non-syn	rs146887876	0.0046	G=0/A=6723;G=14/A=3821;G=14/A=10544	lod=466:626	TOLERATED	P	-	het	1
18	X	77264659	A	G	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.1768A>G	p.R590G	non-syn	rs146887876	0.0046	G=0/A=6723;G=14/A=3821;G=14/A=10544	lod=466:626	TOLERATED	P	-	het	1
19	X	77264714	A	G	ENST00000341514	ENSG00000165240	77166194	77305892	ENSP00000345728	ATP7A	1	ATP7A_HUMAN	c.1823A>G	p.Y608C	non-syn	rs61742278	0.0164	G=0/A=6723;G=44/A=3791;G=44/A=10514	lod=466:626	DAMAGING	D	-	het	2
20	X	77264714	A	G	ENST00000343533	ENSG00000165240	77166194	77305892	ENSP00000343026	ATP7A	1	ATP7A_HUMAN	c.1823A>G	p.Y608C	non-syn	rs61742278	0.0164	G=0/A=6723;G=44/A=3791;G=44/A=10514	lod=466:626	DAMAGING	D	-	het	2

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Transcripts and variants in the surrounding ATP7A X:77166194..77305892 region Gbrowse