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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 ATP7B:

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
ENSG00000123191	ATP7B	1	0	156	ENSG00000123191	ENST00000242839	ENSP00000242839	ATPase, Cu++ transporting, beta polypeptide [Source:HGNC Symbol;Acc:870]	13	52506809	52585630	-1	q14.3	52506809	52585630	ATP7B	ATP7B-002	HGNC Symbol	HGNC transcript name	11	44.56	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	540	870	ATP7B	NM_000053	27513

MSeqDR Master Exome Data Set M1: 643 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	13	52507110	G	C	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs928169	0.5749	-	-	-	-	-	hom	220
2	13	52507110	G	C	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs928169	0.5749	-	-	-	-	-	het	331
3	13	52507110	G	C	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs928169	0.5749	-	-	-	-	-	hom	220
4	13	52507110	G	C	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs928169	0.5749	-	-	-	-	-	het	331
5	13	52507110	G	C	ENST00000400366	ENSG00000123191	52506809	52585630	ENSP00000383217	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs928169	0.5749	-	-	-	-	-	hom	220
6	13	52507110	G	C	ENST00000400366	ENSG00000123191	52506809	52585630	ENSP00000383217	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs928169	0.5749	-	-	-	-	-	het	331
7	13	52507148	G	A	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs9535794	0.037	-	-	-	-	-	het	58
8	13	52507148	G	A	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs9535794	0.037	-	-	-	-	-	hom	2
9	13	52507148	G	A	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs9535794	0.037	-	-	-	-	-	het	58
10	13	52507148	G	A	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs9535794	0.037	-	-	-	-	-	hom	2
11	13	52507148	G	A	ENST00000400366	ENSG00000123191	52506809	52585630	ENSP00000383217	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs9535794	0.037	-	-	-	-	-	het	58
12	13	52507148	G	A	ENST00000400366	ENSG00000123191	52506809	52585630	ENSP00000383217	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs9535794	0.037	-	-	-	-	-	hom	2
13	13	52507175	C	A	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs77770386	0.0517	-	-	-	-	-	het	3
14	13	52507175	C	A	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs77770386	0.0517	-	-	-	-	-	het	3
15	13	52507175	C	A	ENST00000400366	ENSG00000123191	52506809	52585630	ENSP00000383217	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs77770386	0.0517	-	-	-	-	-	het	3
16	13	52507184	T	C	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs17076111	0.0793	-	-	-	-	-	het	3
17	13	52507184	T	C	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs17076111	0.0793	-	-	-	-	-	het	3
18	13	52507184	T	C	ENST00000400366	ENSG00000123191	52506809	52585630	ENSP00000383217	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs17076111	0.0793	-	-	-	-	-	het	3
19	13	52507370	C	T	ENST00000242839	ENSG00000123191	52506809	52585630	ENSP00000242839	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs191892694	0.0014	-	-	-	-	-	het	2
20	13	52507370	C	T	ENST00000344297	ENSG00000123191	52506809	52585630	ENSP00000342559	ATP7B	-1	ATP7B_HUMAN	-	-	3'_UTR	rs191892694	0.0014	-	-	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ATP7B 13:52506809..52585630 region Gbrowse