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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 CPOX:

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
ENSG00000080819	CPOX	1	0	12	ENSG00000080819	ENST00000512905	ENSP00000425880	coproporphyrinogen oxidase [Source:HGNC Symbol;Acc:2321]	3	98239976	98312567	-1	q12.1	98239976	98304342	CPOX	CPOX-005	HGNC Symbol	HGNC transcript name	5	38.07	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	1371	2321	CPOX		27517

MSeqDR Master Exome Data Set M1: 95 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	3	98240123	C	G	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	3'_UTR	NA	-	-	lod=223:547	TOLERATED	NA	-	het	1
2	3	98240239	T	C	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	3'_UTR	NA	-	-	lod=221:546	-	-	-	het	1
3	3	98240297	G	T	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
4	3	98281203	A	T	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	3'_UTR	rs141225979	0.00186	-	-	-	-	-	het	2
5	3	98281293	C	T	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	-7bp 3'_splice_site	rs146941882	0.0029	-	-	-	-	-	het	2
6	3	98281293	C	T	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	-7bp 3'_splice_site	rs146941882	0.0029	-	-	-	-	-	hom	1
7	3	98281299	A	-C	ENST00000512905	ENSG00000080819	98239976	98312567	ENSP00000425880	CPOX	-1	-	-	-	-13bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
8	3	98298422	T	C	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs73133922	0.00836	-	-	-	-	-	het	12
9	3	98298455	G	A	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs148251059	0.0105	-	-	-	-	-	het	21
10	3	98298588	T	C	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	3	98298600	C	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs7103	0.34701	-	-	-	-	-	hom	87
12	3	98298600	C	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs7103	0.34701	-	-	-	-	-	het	312
13	3	98298848	C	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs72924722	0.069	-	-	-	-	-	het	23
14	3	98298848	C	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs72924722	0.069	-	-	-	-	-	hom	1
15	3	98298932	G	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs183311654	0.0044	-	-	-	-	-	het	1
16	3	98298948	T	+TAAGAAAA	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	3	98298948	T	+TAAGAA	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs3840202	-	-	-	-	-	-	het	553
18	3	98298948	T	+TAAGAA	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs3840202	-	-	-	-	-	-	hom	32
19	3	98299052	A	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs72924726	0.046	-	-	-	-	-	hom	1
20	3	98299052	A	T	ENST00000264193	ENSG00000080819	98239976	98312567	ENSP00000264193	CPOX	-1	HEM6_HUMAN	-	-	3'_UTR	rs72924726	0.046	-	-	-	-	-	het	19

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding CPOX 3:98239976..98312567 region Gbrowse