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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 PCNA:

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
ENSG00000132646	PCNA	0	0	1	ENSG00000132646	ENST00000379143	ENSP00000368438	proliferating cell nuclear antigen [Source:HGNC Symbol;Acc:8729]	20	5095599	5107272	-1	p12.3	5095599	5100672	PCNA	PCNA-001	HGNC Symbol	HGNC transcript name	2	42.54	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5111	8729	PCNA	NM_182649	27522

MSeqDR Master Exome Data Set M1: 26 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	20	5095771	C	G	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs3626	0.2428	-	-	-	-	-	hom	15
2	20	5095771	C	G	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs3626	0.2428	-	-	-	-	-	het	152
3	20	5095771	C	G	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs3626	0.2428	-	-	-	-	-	hom	15
4	20	5095771	C	G	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs3626	0.2428	-	-	-	-	-	het	152
5	20	5095780	G	A	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs8632	0.145	-	-	-	-	-	het	6
6	20	5095780	G	A	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs8632	0.145	-	-	-	-	-	hom	1
7	20	5095780	G	A	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs8632	0.145	-	-	-	-	-	het	6
8	20	5095780	G	A	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	3'_UTR	rs8632	0.145	-	-	-	-	-	hom	1
9	20	5095989	C	T	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	c.726G>A	p.A242A	syn	rs147737215	-	T=1/C=8599;T=14/C=4392;T=15/C=12991	lod=307:581	-	-	-	het	3
10	20	5095989	C	T	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	c.726G>A	p.A242A	syn	rs147737215	-	T=1/C=8599;T=14/C=4392;T=15/C=12991	lod=307:581	-	-	-	het	3
11	20	5096099	G	C	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	c.702C>G	p.P234P	syn	rs17353	0.00181	C=19/G=8581;C=5/G=4401;C=24/G=12982	lod=762:678	-	-	-	het	2
12	20	5096099	G	C	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	c.702C>G	p.P234P	syn	rs17353	0.00181	C=19/G=8581;C=5/G=4401;C=24/G=12982	lod=762:678	-	-	-	het	2
13	20	5099516	G	A	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	-4bp 3'_splice_site	rs17349	0.2664	A=935/G=7665;A=1267/G=3139;A=2202/G=10804	-	-	-	-	het	205
14	20	5099516	G	A	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	-4bp 3'_splice_site	rs17349	0.2664	A=935/G=7665;A=1267/G=3139;A=2202/G=10804	-	-	-	-	hom	14
15	20	5099516	G	A	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	-4bp 3'_splice_site	rs17349	0.2664	A=935/G=7665;A=1267/G=3139;A=2202/G=10804	-	-	-	-	het	205
16	20	5099516	G	A	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	-4bp 3'_splice_site	rs17349	0.2664	A=935/G=7665;A=1267/G=3139;A=2202/G=10804	-	-	-	-	hom	14
17	20	5099530	C	A	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
18	20	5099530	C	A	ENST00000379160	ENSG00000132646	5095599	5107272	ENSP00000368458	PCNA	-1	PCNA_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
19	20	5100209	G	C	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	+15bp 5'_splice_site	rs17347	0.2919	C=900/G=7686;C=1256/G=3134;C=2156/G=10820	-	-	-	-	hom	19
20	20	5100209	G	C	ENST00000379143	ENSG00000132646	5095599	5107272	ENSP00000368438	PCNA	-1	PCNA_HUMAN	-	-	+15bp 5'_splice_site	rs17347	0.2919	C=900/G=7686;C=1256/G=3134;C=2156/G=10820	-	-	-	-	het	158

** 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 PCNA 20:5095599..5107272 region Gbrowse