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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 ENSG00000100889:

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
ENSG00000100889	PCK2	1	11	0	ENSG00000100889	ENST00000559250	ENSP00000453444	phosphoenolpyruvate carboxykinase 2 (mitochondrial) [Source:HGNC Symbol;Acc:8725]	14	24563262	24579807	1	q11.2	24563262	24573334	PCK2	PCK2-003	HGNC Symbol	HGNC transcript name	16	49.19	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	5106	8725	PCK2		27520

MSeqDR Master Exome Data Set M1: 400 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	14	24563301	G	A	ENST00000559250	ENSG00000100889	24563262	24579807	ENSP00000453444	PCK2	1	-	c.24G>A	p.S8S	syn	NA	-	-	-	-	-	-	het	2
2	14	24563339	A	G	ENST00000559250	ENSG00000100889	24563262	24579807	ENSP00000453444	PCK2	1	-	c.62A>G	p.D21G	non-syn	rs4982857	0.9773	-	-	-	-	-	hom	688
3	14	24563339	A	G	ENST00000559250	ENSG00000100889	24563262	24579807	ENSP00000453444	PCK2	1	-	c.62A>G	p.D21G	non-syn	rs4982857	0.9773	-	-	-	-	-	het	16
4	14	24563620	C	T	ENST00000216780	ENSG00000100889	24563262	24579807	ENSP00000216780	PCK2	1	PCKGM_HUMAN	c.6C>T	p.A2A	syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
5	14	24563620	C	T	ENST00000396973	ENSG00000100889	24563262	24579807	ENSP00000380171	PCK2	1	PCKGM_HUMAN	c.6C>T	p.A2A	syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
6	14	24563620	C	T	ENST00000545054	ENSG00000100889	24563262	24579807	ENSP00000441826	PCK2	1	-	-	-	5'_UTR	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
7	14	24563620	C	T	ENST00000558096	ENSG00000100889	24563262	24579807	ENSP00000453656	PCK2	1	-	-	-	5'_UTR	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
8	14	24563620	C	T	ENST00000558674	ENSG00000100889	24563262	24579807	-	PCK2	1	-	c.99C>T	p.A33A	syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
9	14	24563620	C	T	ENST00000559584	ENSG00000100889	24563262	24579807	ENSP00000452748	PCK2	1	-	c.6C>T	p.A2A	syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
10	14	24563620	C	T	ENST00000560106	ENSG00000100889	24563262	24579807	ENSP00000454020	PCK2	1	-	c.6C>T	p.A2A	syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
11	14	24563620	C	T	ENST00000560657	ENSG00000100889	24563262	24579807	-	PCK2	1	-	c.62C>T	p.P21L	non-syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
12	14	24563620	C	T	ENST00000561050	ENSG00000100889	24563262	24579807	-	PCK2	1	-	c.101C>T	p.P34L	non-syn	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
13	14	24563620	C	T	ENST00000561286	ENSG00000100889	24563262	24579807	ENSP00000454011	PCK2	1	-	-	-	5'_UTR	rs77298044	0.0355	T=256/C=8032;T=28/C=4238;T=284/C=12270	lod=190:530	-	-	-	het	24
14	14	24563621	G	A	ENST00000216780	ENSG00000100889	24563262	24579807	ENSP00000216780	PCK2	1	PCKGM_HUMAN	c.7G>A	p.A3T	non-syn	NA	-	-	lod=190:530	DAMAGING	B	-	het	2
15	14	24563621	G	A	ENST00000396973	ENSG00000100889	24563262	24579807	ENSP00000380171	PCK2	1	PCKGM_HUMAN	c.7G>A	p.A3T	non-syn	NA	-	-	lod=190:530	DAMAGING	B	-	het	2
16	14	24563621	G	A	ENST00000545054	ENSG00000100889	24563262	24579807	ENSP00000441826	PCK2	1	-	-	-	5'_UTR	NA	-	-	lod=190:530	DAMAGING	B	-	het	2
17	14	24563621	G	A	ENST00000558096	ENSG00000100889	24563262	24579807	ENSP00000453656	PCK2	1	-	-	-	5'_UTR	NA	-	-	lod=190:530	DAMAGING	B	-	het	2
18	14	24563621	G	A	ENST00000558674	ENSG00000100889	24563262	24579807	-	PCK2	1	-	c.100G>A	p.A34T	non-syn	NA	-	-	lod=190:530	DAMAGING	B	-	het	2
19	14	24563621	G	A	ENST00000559584	ENSG00000100889	24563262	24579807	ENSP00000452748	PCK2	1	-	c.7G>A	p.A3T	non-syn	NA	-	-	lod=190:530	DAMAGING	B	-	het	2
20	14	24563621	G	A	ENST00000560106	ENSG00000100889	24563262	24579807	ENSP00000454020	PCK2	1	-	c.7G>A	p.A3T	non-syn	NA	-	-	lod=190:530	DAMAGING	B	-	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 PCK2 14:24563262..24579807 region Gbrowse