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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 PDP1:

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
ENSG00000164951	PDP1	1	48	4	ENSG00000164951	ENST00000523021		pyruvate dehyrogenase phosphatase catalytic subunit 1 [Source:HGNC Symbol;Acc:9279]	8	94870035	94938294	1	q22.1	94870035	94933576	PDP1	PDP1-005	HGNC Symbol	HGNC transcript name	10	42.9	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	PUTATIVE	54704	9279	PDP1		27523

MSeqDR Master Exome Data Set M1: 140 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	8	94929091	C	A	ENST00000297598	ENSG00000164951	94870035	94938294	ENSP00000297598	PDP1	1	PDP1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
2	8	94929091	C	A	ENST00000297598	ENSG00000164951	94870035	94938294	ENSP00000297598	PDP1	1	PDP1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
3	8	94929091	C	A	ENST00000520614	ENSG00000164951	94870035	94938294	ENSP00000430931	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
4	8	94929091	C	A	ENST00000520614	ENSG00000164951	94870035	94938294	ENSP00000430931	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
5	8	94929333	G	T	ENST00000396200	ENSG00000164951	94870035	94938294	ENSP00000379503	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	8	94929333	G	T	ENST00000518107	ENSG00000164951	94870035	94938294	ENSP00000430366	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
7	8	94929333	G	T	ENST00000518573	ENSG00000164951	94870035	94938294	ENSP00000428433	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
8	8	94929414	G	T	ENST00000396200	ENSG00000164951	94870035	94938294	ENSP00000379503	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	8	94929414	G	T	ENST00000518107	ENSG00000164951	94870035	94938294	ENSP00000430366	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
10	8	94929414	G	T	ENST00000518573	ENSG00000164951	94870035	94938294	ENSP00000428433	PDP1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	8	94930026	C	T	ENST00000517764	ENSG00000164951	94870035	94938294	ENSP00000430380	PDP1	1	PDP1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	8	94930058	G	T	ENST00000517764	ENSG00000164951	94870035	94938294	ENSP00000430380	PDP1	1	PDP1_HUMAN	-	-	5'_UTR	NA	-	-	lod=709:671	-	-	-	het	2
13	8	94934501	G	T	ENST00000297598	ENSG00000164951	94870035	94938294	ENSP00000297598	PDP1	1	PDP1_HUMAN	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
14	8	94934501	G	T	ENST00000396200	ENSG00000164951	94870035	94938294	ENSP00000379503	PDP1	1	-	c.289G>T	p.A97S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
15	8	94934501	G	T	ENST00000517764	ENSG00000164951	94870035	94938294	ENSP00000430380	PDP1	1	PDP1_HUMAN	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
16	8	94934501	G	T	ENST00000518107	ENSG00000164951	94870035	94938294	ENSP00000430366	PDP1	1	-	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
17	8	94934501	G	T	ENST00000518573	ENSG00000164951	94870035	94938294	ENSP00000428433	PDP1	1	-	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
18	8	94934501	G	T	ENST00000518827	ENSG00000164951	94870035	94938294	ENSP00000430655	PDP1	1	-	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
19	8	94934501	G	T	ENST00000520614	ENSG00000164951	94870035	94938294	ENSP00000430931	PDP1	1	-	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	B	-	het	2
20	8	94934501	G	T	ENST00000520728	ENSG00000164951	94870035	94938294	ENSP00000428317	PDP1	1	PDP1_HUMAN	c.214G>T	p.A72S	non-syn	NA	-	-	lod=42:369	TOLERATED	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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Transcripts and variants in the surrounding PDP1 8:94870035..94938294 region Gbrowse