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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 PDHA1:

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
ENSG00000131828	PDHA1	1	102	54	ENSG00000131828	ENST00000423505	ENSP00000406473	pyruvate dehydrogenase (lipoamide) alpha 1 [Source:HGNC Symbol;Acc:8806]	X	19362011	19379823	1	p22.12	19362040	19371282	PDHA1	PDHA1-009	HGNC Symbol	HGNC transcript name	13	44.45	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5160	8806	PDHA1		27516

MSeqDR Master Exome Data Set M1: 392 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	X	19362058	C	T	ENST00000379806	ENSG00000131828	19362011	19379823	ENSP00000369134	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs192773464	0.0017	-	-	-	-	-	het	1
2	X	19362058	C	T	ENST00000417819	ENSG00000131828	19362011	19379823	ENSP00000404616	PDHA1	1	-	-	-	5'_UTR	rs192773464	0.0017	-	-	-	-	-	het	1
3	X	19362058	C	T	ENST00000422285	ENSG00000131828	19362011	19379823	ENSP00000394382	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs192773464	0.0017	-	-	-	-	-	het	1
4	X	19362058	C	T	ENST00000423505	ENSG00000131828	19362011	19379823	ENSP00000406473	PDHA1	1	-	-	-	5'_UTR	rs192773464	0.0017	-	-	-	-	-	het	1
5	X	19362058	C	T	ENST00000492364	ENSG00000131828	19362011	19379823	-	PDHA1	1	-	c.5C>T	p.A2V	non-syn	rs192773464	0.0017	-	-	-	-	-	het	1
6	X	19362058	C	T	ENST00000540249	ENSG00000131828	19362011	19379823	ENSP00000440761	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs192773464	0.0017	-	-	-	-	-	het	1
7	X	19362058	C	T	ENST00000545074	ENSG00000131828	19362011	19379823	ENSP00000438550	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs192773464	0.0017	-	-	-	-	-	het	1
8	X	19362068	G	A	ENST00000355808	ENSG00000131828	19362011	19379823	ENSP00000348062	PDHA1	1	-	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	het	29
9	X	19362068	G	A	ENST00000355808	ENSG00000131828	19362011	19379823	ENSP00000348062	PDHA1	1	-	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	hom	19
10	X	19362068	G	A	ENST00000379806	ENSG00000131828	19362011	19379823	ENSP00000369134	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	het	29
11	X	19362068	G	A	ENST00000379806	ENSG00000131828	19362011	19379823	ENSP00000369134	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	hom	19
12	X	19362068	G	A	ENST00000417819	ENSG00000131828	19362011	19379823	ENSP00000404616	PDHA1	1	-	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	het	29
13	X	19362068	G	A	ENST00000417819	ENSG00000131828	19362011	19379823	ENSP00000404616	PDHA1	1	-	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	hom	19
14	X	19362068	G	A	ENST00000422285	ENSG00000131828	19362011	19379823	ENSP00000394382	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	het	29
15	X	19362068	G	A	ENST00000422285	ENSG00000131828	19362011	19379823	ENSP00000394382	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	hom	19
16	X	19362068	G	A	ENST00000423505	ENSG00000131828	19362011	19379823	ENSP00000406473	PDHA1	1	-	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	het	29
17	X	19362068	G	A	ENST00000423505	ENSG00000131828	19362011	19379823	ENSP00000406473	PDHA1	1	-	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	hom	19
18	X	19362068	G	A	ENST00000492364	ENSG00000131828	19362011	19379823	-	PDHA1	1	-	c.15G>A	p.L5L	syn	rs5955751	0.0553	-	-	-	-	-	het	29
19	X	19362068	G	A	ENST00000492364	ENSG00000131828	19362011	19379823	-	PDHA1	1	-	c.15G>A	p.L5L	syn	rs5955751	0.0553	-	-	-	-	-	hom	19
20	X	19362068	G	A	ENST00000540249	ENSG00000131828	19362011	19379823	ENSP00000440761	PDHA1	1	ODPA_HUMAN	-	-	5'_UTR	rs5955751	0.0553	-	-	-	-	-	het	29

** 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,
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Transcripts and variants in the surrounding PDHA1 X:19362011..19379823 region Gbrowse