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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 PDHX:

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
ENSG00000110435	PDHX	1	14	37	ENSG00000110435	ENST00000533550	ENSP00000431281	pyruvate dehydrogenase complex, component X [Source:HGNC Symbol;Acc:21350]	11	34937376	35042138	1	p13	34937376	34982058	PDHX	PDHX-003	HGNC Symbol	HGNC transcript name	8	36.68	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	8050	21350	PDHX		27504

MSeqDR Master Exome Data Set M1: 241 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	11	34937486	G	C	ENST00000533550	ENSG00000110435	34937376	35042138	ENSP00000431281	PDHX	1	-	-	-	+1bp 5'_splice_site	rs3763930	0.3323	-	-	-	-	-	het	14
2	11	34937486	G	C	ENST00000533550	ENSG00000110435	34937376	35042138	ENSP00000431281	PDHX	1	-	-	-	+1bp 5'_splice_site	rs3763930	0.3323	-	-	-	-	-	hom	4
3	11	34937697	T	C	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2016814	0.7656	-	-	-	-	-	het	194
4	11	34937697	T	C	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2016814	0.7656	-	-	-	-	-	hom	437
5	11	34937698	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs16926448	0.3151	-	-	-	-	-	het	28
6	11	34937698	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs16926448	0.3151	-	-	-	-	-	hom	13
7	11	34937813	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2956114	0.6361	A=3045/G=5543;A=1067/G=3329;A=4112/G=8872	-	TOLERATED	B	-	het	350
8	11	34937813	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2956114	0.6361	A=3045/G=5543;A=1067/G=3329;A=4112/G=8872	-	TOLERATED	B	-	hom	134
9	11	34937832	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	11	34937881	C	T	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	11	34937884	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2956113	0.5241	A=1158/G=2022;A=358/G=1024;A=1516/G=3046	-	-	-	-	het	334
12	11	34937884	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2956113	0.5241	A=1158/G=2022;A=358/G=1024;A=1516/G=3046	-	-	-	-	hom	123
13	11	34937888	C	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	11	34937901	A	G	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2956112	0.765	G=2567/A=609;G=1082/A=300;G=3649/A=909	-	-	-	-	het	259
15	11	34937901	A	G	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	-	-	5'_UTR	rs2956112	0.765	G=2567/A=609;G=1082/A=300;G=3649/A=909	-	-	-	-	hom	504
16	11	34937931	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	c.13G>A	p.G5S	non-syn	rs2956111	0.6241	-	-	DAMAGING	-	-	het	318
17	11	34937931	G	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	c.13G>A	p.G5S	non-syn	rs2956111	0.6241	-	-	DAMAGING	-	-	hom	118
18	11	34937979	T	A	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	c.61T>A	p.S21T	non-syn	NA	-	-	-	TOLERATED	-	-	het	1
19	11	34938001	A	G	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	c.83A>G	p.E28G	non-syn	rs113073242	0.3345	-	-	TOLERATED	-	-	het	131
20	11	34938001	A	G	ENST00000448838	ENSG00000110435	34937376	35042138	ENSP00000389404	PDHX	1	-	c.83A>G	p.E28G	non-syn	rs113073242	0.3345	-	-	TOLERATED	-	-	hom	12

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Transcripts and variants in the surrounding PDHX 11:34937376..35042138 region Gbrowse