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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 ENSG00000140521:

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
ENSG00000140521	POLG	1	813	272	ENSG00000140521	ENST00000268124	ENSP00000268124	polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]	15	89859534	89878092	-1	q26.1	89859534	89878078	POLG	POLG-001	HGNC Symbol	HGNC transcript name	13	52.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5428	9179	POLG	NM_001126131	27521

MSeqDR Master Exome Data Set M1: 248 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	15	89859722	G	A	ENST00000268124	ENSG00000140521	89859534	89878092	ENSP00000268124	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	A=0/G=8598;A=1/G=4395;A=1/G=12993	-	-	-	-	het	1
2	15	89859722	G	A	ENST00000442287	ENSG00000140521	89859534	89878092	ENSP00000399851	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	A=0/G=8598;A=1/G=4395;A=1/G=12993	-	-	-	-	het	1
3	15	89859722	G	A	ENST00000530292	ENSG00000140521	89859534	89878092	ENSP00000432885	POLG	-1	-	-	-	3'_UTR	NA	-	A=0/G=8598;A=1/G=4395;A=1/G=12993	-	-	-	-	het	1
4	15	89859860	C	T	ENST00000268124	ENSG00000140521	89859534	89878092	ENSP00000268124	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	15	89859860	C	T	ENST00000442287	ENSG00000140521	89859534	89878092	ENSP00000399851	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	15	89859860	C	T	ENST00000526671	ENSG00000140521	89859534	89878092	-	POLG	-1	-	c.652G>A	p.V218I	non-syn	NA	-	-	-	-	-	-	het	1
7	15	89859860	C	T	ENST00000530292	ENSG00000140521	89859534	89878092	ENSP00000432885	POLG	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	15	89859932	A	+C	ENST00000268124	ENSG00000140521	89859534	89878092	ENSP00000268124	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	474
9	15	89859932	A	+C	ENST00000268124	ENSG00000140521	89859534	89878092	ENSP00000268124	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	129
10	15	89859932	A	+C	ENST00000442287	ENSG00000140521	89859534	89878092	ENSP00000399851	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	474
11	15	89859932	A	+C	ENST00000442287	ENSG00000140521	89859534	89878092	ENSP00000399851	POLG	-1	DPOG1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	129
12	15	89859932	A	+C	ENST00000526671	ENSG00000140521	89859534	89878092	-	POLG	-1	-	c.579_580insG	p.C194NA	non-syn	NA	-	-	-	-	-	-	het	474
13	15	89859932	A	+C	ENST00000526671	ENSG00000140521	89859534	89878092	-	POLG	-1	-	c.579_580insG	p.C194NA	non-syn	NA	-	-	-	-	-	-	hom	129
14	15	89859932	A	+C	ENST00000530292	ENSG00000140521	89859534	89878092	ENSP00000432885	POLG	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	474
15	15	89859932	A	+C	ENST00000530292	ENSG00000140521	89859534	89878092	ENSP00000432885	POLG	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	129
16	15	89859994	C	A	ENST00000268124	ENSG00000140521	89859534	89878092	ENSP00000268124	POLG	-1	DPOG1_HUMAN	c.3708G>T	p.Q1236H	non-syn	rs3087374	0.06944	A=697/C=7901;A=77/C=4323;A=774/C=12224	lod=26:317	DAMAGING	D	-	hom	18
17	15	89859994	C	A	ENST00000268124	ENSG00000140521	89859534	89878092	ENSP00000268124	POLG	-1	DPOG1_HUMAN	c.3708G>T	p.Q1236H	non-syn	rs3087374	0.06944	A=697/C=7901;A=77/C=4323;A=774/C=12224	lod=26:317	DAMAGING	D	-	het	138
18	15	89859994	C	A	ENST00000442287	ENSG00000140521	89859534	89878092	ENSP00000399851	POLG	-1	DPOG1_HUMAN	c.3708G>T	p.Q1236H	non-syn	rs3087374	0.06944	A=697/C=7901;A=77/C=4323;A=774/C=12224	lod=26:317	DAMAGING	D	-	hom	18
19	15	89859994	C	A	ENST00000442287	ENSG00000140521	89859534	89878092	ENSP00000399851	POLG	-1	DPOG1_HUMAN	c.3708G>T	p.Q1236H	non-syn	rs3087374	0.06944	A=697/C=7901;A=77/C=4323;A=774/C=12224	lod=26:317	DAMAGING	D	-	het	138
20	15	89859994	C	A	ENST00000526671	ENSG00000140521	89859534	89878092	-	POLG	-1	-	c.518G>T	p.S173I	non-syn	rs3087374	0.06944	A=697/C=7901;A=77/C=4323;A=774/C=12224	lod=26:317	DAMAGING	D	-	hom	18

** 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 POLG 15:89859534..89878092 region Gbrowse