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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 DGUOK:

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
ENSG00000114956	DGUOK	1	65	21	ENSG00000114956	ENST00000264093	ENSP00000264093	deoxyguanosine kinase [Source:HGNC Symbol;Acc:2858]	2	74153953	74186088	1	p13.1	74153953	74186088	DGUOK	DGUOK-001	HGNC Symbol	HGNC transcript name	8	42.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1716	2858	DGUOK	NM_080916	27508

MSeqDR Master Exome Data Set M1: 139 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	2	74153976	C	+AGCG	ENST00000264093	ENSG00000114956	74153953	74186088	ENSP00000264093	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
2	2	74153976	C	+AGCG	ENST00000348222	ENSG00000114956	74153953	74186088	ENSP00000306964	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
3	2	74153990	G	A	ENST00000264093	ENSG00000114956	74153953	74186088	ENSP00000264093	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	rs10186730	0.0921	A=5/G=8595;A=654/G=3752;A=659/G=12347	lod=21:295	-	-	-	het	11
4	2	74153990	G	A	ENST00000264093	ENSG00000114956	74153953	74186088	ENSP00000264093	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	rs10186730	0.0921	A=5/G=8595;A=654/G=3752;A=659/G=12347	lod=21:295	-	-	-	hom	1
5	2	74153990	G	A	ENST00000348222	ENSG00000114956	74153953	74186088	ENSP00000306964	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	rs10186730	0.0921	A=5/G=8595;A=654/G=3752;A=659/G=12347	lod=21:295	-	-	-	het	11
6	2	74153990	G	A	ENST00000348222	ENSG00000114956	74153953	74186088	ENSP00000306964	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	rs10186730	0.0921	A=5/G=8595;A=654/G=3752;A=659/G=12347	lod=21:295	-	-	-	hom	1
7	2	74154033	G	T	ENST00000264093	ENSG00000114956	74153953	74186088	ENSP00000264093	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
8	2	74154033	G	T	ENST00000348222	ENSG00000114956	74153953	74186088	ENSP00000306964	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
9	2	74154033	G	T	ENST00000418996	ENSG00000114956	74153953	74186088	ENSP00000408209	DGUOK	1	-	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
10	2	74154033	G	T	ENST00000462551	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.14G>T	p.G5V	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
11	2	74154033	G	T	ENST00000462685	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.10G>T	p.V4L	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
12	2	74154033	G	T	ENST00000489796	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.13G>T	p.V5L	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
13	2	74154037	G	A	ENST00000264093	ENSG00000114956	74153953	74186088	ENSP00000264093	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
14	2	74154037	G	A	ENST00000348222	ENSG00000114956	74153953	74186088	ENSP00000306964	DGUOK	1	DGUOK_HUMAN	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
15	2	74154037	G	A	ENST00000356837	ENSG00000114956	74153953	74186088	ENSP00000349294	DGUOK	1	-	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
16	2	74154037	G	A	ENST00000418996	ENSG00000114956	74153953	74186088	ENSP00000408209	DGUOK	1	-	-	-	5'_UTR	NA	-	-	lod=27:321	-	-	-	het	1
17	2	74154037	G	A	ENST00000462551	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.18G>A	p.G6G	syn	NA	-	-	lod=27:321	-	-	-	het	1
18	2	74154037	G	A	ENST00000462685	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.14G>A	p.G5E	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
19	2	74154037	G	A	ENST00000489796	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.17G>A	p.G6E	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
20	2	74154037	G	A	ENST00000493055	ENSG00000114956	74153953	74186088	-	DGUOK	1	-	c.3G>A	p.G1G	syn	NA	-	-	lod=27:321	-	-	-	het	1

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Transcripts and variants in the surrounding DGUOK 2:74153953..74186088 region Gbrowse