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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 DOLK:

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
ENSG00000175283	DOLK	1	0	21	ENSG00000175283	ENST00000372586	ENSP00000361667	dolichol kinase [Source:HGNC Symbol;Acc:23406]	9	131707809	131709898	-1	q34.11	131707809	131709898	DOLK	DOLK-001	HGNC Symbol	HGNC transcript name	1	56.89	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	22845	23406	DOLK	NM_014908	27518

MSeqDR Master Exome Data Set M1: 13 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	9	131708005	G	A	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.1578C>T	p.L526L	syn	NA	-	-	lod=309:582	-	-	-	het	1
2	9	131708259	C	T	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.1324G>A	p.A442T	non-syn	rs143641133	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=79:436	DAMAGING	B	-	het	2
3	9	131708504	T	C	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.1079A>G	p.Y360C	non-syn	rs138453255	-	C=8/T=8592;C=0/T=4406;C=8/T=12998	lod=56:399	TOLERATED	D	-	het	8
4	9	131708883	T	C	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.700A>G	p.M234V	non-syn	rs139787271	0.00561	C=12/T=8588;C=1/T=4405;C=13/T=12993	lod=172:519	TOLERATED	B	-	het	1
5	9	131708952	G	A	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.631C>T	p.R211C	non-syn	rs145310298	0.00288	A=31/G=8569;A=5/G=4401;A=36/G=12970	lod=236:553	TOLERATED	B	-	het	3
6	9	131709291	G	A	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.292C>T	p.R98W	non-syn	NA	-	-	lod=74:429	DAMAGING	D	-	het	1
7	9	131709397	C	T	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.186G>A	p.R62R	syn	rs148171062	-	T=13/C=8587;T=2/C=4404;T=15/C=12991	lod=449:622	-	-	-	het	8
8	9	131709474	T	G	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.109A>C	p.T37P	non-syn	NA	-	-	-	DAMAGING	B	-	het	2
9	9	131709581	A	+T	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	c.1_2insA	p.M1NA	non-syn	NA	-	-	lod=30:333	-	-	-	het	18
10	9	131709631	T	C	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	-	-	5'_UTR	rs116439010	0.0492	C=5/T=8455;C=160/T=4122;C=165/T=12577	-	-	-	-	het	4
11	9	131709644	C	T	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	9	131709770	A	+C	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
13	9	131709883	A	C	ENST00000372586	ENSG00000175283	131707809	131709898	ENSP00000361667	DOLK	-1	DOLK_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3

** 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,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding DOLK 9:131707809..131709898 region Gbrowse