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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 DPM1:

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
ENSG00000000419	DPM1	1	0	2	ENSG00000000419	ENST00000371588	ENSP00000360644	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit [Source:HGNC Symbol;Acc:3005]	20	49551404	49575092	-1	q13.13	49551404	49575087	DPM1	DPM1-001	HGNC Symbol	HGNC transcript name	7	39.85	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8813	3005	DPM1	NM_003859	27522

MSeqDR Master Exome Data Set M1: 78 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	20	49551673	G	A	ENST00000371582	ENSG00000000419	49551404	49575092	ENSP00000360638	DPM1	-1	-	c.860C>T	p.T287I	non-syn	rs146262101	-	A=2/G=8584;A=0/G=4406;A=2/G=12990	lod=430:617	DAMAGING	D	-	het	1
2	20	49551673	G	A	ENST00000371583	ENSG00000000419	49551404	49575092	ENSP00000360639	DPM1	-1	-	c.764C>T	p.T255I	non-syn	rs146262101	-	A=2/G=8584;A=0/G=4406;A=2/G=12990	lod=430:617	DAMAGING	D	-	het	1
3	20	49551673	G	A	ENST00000371584	ENSG00000000419	49551404	49575092	ENSP00000360640	DPM1	-1	-	c.882C>T	p.Y294Y	syn	rs146262101	-	A=2/G=8584;A=0/G=4406;A=2/G=12990	lod=430:617	DAMAGING	D	-	het	1
4	20	49551673	G	A	ENST00000371588	ENSG00000000419	49551404	49575092	ENSP00000360644	DPM1	-1	DPM1_HUMAN	c.779C>T	p.T260I	non-syn	rs146262101	-	A=2/G=8584;A=0/G=4406;A=2/G=12990	lod=430:617	DAMAGING	D	-	het	1
5	20	49551673	G	A	ENST00000466152	ENSG00000000419	49551404	49575092	-	DPM1	-1	-	c.828C>T	p.Y276Y	syn	rs146262101	-	A=2/G=8584;A=0/G=4406;A=2/G=12990	lod=430:617	DAMAGING	D	-	het	1
6	20	49551673	G	A	ENST00000494752	ENSG00000000419	49551404	49575092	-	DPM1	-1	-	c.549C>T	p.Y183Y	syn	rs146262101	-	A=2/G=8584;A=0/G=4406;A=2/G=12990	lod=430:617	DAMAGING	D	-	het	1
7	20	49551779	T	+A	ENST00000371582	ENSG00000000419	49551404	49575092	ENSP00000360638	DPM1	-1	-	-	-	-6bp 3'_splice_site	rs11480415	-	-	-	-	-	-	het	29
8	20	49551779	T	+A	ENST00000371583	ENSG00000000419	49551404	49575092	ENSP00000360639	DPM1	-1	-	-	-	-6bp 3'_splice_site	rs11480415	-	-	-	-	-	-	het	29
9	20	49551779	T	+A	ENST00000371584	ENSG00000000419	49551404	49575092	ENSP00000360640	DPM1	-1	-	-	-	-6bp 3'_splice_site	rs11480415	-	-	-	-	-	-	het	29
10	20	49551779	T	+A	ENST00000371588	ENSG00000000419	49551404	49575092	ENSP00000360644	DPM1	-1	DPM1_HUMAN	-	-	-6bp 3'_splice_site	rs11480415	-	-	-	-	-	-	het	29
11	20	49551779	T	+A	ENST00000466152	ENSG00000000419	49551404	49575092	-	DPM1	-1	-	-	-	-6bp 3'_splice_site	rs11480415	-	-	-	-	-	-	het	29
12	20	49551779	T	+A	ENST00000494752	ENSG00000000419	49551404	49575092	-	DPM1	-1	-	-	-	-6bp 3'_splice_site	rs11480415	-	-	-	-	-	-	het	29
13	20	49551780	T	+AA	ENST00000371582	ENSG00000000419	49551404	49575092	ENSP00000360638	DPM1	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
14	20	49551780	T	+AA	ENST00000371583	ENSG00000000419	49551404	49575092	ENSP00000360639	DPM1	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
15	20	49551780	T	+AA	ENST00000371584	ENSG00000000419	49551404	49575092	ENSP00000360640	DPM1	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
16	20	49551780	T	+AA	ENST00000371588	ENSG00000000419	49551404	49575092	ENSP00000360644	DPM1	-1	DPM1_HUMAN	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
17	20	49551780	T	+AA	ENST00000466152	ENSG00000000419	49551404	49575092	-	DPM1	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
18	20	49551780	T	+AA	ENST00000494752	ENSG00000000419	49551404	49575092	-	DPM1	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
19	20	49551780	T	+A	ENST00000371582	ENSG00000000419	49551404	49575092	ENSP00000360638	DPM1	-1	-	-	-	-7bp 3'_splice_site	rs33917565	-	-	-	-	-	-	het	459
20	20	49551780	T	+A	ENST00000371582	ENSG00000000419	49551404	49575092	ENSP00000360638	DPM1	-1	-	-	-	-7bp 3'_splice_site	rs33917565	-	-	-	-	-	-	hom	5

** 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 DPM1 20:49551404..49575092 region Gbrowse