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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 DPAGT1:

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
ENSG00000172269	DPAGT1	1	0	16	ENSG00000172269	ENST00000409993	ENSP00000386597	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) [Source:HGNC Symbol;Acc:2995]	11	118967213	118979041	-1	q23.3	118967213	118979041	DPAGT1	DPAGT1-002	HGNC Symbol	HGNC transcript name	15	50.74	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1798	2995	DPAGT1		27504

MSeqDR Master Exome Data Set M1: 217 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	118967281	A	C	ENST00000354202	ENSG00000172269	118967213	118979041	ENSP00000346142	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs28990975	0.0271	-	lod=41:366	-	-	-	het	12
2	11	118967281	A	C	ENST00000392834	ENSG00000172269	118967213	118979041	ENSP00000376579	DPAGT1	-1	-	-	-	3'_UTR	rs28990975	0.0271	-	lod=41:366	-	-	-	het	12
3	11	118967281	A	C	ENST00000409993	ENSG00000172269	118967213	118979041	ENSP00000386597	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs28990975	0.0271	-	lod=41:366	-	-	-	het	12
4	11	118967281	A	C	ENST00000414373	ENSG00000172269	118967213	118979041	ENSP00000402019	DPAGT1	-1	-	-	-	3'_UTR	rs28990975	0.0271	-	lod=41:366	-	-	-	het	12
5	11	118967281	A	C	ENST00000461999	ENSG00000172269	118967213	118979041	-	DPAGT1	-1	-	c.2065T>G	p.*689E	non-syn	rs28990975	0.0271	-	lod=41:366	-	-	-	het	12
6	11	118967281	A	C	ENST00000481084	ENSG00000172269	118967213	118979041	-	DPAGT1	-1	-	c.2283T>G	p.S761R	non-syn	rs28990975	0.0271	-	lod=41:366	-	-	-	het	12
7	11	118967291	A	G	ENST00000354202	ENSG00000172269	118967213	118979041	ENSP00000346142	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	het	317
8	11	118967291	A	G	ENST00000354202	ENSG00000172269	118967213	118979041	ENSP00000346142	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	hom	93
9	11	118967291	A	G	ENST00000392834	ENSG00000172269	118967213	118979041	ENSP00000376579	DPAGT1	-1	-	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	het	317
10	11	118967291	A	G	ENST00000392834	ENSG00000172269	118967213	118979041	ENSP00000376579	DPAGT1	-1	-	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	hom	93
11	11	118967291	A	G	ENST00000409993	ENSG00000172269	118967213	118979041	ENSP00000386597	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	het	317
12	11	118967291	A	G	ENST00000409993	ENSG00000172269	118967213	118979041	ENSP00000386597	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	hom	93
13	11	118967291	A	G	ENST00000414373	ENSG00000172269	118967213	118979041	ENSP00000402019	DPAGT1	-1	-	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	het	317
14	11	118967291	A	G	ENST00000414373	ENSG00000172269	118967213	118979041	ENSP00000402019	DPAGT1	-1	-	-	-	3'_UTR	rs7759	0.33608	-	lod=41:366	-	-	-	hom	93
15	11	118967291	A	G	ENST00000461999	ENSG00000172269	118967213	118979041	-	DPAGT1	-1	-	c.2055T>C	p.C685C	syn	rs7759	0.33608	-	lod=41:366	-	-	-	het	317
16	11	118967291	A	G	ENST00000461999	ENSG00000172269	118967213	118979041	-	DPAGT1	-1	-	c.2055T>C	p.C685C	syn	rs7759	0.33608	-	lod=41:366	-	-	-	hom	93
17	11	118967291	A	G	ENST00000481084	ENSG00000172269	118967213	118979041	-	DPAGT1	-1	-	c.2273T>C	p.V758A	non-syn	rs7759	0.33608	-	lod=41:366	-	-	-	het	317
18	11	118967291	A	G	ENST00000481084	ENSG00000172269	118967213	118979041	-	DPAGT1	-1	-	c.2273T>C	p.V758A	non-syn	rs7759	0.33608	-	lod=41:366	-	-	-	hom	93
19	11	118967341	G	A	ENST00000354202	ENSG00000172269	118967213	118979041	ENSP00000346142	DPAGT1	-1	GPT_HUMAN	-	-	3'_UTR	rs150240212	0.0009	-	-	-	-	-	het	1
20	11	118967341	G	A	ENST00000392834	ENSG00000172269	118967213	118979041	ENSP00000376579	DPAGT1	-1	-	-	-	3'_UTR	rs150240212	0.0009	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding DPAGT1 11:118967213..118979041 region Gbrowse