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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 DMP1:

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
ENSG00000152592	DMP1	0	0	5	ENSG00000152592	ENST00000339673	ENSP00000340935	dentin matrix acidic phosphoprotein 1 [Source:HGNC Symbol;Acc:2932]	4	88571459	88585513	1	q22.1	88571459	88585513	DMP1	DMP1-001	HGNC Symbol	HGNC transcript name	2	38.38	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1758	2932	DMP1	NM_004407	27524

MSeqDR Master Exome Data Set M1: 99 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	4	88577648	A	T	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.4A>T	p.K2*	non-syn	NA	-	-	lod=29:329	DAMAGING	NA	-	het	2
2	4	88577648	A	T	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.4A>T	p.K2*	non-syn	NA	-	-	lod=29:329	DAMAGING	NA	-	het	2
3	4	88578181	T	G	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	-	-	-3bp 3'_splice_site	rs181490843	0.0021	G=1/T=8589;G=0/T=4396;G=1/T=12985	lod=24:309	-	-	-	het	8
4	4	88578181	T	G	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	-	-	-3bp 3'_splice_site	rs181490843	0.0021	G=1/T=8589;G=0/T=4396;G=1/T=12985	lod=24:309	-	-	-	hom	1
5	4	88578181	T	G	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	-	-	-3bp 3'_splice_site	rs181490843	0.0021	G=1/T=8589;G=0/T=4396;G=1/T=12985	lod=24:309	-	-	-	het	8
6	4	88578181	T	G	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	-	-	-3bp 3'_splice_site	rs181490843	0.0021	G=1/T=8589;G=0/T=4396;G=1/T=12985	lod=24:309	-	-	-	hom	1
7	4	88580405	G	T	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	-	-	+1bp 5'_splice_site	rs141480996	-	T=4/G=8596;T=0/G=4406;T=4/G=13002	lod=26:317	-	-	-	het	1
8	4	88580405	G	T	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	-	-	+1bp 5'_splice_site	rs141480996	-	T=4/G=8596;T=0/G=4406;T=4/G=13002	lod=26:317	-	-	-	het	1
9	4	88580630	G	C	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.183G>C	p.Q61H	non-syn	NA	-	-	lod=169:517	DAMAGING	B	-	het	2
10	4	88583135	A	T	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.157A>T	p.S53C	non-syn	rs10019009	0.3922	T=2289/A=6311;T=1302/A=3104;T=3591/A=9415	lod=23:304	DAMAGING	P	-	het	351
11	4	88583135	A	T	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.157A>T	p.S53C	non-syn	rs10019009	0.3922	T=2289/A=6311;T=1302/A=3104;T=3591/A=9415	lod=23:304	DAMAGING	P	-	hom	75
12	4	88583135	A	T	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.205A>T	p.S69C	non-syn	rs10019009	0.3922	T=2289/A=6311;T=1302/A=3104;T=3591/A=9415	lod=23:304	DAMAGING	P	-	het	351
13	4	88583135	A	T	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.205A>T	p.S69C	non-syn	rs10019009	0.3922	T=2289/A=6311;T=1302/A=3104;T=3591/A=9415	lod=23:304	DAMAGING	P	-	hom	75
14	4	88583220	A	-AGG	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.243_245del	p.K81NA	non-syn	NA	-	-	-	-	-	-	het	2
15	4	88583220	A	-AGG	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.291_293del	p.K97NA	non-syn	NA	-	-	-	-	-	-	het	2
16	4	88583279	G	A	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.301G>A	p.D101N	non-syn	NA	-	T=1/G=8599;T=0/G=4406;T=1/G=13005	-	TOLERATED	B	-	het	1
17	4	88583279	G	A	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.349G>A	p.D117N	non-syn	NA	-	T=1/G=8599;T=0/G=4406;T=1/G=13005	-	TOLERATED	B	-	het	1
18	4	88583405	C	A	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.427C>A	p.Q143K	non-syn	rs79402270	0.0589	A=16/C=8584;A=1/C=4405;A=17/C=12989	-	DAMAGING	P	-	het	7
19	4	88583405	C	A	ENST00000339673	ENSG00000152592	88571459	88585513	ENSP00000340935	DMP1	1	DMP1_HUMAN	c.475C>A	p.Q159K	non-syn	rs79402270	0.0589	A=16/C=8584;A=1/C=4405;A=17/C=12989	-	DAMAGING	P	-	het	7
20	4	88583542	T	-GGAGAC	ENST00000282479	ENSG00000152592	88571459	88585513	ENSP00000282479	DMP1	1	DMP1_HUMAN	c.565_570del	p.G189NA	non-syn	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding DMP1 4:88571459..88585513 region Gbrowse