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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 DSPP:

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
ENSG00000152591	DSPP	0	0	19	ENSG00000152591	ENST00000282478	ENSP00000282478	dentin sialophosphoprotein [Source:HGNC Symbol;Acc:3054]	4	88529681	88538062	1	q22.1	88532028	88538062	DSPP	DSPP-001	HGNC Symbol	HGNC transcript name	2	41.02	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1834	3054	DSPP		27524

MSeqDR Master Exome Data Set M1: 516 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	88533454	T	+TGAA	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	-	-	-20bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
2	4	88533454	T	+TGAA	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	-	-	-20bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
3	4	88533518	G	T	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.180G>T	p.L60L	syn	rs200927888	-	T=9/G=8291;T=1/G=3857;T=10/G=12148	-	-	-	-	het	7
4	4	88533518	G	T	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.180G>T	p.L60L	syn	rs200927888	-	T=9/G=8291;T=1/G=3857;T=10/G=12148	-	-	-	-	het	7
5	4	88533540	A	T	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.202A>T	p.R68W	non-syn	rs36094464	0.1975	T=537/A=7757;T=1194/A=2670;T=1731/A=10427	-	-	D	Dentinogenesis imperfecta type II	het	102
6	4	88533540	A	T	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.202A>T	p.R68W	non-syn	rs36094464	0.1975	T=537/A=7757;T=1194/A=2670;T=1731/A=10427	-	-	D	Dentinogenesis imperfecta type II	hom	6
7	4	88533540	A	T	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.202A>T	p.R68W	non-syn	rs36094464	0.1975	T=537/A=7757;T=1194/A=2670;T=1731/A=10427	-	-	D	Dentinogenesis imperfecta type II	het	102
8	4	88533540	A	T	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.202A>T	p.R68W	non-syn	rs36094464	0.1975	T=537/A=7757;T=1194/A=2670;T=1731/A=10427	-	-	D	Dentinogenesis imperfecta type II	hom	6
9	4	88533730	T	C	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.392T>C	p.I131T	non-syn	rs61731009	0.0718	C=0/T=8376;C=309/T=3687;C=309/T=12063	-	-	B	-	het	7
10	4	88533730	T	C	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.392T>C	p.I131T	non-syn	rs61731009	0.0718	C=0/T=8376;C=309/T=3687;C=309/T=12063	-	-	B	-	het	7
11	4	88533750	G	A	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.412G>A	p.G138R	non-syn	rs192767583	0.0021	-	lod=20:289	-	D	-	het	2
12	4	88533750	G	A	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.412G>A	p.G138R	non-syn	rs192767583	0.0021	-	lod=20:289	-	D	-	het	2
13	4	88533800	T	C	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.462T>C	p.T154T	syn	NA	-	-	-	-	-	-	het	2
14	4	88533800	T	C	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.462T>C	p.T154T	syn	NA	-	-	-	-	-	-	het	2
15	4	88533831	G	A	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.493G>A	p.G165R	non-syn	NA	-	-	-	-	P	-	het	1
16	4	88533831	G	A	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.493G>A	p.G165R	non-syn	NA	-	-	-	-	P	-	het	1
17	4	88533886	G	A	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.548G>A	p.G183E	non-syn	NA	-	-	-	-	P	-	het	1
18	4	88533886	G	A	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.548G>A	p.G183E	non-syn	NA	-	-	-	-	P	-	het	1
19	4	88534029	C	A	ENST00000282478	ENSG00000152591	88529681	88538062	ENSP00000282478	DSPP	1	DSPP_HUMAN	c.691C>A	p.P231T	non-syn	rs61738509	0.0351	A=13/C=8353;A=119/C=3895;A=132/C=12248	-	-	D	-	het	10
20	4	88534029	C	A	ENST00000399271	ENSG00000152591	88529681	88538062	ENSP00000382213	DSPP	1	DSPP_HUMAN	c.691C>A	p.P231T	non-syn	rs61738509	0.0351	A=13/C=8353;A=119/C=3895;A=132/C=12248	-	-	D	-	het	10

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding DSPP 4:88529681..88538062 region Gbrowse