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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 SMOC2:

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
ENSG00000112562	SMOC2	0	0	2	ENSG00000112562	ENST00000356284	ENSP00000348630	SPARC related modular calcium binding 2 [Source:HGNC Symbol;Acc:20323]	6	168841831	169073984	1	q27	168841831	169068674	SMOC2	SMOC2-001	HGNC Symbol	HGNC transcript name	5	47.25	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	64094	20323	SMOC2	NM_001166412	27515

MSeqDR Master Exome Data Set M1: 145 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	6	168841947	C	T	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs143067962	0.0745	-	-	-	-	-	hom	6
2	6	168841947	C	T	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs143067962	0.0745	-	-	-	-	-	het	58
3	6	168841947	C	T	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs143067962	0.0745	-	-	-	-	-	hom	6
4	6	168841947	C	T	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs143067962	0.0745	-	-	-	-	-	het	58
5	6	168841991	C	-G	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	17
6	6	168841991	C	-G	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	17
7	6	168842002	C	T	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
8	6	168842002	C	T	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
9	6	168842014	A	G	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs76776636	0.5043	G=536/A=4896;G=740/A=1728;G=1276/A=6624	-	-	-	-	het	181
10	6	168842014	A	G	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs76776636	0.5043	G=536/A=4896;G=740/A=1728;G=1276/A=6624	-	-	-	-	hom	32
11	6	168842014	A	G	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs76776636	0.5043	G=536/A=4896;G=740/A=1728;G=1276/A=6624	-	-	-	-	het	181
12	6	168842014	A	G	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	-	-	5'_UTR	rs76776636	0.5043	G=536/A=4896;G=740/A=1728;G=1276/A=6624	-	-	-	-	hom	32
13	6	168842113	T	G	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	c.63T>G	p.A21A	syn	rs73270928	0.3759	G=645/T=5799;G=924/T=2074;G=1569/T=7873	lod=68:420	-	-	-	het	171
14	6	168842113	T	G	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	c.63T>G	p.A21A	syn	rs73270928	0.3759	G=645/T=5799;G=924/T=2074;G=1569/T=7873	lod=68:420	-	-	-	hom	31
15	6	168842113	T	G	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	c.63T>G	p.A21A	syn	rs73270928	0.3759	G=645/T=5799;G=924/T=2074;G=1569/T=7873	lod=68:420	-	-	-	het	171
16	6	168842113	T	G	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	c.63T>G	p.A21A	syn	rs73270928	0.3759	G=645/T=5799;G=924/T=2074;G=1569/T=7873	lod=68:420	-	-	-	hom	31
17	6	168910646	G	A	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	c.136G>A	p.G46S	non-syn	NA	-	-	lod=20:289	TOLERATED	B	-	het	2
18	6	168910646	G	A	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	c.136G>A	p.G46S	non-syn	NA	-	-	lod=20:289	TOLERATED	B	-	het	2
19	6	168910650	C	T	ENST00000354536	ENSG00000112562	168841831	169073984	ENSP00000346537	SMOC2	1	SMOC2_HUMAN	c.140C>T	p.S47L	non-syn	rs150344348	-	T=0/C=8600;T=2/C=4404;T=2/C=13004	lod=20:289	DAMAGING	P	-	het	2
20	6	168910650	C	T	ENST00000356284	ENSG00000112562	168841831	169073984	ENSP00000348630	SMOC2	1	SMOC2_HUMAN	c.140C>T	p.S47L	non-syn	rs150344348	-	T=0/C=8600;T=2/C=4404;T=2/C=13004	lod=20:289	DAMAGING	P	-	het	2

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Transcripts and variants in the surrounding SMOC2 6:168841831..169073984 region Gbrowse