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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 SMC3:

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
ENSG00000108055	SMC3	0	0	42	ENSG00000108055	ENST00000361804	ENSP00000354720	structural maintenance of chromosomes 3 [Source:HGNC Symbol;Acc:2468]	10	112327449	112364394	1	q25.2	112327449	112364394	SMC3	SMC3-001	HGNC Symbol	HGNC transcript name	2	36.86	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9126	2468	SMC3	NM_005445	27525

MSeqDR Master Exome Data Set M1: 46 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	10	112327476	C	A	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	5'_UTR	rs148267784	0.022	-	lod=107:469	-	-	-	het	48
2	10	112327501	C	A	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	5'_UTR	NA	-	A=5/C=3177;A=0/C=1380;A=5/C=4557	-	-	-	-	het	2
3	10	112328738	G	+T	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	c.58_59insT	p.V20NA	non-syn	NA	-	-	lod=515:637	-	-	-	het	1
4	10	112328738	G	+T	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	c.204_205insT	p.*69NA	non-syn	NA	-	-	lod=515:637	-	-	-	het	1
5	10	112333446	A	G	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-19bp 3'_splice_site	rs140102981	0.00294	G=36/A=8548;G=2/A=4394;G=38/A=12942	-	-	-	-	het	7
6	10	112333446	A	G	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	-	-	-19bp 3'_splice_site	rs140102981	0.00294	G=36/A=8548;G=2/A=4394;G=38/A=12942	-	-	-	-	het	7
7	10	112337235	A	G	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	c.255A>G	p.S85S	syn	rs146433240	0.00284	G=53/A=8545;G=1/A=4403;G=54/A=12948	lod=138:496	-	-	-	het	10
8	10	112337235	A	G	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	c.401A>G	p.Q134R	non-syn	rs146433240	0.00284	G=53/A=8545;G=1/A=4403;G=54/A=12948	lod=138:496	-	-	-	het	10
9	10	112338377	T	C	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-9bp 3'_splice_site	rs78663177	0.0836	C=377/T=8223;C=469/T=3937;C=846/T=12160	-	-	-	-	hom	3
10	10	112338377	T	C	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-9bp 3'_splice_site	rs78663177	0.0836	C=377/T=8223;C=469/T=3937;C=846/T=12160	-	-	-	-	het	78
11	10	112338377	T	C	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	-	-	-9bp 3'_splice_site	rs78663177	0.0836	C=377/T=8223;C=469/T=3937;C=846/T=12160	-	-	-	-	hom	3
12	10	112338377	T	C	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	-	-	-9bp 3'_splice_site	rs78663177	0.0836	C=377/T=8223;C=469/T=3937;C=846/T=12160	-	-	-	-	het	78
13	10	112341673	C	+TT	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-8bp 3'_splice_site	rs199906378	-	G=1/C=8595;G=0/C=4400;G=1/C=12995	-	-	-	-	het	91
14	10	112341673	C	+TT	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-8bp 3'_splice_site	rs199906378	-	G=1/C=8595;G=0/C=4400;G=1/C=12995	-	-	-	-	hom	3
15	10	112341673	C	+TT	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	-	-	-8bp 3'_splice_site	rs199906378	-	G=1/C=8595;G=0/C=4400;G=1/C=12995	-	-	-	-	het	91
16	10	112341673	C	+TT	ENST00000462899	ENSG00000108055	112327449	112364394	-	SMC3	1	-	-	-	-8bp 3'_splice_site	rs199906378	-	G=1/C=8595;G=0/C=4400;G=1/C=12995	-	-	-	-	hom	3
17	10	112341832	C	T	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	c.699C>T	p.N233N	syn	NA	-	-	lod=1197:727	-	-	-	het	1
18	10	112342306	G	+T	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	hom	3
19	10	112342306	G	+T	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	108
20	10	112343174	A	G	ENST00000361804	ENSG00000108055	112327449	112364394	ENSP00000354720	SMC3	1	SMC3_HUMAN	c.837A>G	p.T279T	syn	rs151335692	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=297:578	-	-	-	het	1

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Transcripts and variants in the surrounding SMC3 10:112327449..112364394 region Gbrowse