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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 CST3:

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
ENSG00000101439	CST3	0	0	2	ENSG00000101439	ENST00000398411	ENSP00000381448	cystatin C [Source:HGNC Symbol;Acc:2475]	20	23608534	23619110	-1	p11.21	23608534	23618582	CST3	CST3-002	HGNC Symbol	HGNC transcript name	3	53.52	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1471	2475	CST3	NM_001288614	27522

MSeqDR Master Exome Data Set M1: 71 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	20	23614304	C	T	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	-	-	3'_UTR	rs55837531	0.0182	-	-	-	-	-	het	15
2	20	23614304	C	T	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	-	-	3'_UTR	rs55837531	0.0182	-	-	-	-	-	het	15
3	20	23614402	A	-G	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	20	23614402	A	-G	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	20	23614577	C	T	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	c.417G>A	p.S139S	syn	rs77000936	0.0077	T=0/C=8600;T=32/C=4374;T=32/C=12974	-	-	-	-	het	2
6	20	23614577	C	T	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	c.417G>A	p.S139S	syn	rs77000936	0.0077	T=0/C=8600;T=32/C=4374;T=32/C=12974	-	-	-	-	het	2
7	20	23614577	C	T	ENST00000398411	ENSG00000101439	23608534	23619110	ENSP00000381448	CST3	-1	CYTC_HUMAN	c.417G>A	p.S139S	syn	rs77000936	0.0077	T=0/C=8600;T=32/C=4374;T=32/C=12974	-	-	-	-	het	2
8	20	23615910	T	G	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	c.338A>C	p.D113A	non-syn	rs201184716	-	-	-	DAMAGING	P	-	het	7
9	20	23615910	T	G	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	c.338A>C	p.D113A	non-syn	rs201184716	-	-	-	DAMAGING	P	-	het	7
10	20	23615910	T	G	ENST00000398411	ENSG00000101439	23608534	23619110	ENSP00000381448	CST3	-1	CYTC_HUMAN	c.338A>C	p.D113A	non-syn	rs201184716	-	-	-	DAMAGING	P	-	het	7
11	20	23615913	T	C	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	c.335A>G	p.H112R	non-syn	NA	-	-	lod=21:295	DAMAGING	D	-	het	1
12	20	23615913	T	C	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	c.335A>G	p.H112R	non-syn	NA	-	-	lod=21:295	DAMAGING	D	-	het	1
13	20	23615913	T	C	ENST00000398411	ENSG00000101439	23608534	23619110	ENSP00000381448	CST3	-1	CYTC_HUMAN	c.335A>G	p.H112R	non-syn	NA	-	-	lod=21:295	DAMAGING	D	-	het	1
14	20	23615923	A	T	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	c.325T>A	p.C109S	non-syn	NA	-	-	lod=21:295	DAMAGING	D	-	het	1
15	20	23615923	A	T	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	c.325T>A	p.C109S	non-syn	NA	-	-	lod=21:295	DAMAGING	D	-	het	1
16	20	23615923	A	T	ENST00000398411	ENSG00000101439	23608534	23619110	ENSP00000381448	CST3	-1	CYTC_HUMAN	c.325T>A	p.C109S	non-syn	NA	-	-	lod=21:295	DAMAGING	D	-	het	1
17	20	23615975	G	A	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	c.273C>T	p.D91D	syn	NA	-	-	lod=12:235	-	-	-	het	1
18	20	23615975	G	A	ENST00000398409	ENSG00000101439	23608534	23619110	ENSP00000381446	CST3	-1	CYTC_HUMAN	c.273C>T	p.D91D	syn	NA	-	-	lod=12:235	-	-	-	het	1
19	20	23615975	G	A	ENST00000398411	ENSG00000101439	23608534	23619110	ENSP00000381448	CST3	-1	CYTC_HUMAN	c.273C>T	p.D91D	syn	NA	-	-	lod=12:235	-	-	-	het	1
20	20	23618286	C	A	ENST00000376925	ENSG00000101439	23608534	23619110	ENSP00000366124	CST3	-1	CYTC_HUMAN	c.214G>T	p.A72S	non-syn	rs202145575	-	A=4/C=8030;A=0/C=4152;A=4/C=12182	-	TOLERATED	B	-	het	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CST3 20:23608534..23619110 region Gbrowse