MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 CTSC:

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
ENSG00000109861	CTSC	0	0	16	ENSG00000109861	ENST00000227266	ENSP00000227266	cathepsin C [Source:HGNC Symbol;Acc:2528]	11	88026760	88070955	-1	q14.2	88026760	88070955	CTSC	CTSC-001	HGNC Symbol	HGNC transcript name	9	38.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1075	2528	CTSC	NM_001814	27504

MSeqDR Master Exome Data Set M1: 187 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	11	88026895	T	C	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	-	-	3'_UTR	rs146045268	0.0088	-	-	-	-	-	het	1
2	11	88026921	A	G	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	-	-	3'_UTR	rs116618365	0.0203	-	-	-	-	-	het	2
3	11	88027209	T	C	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1357A>G	p.I453V	non-syn	rs3888798	0.0967	C=332/T=8266;C=302/T=4100;C=634/T=12366	lod=155:508	DAMAGING	P	Periodontitis, aggressive, association with	het	86
4	11	88027209	T	C	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1357A>G	p.I453V	non-syn	rs3888798	0.0967	C=332/T=8266;C=302/T=4100;C=634/T=12366	lod=155:508	DAMAGING	P	Periodontitis, aggressive, association with	hom	2
5	11	88027209	T	C	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.4091A>G	p.H1364R	non-syn	rs3888798	0.0967	C=332/T=8266;C=302/T=4100;C=634/T=12366	lod=155:508	DAMAGING	P	Periodontitis, aggressive, association with	het	86
6	11	88027209	T	C	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.4091A>G	p.H1364R	non-syn	rs3888798	0.0967	C=332/T=8266;C=302/T=4100;C=634/T=12366	lod=155:508	DAMAGING	P	Periodontitis, aggressive, association with	hom	2
7	11	88027249	G	C	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1317C>G	p.F439L	non-syn	NA	-	-	lod=157:510	DAMAGING	D	-	het	2
8	11	88027249	G	C	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.4051C>G	p.P1351A	non-syn	NA	-	-	lod=157:510	DAMAGING	D	-	het	2
9	11	88027252	G	A	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1314C>T	p.Y438Y	syn	rs143736590	0.0014	A=15/G=8583;A=2/G=4400;A=17/G=12983	lod=157:510	-	-	-	het	3
10	11	88027252	G	A	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.4048C>T	p.L1350F	non-syn	rs143736590	0.0014	A=15/G=8583;A=2/G=4400;A=17/G=12983	lod=157:510	-	-	-	het	3
11	11	88027393	A	C	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1173T>G	p.T391T	syn	rs17594	0.1044	C=326/A=8272;C=302/A=4100;C=628/A=12372	lod=113:474	-	-	-	hom	2
12	11	88027393	A	C	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1173T>G	p.T391T	syn	rs17594	0.1044	C=326/A=8272;C=302/A=4100;C=628/A=12372	lod=113:474	-	-	-	het	73
13	11	88027393	A	C	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.3907T>G	p.W1303G	non-syn	rs17594	0.1044	C=326/A=8272;C=302/A=4100;C=628/A=12372	lod=113:474	-	-	-	hom	2
14	11	88027393	A	C	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.3907T>G	p.W1303G	non-syn	rs17594	0.1044	C=326/A=8272;C=302/A=4100;C=628/A=12372	lod=113:474	-	-	-	het	73
15	11	88027420	G	A	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.1146C>T	p.H382H	syn	rs45558734	0.00092	A=27/G=8571;A=4/G=4398;A=31/G=12969	lod=88:448	-	-	-	het	5
16	11	88027420	G	A	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.3880C>T	p.L1294L	syn	rs45558734	0.00092	A=27/G=8571;A=4/G=4398;A=31/G=12969	lod=88:448	-	-	-	het	5
17	11	88029365	G	A	ENST00000227266	ENSG00000109861	88026760	88070955	ENSP00000227266	CTSC	-1	CATC_HUMAN	c.825C>T	p.T275T	syn	rs2230081	0.0067	A=90/G=8508;A=6/G=4396;A=96/G=12904	lod=117:478	-	-	-	het	14
18	11	88029365	G	A	ENST00000527018	ENSG00000109861	88026760	88070955	ENSP00000432556	CTSC	-1	-	c.695C>T	p.P232L	non-syn	rs2230081	0.0067	A=90/G=8508;A=6/G=4396;A=96/G=12904	lod=117:478	-	-	-	het	14
19	11	88029365	G	A	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.3559C>T	p.Q1187*	non-syn	rs2230081	0.0067	A=90/G=8508;A=6/G=4396;A=96/G=12904	lod=117:478	-	-	-	het	14
20	11	88029487	A	C	ENST00000533897	ENSG00000109861	88026760	88070955	-	CTSC	-1	-	c.3437T>G	p.I1146S	non-syn	rs77907149	0.0184	-	-	-	-	-	het	5

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding CTSC 11:88026760..88070955 region Gbrowse