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 CRTAP:

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
ENSG00000170275	CRTAP	0	0	10	ENSG00000170275	ENST00000320954	ENSP00000323696	cartilage associated protein [Source:HGNC Symbol;Acc:2379]	3	33155471	33189265	1	p22.3	33155471	33189265	CRTAP	CRTAP-001	HGNC Symbol	HGNC transcript name	3	44.28	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	100653071	2379	CRTAP	NM_006371	27517

MSeqDR Master Exome Data Set M1: 76 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	3	33155663	A	G	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.94A>G	p.S32G	non-syn	NA	-	-	lod=1267:733	DAMAGING	D	-	het	1
2	3	33155663	A	G	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.94A>G	p.S32G	non-syn	NA	-	-	lod=1267:733	DAMAGING	D	-	het	1
3	3	33155692	G	A	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.123G>A	p.L41L	syn	NA	-	-	lod=1267:733	-	-	-	het	2
4	3	33155692	G	A	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.123G>A	p.L41L	syn	NA	-	-	lod=1267:733	-	-	-	het	2
5	3	33155782	G	A	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.213G>A	p.L71L	syn	rs11558338	0.3864	A=607/G=7415;A=901/G=3141;A=1508/G=10556	lod=1267:733	-	-	-	het	128
6	3	33155782	G	A	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.213G>A	p.L71L	syn	rs11558338	0.3864	A=607/G=7415;A=901/G=3141;A=1508/G=10556	lod=1267:733	-	-	-	hom	9
7	3	33155782	G	A	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.213G>A	p.L71L	syn	rs11558338	0.3864	A=607/G=7415;A=901/G=3141;A=1508/G=10556	lod=1267:733	-	-	-	het	128
8	3	33155782	G	A	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.213G>A	p.L71L	syn	rs11558338	0.3864	A=607/G=7415;A=901/G=3141;A=1508/G=10556	lod=1267:733	-	-	-	hom	9
9	3	33155889	G	T	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.320G>T	p.R107L	non-syn	NA	-	-	lod=371:601	DAMAGING	D	-	het	1
10	3	33155889	G	T	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.320G>T	p.R107L	non-syn	NA	-	-	lod=371:601	DAMAGING	D	-	het	1
11	3	33156015	A	G	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.446A>G	p.K149R	non-syn	rs201564256	-	-	lod=341:592	TOLERATED	B	-	hom	1
12	3	33156015	A	G	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.446A>G	p.K149R	non-syn	rs201564256	-	-	lod=341:592	TOLERATED	B	-	hom	1
13	3	33156020	C	G	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.451C>G	p.L151V	non-syn	rs202118861	-	-	lod=341:592	DAMAGING	P	-	het	1
14	3	33156020	C	G	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.451C>G	p.L151V	non-syn	rs202118861	-	-	lod=341:592	DAMAGING	P	-	het	1
15	3	33161898	C	T	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.534C>T	p.D178D	syn	rs4076086	0.4211	T=732/C=7868;T=1423/C=2983;T=2155/C=10851	lod=206:539	-	-	-	het	201
16	3	33161898	C	T	ENST00000320954	ENSG00000170275	33155471	33189265	ENSP00000323696	CRTAP	1	CRTAP_HUMAN	c.534C>T	p.D178D	syn	rs4076086	0.4211	T=732/C=7868;T=1423/C=2983;T=2155/C=10851	lod=206:539	-	-	-	hom	12
17	3	33161898	C	T	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.534C>T	p.D178D	syn	rs4076086	0.4211	T=732/C=7868;T=1423/C=2983;T=2155/C=10851	lod=206:539	-	-	-	het	201
18	3	33161898	C	T	ENST00000449224	ENSG00000170275	33155471	33189265	ENSP00000409997	CRTAP	1	-	c.534C>T	p.D178D	syn	rs4076086	0.4211	T=732/C=7868;T=1423/C=2983;T=2155/C=10851	lod=206:539	-	-	-	hom	12
19	3	33161898	C	T	ENST00000485310	ENSG00000170275	33155471	33189265	-	CRTAP	1	-	c.128C>T	p.T43M	non-syn	rs4076086	0.4211	T=732/C=7868;T=1423/C=2983;T=2155/C=10851	lod=206:539	-	-	-	het	201
20	3	33161898	C	T	ENST00000485310	ENSG00000170275	33155471	33189265	-	CRTAP	1	-	c.128C>T	p.T43M	non-syn	rs4076086	0.4211	T=732/C=7868;T=1423/C=2983;T=2155/C=10851	lod=206:539	-	-	-	hom	12

** 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 CRTAP 3:33155471..33189265 region Gbrowse