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 PRRT2:

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
ENSG00000167371	PRRT2	0	0	55	ENSG00000167371	ENST00000562148	ENSP00000454634	proline-rich transmembrane protein 2 [Source:HGNC Symbol;Acc:30500]	16	29823177	29827201	1	p11.2	29823177	29824651	PRRT2	PRRT2-008	HGNC Symbol	HGNC transcript name	6	61.24	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	112476	30500	PRRT2		27514

MSeqDR Master Exome Data Set M1: 101 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	16	29823202	A	G	ENST00000562148	ENSG00000167371	29823177	29827201	ENSP00000454634	PRRT2	1	-	-	-	5'_UTR	rs12923293	0.9985	-	-	-	-	-	het	3
2	16	29823202	A	G	ENST00000562148	ENSG00000167371	29823177	29827201	ENSP00000454634	PRRT2	1	-	-	-	5'_UTR	rs12923293	0.9985	-	-	-	-	-	hom	693
3	16	29823219	C	T	ENST00000562148	ENSG00000167371	29823177	29827201	ENSP00000454634	PRRT2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
4	16	29823255	C	T	ENST00000562148	ENSG00000167371	29823177	29827201	ENSP00000454634	PRRT2	1	-	-	-	5'_UTR	NA	-	-	lod=20:289	-	-	-	het	2
5	16	29823342	T	C	ENST00000562148	ENSG00000167371	29823177	29827201	ENSP00000454634	PRRT2	1	-	-	-	5'_UTR	rs8054524	1	-	lod=105:467	-	-	-	hom	454
6	16	29824787	C	G	ENST00000300797	ENSG00000167371	29823177	29827201	ENSP00000300797	PRRT2	1	PRRT2_HUMAN	c.412C>G	p.P138A	non-syn	rs79182085	0.0685	G=7/C=8591;G=11/C=4383;G=18/C=12974	lod=36:352	DAMAGING	P	-	het	4
7	16	29824787	C	G	ENST00000358758	ENSG00000167371	29823177	29827201	ENSP00000351608	PRRT2	1	PRRT2_HUMAN	c.412C>G	p.P138A	non-syn	rs79182085	0.0685	G=7/C=8591;G=11/C=4383;G=18/C=12974	lod=36:352	DAMAGING	P	-	het	4
8	16	29824787	C	G	ENST00000567659	ENSG00000167371	29823177	29827201	ENSP00000456226	PRRT2	1	PRRT2_HUMAN	c.412C>G	p.P138A	non-syn	rs79182085	0.0685	G=7/C=8591;G=11/C=4383;G=18/C=12974	lod=36:352	DAMAGING	P	-	het	4
9	16	29824787	C	G	ENST00000572820	ENSG00000167371	29823177	29827201	ENSP00000458291	PRRT2	1	-	c.253C>G	p.P85A	non-syn	rs79182085	0.0685	G=7/C=8591;G=11/C=4383;G=18/C=12974	lod=36:352	DAMAGING	P	-	het	4
10	16	29824814	G	C	ENST00000300797	ENSG00000167371	29823177	29827201	ENSP00000300797	PRRT2	1	PRRT2_HUMAN	c.439G>C	p.D147H	non-syn	rs79568162	-	-	-	TOLERATED	B	-	het	2
11	16	29824814	G	C	ENST00000358758	ENSG00000167371	29823177	29827201	ENSP00000351608	PRRT2	1	PRRT2_HUMAN	c.439G>C	p.D147H	non-syn	rs79568162	-	-	-	TOLERATED	B	-	het	2
12	16	29824814	G	C	ENST00000567659	ENSG00000167371	29823177	29827201	ENSP00000456226	PRRT2	1	PRRT2_HUMAN	c.439G>C	p.D147H	non-syn	rs79568162	-	-	-	TOLERATED	B	-	het	2
13	16	29824814	G	C	ENST00000572820	ENSG00000167371	29823177	29827201	ENSP00000458291	PRRT2	1	-	c.280G>C	p.D94H	non-syn	rs79568162	-	-	-	TOLERATED	B	-	het	2
14	16	29825019	C	G	ENST00000300797	ENSG00000167371	29823177	29827201	ENSP00000300797	PRRT2	1	PRRT2_HUMAN	c.644C>G	p.P215R	non-syn	rs200926711	-	G=4/C=8484;G=0/C=4300;G=4/C=12784	lod=91:451	DAMAGING	D	-	het	4
15	16	29825019	C	G	ENST00000358758	ENSG00000167371	29823177	29827201	ENSP00000351608	PRRT2	1	PRRT2_HUMAN	c.644C>G	p.P215R	non-syn	rs200926711	-	G=4/C=8484;G=0/C=4300;G=4/C=12784	lod=91:451	DAMAGING	D	-	het	4
16	16	29825019	C	G	ENST00000567551	ENSG00000167371	29823177	29827201	-	PRRT2	1	-	c.465C>G	p.P155P	syn	rs200926711	-	G=4/C=8484;G=0/C=4300;G=4/C=12784	lod=91:451	DAMAGING	D	-	het	4
17	16	29825019	C	G	ENST00000567659	ENSG00000167371	29823177	29827201	ENSP00000456226	PRRT2	1	PRRT2_HUMAN	c.644C>G	p.P215R	non-syn	rs200926711	-	G=4/C=8484;G=0/C=4300;G=4/C=12784	lod=91:451	DAMAGING	D	-	het	4
18	16	29825022	C	T	ENST00000300797	ENSG00000167371	29823177	29827201	ENSP00000300797	PRRT2	1	PRRT2_HUMAN	c.647C>T	p.P216L	non-syn	rs76335820	0.0083	T=62/C=8450;T=11/C=4323;T=73/C=12773	lod=91:451	DAMAGING	D	-	hom	1
19	16	29825022	C	T	ENST00000300797	ENSG00000167371	29823177	29827201	ENSP00000300797	PRRT2	1	PRRT2_HUMAN	c.647C>T	p.P216L	non-syn	rs76335820	0.0083	T=62/C=8450;T=11/C=4323;T=73/C=12773	lod=91:451	DAMAGING	D	-	het	13
20	16	29825022	C	T	ENST00000358758	ENSG00000167371	29823177	29827201	ENSP00000351608	PRRT2	1	PRRT2_HUMAN	c.647C>T	p.P216L	non-syn	rs76335820	0.0083	T=62/C=8450;T=11/C=4323;T=73/C=12773	lod=91:451	DAMAGING	D	-	hom	1

** 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 PRRT2 16:29823177..29827201 region Gbrowse