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 PGAP3:

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
ENSG00000161395	PGAP3	0	0	12	ENSG00000161395	ENST00000579146	ENSP00000463234	post-GPI attachment to proteins 3 [Source:HGNC Symbol;Acc:23719]	17	37827375	37853050	-1	q12	37827375	37844310	PGAP3	PGAP3-003	HGNC Symbol	HGNC transcript name	10	51.61	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	93210	23719	PGAP3		27509

MSeqDR Master Exome Data Set M1: 121 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	17	37828072	C	T	ENST00000300658	ENSG00000161395	37827375	37853050	ENSP00000300658	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs14050	0.6441	-	-	-	-	-	hom	1
2	17	37828072	C	T	ENST00000309862	ENSG00000161395	37827375	37853050	-	PGAP3	-1	-	c.2332G>A	p.A778T	non-syn	rs14050	0.6441	-	-	-	-	-	hom	1
3	17	37828072	C	T	ENST00000378011	ENSG00000161395	37827375	37853050	ENSP00000367250	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs14050	0.6441	-	-	-	-	-	hom	1
4	17	37828072	C	T	ENST00000579146	ENSG00000161395	37827375	37853050	ENSP00000463234	PGAP3	-1	-	-	-	3'_UTR	rs14050	0.6441	-	-	-	-	-	hom	1
5	17	37828745	A	G	ENST00000300658	ENSG00000161395	37827375	37853050	ENSP00000300658	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs2941503	0.6247	-	-	-	-	-	hom	3
6	17	37828745	A	G	ENST00000309862	ENSG00000161395	37827375	37853050	-	PGAP3	-1	-	c.1659T>C	p.H553H	syn	rs2941503	0.6247	-	-	-	-	-	hom	3
7	17	37828745	A	G	ENST00000378011	ENSG00000161395	37827375	37853050	ENSP00000367250	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs2941503	0.6247	-	-	-	-	-	hom	3
8	17	37828745	A	G	ENST00000579146	ENSG00000161395	37827375	37853050	ENSP00000463234	PGAP3	-1	-	-	-	3'_UTR	rs2941503	0.6247	-	-	-	-	-	hom	3
9	17	37828787	G	A	ENST00000300658	ENSG00000161395	37827375	37853050	ENSP00000300658	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs907087	0.6205	-	-	-	-	-	het	1
10	17	37828787	G	A	ENST00000300658	ENSG00000161395	37827375	37853050	ENSP00000300658	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs907087	0.6205	-	-	-	-	-	hom	7
11	17	37828787	G	A	ENST00000309862	ENSG00000161395	37827375	37853050	-	PGAP3	-1	-	c.1617C>T	p.C539C	syn	rs907087	0.6205	-	-	-	-	-	het	1
12	17	37828787	G	A	ENST00000309862	ENSG00000161395	37827375	37853050	-	PGAP3	-1	-	c.1617C>T	p.C539C	syn	rs907087	0.6205	-	-	-	-	-	hom	7
13	17	37828787	G	A	ENST00000378011	ENSG00000161395	37827375	37853050	ENSP00000367250	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs907087	0.6205	-	-	-	-	-	het	1
14	17	37828787	G	A	ENST00000378011	ENSG00000161395	37827375	37853050	ENSP00000367250	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	rs907087	0.6205	-	-	-	-	-	hom	7
15	17	37828787	G	A	ENST00000579146	ENSG00000161395	37827375	37853050	ENSP00000463234	PGAP3	-1	-	-	-	3'_UTR	rs907087	0.6205	-	-	-	-	-	het	1
16	17	37828787	G	A	ENST00000579146	ENSG00000161395	37827375	37853050	ENSP00000463234	PGAP3	-1	-	-	-	3'_UTR	rs907087	0.6205	-	-	-	-	-	hom	7
17	17	37828994	G	C	ENST00000300658	ENSG00000161395	37827375	37853050	ENSP00000300658	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	17	37828994	G	C	ENST00000309862	ENSG00000161395	37827375	37853050	-	PGAP3	-1	-	c.1410C>G	p.L470L	syn	NA	-	-	-	-	-	-	het	1
19	17	37828994	G	C	ENST00000378011	ENSG00000161395	37827375	37853050	ENSP00000367250	PGAP3	-1	PGAP3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	17	37828994	G	C	ENST00000579146	ENSG00000161395	37827375	37853050	ENSP00000463234	PGAP3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	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 PGAP3 17:37827375..37853050 region Gbrowse