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 LONP1:

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
ENSG00000196365	LONP1	1	0	1	ENSG00000196365	ENST00000587552		lon peptidase 1, mitochondrial [Source:HGNC Symbol;Acc:9479]	19	5691845	5720583	-1	p13.3	5691845	5719815	LONP1	LONP1-008	HGNC Symbol	HGNC transcript name	15	57.82	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	9361	9479	LONP1		27526

MSeqDR Master Exome Data Set M1: 596 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	19	5691933	G	A	ENST00000360614	ENSG00000196365	5691845	5720583	ENSP00000353826	LONP1	-1	LONM_HUMAN	-	-	3'_UTR	rs11551019	0.0336	-	-	-	-	-	het	5
2	19	5691933	G	A	ENST00000540670	ENSG00000196365	5691845	5720583	ENSP00000441523	LONP1	-1	-	-	-	3'_UTR	rs11551019	0.0336	-	-	-	-	-	het	5
3	19	5691933	G	A	ENST00000585374	ENSG00000196365	5691845	5720583	ENSP00000465585	LONP1	-1	-	-	-	3'_UTR	rs11551019	0.0336	-	-	-	-	-	het	5
4	19	5691933	G	A	ENST00000587552	ENSG00000196365	5691845	5720583	-	LONP1	-1	-	c.2728C>T	p.R910W	non-syn	rs11551019	0.0336	-	-	-	-	-	het	5
5	19	5691933	G	A	ENST00000590558	ENSG00000196365	5691845	5720583	ENSP00000467808	LONP1	-1	-	-	-	3'_UTR	rs11551019	0.0336	-	-	-	-	-	het	5
6	19	5691933	G	A	ENST00000593119	ENSG00000196365	5691845	5720583	ENSP00000468541	LONP1	-1	-	-	-	3'_UTR	rs11551019	0.0336	-	-	-	-	-	het	5
7	19	5692017	C	T	ENST00000360614	ENSG00000196365	5691845	5720583	ENSP00000353826	LONP1	-1	LONM_HUMAN	-	-	3'_UTR	rs114371639	0.002	-	-	-	-	-	het	2
8	19	5692017	C	T	ENST00000540670	ENSG00000196365	5691845	5720583	ENSP00000441523	LONP1	-1	-	-	-	3'_UTR	rs114371639	0.002	-	-	-	-	-	het	2
9	19	5692017	C	T	ENST00000585374	ENSG00000196365	5691845	5720583	ENSP00000465585	LONP1	-1	-	-	-	3'_UTR	rs114371639	0.002	-	-	-	-	-	het	2
10	19	5692017	C	T	ENST00000587552	ENSG00000196365	5691845	5720583	-	LONP1	-1	-	c.2644G>A	p.G882R	non-syn	rs114371639	0.002	-	-	-	-	-	het	2
11	19	5692017	C	T	ENST00000589473	ENSG00000196365	5691845	5720583	ENSP00000468379	LONP1	-1	-	c.780G>A	p.A260A	syn	rs114371639	0.002	-	-	-	-	-	het	2
12	19	5692017	C	T	ENST00000590558	ENSG00000196365	5691845	5720583	ENSP00000467808	LONP1	-1	-	-	-	3'_UTR	rs114371639	0.002	-	-	-	-	-	het	2
13	19	5692017	C	T	ENST00000590729	ENSG00000196365	5691845	5720583	ENSP00000465139	LONP1	-1	-	-	-	3'_UTR	rs114371639	0.002	-	-	-	-	-	het	2
14	19	5692017	C	T	ENST00000593119	ENSG00000196365	5691845	5720583	ENSP00000468541	LONP1	-1	-	-	-	3'_UTR	rs114371639	0.002	-	-	-	-	-	het	2
15	19	5692075	C	T	ENST00000360614	ENSG00000196365	5691845	5720583	ENSP00000353826	LONP1	-1	LONM_HUMAN	c.2848G>A	p.E950K	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
16	19	5692075	C	T	ENST00000540670	ENSG00000196365	5691845	5720583	ENSP00000441523	LONP1	-1	-	c.2260G>A	p.E754K	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
17	19	5692075	C	T	ENST00000585374	ENSG00000196365	5691845	5720583	ENSP00000465585	LONP1	-1	-	c.2506G>A	p.E836K	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
18	19	5692075	C	T	ENST00000587552	ENSG00000196365	5691845	5720583	-	LONP1	-1	-	c.2586G>A	p.T862T	syn	NA	-	-	-	TOLERATED	B	-	het	1
19	19	5692075	C	T	ENST00000589473	ENSG00000196365	5691845	5720583	ENSP00000468379	LONP1	-1	-	c.722G>A	p.R241Q	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
20	19	5692075	C	T	ENST00000590558	ENSG00000196365	5691845	5720583	ENSP00000467808	LONP1	-1	-	-	-	3'_UTR	NA	-	-	-	TOLERATED	B	-	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 LONP1 19:5691845..5720583 region Gbrowse