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 LIPA:

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
ENSG00000107798	LIPA	0	0	12	ENSG00000107798	ENST00000336233	ENSP00000337354	lipase A, lysosomal acid, cholesterol esterase [Source:HGNC Symbol;Acc:6617]	10	90973326	91174314	-1	q23.31	90973326	91011815	LIPA	LIPA-001	HGNC Symbol	HGNC transcript name	8	41.43	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3988	6617	LIPA		27525

MSeqDR Master Exome Data Set M1: 142 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	10	90973391	A	-GTATTC	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	10	90973391	A	-GTATTC	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	10	90973391	A	-GTATTC	ENST00000456827	ENSG00000107798	90973326	91174314	ENSP00000413019	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	10	90973392	G	C	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	10	90973392	G	C	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	10	90973392	G	C	ENST00000456827	ENSG00000107798	90973326	91174314	ENSP00000413019	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	10	90973398	G	T	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs78931290	0.0543	-	-	-	-	-	het	9
8	10	90973398	G	T	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs78931290	0.0543	-	-	-	-	-	het	9
9	10	90973398	G	T	ENST00000456827	ENSG00000107798	90973326	91174314	ENSP00000413019	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs78931290	0.0543	-	-	-	-	-	het	9
10	10	90973492	G	A	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs13500	0.1793	-	-	-	-	-	hom	12
11	10	90973492	G	A	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs13500	0.1793	-	-	-	-	-	het	115
12	10	90973492	G	A	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs13500	0.1793	-	-	-	-	-	hom	12
13	10	90973492	G	A	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs13500	0.1793	-	-	-	-	-	het	115
14	10	90973492	G	A	ENST00000456827	ENSG00000107798	90973326	91174314	ENSP00000413019	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs13500	0.1793	-	-	-	-	-	hom	12
15	10	90973492	G	A	ENST00000456827	ENSG00000107798	90973326	91174314	ENSP00000413019	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	rs13500	0.1793	-	-	-	-	-	het	115
16	10	90973527	G	-CAGA	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	10	90973527	G	-CAGA	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	10	90973527	G	-CAGA	ENST00000456827	ENSG00000107798	90973326	91174314	ENSP00000413019	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	10	90973540	G	A	ENST00000336233	ENSG00000107798	90973326	91174314	ENSP00000337354	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
20	10	90973540	G	A	ENST00000371837	ENSG00000107798	90973326	91174314	ENSP00000360903	LIPA	-1	LICH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8

** 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 LIPA 10:90973326..91174314 region Gbrowse