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 LIAS:

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
ENSG00000121897	LIAS	1	57	24	ENSG00000121897	ENST00000340169	ENSP00000340676	lipoic acid synthetase [Source:HGNC Symbol;Acc:16429]	4	39460620	39479273	1	p14	39460620	39479204	LIAS	LIAS-008	HGNC Symbol	HGNC transcript name	7	39.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	11019	16429	LIAS	NM_194451	27524

MSeqDR Master Exome Data Set M1: 164 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	4	39460672	C	A	ENST00000261434	ENSG00000121897	39460620	39479273	ENSP00000261434	LIAS	1	LIAS_HUMAN	-	-	5'_UTR	rs192607174	0.00198	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	het	4
2	4	39460672	C	A	ENST00000340169	ENSG00000121897	39460620	39479273	ENSP00000340676	LIAS	1	-	-	-	5'_UTR	rs192607174	0.00198	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	het	4
3	4	39460672	C	A	ENST00000509519	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.8C>A	p.S3*	non-syn	rs192607174	0.00198	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	het	4
4	4	39460709	C	T	ENST00000261434	ENSG00000121897	39460620	39479273	ENSP00000261434	LIAS	1	LIAS_HUMAN	-	-	5'_UTR	NA	-	T=0/C=8600;T=5/C=4401;T=5/C=13001	-	-	-	-	het	1
5	4	39460709	C	T	ENST00000340169	ENSG00000121897	39460620	39479273	ENSP00000340676	LIAS	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=5/C=4401;T=5/C=13001	-	-	-	-	het	1
6	4	39460709	C	T	ENST00000381846	ENSG00000121897	39460620	39479273	ENSP00000371270	LIAS	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=5/C=4401;T=5/C=13001	-	-	-	-	het	1
7	4	39460709	C	T	ENST00000424936	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.32C>T	p.P11L	non-syn	NA	-	T=0/C=8600;T=5/C=4401;T=5/C=13001	-	-	-	-	het	1
8	4	39460709	C	T	ENST00000509519	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.45C>T	p.T15T	syn	NA	-	T=0/C=8600;T=5/C=4401;T=5/C=13001	-	-	-	-	het	1
9	4	39460709	C	T	ENST00000513731	ENSG00000121897	39460620	39479273	ENSP00000425580	LIAS	1	-	-	-	5'_UTR	NA	-	T=0/C=8600;T=5/C=4401;T=5/C=13001	-	-	-	-	het	1
10	4	39460737	A	G	ENST00000261434	ENSG00000121897	39460620	39479273	ENSP00000261434	LIAS	1	LIAS_HUMAN	-	-	5'_UTR	rs139360916	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=43:371	-	-	-	het	4
11	4	39460737	A	G	ENST00000340169	ENSG00000121897	39460620	39479273	ENSP00000340676	LIAS	1	-	-	-	5'_UTR	rs139360916	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=43:371	-	-	-	het	4
12	4	39460737	A	G	ENST00000381846	ENSG00000121897	39460620	39479273	ENSP00000371270	LIAS	1	-	-	-	5'_UTR	rs139360916	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=43:371	-	-	-	het	4
13	4	39460737	A	G	ENST00000424936	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.60A>G	p.E20E	syn	rs139360916	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=43:371	-	-	-	het	4
14	4	39460737	A	G	ENST00000509519	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.73A>G	p.N25D	non-syn	rs139360916	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=43:371	-	-	-	het	4
15	4	39460737	A	G	ENST00000513731	ENSG00000121897	39460620	39479273	ENSP00000425580	LIAS	1	-	-	-	5'_UTR	rs139360916	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=43:371	-	-	-	het	4
16	4	39460738	A	G	ENST00000261434	ENSG00000121897	39460620	39479273	ENSP00000261434	LIAS	1	LIAS_HUMAN	c.1A>G	p.M1V	non-syn	NA	-	-	lod=43:371	DAMAGING	P	-	het	1
17	4	39460738	A	G	ENST00000340169	ENSG00000121897	39460620	39479273	ENSP00000340676	LIAS	1	-	c.1A>G	p.M1V	non-syn	NA	-	-	lod=43:371	DAMAGING	P	-	het	1
18	4	39460738	A	G	ENST00000381846	ENSG00000121897	39460620	39479273	ENSP00000371270	LIAS	1	-	c.1A>G	p.M1V	non-syn	NA	-	-	lod=43:371	DAMAGING	P	-	het	1
19	4	39460738	A	G	ENST00000424936	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.61A>G	p.M21V	non-syn	NA	-	-	lod=43:371	DAMAGING	P	-	het	1
20	4	39460738	A	G	ENST00000509519	ENSG00000121897	39460620	39479273	-	LIAS	1	-	c.74A>G	p.N25S	non-syn	NA	-	-	lod=43:371	DAMAGING	P	-	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 LIAS 4:39460620..39479273 region Gbrowse