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 AARS:

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
ENSG00000090861	AARS	0	0	22	ENSG00000090861	ENST00000261772	ENSP00000261772	alanyl-tRNA synthetase [Source:HGNC Symbol;Acc:20]	16	70286198	70323446	-1	q22.1	70286198	70323446	AARS	AARS-001	HGNC Symbol	HGNC transcript name	7	49.47	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	16	20	AARS	NM_001605	27514

MSeqDR Master Exome Data Set M1: 104 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	70286550	T	A	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	-	-	3'_UTR	rs11537663	0.07264	-	-	-	-	-	het	64
2	16	70286550	T	A	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	-	-	3'_UTR	rs11537663	0.07264	-	-	-	-	-	hom	4
3	16	70286553	A	C	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
4	16	70286612	C	G	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	16	70286631	T	A	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2900A>T	p.K967M	non-syn	rs35744709	0.0104	A=116/T=8484;A=18/T=4378;A=134/T=12862	lod=140:497	DAMAGING	D	-	hom	3
6	16	70286631	T	A	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2900A>T	p.K967M	non-syn	rs35744709	0.0104	A=116/T=8484;A=18/T=4378;A=134/T=12862	lod=140:497	DAMAGING	D	-	het	36
7	16	70286740	C	T	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2791G>A	p.G931S	non-syn	rs149377346	0.0021	T=91/C=8509;T=8/C=4388;T=99/C=12897	lod=696:669	TOLERATED	P	-	het	42
8	16	70286740	C	T	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2791G>A	p.G931S	non-syn	rs149377346	0.0021	T=91/C=8509;T=8/C=4388;T=99/C=12897	lod=696:669	TOLERATED	P	-	hom	1
9	16	70287177	A	G	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2715T>C	p.V905V	syn	rs4081753	0.77545	G=6826/A=1774;G=4210/A=186;G=11036/A=1960	lod=123:483	-	-	-	hom	638
10	16	70287177	A	G	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2715T>C	p.V905V	syn	rs4081753	0.77545	G=6826/A=1774;G=4210/A=186;G=11036/A=1960	lod=123:483	-	-	-	het	209
11	16	70287192	C	T	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2700G>A	p.T900T	syn	rs140814462	-	T=0/C=8600;T=1/C=4395;T=1/C=12995	lod=212:542	-	-	-	het	1
12	16	70287496	C	G	ENST00000569825	ENSG00000090861	70286198	70323446	-	AARS	-1	-	c.734G>C	p.W245S	non-syn	NA	-	-	-	-	-	-	het	1
13	16	70287574	A	G	ENST00000569825	ENSG00000090861	70286198	70323446	-	AARS	-1	-	c.656T>C	p.L219P	non-syn	rs8045571	0.1361	G=7/A=8593;G=965/A=3431;G=972/A=12024	-	TOLERATED	-	-	het	7
14	16	70287574	A	G	ENST00000569825	ENSG00000090861	70286198	70323446	-	AARS	-1	-	c.656T>C	p.L219P	non-syn	rs8045571	0.1361	G=7/A=8593;G=965/A=3431;G=972/A=12024	-	TOLERATED	-	-	hom	1
15	16	70287586	C	+T	ENST00000569825	ENSG00000090861	70286198	70323446	-	AARS	-1	-	c.643_644insA	p.R215NA	non-syn	NA	-	-	-	-	-	-	het	3
16	16	70287706	G	A	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	-	-	-3bp 3'_splice_site	rs200586605	-	A=29/G=8571;A=1/G=4395;A=30/G=12966	-	-	-	-	het	3
17	16	70287706	G	A	ENST00000569825	ENSG00000090861	70286198	70323446	-	AARS	-1	-	-	-	-3bp 3'_splice_site	rs200586605	-	A=29/G=8571;A=1/G=4395;A=30/G=12966	-	-	-	-	het	3
18	16	70287883	T	C	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	c.2459A>G	p.K820R	non-syn	rs147319762	0.00881	C=14/T=8586;C=2/T=4394;C=16/T=12980	lod=167:516	DAMAGING	D	-	het	7
19	16	70287883	T	C	ENST00000569825	ENSG00000090861	70286198	70323446	-	AARS	-1	-	c.465A>G	p.Q155Q	syn	rs147319762	0.00881	C=14/T=8586;C=2/T=4394;C=16/T=12980	lod=167:516	DAMAGING	D	-	het	7
20	16	70288653	G	A	ENST00000261772	ENSG00000090861	70286198	70323446	ENSP00000261772	AARS	-1	SYAC_HUMAN	-	-	-16bp 3'_splice_site	NA	-	A=2/G=8598;A=0/G=4396;A=2/G=12994	-	-	-	-	het	3

** 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 AARS 16:70286198..70323446 region Gbrowse