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
PMD-VR_Virtual Registry
Collaboration
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 AARS2:

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
ENSG00000124608	AARS2	1	141	56	ENSG00000124608	ENST00000244571	ENSP00000244571	alanyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:21022]	6	44267391	44281063	-1	p21.1	44267391	44281063	AARS2	AARS2-001	HGNC Symbol	HGNC transcript name	2	54.66	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	57505	21022	AARS2	NM_020745	27515

MSeqDR Master Exome Data Set M1: 84 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	6	44267566	G	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs140359685	0.01134	-	-	-	-	-	het	10
2	6	44267650	T	+AGGGCACCCATACC	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs112092257	-	-	-	-	-	-	hom	25
3	6	44267650	T	+AGGGCACCCATACC	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs112092257	-	-	-	-	-	-	het	627
4	6	44267650	T	+AGGGCACCCCCATACC	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	6	44267728	A	+ATTTTTTT	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	6	44267728	A	+T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	12
7	6	44267728	A	+TTTACT	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	6	44267728	A	+TTTAT	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs111990690	-	-	-	-	-	-	hom	165
9	6	44267728	A	+TTTAT	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs111990690	-	-	-	-	-	-	het	292
10	6	44267836	C	A	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	6	44267854	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	6	44267861	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs325011	0.9532	-	-	-	-	-	het	60
13	6	44267861	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs325011	0.9532	-	-	-	-	-	hom	408
14	6	44267918	A	G	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs325010	0.9391	-	-	-	-	-	het	85
15	6	44267918	A	G	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs325010	0.9391	-	-	-	-	-	hom	555
16	6	44267941	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs149050034	0.0217	-	-	-	-	-	het	3
17	6	44267943	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs4714775	0.9507	-	-	-	-	-	het	77
18	6	44267943	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs4714775	0.9507	-	-	-	-	-	hom	571
19	6	44268028	T	C	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs182434401	0.003	-	-	-	-	-	het	1
20	6	44268135	C	T	ENST00000244571	ENSG00000124608	44267391	44281063	ENSP00000244571	AARS2	-1	SYAM_HUMAN	-	-	3'_UTR	rs325009	0.95029	-	-	-	-	-	het	96

** 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 AARS2 6:44267391..44281063 region Gbrowse