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 ARMS2:

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
ENSG00000254636	ARMS2	1	0	2	ENSG00000254636	ENST00000528446	ENSP00000436682	age-related maculopathy susceptibility 2 [Source:HGNC Symbol;Acc:32685]	10	124214169	124216868	1	q26.13	124214169	124216868	ARMS2	ARMS2-001	HGNC Symbol	HGNC transcript name	1	44.26	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	387715	32685	ARMS2	NM_001099667	27525

MSeqDR Master Exome Data Set M1: 25 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	124214251	G	A	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.8G>A	p.R3H	non-syn	rs10490923	0.12689	A=1091/G=7319;A=148/G=3996;A=1239/G=11315	-	-	-	-	hom	17
2	10	124214251	G	A	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.8G>A	p.R3H	non-syn	rs10490923	0.12689	A=1091/G=7319;A=148/G=3996;A=1239/G=11315	-	-	-	-	het	185
3	10	124214282	G	A	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.39G>A	p.A13A	syn	rs200123144	-	A=1/G=8385;A=0/G=4098;A=1/G=12483	-	-	-	-	het	1
4	10	124214352	C	T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.109C>T	p.L37L	syn	NA	-	-	-	-	-	-	het	1
5	10	124214355	C	T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.112C>T	p.R38*	non-syn	rs2736911	0.13653	T=1274/C=7116;T=288/C=3772;T=1562/C=10888	-	-	-	Alzheimer disease, reduced risk, association with ?	het	266
6	10	124214355	C	T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.112C>T	p.R38*	non-syn	rs2736911	0.13653	T=1274/C=7116;T=288/C=3772;T=1562/C=10888	-	-	-	Alzheimer disease, reduced risk, association with ?	hom	38
7	10	124214448	G	T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.205G>T	p.A69S	non-syn	rs10490924	0.3356	T=1724/G=6652;T=824/G=3200;T=2548/G=9852	-	-	-	Macular degeneration, age-related, in smokers, association with	het	340
8	10	124214448	G	T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	c.205G>T	p.A69S	non-syn	rs10490924	0.3356	T=1724/G=6652;T=824/G=3200;T=2548/G=9852	-	-	-	Macular degeneration, age-related, in smokers, association with	hom	57
9	10	124216409	T	+G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
10	10	124216410	A	G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	-13bp 3'_splice_site	rs7088128	0.10589	G=548/A=3676;G=216/A=1758;G=764/A=5434	-	-	-	-	het	153
11	10	124216410	A	G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	-13bp 3'_splice_site	rs7088128	0.10589	G=548/A=3676;G=216/A=1758;G=764/A=5434	-	-	-	-	hom	9
12	10	124216410	A	-T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	-12bp 3'_splice_site	NA	-	G=548/A=3676;G=216/A=1758;G=764/A=5434	-	-	-	-	het	1
13	10	124216556	T	G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	rs183542198	0.00096	-	-	-	-	-	het	2
14	10	124216653	C	A	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	rs79134213	0.0042	-	-	-	-	-	het	4
15	10	124216700	T	C	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	10	124216746	A	T	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	10	124216818	C	-G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	32
18	10	124216822	T	G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	rs4752698	0.14398	-	-	-	-	-	het	92
19	10	124216822	T	G	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	rs4752698	0.14398	-	-	-	-	-	hom	8
20	10	124216825	T	C	ENST00000528446	ENSG00000254636	124214169	124216868	ENSP00000436682	ARMS2	1	ARMS2_HUMAN	-	-	3'_UTR	rs2672602	-	-	-	-	-	-	het	92

** 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 ARMS2 10:124214169..124216868 region Gbrowse