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 IDS:

Ensembl Gene ID	Associated Gene Name	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
ENSG00000267816	IDS	72	ENSG00000267816	ENST00000599307	ENSP00000469869	iduronate 2-sulfatase [Source:HGNC Symbol;Acc:5389]	HG1459_PATCH	148558712	148615657	-1	q28	148569009	148585941	IDS	IDS-005	HGNC Symbol	HGNC transcript name	11	45.95	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	3423	5389	IDS		0
ENSG00000269041	IDS	72	ENSG00000269041	ENST00000602087	ENSP00000476749	Iduronate 2-sulfatase (Hunter syndrome), isoform CRA_e; Iduronate 2-sulfatase 14 kDa chain; cDNA FLJ42669 fis, clone BRAMY2022168, highly similar to IDURONATE 2-SULFATASE [Source:UniProtKB/TrEMBL;Acc:B3KWA1]	HG1459_PATCH	148564265	148615657	-1	q28	148564265	148615657	IDS	IDS-006	UniProtKB Gene Name	UniProt transcript name	4	46.6	protein_coding	protein_coding	havana	havana	NOVEL	PUTATIVE	3423	5389			0
ENSG00000010404	IDS	72	ENSG00000010404	ENST00000340855	ENSP00000339801	iduronate 2-sulfatase [Source:HGNC Symbol;Acc:5389]	X	148558521	148615470	-1	q28	148558521	148586877	IDS	IDS-001	HGNC Symbol	HGNC transcript name	11	45.94	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3423	5389	IDS	NM_000202	27516
ENSG00000241489	IDS	72	ENSG00000241489	ENST00000427113		Iduronate 2-sulfatase (Hunter syndrome), isoform CRA_e; Iduronate 2-sulfatase 14 kDa chain; cDNA FLJ42669 fis, clone BRAMY2022168, highly similar to IDURONATE 2-SULFATASE [Source:UniProtKB/TrEMBL;Acc:B3KWA1]	X	148564074	148615470	-1	q28	148583617	148614503	IDS	IDS-002	UniProtKB Gene Name	UniProt transcript name	4	46.59	protein_coding	processed_transcript	havana	havana	KNOWN	KNOWN	3423	5389			27516

Please limit to single gene from the list by clicking

or searching from top right search box.

MSeqDR Master Exome Data Set M1: 250 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	X	148558579	C	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936288	0.07296	-	-	-	-	-	het	5
2	X	148558579	C	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936288	0.07296	-	-	-	-	-	hom	58
3	X	148558580	T	G	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936289	0.0752	-	-	-	-	-	hom	60
4	X	148558580	T	G	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936289	0.0752	-	-	-	-	-	het	11
5	X	148559165	C	T	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936290	0.094	-	-	-	-	-	het	102
6	X	148559165	C	T	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936290	0.094	-	-	-	-	-	hom	59
7	X	148559788	T	C	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs12012551	0.0195	-	-	-	-	-	het	1
8	X	148560024	C	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs73617870	0.0841	-	-	-	-	-	het	8
9	X	148560024	C	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs73617870	0.0841	-	-	-	-	-	hom	4
10	X	148560327	T	C	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs145834006	0.0023	-	-	-	-	-	hom	1
11	X	148560327	T	C	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs145834006	0.0023	-	-	-	-	-	het	1
12	X	148560581	G	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs1141636	0.279	-	-	-	-	-	het	68
13	X	148560581	G	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs1141636	0.279	-	-	-	-	-	hom	42
14	X	148560611	G	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936291	0.0729	-	-	-	-	-	het	35
15	X	148560611	G	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936291	0.0729	-	-	-	-	-	hom	16
16	X	148560642	T	C	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs188442928	0.0161	-	-	-	-	-	het	1
17	X	148560642	T	C	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs188442928	0.0161	-	-	-	-	-	hom	1
18	X	148560697	C	T	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	X	148560698	G	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936292	0.085	-	-	-	-	-	hom	20
20	X	148560698	G	A	ENST00000340855	ENSG00000010404	148558521	148615470	ENSP00000339801	IDS	-1	IDS_HUMAN	-	-	3'_UTR	rs5936292	0.085	-	-	-	-	-	het	73

** 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 IDS X:148558521..148615470 region Gbrowse