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 ZSWIM6:

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
ENSG00000130449	ZSWIM6	0	0	4	ENSG00000130449	ENST00000252744	ENSP00000252744	zinc finger, SWIM-type containing 6 [Source:HGNC Symbol;Acc:29316]	5	60628100	60841997	1	q12.1	60628100	60841997	ZSWIM6	ZSWIM6-001	HGNC Symbol	HGNC transcript name	1	38.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	57688	29316	ZSWIM6	NM_020928	27527

MSeqDR Master Exome Data Set M1: 58 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	5	60628153	G	+GGC	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.54_55insGGC	p.G19NA	non-syn	NA	-	-	lod=713:671	-	-	-	het	44
2	5	60628153	G	-GGC	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.55_57del	p.G19NA	non-syn	NA	-	-	lod=713:671	-	-	-	het	1
3	5	60628153	G	-GGCGGC	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.55_60del	p.G19NA	non-syn	NA	-	-	lod=713:671	-	-	-	het	17
4	5	60628181	A	+GCG	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.82_83insGCG	p.S28NA	non-syn	NA	-	-	lod=713:671	-	-	-	het	6
5	5	60628181	A	+GCG	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.82_83insGCG	p.S28NA	non-syn	NA	-	-	lod=713:671	-	-	-	hom	1
6	5	60628275	G	A	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.176G>A	p.G59D	non-syn	NA	-	-	lod=964:704	TOLERATED	-	-	het	1
7	5	60628393	T	C	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.294T>C	p.F98F	syn	NA	-	-	lod=964:704	-	-	-	het	1
8	5	60628411	G	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.312G>T	p.P104P	syn	rs75429795	0.1667	-	lod=964:704	-	-	-	hom	12
9	5	60628411	G	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.312G>T	p.P104P	syn	rs75429795	0.1667	-	lod=964:704	-	-	-	het	98
10	5	60628414	G	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.315G>T	p.V105V	syn	rs111274143	0.1588	-	lod=964:704	-	-	-	het	104
11	5	60628414	G	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.315G>T	p.V105V	syn	rs111274143	0.1588	-	lod=964:704	-	-	-	hom	12
12	5	60628426	A	C	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.327A>C	p.I109I	syn	NA	-	-	lod=964:704	-	-	-	het	1
13	5	60628432	T	C	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.333T>C	p.Y111Y	syn	NA	-	-	lod=964:704	-	-	-	het	1
14	5	60628450	C	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.351C>T	p.S117S	syn	NA	-	-	lod=964:704	-	-	-	het	1
15	5	60628496	G	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.397G>T	p.A133S	non-syn	NA	-	-	lod=964:704	TOLERATED	-	-	het	1
16	5	60628504	C	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.405C>T	p.G135G	syn	NA	-	-	lod=964:704	-	-	-	het	2
17	5	60628540	G	-GGCGGC	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.442_447del	p.G148NA	non-syn	NA	-	-	lod=964:704	-	-	-	het	2
18	5	60628774	C	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.675C>T	p.V225V	syn	rs76811816	0.1176	-	lod=374:602	-	-	-	het	29
19	5	60628774	C	T	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	c.675C>T	p.V225V	syn	rs76811816	0.1176	-	lod=374:602	-	-	-	hom	6
20	5	60790075	T	C	ENST00000252744	ENSG00000130449	60628100	60841997	ENSP00000252744	ZSWIM6	1	ZSWM6_HUMAN	-	-	-12bp 3'_splice_site	NA	-	C=6/T=3176;C=2/T=1382;C=8/T=4558	-	-	-	-	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 ZSWIM6 5:60628100..60841997 region Gbrowse