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 RFX5:

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
ENSG00000143390	RFX5	0	0	1	ENSG00000143390	ENST00000421986	ENSP00000399372	regulatory factor X, 5 (influences HLA class II expression) [Source:HGNC Symbol;Acc:9986]	1	151313116	151319833	-1	q21.3	151316991	151319682	RFX5	RFX5-017	HGNC Symbol	HGNC transcript name	22	49.78	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	5993	9986	RFX5		27511

MSeqDR Master Exome Data Set M1: 175 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	1	151313141	A	+AAT	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
2	1	151313249	T	G	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	13
3	1	151313249	T	G	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
4	1	151313504	C	T	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs147378847	0.00092	-	-	-	-	-	het	2
5	1	151313578	T	G	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs116826799	0.0085	-	-	-	-	-	het	1
6	1	151313774	A	G	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs7552906	0.63163	-	-	-	-	-	hom	289
7	1	151313774	A	G	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs7552906	0.63163	-	-	-	-	-	het	283
8	1	151313824	T	C	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
9	1	151313967	T	-C	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	1	151313994	A	G	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	1	151314379	T	C	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs1752387	0.76834	-	-	-	-	-	het	242
12	1	151314379	T	C	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs1752387	0.76834	-	-	-	-	-	hom	476
13	1	151314379	T	C	ENST00000368870	ENSG00000143390	151313116	151319833	ENSP00000357864	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs1752387	0.76834	-	-	-	-	-	het	242
14	1	151314379	T	C	ENST00000368870	ENSG00000143390	151313116	151319833	ENSP00000357864	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs1752387	0.76834	-	-	-	-	-	hom	476
15	1	151314418	T	C	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs2233857	0.03597	-	-	-	-	-	hom	2
16	1	151314418	T	C	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs2233857	0.03597	-	-	-	-	-	het	48
17	1	151314418	T	C	ENST00000368870	ENSG00000143390	151313116	151319833	ENSP00000357864	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs2233857	0.03597	-	-	-	-	-	hom	2
18	1	151314418	T	C	ENST00000368870	ENSG00000143390	151313116	151319833	ENSP00000357864	RFX5	-1	RFX5_HUMAN	-	-	3'_UTR	rs2233857	0.03597	-	-	-	-	-	het	48
19	1	151314663	C	-A	ENST00000290524	ENSG00000143390	151313116	151319833	ENSP00000290524	RFX5	-1	RFX5_HUMAN	c.1849_1849del	p.*617NA	non-syn	NA	-	-	lod=71:425	-	-	-	het	2
20	1	151314663	C	-A	ENST00000368870	ENSG00000143390	151313116	151319833	ENSP00000357864	RFX5	-1	RFX5_HUMAN	c.1849_1849del	p.*617NA	non-syn	NA	-	-	lod=71:425	-	-	-	het	2

** 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 RFX5 1:151313116..151319833 region Gbrowse