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 COX5B:

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
ENSG00000135940	COX5B	1	0	0	ENSG00000135940	ENST00000258424	ENSP00000258424	cytochrome c oxidase subunit Vb [Source:HGNC Symbol;Acc:2269]	2	98262503	98264846	1	q11.2	98262503	98264846	COX5B	COX5B-001	HGNC Symbol	HGNC transcript name	4	50.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1329	2269	COX5B	NM_001862	27508

MSeqDR Master Exome Data Set M1: 27 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	2	98262570	C	T	ENST00000258424	ENSG00000135940	98262503	98264846	ENSP00000258424	COX5B	1	COX5B_HUMAN	c.21C>T	p.R7R	syn	rs114574573	0.0051	T=62/C=8238;T=4/C=4226;T=66/C=12464	lod=111:472	-	-	-	het	11
2	2	98262570	C	T	ENST00000464949	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.11C>T	p.A4V	non-syn	rs114574573	0.0051	T=62/C=8238;T=4/C=4226;T=66/C=12464	lod=111:472	-	-	-	het	11
3	2	98262666	C	T	ENST00000258424	ENSG00000135940	98262503	98264846	ENSP00000258424	COX5B	1	COX5B_HUMAN	-	-	+14bp 5'_splice_site	rs191902361	0.0013	T=9/C=8045;T=0/C=4134;T=9/C=12179	-	-	-	-	het	1
4	2	98262666	C	T	ENST00000464949	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	+14bp 5'_splice_site	rs191902361	0.0013	T=9/C=8045;T=0/C=4134;T=9/C=12179	-	-	-	-	het	1
5	2	98263327	A	+T	ENST00000494306	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.424_425insT	p.S142NA	non-syn	rs35505243	-	-	-	-	-	-	het	18
6	2	98263327	A	+T	ENST00000494306	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.424_425insT	p.S142NA	non-syn	rs35505243	-	-	-	-	-	-	hom	4
7	2	98263422	A	G	ENST00000494306	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.519A>G	p.L173L	syn	rs139240376	0.00652	-	-	-	-	-	het	7
8	2	98263428	T	+A	ENST00000494306	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.525_526insA	p.I176NA	non-syn	NA	-	-	-	-	-	-	het	1
9	2	98263792	T	C	ENST00000258424	ENSG00000135940	98262503	98264846	ENSP00000258424	COX5B	1	COX5B_HUMAN	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
10	2	98263792	T	C	ENST00000464949	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
11	2	98263792	T	C	ENST00000491989	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
12	2	98263792	T	C	ENST00000494306	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
13	2	98263796	T	C	ENST00000258424	ENSG00000135940	98262503	98264846	ENSP00000258424	COX5B	1	COX5B_HUMAN	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
14	2	98263796	T	C	ENST00000464949	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
15	2	98263796	T	C	ENST00000491989	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
16	2	98263796	T	C	ENST00000494306	ENSG00000135940	98262503	98264846	-	COX5B	1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
17	2	98263883	A	G	ENST00000258424	ENSG00000135940	98262503	98264846	ENSP00000258424	COX5B	1	COX5B_HUMAN	c.254A>G	p.N85S	non-syn	rs75630766	0.0141	G=0/A=8600;G=102/A=4304;G=102/A=12904	lod=383:605	TOLERATED	B	-	het	10
18	2	98263883	A	G	ENST00000464949	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.394A>G	p.T132A	non-syn	rs75630766	0.0141	G=0/A=8600;G=102/A=4304;G=102/A=12904	lod=383:605	TOLERATED	B	-	het	10
19	2	98263883	A	G	ENST00000491989	ENSG00000135940	98262503	98264846	-	COX5B	1	-	c.404A>G	p.N135S	non-syn	rs75630766	0.0141	G=0/A=8600;G=102/A=4304;G=102/A=12904	lod=383:605	TOLERATED	B	-	het	10
20	2	98264548	G	A	ENST00000258424	ENSG00000135940	98262503	98264846	ENSP00000258424	COX5B	1	COX5B_HUMAN	c.367G>A	p.V123M	non-syn	rs145135729	-	A=9/G=8591;A=0/G=4406;A=9/G=12997	lod=160:512	DAMAGING	D	-	het	1

** 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 COX5B 2:98262503..98264846 region Gbrowse