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 ENSG00000176340:

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
ENSG00000176340	COX8A	1	5	1	ENSG00000176340	ENST00000314133	ENSP00000321260	cytochrome c oxidase subunit VIIIA (ubiquitous) [Source:HGNC Symbol;Acc:2294]	11	63742079	63744015	1	q13.1	63742079	63744015	COX8A	COX8A-001	HGNC Symbol	HGNC transcript name	1	57	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1351	2294	COX8A	NM_004074	27504

MSeqDR Master Exome Data Set M1: 8 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	11	63742174	C	T	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	c.22C>T	p.L8L	syn	rs7130187	0.0401	T=5/C=8585;T=365/C=4035;T=370/C=12620	lod=56:399	-	-	-	het	9
2	11	63742219	C	T	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	c.67C>T	p.R23C	non-syn	rs144339685	0.0052	T=1/C=8587;T=36/C=4362;T=37/C=12949	lod=20:289	TOLERATED	B	-	het	8
3	11	63742245	G	T	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	c.93G>T	p.P31P	syn	NA	-	-	lod=24:309	-	-	-	het	2
4	11	63742263	C	A	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	c.111C>A	p.I37I	syn	rs61759492	-	A=55/C=8533;A=3/C=4395;A=58/C=12928	-	-	-	-	het	17
5	11	63742282	G	C	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	-	-	+16bp 5'_splice_site	rs200786823	-	-	-	-	-	-	het	2
6	11	63743756	C	A	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	c.174C>A	p.I58I	syn	rs11550240	-	A=1/C=8593;A=0/C=4402;A=1/C=12995	lod=67:419	-	-	-	het	1
7	11	63743950	C	T	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	11	63743950	C	T	ENST00000314133	ENSG00000176340	63742079	63744015	ENSP00000321260	COX8A	1	COX8A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	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 COX8A 11:63742079..63744015 region Gbrowse