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 COX6B2:

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
ENSG00000160471	COX6B2	1	0	0	ENSG00000160471	ENST00000588572	ENSP00000467959	cytochrome c oxidase subunit VIb polypeptide 2 (testis) [Source:HGNC Symbol;Acc:24380]	19	55860674	55866182	-1	q13.42	55860674	55866064	COX6B2	COX6B2-004	HGNC Symbol	HGNC transcript name	10	59.97	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	125965	24380	COX6B2		27526

MSeqDR Master Exome Data Set M1: 73 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	19	55861226	T	C	ENST00000326529	ENSG00000160471	55860674	55866182	ENSP00000320672	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	19	55861226	T	C	ENST00000588572	ENSG00000160471	55860674	55866182	ENSP00000467959	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	19	55861226	T	C	ENST00000593184	ENSG00000160471	55860674	55866182	ENSP00000467266	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	19	55865062	T	C	ENST00000326529	ENSG00000160471	55860674	55866182	ENSP00000320672	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	rs144967211	0.0122	C=3/T=8179;C=0/T=3756;C=3/T=11935	-	-	-	-	het	1
5	19	55865062	T	C	ENST00000588572	ENSG00000160471	55860674	55866182	ENSP00000467959	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	rs144967211	0.0122	C=3/T=8179;C=0/T=3756;C=3/T=11935	-	-	-	-	het	1
6	19	55865062	T	C	ENST00000589467	ENSG00000160471	55860674	55866182	-	COX6B2	-1	-	c.382A>G	p.M128V	non-syn	rs144967211	0.0122	C=3/T=8179;C=0/T=3756;C=3/T=11935	-	-	-	-	het	1
7	19	55865062	T	C	ENST00000590900	ENSG00000160471	55860674	55866182	ENSP00000467128	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	rs144967211	0.0122	C=3/T=8179;C=0/T=3756;C=3/T=11935	-	-	-	-	het	1
8	19	55865062	T	C	ENST00000593184	ENSG00000160471	55860674	55866182	ENSP00000467266	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	rs144967211	0.0122	C=3/T=8179;C=0/T=3756;C=3/T=11935	-	-	-	-	het	1
9	19	55865074	G	A	ENST00000326529	ENSG00000160471	55860674	55866182	ENSP00000320672	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	A=2/G=8196;A=0/G=3752;A=2/G=11948	-	-	-	-	het	2
10	19	55865074	G	A	ENST00000588572	ENSG00000160471	55860674	55866182	ENSP00000467959	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	A=2/G=8196;A=0/G=3752;A=2/G=11948	-	-	-	-	het	2
11	19	55865074	G	A	ENST00000589467	ENSG00000160471	55860674	55866182	-	COX6B2	-1	-	c.370C>T	p.L124F	non-syn	NA	-	A=2/G=8196;A=0/G=3752;A=2/G=11948	-	-	-	-	het	2
12	19	55865074	G	A	ENST00000590900	ENSG00000160471	55860674	55866182	ENSP00000467128	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	A=2/G=8196;A=0/G=3752;A=2/G=11948	-	-	-	-	het	2
13	19	55865074	G	A	ENST00000593184	ENSG00000160471	55860674	55866182	ENSP00000467266	COX6B2	-1	CX6B2_HUMAN	-	-	3'_UTR	NA	-	A=2/G=8196;A=0/G=3752;A=2/G=11948	-	-	-	-	het	2
14	19	55865159	C	T	ENST00000326529	ENSG00000160471	55860674	55866182	ENSP00000320672	COX6B2	-1	CX6B2_HUMAN	-	-	-17bp 3'_splice_site	NA	-	T=3/C=8229;T=0/C=3748;T=3/C=11977	-	-	-	-	het	2
15	19	55865159	C	T	ENST00000588572	ENSG00000160471	55860674	55866182	ENSP00000467959	COX6B2	-1	CX6B2_HUMAN	-	-	-17bp 3'_splice_site	NA	-	T=3/C=8229;T=0/C=3748;T=3/C=11977	-	-	-	-	het	2
16	19	55865159	C	T	ENST00000589467	ENSG00000160471	55860674	55866182	-	COX6B2	-1	-	-	-	-17bp 3'_splice_site	NA	-	T=3/C=8229;T=0/C=3748;T=3/C=11977	-	-	-	-	het	2
17	19	55865159	C	T	ENST00000590900	ENSG00000160471	55860674	55866182	ENSP00000467128	COX6B2	-1	CX6B2_HUMAN	-	-	-17bp 3'_splice_site	NA	-	T=3/C=8229;T=0/C=3748;T=3/C=11977	-	-	-	-	het	2
18	19	55865159	C	T	ENST00000593184	ENSG00000160471	55860674	55866182	ENSP00000467266	COX6B2	-1	CX6B2_HUMAN	-	-	-17bp 3'_splice_site	NA	-	T=3/C=8229;T=0/C=3748;T=3/C=11977	-	-	-	-	het	2
19	19	55865252	C	+G	ENST00000326529	ENSG00000160471	55860674	55866182	ENSP00000320672	COX6B2	-1	CX6B2_HUMAN	c.194_195insC	p.S65NA	non-syn	NA	-	-	lod=75:431	-	-	-	het	4
20	19	55865252	C	+G	ENST00000588572	ENSG00000160471	55860674	55866182	ENSP00000467959	COX6B2	-1	CX6B2_HUMAN	c.194_195insC	p.S65NA	non-syn	NA	-	-	lod=75:431	-	-	-	het	4

** 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 COX6B2 19:55860674..55866182 region Gbrowse