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 CYBA:

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
ENSG00000051523	CYBA	1	32	15	ENSG00000051523	ENST00000261623	ENSP00000261623	cytochrome b-245, alpha polypeptide [Source:HGNC Symbol;Acc:2577]	16	88709691	88717560	-1	q24.3	88709691	88717560	CYBA	CYBA-001	HGNC Symbol	HGNC transcript name	10	61.89	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1535	2577	CYBA	NM_000101	27514

MSeqDR Master Exome Data Set M1: 193 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	16	88709712	A	G	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	-	-	3'_UTR	rs7195830	0.6113	G=4449/A=1731;G=2632/A=402;G=7081/A=2133	-	-	-	-	het	326
2	16	88709712	A	G	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	-	-	3'_UTR	rs7195830	0.6113	G=4449/A=1731;G=2632/A=402;G=7081/A=2133	-	-	-	-	hom	279
3	16	88709737	C	T	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	-	-	3'_UTR	rs1049255	0.4927	-	-	-	-	Coronary artery disease, increased risk, association with	hom	196
4	16	88709737	C	T	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	-	-	3'_UTR	rs1049255	0.4927	-	-	-	-	Coronary artery disease, increased risk, association with	het	337
5	16	88709752	G	A	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	16	88709814	G	+C	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.534_535insG	p.P179NA	non-syn	NA	-	-	-	-	-	-	het	1
7	16	88709817	C	A	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.532G>T	p.G178*	non-syn	NA	-	-	-	TOLERATED	NA	-	het	4
8	16	88709828	A	G	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.521T>C	p.V174A	non-syn	rs1049254	0.6239	G=3364/A=1990;G=1815/A=395;G=5179/A=2385	-	TOLERATED	NA	HGMD	het	297
9	16	88709828	A	G	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.521T>C	p.V174A	non-syn	rs1049254	0.6239	G=3364/A=1990;G=1815/A=395;G=5179/A=2385	-	TOLERATED	NA	HGMD	hom	268
10	16	88709869	C	T	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.480G>A	p.P160P	syn	rs72547284	0.0327	T=77/C=5181;T=5/C=2091;T=82/C=7272	lod=25:313	-	-	-	het	30
11	16	88709869	C	T	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.480G>A	p.P160P	syn	rs72547284	0.0327	T=77/C=5181;T=5/C=2091;T=82/C=7272	lod=25:313	-	-	-	hom	3
12	16	88709951	G	C	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.398C>G	p.P133R	non-syn	NA	-	-	lod=59:405	DAMAGING	D	-	hom	1
13	16	88709951	G	C	ENST00000565588	ENSG00000051523	88709691	88717560	ENSP00000455537	CYBA	-1	-	c.192C>G	p.A64A	syn	NA	-	-	lod=59:405	DAMAGING	D	-	hom	1
14	16	88709951	G	C	ENST00000566229	ENSG00000051523	88709691	88717560	ENSP00000457060	CYBA	-1	-	c.387C>G	p.A129A	syn	NA	-	-	lod=59:405	DAMAGING	D	-	hom	1
15	16	88709951	G	C	ENST00000566534	ENSG00000051523	88709691	88717560	-	CYBA	-1	-	c.977C>G	p.P326R	non-syn	NA	-	-	lod=59:405	DAMAGING	D	-	hom	1
16	16	88709968	A	G	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.381T>C	p.R127R	syn	rs12123	0.0169	G=147/A=5971;G=8/A=2838;G=155/A=8809	-	-	-	-	het	10
17	16	88709968	A	G	ENST00000261623	ENSG00000051523	88709691	88717560	ENSP00000261623	CYBA	-1	CY24A_HUMAN	c.381T>C	p.R127R	syn	rs12123	0.0169	G=147/A=5971;G=8/A=2838;G=155/A=8809	-	-	-	-	hom	1
18	16	88709968	A	G	ENST00000565588	ENSG00000051523	88709691	88717560	ENSP00000455537	CYBA	-1	-	c.175T>C	p.W59R	non-syn	rs12123	0.0169	G=147/A=5971;G=8/A=2838;G=155/A=8809	-	-	-	-	het	10
19	16	88709968	A	G	ENST00000565588	ENSG00000051523	88709691	88717560	ENSP00000455537	CYBA	-1	-	c.175T>C	p.W59R	non-syn	rs12123	0.0169	G=147/A=5971;G=8/A=2838;G=155/A=8809	-	-	-	-	hom	1
20	16	88709968	A	G	ENST00000566229	ENSG00000051523	88709691	88717560	ENSP00000457060	CYBA	-1	-	c.370T>C	p.W124R	non-syn	rs12123	0.0169	G=147/A=5971;G=8/A=2838;G=155/A=8809	-	-	-	-	het	10

** 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 CYBA 16:88709691..88717560 region Gbrowse