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 COX17:

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
ENSG00000138495	COX17	1	0	0	ENSG00000138495	ENST00000490145	ENSP00000420406	COX17 cytochrome c oxidase copper chaperone [Source:HGNC Symbol;Acc:2264]	3	119373360	119396301	-1	q13.33	119373360	119395769	COX17	COX17-007	HGNC Symbol	HGNC transcript name	7	41.28	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	10063	2264	COX17		27517

MSeqDR Master Exome Data Set M1: 25 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	3	119378872	G	A	ENST00000490145	ENSG00000138495	119373360	119396301	ENSP00000420406	COX17	-1	-	-	-	3'_UTR	rs1880040	0.44455	A=3806/G=4794;A=1394/G=3012;A=5200/G=7806	lod=83:441	-	-	-	het	498
2	3	119378872	G	A	ENST00000490145	ENSG00000138495	119373360	119396301	ENSP00000420406	COX17	-1	-	-	-	3'_UTR	rs1880040	0.44455	A=3806/G=4794;A=1394/G=3012;A=5200/G=7806	lod=83:441	-	-	-	hom	218
3	3	119378977	G	A	ENST00000468918	ENSG00000138495	119373360	119396301	ENSP00000417805	COX17	-1	COX17_HUMAN	-	-	3'_UTR	rs2873788	0.14911	A=1667/G=6933;A=164/G=4242;A=1831/G=11175	lod=45:376	-	-	-	hom	42
4	3	119378977	G	A	ENST00000468918	ENSG00000138495	119373360	119396301	ENSP00000417805	COX17	-1	COX17_HUMAN	-	-	3'_UTR	rs2873788	0.14911	A=1667/G=6933;A=164/G=4242;A=1831/G=11175	lod=45:376	-	-	-	het	288
5	3	119378979	G	A	ENST00000468918	ENSG00000138495	119373360	119396301	ENSP00000417805	COX17	-1	COX17_HUMAN	-	-	3'_UTR	rs201434582	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=45:376	DAMAGING	D	-	het	1
6	3	119393537	T	C	ENST00000486606	ENSG00000138495	119373360	119396301	ENSP00000417120	COX17	-1	-	-	-	3'_UTR	rs115819527	0.01638	-	-	-	-	-	het	1
7	3	119393537	T	C	ENST00000497116	ENSG00000138495	119373360	119396301	ENSP00000417923	COX17	-1	COX17_HUMAN	-	-	3'_UTR	rs115819527	0.01638	-	-	-	-	-	het	1
8	3	119394168	C	T	ENST00000497997	ENSG00000138495	119373360	119396301	-	COX17	-1	-	c.257G>A	p.R86H	non-syn	rs2293235	0.19495	-	-	-	-	-	het	308
9	3	119394168	C	T	ENST00000497997	ENSG00000138495	119373360	119396301	-	COX17	-1	-	c.257G>A	p.R86H	non-syn	rs2293235	0.19495	-	-	-	-	-	hom	58
10	3	119394169	G	A	ENST00000497997	ENSG00000138495	119373360	119396301	-	COX17	-1	-	c.256C>T	p.R86C	non-syn	NA	-	-	-	-	-	-	het	2
11	3	119395662	C	G	ENST00000490145	ENSG00000138495	119373360	119396301	ENSP00000420406	COX17	-1	-	c.108G>C	p.K36N	non-syn	rs523476	0.4249	-	-	-	-	-	het	357
12	3	119395662	C	G	ENST00000490145	ENSG00000138495	119373360	119396301	ENSP00000420406	COX17	-1	-	c.108G>C	p.K36N	non-syn	rs523476	0.4249	-	-	-	-	-	hom	102
13	3	119395799	A	C	ENST00000484810	ENSG00000138495	119373360	119396301	ENSP00000417651	COX17	-1	-	c.122T>G	p.V41G	non-syn	rs2280578	0.3315	-	-	-	-	-	het	262
14	3	119395799	A	C	ENST00000484810	ENSG00000138495	119373360	119396301	ENSP00000417651	COX17	-1	-	c.122T>G	p.V41G	non-syn	rs2280578	0.3315	-	-	-	-	-	hom	74
15	3	119395816	A	+GT	ENST00000484810	ENSG00000138495	119373360	119396301	ENSP00000417651	COX17	-1	-	-	-	-3bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
16	3	119396109	T	C	ENST00000261070	ENSG00000138495	119373360	119396301	ENSP00000261070	COX17	-1	COX17_HUMAN	c.49A>G	p.K17E	non-syn	NA	-	-	lod=286:574	TOLERATED	B	-	het	1
17	3	119396109	T	C	ENST00000468918	ENSG00000138495	119373360	119396301	ENSP00000417805	COX17	-1	COX17_HUMAN	c.49A>G	p.K17E	non-syn	NA	-	-	lod=286:574	TOLERATED	B	-	het	1
18	3	119396109	T	C	ENST00000484810	ENSG00000138495	119373360	119396301	ENSP00000417651	COX17	-1	-	c.49A>G	p.K17E	non-syn	NA	-	-	lod=286:574	TOLERATED	B	-	het	1
19	3	119396109	T	C	ENST00000486606	ENSG00000138495	119373360	119396301	ENSP00000417120	COX17	-1	-	c.33A>G	p.R11R	syn	NA	-	-	lod=286:574	TOLERATED	B	-	het	1
20	3	119396109	T	C	ENST00000497116	ENSG00000138495	119373360	119396301	ENSP00000417923	COX17	-1	COX17_HUMAN	c.49A>G	p.K17E	non-syn	NA	-	-	lod=286:574	TOLERATED	B	-	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 COX17 3:119373360..119396301 region Gbrowse