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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 COX4I2:

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
ENSG00000131055	COX4I2	1	1	2	ENSG00000131055	ENST00000376075	ENSP00000365243	cytochrome c oxidase subunit IV isoform 2 (lung) [Source:HGNC Symbol;Acc:16232]	20	30225691	30232809	1	q11.21	30225691	30232809	COX4I2	COX4I2-001	HGNC Symbol	HGNC transcript name	2	52.35	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84701	16232	COX4I2	NM_032609	27522

MSeqDR Master Exome Data Set M1: 15 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	20	30226815	C	T	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	-	-	-6bp 3'_splice_site	rs201853480	-	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
2	20	30226815	C	T	ENST00000490030	ENSG00000131055	30225691	30232809	-	COX4I2	1	-	-	-	-6bp 3'_splice_site	rs201853480	-	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
3	20	30227724	T	-TG	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	-	-	-10bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	10
4	20	30227724	T	-TG	ENST00000490030	ENSG00000131055	30225691	30232809	-	COX4I2	1	-	-	-	-10bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	10
5	20	30227726	G	T	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	-	-	-10bp 3'_splice_site	rs141555235	0.0031	T=0/G=8600;T=36/G=4370;T=36/G=12970	lod=13:243	-	-	-	het	3
6	20	30227726	G	T	ENST00000490030	ENSG00000131055	30225691	30232809	-	COX4I2	1	-	-	-	-10bp 3'_splice_site	rs141555235	0.0031	T=0/G=8600;T=36/G=4370;T=36/G=12970	lod=13:243	-	-	-	het	3
7	20	30227741	G	C	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	c.88G>C	p.G30R	non-syn	rs148327783	-	C=21/G=8579;C=1/G=4405;C=22/G=12984	-	TOLERATED	B	-	het	1
8	20	30227741	G	C	ENST00000490030	ENSG00000131055	30225691	30232809	-	COX4I2	1	-	c.118G>C	p.G40R	non-syn	rs148327783	-	C=21/G=8579;C=1/G=4405;C=22/G=12984	-	TOLERATED	B	-	het	1
9	20	30227767	C	T	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	c.114C>T	p.T38T	syn	rs61759491	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	-	-	-	het	2
10	20	30227767	C	T	ENST00000490030	ENSG00000131055	30225691	30232809	-	COX4I2	1	-	c.144C>T	p.T48T	syn	rs61759491	-	T=7/C=8593;T=1/C=4405;T=8/C=12998	-	-	-	-	het	2
11	20	30231212	C	T	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	c.253C>T	p.R85W	non-syn	rs149245323	-	T=7/C=8593;T=0/C=4406;T=7/C=12999	lod=61:409	DAMAGING	D	-	het	1
12	20	30231248	C	T	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	c.289C>T	p.R97C	non-syn	NA	-	-	lod=133:492	DAMAGING	D	-	het	2
13	20	30232673	G	A	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	c.482G>A	p.R161H	non-syn	rs11907253	0.0948	A=702/G=7898;A=411/G=3995;A=1113/G=11893	lod=155:508	TOLERATED	B	-	het	122
14	20	30232673	G	A	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	c.482G>A	p.R161H	non-syn	rs11907253	0.0948	A=702/G=7898;A=411/G=3995;A=1113/G=11893	lod=155:508	TOLERATED	B	-	hom	4
15	20	30232738	C	T	ENST00000376075	ENSG00000131055	30225691	30232809	ENSP00000365243	COX4I2	1	COX42_HUMAN	-	-	3'_UTR	rs181681154	0.0084	T=1/C=8599;T=11/C=4395;T=12/C=12994	-	-	-	-	het	7

** 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**,
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Transcripts and variants in the surrounding COX4I2 20:30225691..30232809 region Gbrowse