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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 COX4I1:

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
ENSG00000131143	COX4I1	1	3	0	ENSG00000131143	ENST00000567266		cytochrome c oxidase subunit IV isoform 1 [Source:HGNC Symbol;Acc:2265]	16	85832239	85840650	1	q24.1	85833303	85839032	COX4I1	COX4I1-019	HGNC Symbol	HGNC transcript name	18	50.84	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	1327	2265	COX4I1		27514

MSeqDR Master Exome Data Set M1: 364 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	85833252	C	T	ENST00000566115	ENSG00000131143	85832239	85840650	ENSP00000455437	COX4I1	1	-	-	-	5'_UTR	rs73259065	-	-	-	-	-	-	het	1
2	16	85833252	C	T	ENST00000568339	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.25C>T	p.R9W	non-syn	rs73259065	-	-	-	-	-	-	het	1
3	16	85833252	C	T	ENST00000570123	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.35C>T	p.A12V	non-syn	rs73259065	-	-	-	-	-	-	het	1
4	16	85833277	G	A	ENST00000566115	ENSG00000131143	85832239	85840650	ENSP00000455437	COX4I1	1	-	-	-	5'_UTR	rs2233448	-	-	-	-	-	-	het	13
5	16	85833277	G	A	ENST00000567241	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.18G>A	p.V6V	syn	rs2233448	-	-	-	-	-	-	het	13
6	16	85833277	G	A	ENST00000568339	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.50G>A	p.W17*	non-syn	rs2233448	-	-	-	-	-	-	het	13
7	16	85833277	G	A	ENST00000570123	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.60G>A	p.V20V	syn	rs2233448	-	-	-	-	-	-	het	13
8	16	85833295	C	G	ENST00000253452	ENSG00000131143	85832239	85840650	ENSP00000253452	COX4I1	1	COX41_HUMAN	-	-	5'_UTR	rs2233447	0.024	-	-	-	-	-	het	12
9	16	85833295	C	G	ENST00000253452	ENSG00000131143	85832239	85840650	ENSP00000253452	COX4I1	1	COX41_HUMAN	-	-	5'_UTR	rs2233447	0.024	-	-	-	-	-	hom	3
10	16	85833295	C	G	ENST00000566115	ENSG00000131143	85832239	85840650	ENSP00000455437	COX4I1	1	-	-	-	5'_UTR	rs2233447	0.024	-	-	-	-	-	het	12
11	16	85833295	C	G	ENST00000566115	ENSG00000131143	85832239	85840650	ENSP00000455437	COX4I1	1	-	-	-	5'_UTR	rs2233447	0.024	-	-	-	-	-	hom	3
12	16	85833295	C	G	ENST00000567241	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.36C>G	p.A12A	syn	rs2233447	0.024	-	-	-	-	-	het	12
13	16	85833295	C	G	ENST00000567241	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.36C>G	p.A12A	syn	rs2233447	0.024	-	-	-	-	-	hom	3
14	16	85833295	C	G	ENST00000568339	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.68C>G	p.P23R	non-syn	rs2233447	0.024	-	-	-	-	-	het	12
15	16	85833295	C	G	ENST00000568339	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.68C>G	p.P23R	non-syn	rs2233447	0.024	-	-	-	-	-	hom	3
16	16	85833295	C	G	ENST00000568794	ENSG00000131143	85832239	85840650	ENSP00000455030	COX4I1	1	-	-	-	5'_UTR	rs2233447	0.024	-	-	-	-	-	het	12
17	16	85833295	C	G	ENST00000568794	ENSG00000131143	85832239	85840650	ENSP00000455030	COX4I1	1	-	-	-	5'_UTR	rs2233447	0.024	-	-	-	-	-	hom	3
18	16	85833295	C	G	ENST00000570123	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.78C>G	p.A26A	syn	rs2233447	0.024	-	-	-	-	-	het	12
19	16	85833295	C	G	ENST00000570123	ENSG00000131143	85832239	85840650	-	COX4I1	1	-	c.78C>G	p.A26A	syn	rs2233447	0.024	-	-	-	-	-	hom	3
20	16	85834780	C	T	ENST00000561569	ENSG00000131143	85832239	85840650	ENSP00000457015	COX4I1	1	COX41_HUMAN	-	-	-10bp 3'_splice_site	NA	-	T=4/C=8596;T=0/C=4396;T=4/C=12992	-	-	-	-	het	2

** 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 COX4I1 16:85832239..85840650 region Gbrowse