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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 ENSG00000178449:

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
ENSG00000178449	COX14	1	6	3	ENSG00000178449	ENST00000550487	ENSP00000446524	cytochrome c oxidase assembly homolog 14 (S. cerevisiae) [Source:HGNC Symbol;Acc:28216]	12	50505762	50514240	1	q13.12	50505762	50514234	COX14	COX14-001	HGNC Symbol	HGNC transcript name	4	49.49	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84987	28216	COX14	NM_001257134	27519

MSeqDR Master Exome Data Set M1: 30 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	12	50506690	C	-GTTAT	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	-	-	+4bp 5'_splice_site	rs140120323	-	-	-	-	-	-	het	1
2	12	50506690	C	-GTTAT	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	-	-	+4bp 5'_splice_site	rs140120323	-	-	-	-	-	-	hom	2
3	12	50512279	C	T	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	-	-	5'_UTR	rs55639096	0.5643	-	-	-	-	-	hom	2
4	12	50512279	C	T	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	-	-	5'_UTR	rs55639096	0.5643	-	-	-	-	-	het	3
5	12	50512293	G	A	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	-	-	5'_UTR	rs12229758	0.5623	-	-	-	-	-	het	4
6	12	50512293	G	A	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	-	-	5'_UTR	rs12229758	0.5623	-	-	-	-	-	hom	2
7	12	50513900	A	G	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	c.74A>G	p.Y25C	non-syn	rs143095605	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=65:415	DAMAGING	D	-	het	3
8	12	50513900	A	G	ENST00000548985	ENSG00000178449	50505762	50514240	ENSP00000447776	COX14	1	COX14_HUMAN	c.74A>G	p.Y25C	non-syn	rs143095605	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=65:415	DAMAGING	D	-	het	3
9	12	50513900	A	G	ENST00000550487	ENSG00000178449	50505762	50514240	ENSP00000446524	COX14	1	COX14_HUMAN	c.74A>G	p.Y25C	non-syn	rs143095605	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=65:415	DAMAGING	D	-	het	3
10	12	50513900	A	G	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	c.74A>G	p.Y25C	non-syn	rs143095605	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=65:415	DAMAGING	D	-	het	3
11	12	50513947	C	T	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	c.121C>T	p.R41C	non-syn	rs148220171	-	T=0/C=8600;T=2/C=4404;T=2/C=13004	lod=13:243	DAMAGING	D	-	het	1
12	12	50513947	C	T	ENST00000548985	ENSG00000178449	50505762	50514240	ENSP00000447776	COX14	1	COX14_HUMAN	c.121C>T	p.R41C	non-syn	rs148220171	-	T=0/C=8600;T=2/C=4404;T=2/C=13004	lod=13:243	DAMAGING	D	-	het	1
13	12	50513947	C	T	ENST00000550487	ENSG00000178449	50505762	50514240	ENSP00000446524	COX14	1	COX14_HUMAN	c.121C>T	p.R41C	non-syn	rs148220171	-	T=0/C=8600;T=2/C=4404;T=2/C=13004	lod=13:243	DAMAGING	D	-	het	1
14	12	50513947	C	T	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	c.121C>T	p.R41C	non-syn	rs148220171	-	T=0/C=8600;T=2/C=4404;T=2/C=13004	lod=13:243	DAMAGING	D	-	het	1
15	12	50513976	A	G	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	c.150A>G	p.E50E	syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=49:385	-	-	-	het	1
16	12	50513976	A	G	ENST00000548985	ENSG00000178449	50505762	50514240	ENSP00000447776	COX14	1	COX14_HUMAN	c.150A>G	p.E50E	syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=49:385	-	-	-	het	1
17	12	50513976	A	G	ENST00000550487	ENSG00000178449	50505762	50514240	ENSP00000446524	COX14	1	COX14_HUMAN	c.150A>G	p.E50E	syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=49:385	-	-	-	het	1
18	12	50513976	A	G	ENST00000550654	ENSG00000178449	50505762	50514240	ENSP00000450331	COX14	1	COX14_HUMAN	c.150A>G	p.E50E	syn	NA	-	G=1/A=8599;G=0/A=4406;G=1/A=13005	lod=49:385	-	-	-	het	1
19	12	50514059	A	C	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
20	12	50514059	A	C	ENST00000317943	ENSG00000178449	50505762	50514240	ENSP00000326052	COX14	1	COX14_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding COX14 12:50505762..50514240 region Gbrowse