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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 COX8C:

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
ENSG00000187581	COX8C	1	0	0	ENSG00000187581	ENST00000342144	ENSP00000340568	cytochrome c oxidase subunit VIIIC [Source:HGNC Symbol;Acc:24382]	14	93813537	93814702	1	q32.12	93813537	93814702	COX8C	COX8C-001	HGNC Symbol	HGNC transcript name	1	53.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	341947	24382	COX8C	NM_182971	27520

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	14	93813555	G	A	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	14	93813619	C	G	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.5C>G	p.P2R	non-syn	rs201659311	-	-	-	DAMAGING	D	-	het	1
3	14	93813642	G	-C	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.29_29del	p.A10NA	non-syn	NA	-	-	-	-	-	-	het	1
4	14	93813725	G	A	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.111G>A	p.R37R	syn	NA	-	-	-	-	-	-	het	1
5	14	93813725	G	T	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.111G>T	p.R37R	syn	rs201840112	-	-	-	-	-	-	het	8
6	14	93813725	G	T	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.111G>T	p.R37R	syn	rs201840112	-	-	-	-	-	-	hom	2
7	14	93813726	C	T	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.112C>T	p.P38S	non-syn	rs114399408	0.1098	T=27/C=6207;T=308/C=2664;T=335/C=8871	-	TOLERATED	D	-	hom	3
8	14	93813726	C	T	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	c.112C>T	p.P38S	non-syn	rs114399408	0.1098	T=27/C=6207;T=308/C=2664;T=335/C=8871	-	TOLERATED	D	-	het	8
9	14	93814355	G	A	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	-19bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
10	14	93814358	T	C	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	-16bp 3'_splice_site	NA	-	C=5/T=8595;C=0/T=4406;C=5/T=13001	-	-	-	-	het	2
11	14	93814493	A	G	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	3'_UTR	rs58621064	0.1676	G=845/A=7755;G=1085/A=3321;G=1930/A=11076	-	-	-	-	het	166
12	14	93814493	A	G	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	3'_UTR	rs58621064	0.1676	G=845/A=7755;G=1085/A=3321;G=1930/A=11076	-	-	-	-	hom	7
13	14	93814585	C	T	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	3'_UTR	rs61196248	0.0252	-	-	-	-	-	het	2
14	14	93814637	A	C	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
15	14	93814692	G	A	ENST00000342144	ENSG00000187581	93813537	93814702	ENSP00000340568	COX8C	1	COX8C_HUMAN	-	-	3'_UTR	rs181405630	0.00182	-	-	-	-	-	het	3

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding COX8C 14:93813537..93814702 region Gbrowse