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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 COG8:

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
ENSG00000213380	COG8	1	0	4	ENSG00000213380	ENST00000564419		component of oligomeric golgi complex 8 [Source:HGNC Symbol;Acc:18623]	16	69354043	69373570	-1	q22.1	69354043	69362569	COG8	COG8-005	HGNC Symbol	HGNC transcript name	5	52.3	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	PUTATIVE	84342	18623	COG8		27514

MSeqDR Master Exome Data Set M1: 81 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	69354269	T	C	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.710A>G	p.Q237R	non-syn	rs193142623	0.0042	-	-	-	-	-	het	3
2	16	69354592	G	A	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.387C>T	p.T129T	syn	rs201543312	-	A=2/G=8284;A=0/G=3892;A=2/G=12176	lod=117:478	-	-	-	het	2
3	16	69354682	C	T	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.297G>A	p.G99G	syn	rs17702834	0.1103	T=1069/C=7293;T=269/C=3825;T=1338/C=11118	-	-	-	-	hom	10
4	16	69354682	C	T	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.297G>A	p.G99G	syn	rs17702834	0.1103	T=1069/C=7293;T=269/C=3825;T=1338/C=11118	-	-	-	-	het	96
5	16	69354861	T	C	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.118A>G	p.I40V	non-syn	NA	-	-	-	-	-	-	het	1
6	16	69354863	C	A	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.116G>T	p.R39L	non-syn	rs113729723	0.0031	-	-	-	-	-	het	8
7	16	69354948	C	G	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	c.31G>C	p.E11Q	non-syn	NA	-	-	lod=122:483	-	-	-	het	1
8	16	69354963	A	G	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	-	-	-14bp 3'_splice_site	rs1127231	0.2505	G=2682/A=5914;G=1673/A=2713;G=4355/A=8627	lod=122:483	-	-	-	het	388
9	16	69354963	A	G	ENST00000564419	ENSG00000213380	69354043	69373570	-	COG8	-1	-	-	-	-14bp 3'_splice_site	rs1127231	0.2505	G=2682/A=5914;G=1673/A=2713;G=4355/A=8627	lod=122:483	-	-	-	hom	103
10	16	69361894	C	-TGGA	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs200962335	-	-	-	-	-	-	het	1
11	16	69362429	C	T	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs111425280	-	-	-	-	-	-	het	1
12	16	69362452	C	G	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs2242413	0.25136	-	-	-	-	-	het	176
13	16	69362452	C	G	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs2242413	0.25136	-	-	-	-	-	hom	32
14	16	69362682	T	C	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
15	16	69362682	T	C	ENST00000562949	ENSG00000213380	69354043	69373570	ENSP00000457718	COG8	-1	-	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
16	16	69362777	T	A	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs1055401	0.05423	-	-	-	-	-	het	71
17	16	69362777	T	A	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs1055401	0.05423	-	-	-	-	-	hom	3
18	16	69362777	T	A	ENST00000562949	ENSG00000213380	69354043	69373570	ENSP00000457718	COG8	-1	-	-	-	3'_UTR	rs1055401	0.05423	-	-	-	-	-	het	71
19	16	69362777	T	A	ENST00000562949	ENSG00000213380	69354043	69373570	ENSP00000457718	COG8	-1	-	-	-	3'_UTR	rs1055401	0.05423	-	-	-	-	-	hom	3
20	16	69362779	C	A	ENST00000306875	ENSG00000213380	69354043	69373570	ENSP00000305459	COG8	-1	COG8_HUMAN	-	-	3'_UTR	rs1055399	0.05147	-	-	-	-	-	het	71

** 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 COG8 16:69354043..69373570 region Gbrowse