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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 COG7:

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
ENSG00000168434	COG7	1	0	5	ENSG00000168434	ENST00000307149	ENSP00000305442	component of oligomeric golgi complex 7 [Source:HGNC Symbol;Acc:18622]	16	23399814	23464501	-1	p12.2	23399814	23464501	COG7	COG7-001	HGNC Symbol	HGNC transcript name	6	45.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	91949	18622	COG7	NM_153603	27514

MSeqDR Master Exome Data Set M1: 93 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	23399945	C	-T	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	rs35413446	-	-	-	-	-	-	het	79
2	16	23399945	C	-TT	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	31
3	16	23400054	T	C	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	rs250588	0.4514	-	lod=14:251	-	-	-	hom	24
4	16	23400054	T	C	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	rs250588	0.4514	-	lod=14:251	-	-	-	het	204
5	16	23400054	T	C	ENST00000566364	ENSG00000168434	23399814	23464501	-	COG7	-1	-	c.847A>G	p.S283G	non-syn	rs250588	0.4514	-	lod=14:251	-	-	-	hom	24
6	16	23400054	T	C	ENST00000566364	ENSG00000168434	23399814	23464501	-	COG7	-1	-	c.847A>G	p.S283G	non-syn	rs250588	0.4514	-	lod=14:251	-	-	-	het	204
7	16	23400100	C	T	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	16	23400100	C	T	ENST00000561854	ENSG00000168434	23399814	23464501	ENSP00000459872	COG7	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
9	16	23400100	C	T	ENST00000566364	ENSG00000168434	23399814	23464501	-	COG7	-1	-	c.801G>A	p.T267T	syn	NA	-	-	-	-	-	-	het	3
10	16	23400111	G	A	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	16	23400111	G	A	ENST00000561854	ENSG00000168434	23399814	23464501	ENSP00000459872	COG7	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	16	23400111	G	A	ENST00000566364	ENSG00000168434	23399814	23464501	-	COG7	-1	-	c.790C>T	p.R264W	non-syn	NA	-	-	-	-	-	-	het	1
13	16	23400194	G	A	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	rs250587	0.2406	A=1452/G=7148;A=1217/G=3177;A=2669/G=10325	-	-	-	-	het	283
14	16	23400194	G	A	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	rs250587	0.2406	A=1452/G=7148;A=1217/G=3177;A=2669/G=10325	-	-	-	-	hom	15
15	16	23400194	G	A	ENST00000561854	ENSG00000168434	23399814	23464501	ENSP00000459872	COG7	-1	-	-	-	3'_UTR	rs250587	0.2406	A=1452/G=7148;A=1217/G=3177;A=2669/G=10325	-	-	-	-	het	283
16	16	23400194	G	A	ENST00000561854	ENSG00000168434	23399814	23464501	ENSP00000459872	COG7	-1	-	-	-	3'_UTR	rs250587	0.2406	A=1452/G=7148;A=1217/G=3177;A=2669/G=10325	-	-	-	-	hom	15
17	16	23400194	G	A	ENST00000566364	ENSG00000168434	23399814	23464501	-	COG7	-1	-	c.707C>T	p.A236V	non-syn	rs250587	0.2406	A=1452/G=7148;A=1217/G=3177;A=2669/G=10325	-	-	-	-	het	283
18	16	23400194	G	A	ENST00000566364	ENSG00000168434	23399814	23464501	-	COG7	-1	-	c.707C>T	p.A236V	non-syn	rs250587	0.2406	A=1452/G=7148;A=1217/G=3177;A=2669/G=10325	-	-	-	-	hom	15
19	16	23400211	G	C	ENST00000307149	ENSG00000168434	23399814	23464501	ENSP00000305442	COG7	-1	COG7_HUMAN	-	-	3'_UTR	rs200982091	-	C=24/G=8576;C=1/G=4393;C=25/G=12969	-	-	-	-	het	1
20	16	23400211	G	C	ENST00000561854	ENSG00000168434	23399814	23464501	ENSP00000459872	COG7	-1	-	-	-	3'_UTR	rs200982091	-	C=24/G=8576;C=1/G=4393;C=25/G=12969	-	-	-	-	het	1

** 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 COG7 16:23399814..23464501 region Gbrowse