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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 COQ2:

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
ENSG00000173085	COQ2	1	74	36	ENSG00000173085	ENST00000503391	ENSP00000426242	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase [Source:HGNC Symbol;Acc:25223]	4	84182689	84206067	-1	q21.23	84182689	84205948	COQ2	COQ2-002	HGNC Symbol	HGNC transcript name	6	39.35	protein_coding	nonsense_mediated_decay	ensembl_hava	ensembl_hava	KNOWN	KNOWN	27235	25223	COQ2		27524

MSeqDR Master Exome Data Set M1: 112 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	4	84185015	T	A	ENST00000311469	ENSG00000173085	84182689	84206067	ENSP00000310873	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs145801680	0.01243	-	-	-	-	-	het	19
2	4	84185015	T	A	ENST00000311469	ENSG00000173085	84182689	84206067	ENSP00000310873	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs145801680	0.01243	-	-	-	-	-	hom	1
3	4	84185015	T	A	ENST00000439031	ENSG00000173085	84182689	84206067	ENSP00000409275	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs145801680	0.01243	-	-	-	-	-	het	19
4	4	84185015	T	A	ENST00000439031	ENSG00000173085	84182689	84206067	ENSP00000409275	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs145801680	0.01243	-	-	-	-	-	hom	1
5	4	84185015	T	A	ENST00000503915	ENSG00000173085	84182689	84206067	ENSP00000427146	COQ2	-1	-	-	-	3'_UTR	rs145801680	0.01243	-	-	-	-	-	het	19
6	4	84185015	T	A	ENST00000503915	ENSG00000173085	84182689	84206067	ENSP00000427146	COQ2	-1	-	-	-	3'_UTR	rs145801680	0.01243	-	-	-	-	-	hom	1
7	4	84185084	G	A	ENST00000311469	ENSG00000173085	84182689	84206067	ENSP00000310873	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs189311409	0.0014	-	-	-	-	-	het	1
8	4	84185084	G	A	ENST00000439031	ENSG00000173085	84182689	84206067	ENSP00000409275	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs189311409	0.0014	-	-	-	-	-	het	1
9	4	84185084	G	A	ENST00000503915	ENSG00000173085	84182689	84206067	ENSP00000427146	COQ2	-1	-	-	-	3'_UTR	rs189311409	0.0014	-	-	-	-	-	het	1
10	4	84185201	T	C	ENST00000311469	ENSG00000173085	84182689	84206067	ENSP00000310873	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	4	84185201	T	C	ENST00000439031	ENSG00000173085	84182689	84206067	ENSP00000409275	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	4	84185201	T	C	ENST00000503915	ENSG00000173085	84182689	84206067	ENSP00000427146	COQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	4	84185299	C	T	ENST00000311469	ENSG00000173085	84182689	84206067	ENSP00000310873	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs143771689	0.01841	-	-	-	-	-	het	18
14	4	84185299	C	T	ENST00000439031	ENSG00000173085	84182689	84206067	ENSP00000409275	COQ2	-1	COQ2_HUMAN	-	-	3'_UTR	rs143771689	0.01841	-	-	-	-	-	het	18
15	4	84185299	C	T	ENST00000503915	ENSG00000173085	84182689	84206067	ENSP00000427146	COQ2	-1	-	-	-	3'_UTR	rs143771689	0.01841	-	-	-	-	-	het	18
16	4	84185440	A	G	ENST00000311469	ENSG00000173085	84182689	84206067	ENSP00000310873	COQ2	-1	COQ2_HUMAN	c.1178T>C	p.V393A	non-syn	rs148156462	0.0099	-	-	DAMAGING	-	-	het	1
17	4	84185440	A	G	ENST00000439031	ENSG00000173085	84182689	84206067	ENSP00000409275	COQ2	-1	COQ2_HUMAN	c.1067T>C	p.V356A	non-syn	rs148156462	0.0099	-	-	DAMAGING	-	-	het	1
18	4	84185440	A	G	ENST00000503915	ENSG00000173085	84182689	84206067	ENSP00000427146	COQ2	-1	-	-	-	3'_UTR	rs148156462	0.0099	-	-	DAMAGING	-	-	het	1
19	4	84187969	C	T	ENST00000311461	ENSG00000173085	84182689	84206067	ENSP00000311835	COQ2	-1	-	-	-	3'_UTR	rs115959028	0.00275	-	-	-	-	-	het	5
20	4	84188073	A	G	ENST00000311461	ENSG00000173085	84182689	84206067	ENSP00000311835	COQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding COQ2 4:84182689..84206067 region Gbrowse