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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 ENSG00000131174:

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
ENSG00000131174	COX7B	1	0	3	ENSG00000131174	ENST00000373335		cytochrome c oxidase subunit VIIb [Source:HGNC Symbol;Acc:2291]	X	77154935	77162870	1	q21.1	77154935	77160772	COX7B	COX7B-002	HGNC Symbol	HGNC transcript name	3	40.81	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	1349	2291	COX7B		27516

MSeqDR Master Exome Data Set M1: 18 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	X	77155004	C	G	ENST00000373335	ENSG00000131174	77154935	77162870	-	COX7B	1	-	c.70C>G	p.H24D	non-syn	NA	-	G=3/C=6720;G=0/C=3835;G=3/C=10555	-	-	-	-	het	1
2	X	77155004	C	G	ENST00000475465	ENSG00000131174	77154935	77162870	-	COX7B	1	-	c.45C>G	p.G15G	syn	NA	-	G=3/C=6720;G=0/C=3835;G=3/C=10555	-	-	-	-	het	1
3	X	77155004	C	G	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	5'_UTR	NA	-	G=3/C=6720;G=0/C=3835;G=3/C=10555	-	-	-	-	het	1
4	X	77158300	G	A	ENST00000475465	ENSG00000131174	77154935	77162870	-	COX7B	1	-	c.292G>A	p.V98I	non-syn	rs143653330	0.0056	A=40/G=6688;A=2/G=3833;A=42/G=10521	-	-	-	-	het	2
5	X	77158300	G	A	ENST00000475465	ENSG00000131174	77154935	77162870	-	COX7B	1	-	c.292G>A	p.V98I	non-syn	rs143653330	0.0056	A=40/G=6688;A=2/G=3833;A=42/G=10521	-	-	-	-	hom	1
6	X	77160840	G	T	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	rs41304464	0.00682	-	-	-	-	-	het	2
7	X	77160978	G	-TTT	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
8	X	77161275	A	G	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	rs5912528	1	-	-	-	-	-	hom	1
9	X	77161524	C	T	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	X	77161524	C	T	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
11	X	77161566	G	A	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
12	X	77162312	A	C	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	X	77162468	G	-TTGTT	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
14	X	77162488	G	+T	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
15	X	77162571	A	T	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	rs192192967	0.0073	-	-	-	-	-	het	1
16	X	77162806	A	G	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	X	77162806	A	G	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
18	X	77162817	C	T	ENST00000481445	ENSG00000131174	77154935	77162870	ENSP00000417656	COX7B	1	COX7B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding COX7B X:77154935..77162870 region Gbrowse