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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 ENSG00000115286:

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
ENSG00000115286	NDUFS7	1	33	18	ENSG00000115286	ENST00000546172	ENSP00000467094	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7714]	19	1383526	1395583	1	p13.3	1383917	1395427	NDUFS7	NDUFS7-018	HGNC Symbol	HGNC transcript name	17	59.57	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	374291	7714	NDUFS7		27526

MSeqDR Master Exome Data Set M1: 577 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	19	1383528	T	C	ENST00000546283	ENSG00000115286	1383526	1395583	ENSP00000440348	NDUFS7	1	-	-	-	5'_UTR	rs180738789	0.0017	-	-	-	-	-	het	1
2	19	1383550	G	C	ENST00000546283	ENSG00000115286	1383526	1395583	ENSP00000440348	NDUFS7	1	-	-	-	5'_UTR	rs117758624	0.0371	-	-	-	-	-	het	19
3	19	1383561	C	T	ENST00000546283	ENSG00000115286	1383526	1395583	ENSP00000440348	NDUFS7	1	-	-	-	5'_UTR	rs115444924	0.0211	-	lod=291:576	-	-	-	het	2
4	19	1383572	C	T	ENST00000546283	ENSG00000115286	1383526	1395583	ENSP00000440348	NDUFS7	1	-	-	-	5'_UTR	rs150413306	0.0011	-	lod=291:576	-	-	-	het	1
5	19	1383582	T	G	ENST00000546283	ENSG00000115286	1383526	1395583	ENSP00000440348	NDUFS7	1	-	-	-	5'_UTR	rs138144610	0.0045	-	lod=291:576	-	-	-	het	2
6	19	1383643	A	G	ENST00000233627	ENSG00000115286	1383526	1395583	ENSP00000233627	NDUFS7	1	NDUS7_HUMAN	-	-	5'_UTR	rs114400263	0.0374	-	-	-	-	-	het	1
7	19	1383649	G	T	ENST00000233627	ENSG00000115286	1383526	1395583	ENSP00000233627	NDUFS7	1	NDUS7_HUMAN	-	-	5'_UTR	rs3848638	0.4416	-	-	-	-	-	het	160
8	19	1383649	G	T	ENST00000233627	ENSG00000115286	1383526	1395583	ENSP00000233627	NDUFS7	1	NDUS7_HUMAN	-	-	5'_UTR	rs3848638	0.4416	-	-	-	-	-	hom	96
9	19	1383682	C	T	ENST00000233627	ENSG00000115286	1383526	1395583	ENSP00000233627	NDUFS7	1	NDUS7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
10	19	1383815	C	A	ENST00000233627	ENSG00000115286	1383526	1395583	ENSP00000233627	NDUFS7	1	NDUS7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	19	1383815	C	A	ENST00000546283	ENSG00000115286	1383526	1395583	ENSP00000440348	NDUFS7	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	19	1384021	G	C	ENST00000543289	ENSG00000115286	1383526	1395583	-	NDUFS7	1	-	c.133G>C	p.G45R	non-syn	rs113443464	-	-	-	-	-	-	hom	1
13	19	1384021	G	C	ENST00000543289	ENSG00000115286	1383526	1395583	-	NDUFS7	1	-	c.133G>C	p.G45R	non-syn	rs113443464	-	-	-	-	-	-	het	3
14	19	1387857	G	C	ENST00000233627	ENSG00000115286	1383526	1395583	ENSP00000233627	NDUFS7	1	NDUS7_HUMAN	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
15	19	1387857	G	C	ENST00000313408	ENSG00000115286	1383526	1395583	ENSP00000364262	NDUFS7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	19	1387857	G	C	ENST00000414651	ENSG00000115286	1383526	1395583	ENSP00000406630	NDUFS7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
17	19	1387857	G	C	ENST00000436115	ENSG00000115286	1383526	1395583	-	NDUFS7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
18	19	1387857	G	C	ENST00000534853	ENSG00000115286	1383526	1395583	ENSP00000442822	NDUFS7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
19	19	1387857	G	C	ENST00000538523	ENSG00000115286	1383526	1395583	-	NDUFS7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
20	19	1387857	G	C	ENST00000538662	ENSG00000115286	1383526	1395583	-	NDUFS7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	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.

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Transcripts and variants in the surrounding NDUFS7 19:1383526..1395583 region Gbrowse