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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 ENSG00000164258:

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
ENSG00000164258	NDUFS4	1	43	18	ENSG00000164258	ENST00000507026	ENSP00000424993	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7711]	5	52856463	52979168	1	q11.2	52856463	52979049	NDUFS4	NDUFS4-003	HGNC Symbol	HGNC transcript name	6	36.57	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	4724	7711	NDUFS4		27527

MSeqDR Master Exome Data Set M1: 87 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	5	52856487	A	T	ENST00000296684	ENSG00000164258	52856463	52979168	ENSP00000296684	NDUFS4	1	NDUS4_HUMAN	-	-	5'_UTR	rs73754255	0.0136	T=0/A=8600;T=113/A=4293;T=113/A=12893	lod=122:483	-	-	-	het	1
2	5	52856487	A	T	ENST00000502423	ENSG00000164258	52856463	52979168	ENSP00000422177	NDUFS4	1	-	-	-	5'_UTR	rs73754255	0.0136	T=0/A=8600;T=113/A=4293;T=113/A=12893	lod=122:483	-	-	-	het	1
3	5	52856487	A	T	ENST00000506974	ENSG00000164258	52856463	52979168	ENSP00000425967	NDUFS4	1	-	-	-	5'_UTR	rs73754255	0.0136	T=0/A=8600;T=113/A=4293;T=113/A=12893	lod=122:483	-	-	-	het	1
4	5	52856487	A	T	ENST00000507026	ENSG00000164258	52856463	52979168	ENSP00000424993	NDUFS4	1	-	-	-	5'_UTR	rs73754255	0.0136	T=0/A=8600;T=113/A=4293;T=113/A=12893	lod=122:483	-	-	-	het	1
5	5	52856504	G	C	ENST00000296684	ENSG00000164258	52856463	52979168	ENSP00000296684	NDUFS4	1	NDUS4_HUMAN	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	het	542
6	5	52856504	G	C	ENST00000296684	ENSG00000164258	52856463	52979168	ENSP00000296684	NDUFS4	1	NDUS4_HUMAN	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	hom	357
7	5	52856504	G	C	ENST00000502423	ENSG00000164258	52856463	52979168	ENSP00000422177	NDUFS4	1	-	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	het	542
8	5	52856504	G	C	ENST00000502423	ENSG00000164258	52856463	52979168	ENSP00000422177	NDUFS4	1	-	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	hom	357
9	5	52856504	G	C	ENST00000506974	ENSG00000164258	52856463	52979168	ENSP00000425967	NDUFS4	1	-	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	het	542
10	5	52856504	G	C	ENST00000506974	ENSG00000164258	52856463	52979168	ENSP00000425967	NDUFS4	1	-	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	hom	357
11	5	52856504	G	C	ENST00000507026	ENSG00000164258	52856463	52979168	ENSP00000424993	NDUFS4	1	-	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	het	542
12	5	52856504	G	C	ENST00000507026	ENSG00000164258	52856463	52979168	ENSP00000424993	NDUFS4	1	-	c.12G>C	p.V4V	syn	rs2279516	0.6079	C=5080/G=3520;C=3524/G=882;C=8604/G=4402	lod=122:483	-	-	-	hom	357
13	5	52869553	C	T	ENST00000507026	ENSG00000164258	52856463	52979168	ENSP00000424993	NDUFS4	1	-	-	-	3'_UTR	rs72750147	0.1692	-	-	-	-	-	het	64
14	5	52869553	C	T	ENST00000507026	ENSG00000164258	52856463	52979168	ENSP00000424993	NDUFS4	1	-	-	-	3'_UTR	rs72750147	0.1692	-	-	-	-	-	hom	9
15	5	52899285	G	A	ENST00000296684	ENSG00000164258	52856463	52979168	ENSP00000296684	NDUFS4	1	NDUS4_HUMAN	c.102G>A	p.S34S	syn	rs138941073	0.0028	A=1/G=8599;A=26/G=4380;A=27/G=12979	-	-	-	-	het	3
16	5	52899285	G	A	ENST00000502423	ENSG00000164258	52856463	52979168	ENSP00000422177	NDUFS4	1	-	c.102G>A	p.S34S	syn	rs138941073	0.0028	A=1/G=8599;A=26/G=4380;A=27/G=12979	-	-	-	-	het	3
17	5	52899285	G	A	ENST00000506765	ENSG00000164258	52856463	52979168	ENSP00000424570	NDUFS4	1	-	c.90G>A	p.S30S	syn	rs138941073	0.0028	A=1/G=8599;A=26/G=4380;A=27/G=12979	-	-	-	-	het	3
18	5	52899285	G	A	ENST00000506974	ENSG00000164258	52856463	52979168	ENSP00000425967	NDUFS4	1	-	c.102G>A	p.S34S	syn	rs138941073	0.0028	A=1/G=8599;A=26/G=4380;A=27/G=12979	-	-	-	-	het	3
19	5	52899285	G	A	ENST00000507026	ENSG00000164258	52856463	52979168	ENSP00000424993	NDUFS4	1	-	-	-	3'_UTR	rs138941073	0.0028	A=1/G=8599;A=26/G=4380;A=27/G=12979	-	-	-	-	het	3
20	5	52942083	A	C	ENST00000296684	ENSG00000164258	52856463	52979168	ENSP00000296684	NDUFS4	1	NDUS4_HUMAN	c.198A>C	p.G66G	syn	rs31304	0.95238	C=8303/A=297;C=4297/A=109;C=12600/A=406	lod=348:595	-	-	-	het	81

** 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 NDUFS4 5:52856463..52979168 region Gbrowse