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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 NDUFA12:

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
ENSG00000184752	NDUFA12	1	13	3	ENSG00000184752	ENST00000552205	ENSP00000449144	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 [Source:HGNC Symbol;Acc:23987]	12	95290831	95397546	-1	q22	95290831	95397436	NDUFA12	NDUFA12-004	HGNC Symbol	HGNC transcript name	9	43.14	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	55967	23987	NDUFA12		27519

MSeqDR Master Exome Data Set M1: 41 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	12	95321792	C	T	ENST00000552205	ENSG00000184752	95290831	95397546	ENSP00000449144	NDUFA12	-1	-	-	-	+1bp 5'_splice_site	rs73368737	0.09511	-	-	-	-	-	het	24
2	12	95321792	C	T	ENST00000552205	ENSG00000184752	95290831	95397546	ENSP00000449144	NDUFA12	-1	-	-	-	+1bp 5'_splice_site	rs73368737	0.09511	-	-	-	-	-	hom	3
3	12	95365150	A	G	ENST00000327772	ENSG00000184752	95290831	95397546	ENSP00000330737	NDUFA12	-1	NDUAC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	12	95365150	A	G	ENST00000538372	ENSG00000184752	95290831	95397546	-	NDUFA12	-1	-	c.431T>C	p.F144S	non-syn	NA	-	-	-	-	-	-	het	1
5	12	95365150	A	G	ENST00000547157	ENSG00000184752	95290831	95397546	ENSP00000448846	NDUFA12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	12	95365150	A	G	ENST00000547986	ENSG00000184752	95290831	95397546	ENSP00000450130	NDUFA12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	12	95365150	A	G	ENST00000550187	ENSG00000184752	95290831	95397546	-	NDUFA12	-1	-	c.475T>C	p.L159L	syn	NA	-	-	-	-	-	-	het	1
8	12	95365150	A	G	ENST00000551991	ENSG00000184752	95290831	95397546	ENSP00000450096	NDUFA12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	12	95365253	A	-TCT	ENST00000327772	ENSG00000184752	95290831	95397546	ENSP00000330737	NDUFA12	-1	NDUAC_HUMAN	c.398_400del	p.I134NA	non-syn	NA	-	-	lod=286:574	-	-	-	het	5
10	12	95365253	A	-TCT	ENST00000538372	ENSG00000184752	95290831	95397546	-	NDUFA12	-1	-	c.325_327del	p.R109NA	non-syn	NA	-	-	lod=286:574	-	-	-	het	5
11	12	95365253	A	-TCT	ENST00000547157	ENSG00000184752	95290831	95397546	ENSP00000448846	NDUFA12	-1	-	c.108_110del	p.D37NA	non-syn	NA	-	-	lod=286:574	-	-	-	het	5
12	12	95365253	A	-TCT	ENST00000547986	ENSG00000184752	95290831	95397546	ENSP00000450130	NDUFA12	-1	-	-	-	3'_UTR	NA	-	-	lod=286:574	-	-	-	het	5
13	12	95365253	A	-TCT	ENST00000550187	ENSG00000184752	95290831	95397546	-	NDUFA12	-1	-	c.369_371del	p.D124NA	non-syn	NA	-	-	lod=286:574	-	-	-	het	5
14	12	95365253	A	-TCT	ENST00000551991	ENSG00000184752	95290831	95397546	ENSP00000450096	NDUFA12	-1	-	-	-	3'_UTR	NA	-	-	lod=286:574	-	-	-	het	5
15	12	95365321	C	T	ENST00000327772	ENSG00000184752	95290831	95397546	ENSP00000330737	NDUFA12	-1	NDUAC_HUMAN	c.333G>A	p.T111T	syn	rs140708407	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=141:498	-	-	-	het	1
16	12	95365321	C	T	ENST00000538372	ENSG00000184752	95290831	95397546	-	NDUFA12	-1	-	c.260G>A	p.R87Q	non-syn	rs140708407	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=141:498	-	-	-	het	1
17	12	95365321	C	T	ENST00000546788	ENSG00000184752	95290831	95397546	ENSP00000448545	NDUFA12	-1	-	-	-	3'_UTR	rs140708407	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=141:498	-	-	-	het	1
18	12	95365321	C	T	ENST00000547986	ENSG00000184752	95290831	95397546	ENSP00000450130	NDUFA12	-1	-	-	-	3'_UTR	rs140708407	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=141:498	-	-	-	het	1
19	12	95365321	C	T	ENST00000550187	ENSG00000184752	95290831	95397546	-	NDUFA12	-1	-	c.304G>A	p.E102K	non-syn	rs140708407	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=141:498	-	-	-	het	1
20	12	95365321	C	T	ENST00000551991	ENSG00000184752	95290831	95397546	ENSP00000450096	NDUFA12	-1	-	-	-	3'_UTR	rs140708407	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=141:498	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding NDUFA12 12:95290831..95397546 region Gbrowse