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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 ENSG00000178057:

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
ENSG00000178057	NDUFAF3	1	48	10	ENSG00000178057	ENST00000326912	ENSP00000323003	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 [Source:HGNC Symbol;Acc:29918]	3	49057892	49060928	1	p21.31	49057892	49060720	NDUFAF3	NDUFAF3-003	HGNC Symbol	HGNC transcript name	6	64.14	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	25915	29918	NDUFAF3	NM_199074	27517

MSeqDR Master Exome Data Set M1: 42 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	3	49058764	G	A	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	lod=50:387	-	-	-	het	1
2	3	49058764	G	A	ENST00000395458	ENSG00000178057	49057892	49060928	ENSP00000378843	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	lod=50:387	-	-	-	het	1
3	3	49058793	G	T	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	rs72934791	0.1587	-	-	-	-	-	hom	2
4	3	49058793	G	T	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	rs72934791	0.1587	-	-	-	-	-	het	15
5	3	49058793	G	T	ENST00000395458	ENSG00000178057	49057892	49060928	ENSP00000378843	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	rs72934791	0.1587	-	-	-	-	-	hom	2
6	3	49058793	G	T	ENST00000395458	ENSG00000178057	49057892	49060928	ENSP00000378843	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	rs72934791	0.1587	-	-	-	-	-	het	15
7	3	49058887	C	G	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	3	49058908	C	T	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	3	49058908	C	T	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
10	3	49058913	T	C	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	0.0053	-	-	-	-	-	het	11
11	3	49059044	T	A	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	3	49059044	T	A	ENST00000451378	ENSG00000178057	49057892	49060928	ENSP00000402465	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	3	49059205	G	A	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	3	49059205	G	A	ENST00000451378	ENSG00000178057	49057892	49060928	ENSP00000402465	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
15	3	49059231	C	A	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
16	3	49059231	C	A	ENST00000451378	ENSG00000178057	49057892	49060928	ENSP00000402465	NDUFAF3	1	NDUF3_HUMAN	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
17	3	49059337	C	T	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	9
18	3	49059911	A	C	ENST00000326912	ENSG00000178057	49057892	49060928	ENSP00000323003	NDUFAF3	1	NDUF3_HUMAN	c.39A>C	p.I13I	syn	rs142033692	0.0087	C=0/A=8600;C=1/A=4405;C=1/A=13005	lod=46:378	-	-	-	het	4
19	3	49059911	A	C	ENST00000326925	ENSG00000178057	49057892	49060928	ENSP00000323076	NDUFAF3	1	NDUF3_HUMAN	c.210A>C	p.I70I	syn	rs142033692	0.0087	C=0/A=8600;C=1/A=4405;C=1/A=13005	lod=46:378	-	-	-	het	4
20	3	49059911	A	C	ENST00000395458	ENSG00000178057	49057892	49060928	ENSP00000378843	NDUFAF3	1	NDUF3_HUMAN	c.39A>C	p.I13I	syn	rs142033692	0.0087	C=0/A=8600;C=1/A=4405;C=1/A=13005	lod=46:378	-	-	-	het	4

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding NDUFAF3 3:49057892..49060928 region Gbrowse