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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 ENSG00000137806:

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
ENSG00000137806	NDUFAF1	1	47	23	ENSG00000137806	ENST00000260361	ENSP00000260361	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 [Source:HGNC Symbol;Acc:18828]	15	41679551	41694717	-1	q15.1	41679551	41694642	NDUFAF1	NDUFAF1-001	HGNC Symbol	HGNC transcript name	4	46.09	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51103	18828	NDUFAF1	NM_016013	27521

MSeqDR Master Exome Data Set M1: 67 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	15	41679685	G	C	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.941C>G	p.A314G	non-syn	rs12900702	0.15429	C=1634/G=6966;C=163/G=4243;C=1797/G=11209	lod=207:539	DAMAGING	D	-	hom	35
2	15	41679685	G	C	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.941C>G	p.A314G	non-syn	rs12900702	0.15429	C=1634/G=6966;C=163/G=4243;C=1797/G=11209	lod=207:539	DAMAGING	D	-	het	283
3	15	41679701	G	C	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.925C>G	p.H309D	non-syn	rs199599633	-	C=3/G=8597;C=0/G=4406;C=3/G=13003	lod=207:539	DAMAGING	D	-	het	1
4	15	41679701	G	C	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	-	-	3'_UTR	rs199599633	-	C=3/G=8597;C=0/G=4406;C=3/G=13003	lod=207:539	DAMAGING	D	-	het	1
5	15	41679717	C	T	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.909G>A	p.V303V	syn	rs73407109	0.1107	T=415/C=8185;T=702/C=3704;T=1117/C=11889	-	-	-	-	het	102
6	15	41679717	C	T	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.909G>A	p.V303V	syn	rs73407109	0.1107	T=415/C=8185;T=702/C=3704;T=1117/C=11889	-	-	-	-	hom	3
7	15	41679717	C	T	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	-	-	3'_UTR	rs73407109	0.1107	T=415/C=8185;T=702/C=3704;T=1117/C=11889	-	-	-	-	het	102
8	15	41679717	C	T	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	-	-	3'_UTR	rs73407109	0.1107	T=415/C=8185;T=702/C=3704;T=1117/C=11889	-	-	-	-	hom	3
9	15	41679750	A	C	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.876T>G	p.G292G	syn	NA	-	-	lod=202:536	-	-	-	het	1
10	15	41679750	A	C	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	-	-	3'_UTR	NA	-	-	lod=202:536	-	-	-	het	1
11	15	41680739	T	A	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	-	-	-19bp 3'_splice_site	rs139383475	0.00274	A=20/T=8580;A=4/T=4402;A=24/T=12982	-	-	-	-	het	5
12	15	41680739	T	A	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	-	-	-19bp 3'_splice_site	rs139383475	0.00274	A=20/T=8580;A=4/T=4402;A=24/T=12982	-	-	-	-	het	5
13	15	41686417	C	T	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	-	-	3'_UTR	rs112076861	0.00996	-	-	-	-	-	het	7
14	15	41687108	C	T	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.708G>A	p.M236I	non-syn	rs150539399	0.00092	T=23/C=8577;T=2/C=4404;T=25/C=12981	lod=205:538	TOLERATED	P	-	het	4
15	15	41687108	C	T	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	c.708G>A	p.M236I	non-syn	rs150539399	0.00092	T=23/C=8577;T=2/C=4404;T=25/C=12981	lod=205:538	TOLERATED	P	-	het	4
16	15	41687120	C	T	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.696G>A	p.R232R	syn	NA	-	-	-	-	-	-	het	2
17	15	41687120	C	T	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	c.696G>A	p.R232R	syn	NA	-	-	-	-	-	-	het	2
18	15	41687178	C	T	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.638G>A	p.R213H	non-syn	rs144437724	-	T=3/C=8597;T=1/C=4405;T=4/C=13002	lod=137:495	DAMAGING	D	-	het	1
19	15	41687178	C	T	ENST00000559127	ENSG00000137806	41679551	41694717	ENSP00000453027	NDUFAF1	-1	-	c.638G>A	p.R213H	non-syn	rs144437724	-	T=3/C=8597;T=1/C=4405;T=4/C=13002	lod=137:495	DAMAGING	D	-	het	1
20	15	41688722	C	T	ENST00000260361	ENSG00000137806	41679551	41694717	ENSP00000260361	NDUFAF1	-1	CIA30_HUMAN	c.536G>A	p.R179Q	non-syn	NA	-	-	-	TOLERATED	B	-	het	2

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Transcripts and variants in the surrounding NDUFAF1 15:41679551..41694717 region Gbrowse