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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 ETFDH:

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
ENSG00000171503	ETFDH	1	298	49	ENSG00000171503	ENST00000512251	ENSP00000425661	electron-transferring-flavoprotein dehydrogenase [Source:HGNC Symbol;Acc:3483]	4	159593277	159630775	1	q32.1	159593277	159601759	ETFDH	ETFDH-008	HGNC Symbol	HGNC transcript name	8	38.19	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	2110	3483	ETFDH		27524

MSeqDR Master Exome Data Set M1: 103 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	4	159593548	C	T	ENST00000307738	ENSG00000171503	159593277	159630775	ENSP00000303552	ETFDH	1	-	-	-	5'_UTR	NA	-	T=0/C=3182;T=3/C=1381;T=3/C=4563	-	-	-	-	het	2
2	4	159593548	C	T	ENST00000436096	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.81C>T	p.P27P	syn	NA	-	T=0/C=3182;T=3/C=1381;T=3/C=4563	-	-	-	-	het	2
3	4	159593548	C	T	ENST00000507475	ENSG00000171503	159593277	159630775	ENSP00000422735	ETFDH	1	-	-	-	5'_UTR	NA	-	T=0/C=3182;T=3/C=1381;T=3/C=4563	-	-	-	-	het	2
4	4	159593548	C	T	ENST00000510353	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.81C>T	p.P27P	syn	NA	-	T=0/C=3182;T=3/C=1381;T=3/C=4563	-	-	-	-	het	2
5	4	159593548	C	T	ENST00000511912	ENSG00000171503	159593277	159630775	ENSP00000426638	ETFDH	1	ETFD_HUMAN	-	-	5'_UTR	NA	-	T=0/C=3182;T=3/C=1381;T=3/C=4563	-	-	-	-	het	2
6	4	159593548	C	T	ENST00000512251	ENSG00000171503	159593277	159630775	ENSP00000425661	ETFDH	1	-	-	-	5'_UTR	NA	-	T=0/C=3182;T=3/C=1381;T=3/C=4563	-	-	-	-	het	2
7	4	159593632	G	C	ENST00000307738	ENSG00000171503	159593277	159630775	ENSP00000303552	ETFDH	1	-	c.24G>C	p.L8L	syn	NA	-	-	lod=49:385	-	-	-	het	1
8	4	159593632	G	C	ENST00000436096	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.165G>C	p.L55L	syn	NA	-	-	lod=49:385	-	-	-	het	1
9	4	159593632	G	C	ENST00000506422	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.76G>C	p.V26L	non-syn	NA	-	-	lod=49:385	-	-	-	het	1
10	4	159593632	G	C	ENST00000507475	ENSG00000171503	159593277	159630775	ENSP00000422735	ETFDH	1	-	-	-	5'_UTR	NA	-	-	lod=49:385	-	-	-	het	1
11	4	159593632	G	C	ENST00000510353	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.165G>C	p.L55L	syn	NA	-	-	lod=49:385	-	-	-	het	1
12	4	159593632	G	C	ENST00000511912	ENSG00000171503	159593277	159630775	ENSP00000426638	ETFDH	1	ETFD_HUMAN	c.24G>C	p.L8L	syn	NA	-	-	lod=49:385	-	-	-	het	1
13	4	159593632	G	C	ENST00000512251	ENSG00000171503	159593277	159630775	ENSP00000425661	ETFDH	1	-	c.24G>C	p.L8L	syn	NA	-	-	lod=49:385	-	-	-	het	1
14	4	159601676	C	T	ENST00000436096	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.233C>T	p.T78I	non-syn	rs11559290	0.82342	T=7394/C=1204;T=1144/C=3262;T=8538/C=4466	lod=61:409	TOLERATED	B	-	het	269
15	4	159601676	C	T	ENST00000436096	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.233C>T	p.T78I	non-syn	rs11559290	0.82342	T=7394/C=1204;T=1144/C=3262;T=8538/C=4466	lod=61:409	TOLERATED	B	-	hom	791
16	4	159601676	C	T	ENST00000511912	ENSG00000171503	159593277	159630775	ENSP00000426638	ETFDH	1	ETFD_HUMAN	c.92C>T	p.T31I	non-syn	rs11559290	0.82342	T=7394/C=1204;T=1144/C=3262;T=8538/C=4466	lod=61:409	TOLERATED	B	-	het	269
17	4	159601676	C	T	ENST00000511912	ENSG00000171503	159593277	159630775	ENSP00000426638	ETFDH	1	ETFD_HUMAN	c.92C>T	p.T31I	non-syn	rs11559290	0.82342	T=7394/C=1204;T=1144/C=3262;T=8538/C=4466	lod=61:409	TOLERATED	B	-	hom	791
18	4	159601676	C	T	ENST00000512251	ENSG00000171503	159593277	159630775	ENSP00000425661	ETFDH	1	-	-	-	-4bp 3'_splice_site	rs11559290	0.82342	T=7394/C=1204;T=1144/C=3262;T=8538/C=4466	lod=61:409	TOLERATED	B	-	het	269
19	4	159601676	C	T	ENST00000512251	ENSG00000171503	159593277	159630775	ENSP00000425661	ETFDH	1	-	-	-	-4bp 3'_splice_site	rs11559290	0.82342	T=7394/C=1204;T=1144/C=3262;T=8538/C=4466	lod=61:409	TOLERATED	B	-	hom	791
20	4	159603110	A	G	ENST00000514148	ENSG00000171503	159593277	159630775	-	ETFDH	1	-	c.17A>G	p.6	syn	rs62351198	0.02985	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding ETFDH 4:159593277..159630775 region Gbrowse