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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 ENSG00000105379:

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
ENSG00000105379	ETFB	1	46	23	ENSG00000105379	ENST00000354232	ENSP00000346173	electron-transfer-flavoprotein, beta polypeptide [Source:HGNC Symbol;Acc:3482]	19	51848423	51869672	-1	q13.41	51848423	51860360	ETFB	ETFB-002	HGNC Symbol	HGNC transcript name	5	51.5	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2109	3482	ETFB	NM_001014763	27526

MSeqDR Master Exome Data Set M1: 70 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	19	51848524	C	T	ENST00000309244	ENSG00000105379	51848423	51869672	ENSP00000311930	ETFB	-1	ETFB_HUMAN	c.709G>A	p.V237I	non-syn	rs149129214	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=90:450	TOLERATED	B	-	het	3
2	19	51848524	C	T	ENST00000354232	ENSG00000105379	51848423	51869672	ENSP00000346173	ETFB	-1	ETFB_HUMAN	c.982G>A	p.V328I	non-syn	rs149129214	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=90:450	TOLERATED	B	-	het	3
3	19	51849707	T	+C	ENST00000594361	ENSG00000105379	51848423	51869672	-	ETFB	-1	-	c.2077_2078insG	p.D693NA	non-syn	rs78970555	-	-	-	-	-	-	het	1
4	19	51850121	C	T	ENST00000594361	ENSG00000105379	51848423	51869672	-	ETFB	-1	-	c.1664G>A	p.W555*	non-syn	rs10422912	0.0925	T=6/C=8072;T=454/C=3680;T=460/C=11752	-	-	-	-	het	4
5	19	51850174	C	T	ENST00000309244	ENSG00000105379	51848423	51869672	ENSP00000311930	ETFB	-1	ETFB_HUMAN	c.577G>A	p.A193T	non-syn	rs200186078	-	T=2/C=8562;T=0/C=4374;T=2/C=12936	lod=259:563	DAMAGING	P	-	het	1
6	19	51850174	C	T	ENST00000354232	ENSG00000105379	51848423	51869672	ENSP00000346173	ETFB	-1	ETFB_HUMAN	c.850G>A	p.A284T	non-syn	rs200186078	-	T=2/C=8562;T=0/C=4374;T=2/C=12936	lod=259:563	DAMAGING	P	-	het	1
7	19	51850174	C	T	ENST00000594361	ENSG00000105379	51848423	51869672	-	ETFB	-1	-	c.1611G>A	p.T537T	syn	rs200186078	-	T=2/C=8562;T=0/C=4374;T=2/C=12936	lod=259:563	DAMAGING	P	-	het	1
8	19	51850174	C	T	ENST00000596253	ENSG00000105379	51848423	51869672	ENSP00000469628	ETFB	-1	-	c.418G>A	p.A140T	non-syn	rs200186078	-	T=2/C=8562;T=0/C=4374;T=2/C=12936	lod=259:563	DAMAGING	P	-	het	1
9	19	51850290	G	A	ENST00000309244	ENSG00000105379	51848423	51869672	ENSP00000311930	ETFB	-1	ETFB_HUMAN	c.461C>T	p.T154M	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	het	491
10	19	51850290	G	A	ENST00000309244	ENSG00000105379	51848423	51869672	ENSP00000311930	ETFB	-1	ETFB_HUMAN	c.461C>T	p.T154M	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	hom	280
11	19	51850290	G	A	ENST00000354232	ENSG00000105379	51848423	51869672	ENSP00000346173	ETFB	-1	ETFB_HUMAN	c.734C>T	p.T245M	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	het	491
12	19	51850290	G	A	ENST00000354232	ENSG00000105379	51848423	51869672	ENSP00000346173	ETFB	-1	ETFB_HUMAN	c.734C>T	p.T245M	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	hom	280
13	19	51850290	G	A	ENST00000594361	ENSG00000105379	51848423	51869672	-	ETFB	-1	-	c.1495C>T	p.R499C	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	het	491
14	19	51850290	G	A	ENST00000594361	ENSG00000105379	51848423	51869672	-	ETFB	-1	-	c.1495C>T	p.R499C	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	hom	280
15	19	51850290	G	A	ENST00000596253	ENSG00000105379	51848423	51869672	ENSP00000469628	ETFB	-1	-	c.302C>T	p.T101M	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	het	491
16	19	51850290	G	A	ENST00000596253	ENSG00000105379	51848423	51869672	ENSP00000469628	ETFB	-1	-	c.302C>T	p.T101M	non-syn	rs1130426	0.52783	A=4805/G=3795;A=2242/G=2164;A=7047/G=5959	lod=120:481	DAMAGING	P	BGlutaricacidaemia 2b ?	hom	280
17	19	51850304	G	A	ENST00000309244	ENSG00000105379	51848423	51869672	ENSP00000311930	ETFB	-1	ETFB_HUMAN	c.447C>T	p.F149F	syn	rs144640661	0.0334	A=2/G=8598;A=8/G=4398;A=10/G=12996	lod=120:481	-	-	-	het	6
18	19	51850304	G	A	ENST00000354232	ENSG00000105379	51848423	51869672	ENSP00000346173	ETFB	-1	ETFB_HUMAN	c.720C>T	p.F240F	syn	rs144640661	0.0334	A=2/G=8598;A=8/G=4398;A=10/G=12996	lod=120:481	-	-	-	het	6
19	19	51850304	G	A	ENST00000594361	ENSG00000105379	51848423	51869672	-	ETFB	-1	-	c.1481C>T	p.S494L	non-syn	rs144640661	0.0334	A=2/G=8598;A=8/G=4398;A=10/G=12996	lod=120:481	-	-	-	het	6
20	19	51850304	G	A	ENST00000596253	ENSG00000105379	51848423	51869672	ENSP00000469628	ETFB	-1	-	c.288C>T	p.F96F	syn	rs144640661	0.0334	A=2/G=8598;A=8/G=4398;A=10/G=12996	lod=120:481	-	-	-	het	6

** 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 ETFB 19:51848423..51869672 region Gbrowse