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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 ACADSB:

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
ENSG00000196177	ACADSB	1	0	5	ENSG00000196177	ENST00000368869	ENSP00000357862	acyl-CoA dehydrogenase, short/branched chain [Source:HGNC Symbol;Acc:91]	10	124768495	124817827	1	q26.13	124768495	124813635	ACADSB	ACADSB-004	HGNC Symbol	HGNC transcript name	5	40.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	36	91	ACADSB		27525

MSeqDR Master Exome Data Set M1: 144 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	10	124768583	G	A	ENST00000358776	ENSG00000196177	124768495	124817827	ENSP00000357873	ACADSB	1	ACDSB_HUMAN	c.38G>A	p.R13K	non-syn	rs12263012	0.3333	A=2125/G=3743;A=388/G=2908;A=2513/G=6651	-	TOLERATED	B	BHigher diastolic blood pressure in women, association with	het	277
2	10	124768583	G	A	ENST00000358776	ENSG00000196177	124768495	124817827	ENSP00000357873	ACADSB	1	ACDSB_HUMAN	c.38G>A	p.R13K	non-syn	rs12263012	0.3333	A=2125/G=3743;A=388/G=2908;A=2513/G=6651	-	TOLERATED	B	BHigher diastolic blood pressure in women, association with	hom	78
3	10	124768583	G	A	ENST00000368869	ENSG00000196177	124768495	124817827	ENSP00000357862	ACADSB	1	-	-	-	5'_UTR	rs12263012	0.3333	A=2125/G=3743;A=388/G=2908;A=2513/G=6651	-	TOLERATED	B	BHigher diastolic blood pressure in women, association with	het	277
4	10	124768583	G	A	ENST00000368869	ENSG00000196177	124768495	124817827	ENSP00000357862	ACADSB	1	-	-	-	5'_UTR	rs12263012	0.3333	A=2125/G=3743;A=388/G=2908;A=2513/G=6651	-	TOLERATED	B	BHigher diastolic blood pressure in women, association with	hom	78
5	10	124787052	A	G	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	c.3A>G	p.V1V	syn	rs113150998	0.02311	-	-	DAMAGING	-	-	het	20
6	10	124787052	A	G	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	c.3A>G	p.V1V	syn	rs113150998	0.02311	-	-	DAMAGING	-	-	hom	2
7	10	124787118	G	A	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	-	-	+10bp 5'_splice_site	rs10902863	0.52778	-	-	-	-	-	het	250
8	10	124787118	G	A	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	-	-	+10bp 5'_splice_site	rs10902863	0.52778	-	-	-	-	-	hom	202
9	10	124793921	A	G	ENST00000358776	ENSG00000196177	124768495	124817827	ENSP00000357873	ACADSB	1	ACDSB_HUMAN	c.92A>G	p.H31R	non-syn	rs57321698	0.0231	G=0/A=8600;G=1/A=4405;G=1/A=13005	-	TOLERATED	B	-	het	3
10	10	124793921	A	G	ENST00000368869	ENSG00000196177	124768495	124817827	ENSP00000357862	ACADSB	1	-	-	-	5'_UTR	rs57321698	0.0231	G=0/A=8600;G=1/A=4405;G=1/A=13005	-	TOLERATED	B	-	het	3
11	10	124793921	A	G	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	c.109A>G	p.M37V	non-syn	rs57321698	0.0231	G=0/A=8600;G=1/A=4405;G=1/A=13005	-	TOLERATED	B	-	het	3
12	10	124793921	A	G	ENST00000496730	ENSG00000196177	124768495	124817827	-	ACADSB	1	-	c.51A>G	p.S17S	syn	rs57321698	0.0231	G=0/A=8600;G=1/A=4405;G=1/A=13005	-	TOLERATED	B	-	het	3
13	10	124793997	A	G	ENST00000358776	ENSG00000196177	124768495	124817827	ENSP00000357873	ACADSB	1	ACDSB_HUMAN	c.168A>G	p.T56T	syn	rs34221067	0.0306	G=7/A=8593;G=232/A=4174;G=239/A=12767	lod=125:485	-	-	-	het	7
14	10	124793997	A	G	ENST00000368869	ENSG00000196177	124768495	124817827	ENSP00000357862	ACADSB	1	-	-	-	5'_UTR	rs34221067	0.0306	G=7/A=8593;G=232/A=4174;G=239/A=12767	lod=125:485	-	-	-	het	7
15	10	124793997	A	G	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	c.185A>G	p.H62R	non-syn	rs34221067	0.0306	G=7/A=8593;G=232/A=4174;G=239/A=12767	lod=125:485	-	-	-	het	7
16	10	124793997	A	G	ENST00000496730	ENSG00000196177	124768495	124817827	-	ACADSB	1	-	c.127A>G	p.I43V	non-syn	rs34221067	0.0306	G=7/A=8593;G=232/A=4174;G=239/A=12767	lod=125:485	-	-	-	het	7
17	10	124800121	C	T	ENST00000358776	ENSG00000196177	124768495	124817827	ENSP00000357873	ACADSB	1	ACDSB_HUMAN	c.443C>T	p.T148I	non-syn	rs58639322	0.00094	T=8/C=8592;T=1/C=4405;T=9/C=12997	-	DAMAGING	P	B2-Methylbutyryl-CoA dehydrogenase deficiency	het	1
18	10	124800121	C	T	ENST00000368869	ENSG00000196177	124768495	124817827	ENSP00000357862	ACADSB	1	-	c.137C>T	p.T46I	non-syn	rs58639322	0.00094	T=8/C=8592;T=1/C=4405;T=9/C=12997	-	DAMAGING	P	B2-Methylbutyryl-CoA dehydrogenase deficiency	het	1
19	10	124800121	C	T	ENST00000411816	ENSG00000196177	124768495	124817827	ENSP00000407744	ACADSB	1	-	c.460C>T	p.H154Y	non-syn	rs58639322	0.00094	T=8/C=8592;T=1/C=4405;T=9/C=12997	-	DAMAGING	P	B2-Methylbutyryl-CoA dehydrogenase deficiency	het	1
20	10	124800121	C	T	ENST00000496730	ENSG00000196177	124768495	124817827	-	ACADSB	1	-	c.402C>T	p.H134H	syn	rs58639322	0.00094	T=8/C=8592;T=1/C=4405;T=9/C=12997	-	DAMAGING	P	B2-Methylbutyryl-CoA dehydrogenase deficiency	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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Transcripts and variants in the surrounding ACADSB 10:124768495..124817827 region Gbrowse