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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 ACADL:

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
ENSG00000115361	ACADL	1	24	1	ENSG00000115361	ENST00000233710	ENSP00000233710	acyl-CoA dehydrogenase, long chain [Source:HGNC Symbol;Acc:88]	2	211052663	211090215	-1	q34	211052663	211090215	ACADL	ACADL-001	HGNC Symbol	HGNC transcript name	4	36.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	33	88	ACADL	NM_001608	27508

MSeqDR Master Exome Data Set M1: 43 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	2	211052757	T	C	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	rs75520497	0.01628	-	-	-	-	-	het	39
2	2	211052757	T	C	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	rs75520497	0.01628	-	-	-	-	-	hom	3
3	2	211052961	A	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	rs149291223	0.01832	-	-	-	-	-	het	53
4	2	211052961	A	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	rs149291223	0.01832	-	-	-	-	-	hom	2
5	2	211053155	A	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	rs191601306	0.00091	-	-	-	-	-	het	3
6	2	211053264	G	T	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	2	211053348	A	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	2	211053605	C	T	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	2	211057523	C	T	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	-	-	+5bp 5'_splice_site	NA	-	-	lod=79:436	-	-	-	het	4
10	2	211057536	T	C	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.1191A>G	p.P397P	syn	NA	-	-	lod=224:548	-	-	-	het	2
11	2	211060013	C	T	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.1034G>A	p.R345Q	non-syn	NA	-	-	lod=228:549	TOLERATED	D	-	het	3
12	2	211060050	T	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.997A>C	p.K333Q	non-syn	rs2286963	0.28026	G=2936/T=5664;G=661/T=3745;G=3597/T=9409	lod=171:519	TOLERATED	D	HGMD	het	419
13	2	211060050	T	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.997A>C	p.K333Q	non-syn	rs2286963	0.28026	G=2936/T=5664;G=661/T=3745;G=3597/T=9409	lod=171:519	TOLERATED	D	HGMD	hom	111
14	2	211068100	A	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.939T>C	p.Y313Y	syn	rs148069105	-	G=12/A=8586;G=1/A=4405;G=13/A=12991	lod=391:607	-	-	-	het	1
15	2	211069376	G	A	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.799C>T	p.R267W	non-syn	rs200297060	-	A=4/G=8596;A=0/G=4406;A=4/G=13002	lod=231:551	DAMAGING	D	-	het	2
16	2	211070402	C	G	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.722G>C	p.G241A	non-syn	rs146511220	0.00184	G=5/C=8595;G=0/C=4406;G=5/C=13001	lod=482:629	DAMAGING	D	-	het	15
17	2	211070445	C	T	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.679G>A	p.A227T	non-syn	NA	-	-	lod=482:629	DAMAGING	D	-	het	1
18	2	211070470	G	A	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.654C>T	p.V218V	syn	rs77160779	0.0402	A=4/G=8596;A=135/G=4271;A=139/G=12867	lod=101:462	-	-	-	het	12
19	2	211070470	G	A	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.654C>T	p.V218V	syn	rs77160779	0.0402	A=4/G=8596;A=135/G=4271;A=139/G=12867	lod=101:462	-	-	-	hom	2
20	2	211070497	T	-A	ENST00000233710	ENSG00000115361	211052663	211090215	ENSP00000233710	ACADL	-1	ACADL_HUMAN	c.626_626del	p.L209NA	non-syn	NA	-	-	lod=101:462	-	-	-	het	2

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ACADL 2:211052663..211090215 region Gbrowse