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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 ACAD8:

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
ENSG00000151498	ACAD8	1	0	16	ENSG00000151498	ENST00000527082		acyl-CoA dehydrogenase family, member 8 [Source:HGNC Symbol;Acc:87]	11	134123389	134135749	1	q25	134123471	134129819	ACAD8	ACAD8-002	HGNC Symbol	HGNC transcript name	19	47.88	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	27034	87	ACAD8		27504

MSeqDR Master Exome Data Set M1: 476 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	11	134123428	G	A	ENST00000281182	ENSG00000151498	134123389	134135749	ENSP00000281182	ACAD8	1	ACAD8_HUMAN	-	-	5'_UTR	rs112372624	0.1085	-	-	-	-	-	het	108
2	11	134123428	G	A	ENST00000281182	ENSG00000151498	134123389	134135749	ENSP00000281182	ACAD8	1	ACAD8_HUMAN	-	-	5'_UTR	rs112372624	0.1085	-	-	-	-	-	hom	3
3	11	134123458	G	A	ENST00000281182	ENSG00000151498	134123389	134135749	ENSP00000281182	ACAD8	1	ACAD8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
4	11	134123458	G	A	ENST00000374752	ENSG00000151498	134123389	134135749	ENSP00000363884	ACAD8	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
5	11	134123458	G	A	ENST00000524426	ENSG00000151498	134123389	134135749	ENSP00000431310	ACAD8	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
6	11	134123458	G	A	ENST00000525961	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.1G>A	p.V1I	non-syn	NA	-	-	-	-	-	-	het	6
7	11	134123458	G	A	ENST00000526026	ENSG00000151498	134123389	134135749	ENSP00000431532	ACAD8	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
8	11	134123458	G	A	ENST00000534433	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.6G>A	p.A2A	syn	NA	-	-	-	-	-	-	het	6
9	11	134123458	G	A	ENST00000537423	ENSG00000151498	134123389	134135749	ENSP00000443763	ACAD8	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
10	11	134123458	G	A	ENST00000543332	ENSG00000151498	134123389	134135749	ENSP00000438302	ACAD8	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
11	11	134123513	C	T	ENST00000281182	ENSG00000151498	134123389	134135749	ENSP00000281182	ACAD8	1	ACAD8_HUMAN	c.19C>T	p.R7W	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
12	11	134123513	C	T	ENST00000374752	ENSG00000151498	134123389	134135749	ENSP00000363884	ACAD8	1	-	c.19C>T	p.R7W	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
13	11	134123513	C	T	ENST00000524426	ENSG00000151498	134123389	134135749	ENSP00000431310	ACAD8	1	-	c.19C>T	p.R7W	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
14	11	134123513	C	T	ENST00000524547	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.3C>T	p.A1A	syn	NA	-	-	-	DAMAGING	P	-	het	1
15	11	134123513	C	T	ENST00000525961	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.56C>T	p.P19L	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
16	11	134123513	C	T	ENST00000526026	ENSG00000151498	134123389	134135749	ENSP00000431532	ACAD8	1	-	c.19C>T	p.R7W	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
17	11	134123513	C	T	ENST00000527082	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.43C>T	p.R15W	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
18	11	134123513	C	T	ENST00000530533	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.52C>T	p.R18W	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
19	11	134123513	C	T	ENST00000533387	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.51C>T	p.A17A	syn	NA	-	-	-	DAMAGING	P	-	het	1
20	11	134123513	C	T	ENST00000534240	ENSG00000151498	134123389	134135749	-	ACAD8	1	-	c.51C>T	p.A17A	syn	NA	-	-	-	DAMAGING	P	-	het	1

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Transcripts and variants in the surrounding ACAD8 11:134123389..134135749 region Gbrowse