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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 ENSG00000177646:

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
ENSG00000177646	ACAD9	1	102	51	ENSG00000177646	ENST00000505602		acyl-CoA dehydrogenase family, member 9 [Source:HGNC Symbol;Acc:21497]	3	128598439	128634910	1	q21.3	128598439	128603532	ACAD9	ACAD9-010	HGNC Symbol	HGNC transcript name	12	49.2	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	28976	21497	ACAD9		27517

MSeqDR Master Exome Data Set M1: 376 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	3	128598469	C	-G	ENST00000308982	ENSG00000177646	128598439	128634910	ENSP00000312618	ACAD9	1	ACAD9_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	3	128598469	C	-G	ENST00000505192	ENSG00000177646	128598439	128634910	ENSP00000426277	ACAD9	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	3	128598469	C	-G	ENST00000505602	ENSG00000177646	128598439	128634910	-	ACAD9	1	-	c.32_32del	p.R11NA	non-syn	NA	-	-	-	-	-	-	het	1
4	3	128598469	C	-G	ENST00000511227	ENSG00000177646	128598439	128634910	ENSP00000425226	ACAD9	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	3	128598469	C	-G	ENST00000512801	ENSG00000177646	128598439	128634910	ENSP00000427283	ACAD9	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	3	128598469	C	-G	ENST00000514643	ENSG00000177646	128598439	128634910	ENSP00000422020	ACAD9	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	3	128598469	C	-GT	ENST00000308982	ENSG00000177646	128598439	128634910	ENSP00000312618	ACAD9	1	ACAD9_HUMAN	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	het	361
8	3	128598469	C	-GT	ENST00000308982	ENSG00000177646	128598439	128634910	ENSP00000312618	ACAD9	1	ACAD9_HUMAN	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	hom	112
9	3	128598469	C	-GT	ENST00000505192	ENSG00000177646	128598439	128634910	ENSP00000426277	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	het	361
10	3	128598469	C	-GT	ENST00000505192	ENSG00000177646	128598439	128634910	ENSP00000426277	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	hom	112
11	3	128598469	C	-GT	ENST00000505602	ENSG00000177646	128598439	128634910	-	ACAD9	1	-	c.32_33del	p.R11NA	non-syn	rs28384401	-	-	-	-	-	-	het	361
12	3	128598469	C	-GT	ENST00000505602	ENSG00000177646	128598439	128634910	-	ACAD9	1	-	c.32_33del	p.R11NA	non-syn	rs28384401	-	-	-	-	-	-	hom	112
13	3	128598469	C	-GT	ENST00000511227	ENSG00000177646	128598439	128634910	ENSP00000425226	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	het	361
14	3	128598469	C	-GT	ENST00000511227	ENSG00000177646	128598439	128634910	ENSP00000425226	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	hom	112
15	3	128598469	C	-GT	ENST00000512801	ENSG00000177646	128598439	128634910	ENSP00000427283	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	het	361
16	3	128598469	C	-GT	ENST00000512801	ENSG00000177646	128598439	128634910	ENSP00000427283	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	hom	112
17	3	128598469	C	-GT	ENST00000514643	ENSG00000177646	128598439	128634910	ENSP00000422020	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	het	361
18	3	128598469	C	-GT	ENST00000514643	ENSG00000177646	128598439	128634910	ENSP00000422020	ACAD9	1	-	-	-	5'_UTR	rs28384401	-	-	-	-	-	-	hom	112
19	3	128598476	G	-T	ENST00000308982	ENSG00000177646	128598439	128634910	ENSP00000312618	ACAD9	1	ACAD9_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
20	3	128598476	G	-T	ENST00000505192	ENSG00000177646	128598439	128634910	ENSP00000426277	ACAD9	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding ACAD9 3:128598439..128634910 region Gbrowse