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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 ACSF3:

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
ENSG00000176715	ACSF3	1	0	32	ENSG00000176715	ENST00000542688	ENSP00000446281	acyl-CoA synthetase family member 3 [Source:HGNC Symbol;Acc:27288]	16	89154783	89222254	1	q24.3	89165119	89220948	ACSF3	ACSF3-006	HGNC Symbol	HGNC transcript name	17	54.76	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	197322	27288	ACSF3		27514

MSeqDR Master Exome Data Set M1: 568 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	16	89160283	C	G	ENST00000317447	ENSG00000176715	89154783	89222254	ENSP00000320646	ACSF3	1	ACSF3_HUMAN	-	-	5'_UTR	NA	0.0172	-	-	-	-	-	het	1
2	16	89160283	C	G	ENST00000537290	ENSG00000176715	89154783	89222254	ENSP00000440734	ACSF3	1	-	-	-	5'_UTR	NA	0.0172	-	-	-	-	-	het	1
3	16	89160283	C	G	ENST00000540697	ENSG00000176715	89154783	89222254	ENSP00000445397	ACSF3	1	-	-	-	5'_UTR	NA	0.0172	-	-	-	-	-	het	1
4	16	89160329	C	G	ENST00000317447	ENSG00000176715	89154783	89222254	ENSP00000320646	ACSF3	1	ACSF3_HUMAN	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	het	94
5	16	89160329	C	G	ENST00000317447	ENSG00000176715	89154783	89222254	ENSP00000320646	ACSF3	1	ACSF3_HUMAN	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	hom	20
6	16	89160329	C	G	ENST00000378345	ENSG00000176715	89154783	89222254	ENSP00000367596	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	het	94
7	16	89160329	C	G	ENST00000378345	ENSG00000176715	89154783	89222254	ENSP00000367596	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	hom	20
8	16	89160329	C	G	ENST00000406948	ENSG00000176715	89154783	89222254	ENSP00000384627	ACSF3	1	ACSF3_HUMAN	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	het	94
9	16	89160329	C	G	ENST00000406948	ENSG00000176715	89154783	89222254	ENSP00000384627	ACSF3	1	ACSF3_HUMAN	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	hom	20
10	16	89160329	C	G	ENST00000537290	ENSG00000176715	89154783	89222254	ENSP00000440734	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	het	94
11	16	89160329	C	G	ENST00000537290	ENSG00000176715	89154783	89222254	ENSP00000440734	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	hom	20
12	16	89160329	C	G	ENST00000540697	ENSG00000176715	89154783	89222254	ENSP00000445397	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	het	94
13	16	89160329	C	G	ENST00000540697	ENSG00000176715	89154783	89222254	ENSP00000445397	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	hom	20
14	16	89160329	C	G	ENST00000541755	ENSG00000176715	89154783	89222254	ENSP00000457301	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	het	94
15	16	89160329	C	G	ENST00000541755	ENSG00000176715	89154783	89222254	ENSP00000457301	ACSF3	1	-	-	-	5'_UTR	rs145228567	0.1068	-	-	DAMAGING	-	-	hom	20
16	16	89160419	G	+CCCACGGGA	ENST00000317447	ENSG00000176715	89154783	89222254	ENSP00000320646	ACSF3	1	ACSF3_HUMAN	-	-	+19bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
17	16	89160419	G	+CCCACGGGA	ENST00000378345	ENSG00000176715	89154783	89222254	ENSP00000367596	ACSF3	1	-	-	-	+19bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
18	16	89160419	G	+CCCACGGGA	ENST00000406948	ENSG00000176715	89154783	89222254	ENSP00000384627	ACSF3	1	ACSF3_HUMAN	-	-	+15bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
19	16	89160419	G	+CCCACGGGA	ENST00000537290	ENSG00000176715	89154783	89222254	ENSP00000440734	ACSF3	1	-	-	-	+19bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
20	16	89160419	G	+CCCACGGGA	ENST00000540697	ENSG00000176715	89154783	89222254	ENSP00000445397	ACSF3	1	-	-	-	+15bp 5'_splice_site	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding ACSF3 16:89154783..89222254 region Gbrowse