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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 ACP5:

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
ENSG00000102575	ACP5	0	0	3	ENSG00000102575	ENST00000218758	ENSP00000218758	acid phosphatase 5, tartrate resistant [Source:HGNC Symbol;Acc:124]	19	11685475	11689823	-1	p13.2	11685475	11689800	ACP5	ACP5-002	HGNC Symbol	HGNC transcript name	12	58.59	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54	124	ACP5	NM_001111035	27526

MSeqDR Master Exome Data Set M1: 127 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	19	11685948	A	G	ENST00000218758	ENSG00000102575	11685475	11689823	ENSP00000218758	ACP5	-1	PPA5_HUMAN	c.855T>C	p.T285T	syn	rs77911902	0.0708	G=7/A=8593;G=478/A=3928;G=485/A=12521	-	-	-	-	het	10
2	19	11685948	A	G	ENST00000412435	ENSG00000102575	11685475	11689823	ENSP00000392374	ACP5	-1	PPA5_HUMAN	c.855T>C	p.T285T	syn	rs77911902	0.0708	G=7/A=8593;G=478/A=3928;G=485/A=12521	-	-	-	-	het	10
3	19	11685948	A	G	ENST00000433365	ENSG00000102575	11685475	11689823	ENSP00000413456	ACP5	-1	PPA5_HUMAN	c.855T>C	p.T285T	syn	rs77911902	0.0708	G=7/A=8593;G=478/A=3928;G=485/A=12521	-	-	-	-	het	10
4	19	11685948	A	G	ENST00000590420	ENSG00000102575	11685475	11689823	ENSP00000468509	ACP5	-1	-	c.128T>C	p.L43P	non-syn	rs77911902	0.0708	G=7/A=8593;G=478/A=3928;G=485/A=12521	-	-	-	-	het	10
5	19	11685948	A	G	ENST00000592828	ENSG00000102575	11685475	11689823	ENSP00000468767	ACP5	-1	PPA5_HUMAN	c.855T>C	p.T285T	syn	rs77911902	0.0708	G=7/A=8593;G=478/A=3928;G=485/A=12521	-	-	-	-	het	10
6	19	11685965	G	A	ENST00000218758	ENSG00000102575	11685475	11689823	ENSP00000218758	ACP5	-1	PPA5_HUMAN	c.838C>T	p.R280C	non-syn	NA	-	-	lod=80:437	DAMAGING	D	-	het	2
7	19	11685965	G	A	ENST00000412435	ENSG00000102575	11685475	11689823	ENSP00000392374	ACP5	-1	PPA5_HUMAN	c.838C>T	p.R280C	non-syn	NA	-	-	lod=80:437	DAMAGING	D	-	het	2
8	19	11685965	G	A	ENST00000433365	ENSG00000102575	11685475	11689823	ENSP00000413456	ACP5	-1	PPA5_HUMAN	c.838C>T	p.R280C	non-syn	NA	-	-	lod=80:437	DAMAGING	D	-	het	2
9	19	11685965	G	A	ENST00000590420	ENSG00000102575	11685475	11689823	ENSP00000468509	ACP5	-1	-	c.111C>T	p.C37C	syn	NA	-	-	lod=80:437	DAMAGING	D	-	het	2
10	19	11685965	G	A	ENST00000592828	ENSG00000102575	11685475	11689823	ENSP00000468767	ACP5	-1	PPA5_HUMAN	c.838C>T	p.R280C	non-syn	NA	-	-	lod=80:437	DAMAGING	D	-	het	2
11	19	11685989	G	A	ENST00000218758	ENSG00000102575	11685475	11689823	ENSP00000218758	ACP5	-1	PPA5_HUMAN	c.814C>T	p.R272C	non-syn	rs147025508	0.00588	A=54/G=8546;A=3/G=4403;A=57/G=12949	-	DAMAGING	D	-	het	5
12	19	11685989	G	A	ENST00000412435	ENSG00000102575	11685475	11689823	ENSP00000392374	ACP5	-1	PPA5_HUMAN	c.814C>T	p.R272C	non-syn	rs147025508	0.00588	A=54/G=8546;A=3/G=4403;A=57/G=12949	-	DAMAGING	D	-	het	5
13	19	11685989	G	A	ENST00000433365	ENSG00000102575	11685475	11689823	ENSP00000413456	ACP5	-1	PPA5_HUMAN	c.814C>T	p.R272C	non-syn	rs147025508	0.00588	A=54/G=8546;A=3/G=4403;A=57/G=12949	-	DAMAGING	D	-	het	5
14	19	11685989	G	A	ENST00000590420	ENSG00000102575	11685475	11689823	ENSP00000468509	ACP5	-1	-	c.87C>T	p.S29S	syn	rs147025508	0.00588	A=54/G=8546;A=3/G=4403;A=57/G=12949	-	DAMAGING	D	-	het	5
15	19	11685989	G	A	ENST00000592828	ENSG00000102575	11685475	11689823	ENSP00000468767	ACP5	-1	PPA5_HUMAN	c.814C>T	p.R272C	non-syn	rs147025508	0.00588	A=54/G=8546;A=3/G=4403;A=57/G=12949	-	DAMAGING	D	-	het	5
16	19	11687077	C	T	ENST00000218758	ENSG00000102575	11685475	11689823	ENSP00000218758	ACP5	-1	PPA5_HUMAN	c.716G>A	p.G239D	non-syn	NA	-	-	lod=248:558	DAMAGING	D	-	het	1
17	19	11687077	C	T	ENST00000412435	ENSG00000102575	11685475	11689823	ENSP00000392374	ACP5	-1	PPA5_HUMAN	c.716G>A	p.G239D	non-syn	NA	-	-	lod=248:558	DAMAGING	D	-	het	1
18	19	11687077	C	T	ENST00000433365	ENSG00000102575	11685475	11689823	ENSP00000413456	ACP5	-1	PPA5_HUMAN	c.716G>A	p.G239D	non-syn	NA	-	-	lod=248:558	DAMAGING	D	-	het	1
19	19	11687077	C	T	ENST00000592828	ENSG00000102575	11685475	11689823	ENSP00000468767	ACP5	-1	PPA5_HUMAN	c.716G>A	p.G239D	non-syn	NA	-	-	lod=248:558	DAMAGING	D	-	het	1
20	19	11687100	G	A	ENST00000218758	ENSG00000102575	11685475	11689823	ENSP00000218758	ACP5	-1	PPA5_HUMAN	c.693C>T	p.Y231Y	syn	NA	-	-	lod=49:385	-	-	-	het	4

** 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 ACP5 19:11685475..11689823 region Gbrowse