MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 APRT:

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
ENSG00000198931	APRT	0	0	11	ENSG00000198931	ENST00000378364	ENSP00000367615	adenine phosphoribosyltransferase [Source:HGNC Symbol;Acc:626]	16	88875747	88878352	-1	q24.3	88875747	88878352	APRT	APRT-001	HGNC Symbol	HGNC transcript name	11	64.35	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	353	626	APRT	NM_000485	27514

MSeqDR Master Exome Data Set M1: 158 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	88875906	C	T	ENST00000378364	ENSG00000198931	88875747	88878352	ENSP00000367615	APRT	-1	APT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	16	88875906	C	T	ENST00000426324	ENSG00000198931	88875747	88878352	ENSP00000397007	APRT	-1	APT_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	16	88875906	C	T	ENST00000563655	ENSG00000198931	88875747	88878352	ENSP00000456012	APRT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	16	88875906	C	T	ENST00000567057	ENSG00000198931	88875747	88878352	-	APRT	-1	-	c.408G>A	p.A136A	syn	NA	-	-	-	-	-	-	het	1
5	16	88875906	C	T	ENST00000567391	ENSG00000198931	88875747	88878352	ENSP00000457964	APRT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	16	88875906	C	T	ENST00000567713	ENSG00000198931	88875747	88878352	ENSP00000455749	APRT	-1	-	c.359G>A	p.R120Q	non-syn	NA	-	-	-	-	-	-	het	1
7	16	88875906	C	T	ENST00000568319	ENSG00000198931	88875747	88878352	ENSP00000456905	APRT	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	16	88875928	T	C	ENST00000378364	ENSG00000198931	88875747	88878352	ENSP00000367615	APRT	-1	APT_HUMAN	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	het	59
9	16	88875928	T	C	ENST00000378364	ENSG00000198931	88875747	88878352	ENSP00000367615	APRT	-1	APT_HUMAN	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	hom	7
10	16	88875928	T	C	ENST00000426324	ENSG00000198931	88875747	88878352	ENSP00000397007	APRT	-1	APT_HUMAN	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	het	59
11	16	88875928	T	C	ENST00000426324	ENSG00000198931	88875747	88878352	ENSP00000397007	APRT	-1	APT_HUMAN	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	hom	7
12	16	88875928	T	C	ENST00000563655	ENSG00000198931	88875747	88878352	ENSP00000456012	APRT	-1	-	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	het	59
13	16	88875928	T	C	ENST00000563655	ENSG00000198931	88875747	88878352	ENSP00000456012	APRT	-1	-	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	hom	7
14	16	88875928	T	C	ENST00000567057	ENSG00000198931	88875747	88878352	-	APRT	-1	-	c.386A>G	p.H129R	non-syn	rs4695	0.3121	-	-	-	-	-	het	59
15	16	88875928	T	C	ENST00000567057	ENSG00000198931	88875747	88878352	-	APRT	-1	-	c.386A>G	p.H129R	non-syn	rs4695	0.3121	-	-	-	-	-	hom	7
16	16	88875928	T	C	ENST00000567391	ENSG00000198931	88875747	88878352	ENSP00000457964	APRT	-1	-	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	het	59
17	16	88875928	T	C	ENST00000567391	ENSG00000198931	88875747	88878352	ENSP00000457964	APRT	-1	-	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	hom	7
18	16	88875928	T	C	ENST00000567713	ENSG00000198931	88875747	88878352	ENSP00000455749	APRT	-1	-	c.337A>G	p.T113A	non-syn	rs4695	0.3121	-	-	-	-	-	het	59
19	16	88875928	T	C	ENST00000567713	ENSG00000198931	88875747	88878352	ENSP00000455749	APRT	-1	-	c.337A>G	p.T113A	non-syn	rs4695	0.3121	-	-	-	-	-	hom	7
20	16	88875928	T	C	ENST00000568319	ENSG00000198931	88875747	88878352	ENSP00000456905	APRT	-1	-	-	-	3'_UTR	rs4695	0.3121	-	-	-	-	-	het	59

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding APRT 16:88875747..88878352 region Gbrowse