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
PMD-VR_Virtual Registry
Collaboration
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 APEX2:

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
ENSG00000169188	APEX2	1	0	0	ENSG00000169188	ENST00000374987	ENSP00000364126	APEX nuclease (apurinic/apyrimidinic endonuclease) 2 [Source:HGNC Symbol;Acc:17889]	X	55026790	55035490	1	p11.21	55026790	55035490	APEX2	APEX2-001	HGNC Symbol	HGNC transcript name	2	49.09	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	27301	17889	APEX2	NM_014481	27516

MSeqDR Master Exome Data Set M1: 76 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	X	55026846	G	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	-	-	5'_UTR	rs1008681	0.0015	-	-	-	-	-	hom	1
2	X	55026846	G	T	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	c.21G>T	p.Q7H	non-syn	rs1008681	0.0015	-	-	-	-	-	hom	1
3	X	55026850	T	G	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	-	-	5'_UTR	rs28382675	0.0195	G=1/T=6719;G=227/T=3605;G=228/T=10324	-	-	-	-	het	1
4	X	55026850	T	G	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	c.25T>G	p.F9V	non-syn	rs28382675	0.0195	G=1/T=6719;G=227/T=3605;G=228/T=10324	-	-	-	-	het	1
5	X	55026900	C	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	c.45C>T	p.P15P	syn	NA	-	T=3/C=6725;T=0/C=3835;T=3/C=10560	-	-	-	-	het	3
6	X	55026900	C	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	c.45C>T	p.P15P	syn	NA	-	T=3/C=6725;T=0/C=3835;T=3/C=10560	-	-	-	-	hom	2
7	X	55026900	C	T	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	c.75C>T	p.P25P	syn	NA	-	T=3/C=6725;T=0/C=3835;T=3/C=10560	-	-	-	-	het	3
8	X	55026900	C	T	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	c.75C>T	p.P25P	syn	NA	-	T=3/C=6725;T=0/C=3835;T=3/C=10560	-	-	-	-	hom	2
9	X	55027964	A	-T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	-	-	-14bp 3'_splice_site	rs71823943	-	-	-	-	-	-	het	6
10	X	55027964	A	-T	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	-	-	-14bp 3'_splice_site	rs71823943	-	-	-	-	-	-	het	6
11	X	55027998	C	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	c.177C>T	p.P59P	syn	rs61752442	0.0051	T=57/C=6671;T=7/C=3828;T=64/C=10499	lod=223:547	-	-	-	hom	2
12	X	55027998	C	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	c.177C>T	p.P59P	syn	rs61752442	0.0051	T=57/C=6671;T=7/C=3828;T=64/C=10499	lod=223:547	-	-	-	het	6
13	X	55027998	C	T	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	c.207C>T	p.P69P	syn	rs61752442	0.0051	T=57/C=6671;T=7/C=3828;T=64/C=10499	lod=223:547	-	-	-	hom	2
14	X	55027998	C	T	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	c.207C>T	p.P69P	syn	rs61752442	0.0051	T=57/C=6671;T=7/C=3828;T=64/C=10499	lod=223:547	-	-	-	het	6
15	X	55028072	G	A	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	X	55028072	G	A	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	2
17	X	55028072	G	A	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
18	X	55028072	G	A	ENST00000471758	ENSG00000169188	55026790	55035490	-	APEX2	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	2
19	X	55028691	C	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	c.249C>T	p.A83A	syn	rs61752443	0.0061	T=72/C=6655;T=8/C=3827;T=80/C=10482	lod=143:500	-	-	-	het	13
20	X	55028691	C	T	ENST00000374987	ENSG00000169188	55026790	55035490	ENSP00000364126	APEX2	1	APEX2_HUMAN	c.249C>T	p.A83A	syn	rs61752443	0.0061	T=72/C=6655;T=8/C=3827;T=80/C=10482	lod=143:500	-	-	-	hom	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.

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 APEX2 X:55026790..55035490 region Gbrowse