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 ATP6AP2:

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
ENSG00000182220	ATP6AP2	0	0	22	ENSG00000182220	ENST00000378438	ENSP00000367697	ATPase, H+ transporting, lysosomal accessory protein 2 [Source:HGNC Symbol;Acc:18305]	X	40440146	40465889	1	p11.4	40440160	40465889	ATP6AP2	ATP6AP2-004	HGNC Symbol	HGNC transcript name	10	41.55	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10159	18305	ATP6AP2	NM_005765	27516

MSeqDR Master Exome Data Set M1: 141 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	40440198	G	A	ENST00000378438	ENSG00000182220	40440146	40465889	ENSP00000367697	ATP6AP2	1	RENR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	X	40440198	G	A	ENST00000535539	ENSG00000182220	40440146	40465889	ENSP00000438415	ATP6AP2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	X	40440198	G	C	ENST00000378438	ENSG00000182220	40440146	40465889	ENSP00000367697	ATP6AP2	1	RENR_HUMAN	-	-	5'_UTR	rs186401295	0.0147	-	-	-	-	-	het	16
4	X	40440198	G	C	ENST00000378438	ENSG00000182220	40440146	40465889	ENSP00000367697	ATP6AP2	1	RENR_HUMAN	-	-	5'_UTR	rs186401295	0.0147	-	-	-	-	-	hom	6
5	X	40440198	G	C	ENST00000535539	ENSG00000182220	40440146	40465889	ENSP00000438415	ATP6AP2	1	-	-	-	5'_UTR	rs186401295	0.0147	-	-	-	-	-	het	16
6	X	40440198	G	C	ENST00000535539	ENSG00000182220	40440146	40465889	ENSP00000438415	ATP6AP2	1	-	-	-	5'_UTR	rs186401295	0.0147	-	-	-	-	-	hom	6
7	X	40440283	G	C	ENST00000378438	ENSG00000182220	40440146	40465889	ENSP00000367697	ATP6AP2	1	RENR_HUMAN	-	-	5'_UTR	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
8	X	40440283	G	C	ENST00000423649	ENSG00000182220	40440146	40465889	ENSP00000410105	ATP6AP2	1	-	c.21G>C	p.P7P	syn	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
9	X	40440283	G	C	ENST00000436783	ENSG00000182220	40440146	40465889	ENSP00000403969	ATP6AP2	1	-	c.62G>C	p.R21P	non-syn	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
10	X	40440283	G	C	ENST00000447485	ENSG00000182220	40440146	40465889	ENSP00000411317	ATP6AP2	1	-	c.21G>C	p.P7P	syn	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
11	X	40440283	G	C	ENST00000486558	ENSG00000182220	40440146	40465889	-	ATP6AP2	1	-	c.50G>C	p.R17P	non-syn	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
12	X	40440283	G	C	ENST00000535539	ENSG00000182220	40440146	40465889	ENSP00000438415	ATP6AP2	1	-	-	-	5'_UTR	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
13	X	40440283	G	C	ENST00000535777	ENSG00000182220	40440146	40465889	ENSP00000441536	ATP6AP2	1	-	-	-	5'_UTR	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
14	X	40440283	G	C	ENST00000544975	ENSG00000182220	40440146	40465889	ENSP00000440459	ATP6AP2	1	-	-	-	5'_UTR	rs111632930	-	C=0/G=5291;C=68/G=3092;C=68/G=8383	-	DAMAGING	-	-	het	1
15	X	40440336	C	T	ENST00000378438	ENSG00000182220	40440146	40465889	ENSP00000367697	ATP6AP2	1	RENR_HUMAN	c.19C>T	p.L7F	non-syn	NA	-	-	-	TOLERATED	P	-	hom	1
16	X	40440336	C	T	ENST00000423649	ENSG00000182220	40440146	40465889	ENSP00000410105	ATP6AP2	1	-	c.74C>T	p.A25V	non-syn	NA	-	-	-	TOLERATED	P	-	hom	1
17	X	40440336	C	T	ENST00000436783	ENSG00000182220	40440146	40465889	ENSP00000403969	ATP6AP2	1	-	c.115C>T	p.L39F	non-syn	NA	-	-	-	TOLERATED	P	-	hom	1
18	X	40440336	C	T	ENST00000447485	ENSG00000182220	40440146	40465889	ENSP00000411317	ATP6AP2	1	-	c.74C>T	p.A25V	non-syn	NA	-	-	-	TOLERATED	P	-	hom	1
19	X	40440336	C	T	ENST00000486558	ENSG00000182220	40440146	40465889	-	ATP6AP2	1	-	c.103C>T	p.L35F	non-syn	NA	-	-	-	TOLERATED	P	-	hom	1
20	X	40440336	C	T	ENST00000535539	ENSG00000182220	40440146	40465889	ENSP00000438415	ATP6AP2	1	-	c.19C>T	p.L7F	non-syn	NA	-	-	-	TOLERATED	P	-	hom	1

** 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 ATP6AP2 X:40440146..40465889 region Gbrowse