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 ATP5L:

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
ENSG00000167283	ATP5L	1	0	0	ENSG00000167283	ENST00000300688	ENSP00000300688	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G [Source:HGNC Symbol;Acc:14247]	11	118271869	118302211	1	q23.3	118271869	118280560	ATP5L	ATP5L-001	HGNC Symbol	HGNC transcript name	8	42.83	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10632	14247	ATP5L	NM_006476	27504
ENSG00000268551	ATP5L	1	0	0	ENSG00000268551	ENST00000599678	ENSP00000470795	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G [Source:HGNC Symbol;Acc:14247]	HG122_PATCH	118271869	118302211	1	q23.3	118271869	118280560	ATP5L	ATP5L-001	HGNC Symbol	HGNC transcript name	8	42.83	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10632	14247	ATP5L		0

Please limit to single gene from the list by clicking

or searching from top right search box.

MSeqDR Master Exome Data Set M1: 51 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	11	118271891	A	G	ENST00000300688	ENSG00000167283	118271869	118302211	ENSP00000300688	ATP5L	1	ATP5L_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	11	118272355	G	A	ENST00000300688	ENSG00000167283	118271869	118302211	ENSP00000300688	ATP5L	1	ATP5L_HUMAN	-	-	5'_UTR	NA	-	A=2/G=8590;A=0/G=4400;A=2/G=12990	-	-	-	-	het	1
3	11	118272355	G	A	ENST00000524422	ENSG00000167283	118271869	118302211	ENSP00000434865	ATP5L	1	-	-	-	5'_UTR	NA	-	A=2/G=8590;A=0/G=4400;A=2/G=12990	-	-	-	-	het	1
4	11	118272355	G	A	ENST00000529460	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.8G>A	p.G3E	non-syn	NA	-	A=2/G=8590;A=0/G=4400;A=2/G=12990	-	-	-	-	het	1
5	11	118272355	G	A	ENST00000529770	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.22G>A	p.G8S	non-syn	NA	-	A=2/G=8590;A=0/G=4400;A=2/G=12990	-	-	-	-	het	1
6	11	118272355	G	A	ENST00000529790	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.31G>A	p.G11S	non-syn	NA	-	A=2/G=8590;A=0/G=4400;A=2/G=12990	-	-	-	-	het	1
7	11	118272355	G	A	ENST00000533172	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.19G>A	p.G7S	non-syn	NA	-	A=2/G=8590;A=0/G=4400;A=2/G=12990	-	-	-	-	het	1
8	11	118272454	C	G	ENST00000529460	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	-	-	+11bp 5'_splice_site	rs189530708	0.0103	G=152/C=8440;G=17/C=4381;G=169/C=12821	-	-	-	-	het	24
9	11	118277598	C	T	ENST00000527186	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.757C>T	p.R253W	non-syn	rs78889201	0.0308	-	lod=1380:742	-	-	-	het	1
10	11	118277600	G	A	ENST00000527186	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.759G>A	p.R253R	syn	NA	-	-	lod=1380:742	-	-	-	het	1
11	11	118277742	G	C	ENST00000300688	ENSG00000167283	118271869	118302211	ENSP00000300688	ATP5L	1	ATP5L_HUMAN	c.143G>C	p.R48T	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	het	1
12	11	118277742	G	C	ENST00000300688	ENSG00000167283	118271869	118302211	ENSP00000300688	ATP5L	1	ATP5L_HUMAN	c.143G>C	p.R48T	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	hom	1
13	11	118277742	G	C	ENST00000524422	ENSG00000167283	118271869	118302211	ENSP00000434865	ATP5L	1	-	c.143G>C	p.R48T	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	het	1
14	11	118277742	G	C	ENST00000524422	ENSG00000167283	118271869	118302211	ENSP00000434865	ATP5L	1	-	c.143G>C	p.R48T	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	hom	1
15	11	118277742	G	C	ENST00000527186	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.901G>C	p.E301Q	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	het	1
16	11	118277742	G	C	ENST00000527186	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.901G>C	p.E301Q	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	hom	1
17	11	118277742	G	C	ENST00000529460	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.187G>C	p.E63Q	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	het	1
18	11	118277742	G	C	ENST00000529460	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.187G>C	p.E63Q	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	hom	1
19	11	118277742	G	C	ENST00000529770	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.305G>C	p.R102T	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	het	1
20	11	118277742	G	C	ENST00000529770	ENSG00000167283	118271869	118302211	-	ATP5L	1	-	c.305G>C	p.R102T	non-syn	rs181465227	0.0011	-	lod=1380:742	TOLERATED	B	-	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 ATP5L 11:118271869..118302211 region Gbrowse