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 ENSG00000256053:

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
ENSG00000256053	APOPT1	1	27	4	ENSG00000256053	ENST00000477116		apoptogenic 1, mitochondrial [Source:HGNC Symbol;Acc:20492]	14	104029299	104073860	1	q32.33	104029510	104056863	APOPT1	APOPT1-008	HGNC Symbol	HGNC transcript name	17	48.97	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	84334	20492	APOPT1		27520

MSeqDR Master Exome Data Set M1: 197 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	14	104029346	T	C	ENST00000247618	ENSG00000256053	104029299	104073860	ENSP00000247618	APOPT1	1	-	c.8T>C	p.V3A	non-syn	rs61733762	0.0583	C=6/T=8382;C=258/T=4010;C=264/T=12392	-	TOLERATED	B	-	het	8
2	14	104029346	T	C	ENST00000409074	ENSG00000256053	104029299	104073860	ENSP00000386485	APOPT1	1	APOP1_HUMAN	c.47T>C	p.V16A	non-syn	rs61733762	0.0583	C=6/T=8382;C=258/T=4010;C=264/T=12392	-	TOLERATED	B	-	het	8
3	14	104029346	T	C	ENST00000440963	ENSG00000256053	104029299	104073860	ENSP00000388067	APOPT1	1	-	c.45T>C	p.G15G	syn	rs61733762	0.0583	C=6/T=8382;C=258/T=4010;C=264/T=12392	-	TOLERATED	B	-	het	8
4	14	104029346	T	C	ENST00000458117	ENSG00000256053	104029299	104073860	ENSP00000408525	APOPT1	1	-	c.31T>C	p.S11P	non-syn	rs61733762	0.0583	C=6/T=8382;C=258/T=4010;C=264/T=12392	-	TOLERATED	B	-	het	8
5	14	104029346	T	C	ENST00000554625	ENSG00000256053	104029299	104073860	-	APOPT1	1	-	c.28T>C	p.S10P	non-syn	rs61733762	0.0583	C=6/T=8382;C=258/T=4010;C=264/T=12392	-	TOLERATED	B	-	het	8
6	14	104029346	T	C	ENST00000556253	ENSG00000256053	104029299	104073860	ENSP00000451874	APOPT1	1	-	c.8T>C	p.V3A	non-syn	rs61733762	0.0583	C=6/T=8382;C=258/T=4010;C=264/T=12392	-	TOLERATED	B	-	het	8
7	14	104029378	C	A	ENST00000247618	ENSG00000256053	104029299	104073860	ENSP00000247618	APOPT1	1	-	c.40C>A	p.P14T	non-syn	NA	-	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	P	-	het	3
8	14	104029378	C	A	ENST00000409074	ENSG00000256053	104029299	104073860	ENSP00000386485	APOPT1	1	APOP1_HUMAN	c.79C>A	p.P27T	non-syn	NA	-	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	P	-	het	3
9	14	104029378	C	A	ENST00000440963	ENSG00000256053	104029299	104073860	ENSP00000388067	APOPT1	1	-	c.77C>A	p.P26H	non-syn	NA	-	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	P	-	het	3
10	14	104029378	C	A	ENST00000458117	ENSG00000256053	104029299	104073860	ENSP00000408525	APOPT1	1	-	c.63C>A	p.P21P	syn	NA	-	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	P	-	het	3
11	14	104029378	C	A	ENST00000554625	ENSG00000256053	104029299	104073860	-	APOPT1	1	-	c.60C>A	p.P20P	syn	NA	-	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	P	-	het	3
12	14	104029378	C	A	ENST00000556253	ENSG00000256053	104029299	104073860	ENSP00000451874	APOPT1	1	-	c.40C>A	p.P14T	non-syn	NA	-	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	P	-	het	3
13	14	104029378	C	G	ENST00000247618	ENSG00000256053	104029299	104073860	ENSP00000247618	APOPT1	1	-	c.40C>G	p.P14A	non-syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	het	297
14	14	104029378	C	G	ENST00000247618	ENSG00000256053	104029299	104073860	ENSP00000247618	APOPT1	1	-	c.40C>G	p.P14A	non-syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	hom	102
15	14	104029378	C	G	ENST00000409074	ENSG00000256053	104029299	104073860	ENSP00000386485	APOPT1	1	APOP1_HUMAN	c.79C>G	p.P27A	non-syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	het	297
16	14	104029378	C	G	ENST00000409074	ENSG00000256053	104029299	104073860	ENSP00000386485	APOPT1	1	APOP1_HUMAN	c.79C>G	p.P27A	non-syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	hom	102
17	14	104029378	C	G	ENST00000440963	ENSG00000256053	104029299	104073860	ENSP00000388067	APOPT1	1	-	c.77C>G	p.P26R	non-syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	het	297
18	14	104029378	C	G	ENST00000440963	ENSG00000256053	104029299	104073860	ENSP00000388067	APOPT1	1	-	c.77C>G	p.P26R	non-syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	hom	102
19	14	104029378	C	G	ENST00000458117	ENSG00000256053	104029299	104073860	ENSP00000408525	APOPT1	1	-	c.63C>G	p.P21P	syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	het	297
20	14	104029378	C	G	ENST00000458117	ENSG00000256053	104029299	104073860	ENSP00000408525	APOPT1	1	-	c.63C>G	p.P21P	syn	rs2274268	0.3107	G=2427/C=5815;G=924/C=3274;G=3351/C=9089	-	TOLERATED	B	-	hom	102

** 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 APOPT1 14:104029299..104073860 region Gbrowse