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 ENSG00000168827:

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
ENSG00000168827	GFM1	1	155	38	ENSG00000168827	ENST00000486715	ENSP00000419038	G elongation factor, mitochondrial 1 [Source:HGNC Symbol;Acc:13780]	3	158362067	158410364	1	q25.32	158362067	158410364	GFM1	GFM1-001	HGNC Symbol	HGNC transcript name	11	36.9	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	85476	13780	GFM1	NM_024996	27517

MSeqDR Master Exome Data Set M1: 296 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	3	158362175	T	C	ENST00000486715	ENSG00000168827	158362067	158410364	ENSP00000419038	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	3	158362200	C	G	ENST00000486715	ENSG00000168827	158362067	158410364	ENSP00000419038	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	NA	-	-	lod=13:243	-	-	-	het	1
3	3	158362351	C	T	ENST00000478254	ENSG00000168827	158362067	158410364	ENSP00000417225	GFM1	1	-	-	-	5'_UTR	rs116614958	0.0311	-	-	-	-	-	het	8
4	3	158362351	C	T	ENST00000478576	ENSG00000168827	158362067	158410364	ENSP00000418755	GFM1	1	-	-	-	5'_UTR	rs116614958	0.0311	-	-	-	-	-	het	8
5	3	158362351	C	T	ENST00000486715	ENSG00000168827	158362067	158410364	ENSP00000419038	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	rs116614958	0.0311	-	-	-	-	-	het	8
6	3	158362386	C	T	ENST00000264263	ENSG00000168827	158362067	158410364	ENSP00000264263	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	NA	-	T=2/C=8000;T=0/C=3882;T=2/C=11882	-	-	-	-	het	2
7	3	158362386	C	T	ENST00000478254	ENSG00000168827	158362067	158410364	ENSP00000417225	GFM1	1	-	-	-	5'_UTR	NA	-	T=2/C=8000;T=0/C=3882;T=2/C=11882	-	-	-	-	het	2
8	3	158362386	C	T	ENST00000478576	ENSG00000168827	158362067	158410364	ENSP00000418755	GFM1	1	-	-	-	5'_UTR	NA	-	T=2/C=8000;T=0/C=3882;T=2/C=11882	-	-	-	-	het	2
9	3	158362386	C	T	ENST00000486715	ENSG00000168827	158362067	158410364	ENSP00000419038	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	NA	-	T=2/C=8000;T=0/C=3882;T=2/C=11882	-	-	-	-	het	2
10	3	158362391	C	T	ENST00000264263	ENSG00000168827	158362067	158410364	ENSP00000264263	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	hom	40
11	3	158362391	C	T	ENST00000264263	ENSG00000168827	158362067	158410364	ENSP00000264263	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	het	227
12	3	158362391	C	T	ENST00000478254	ENSG00000168827	158362067	158410364	ENSP00000417225	GFM1	1	-	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	hom	40
13	3	158362391	C	T	ENST00000478254	ENSG00000168827	158362067	158410364	ENSP00000417225	GFM1	1	-	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	het	227
14	3	158362391	C	T	ENST00000478576	ENSG00000168827	158362067	158410364	ENSP00000418755	GFM1	1	-	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	hom	40
15	3	158362391	C	T	ENST00000478576	ENSG00000168827	158362067	158410364	ENSP00000418755	GFM1	1	-	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	het	227
16	3	158362391	C	T	ENST00000486715	ENSG00000168827	158362067	158410364	ENSP00000419038	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	hom	40
17	3	158362391	C	T	ENST00000486715	ENSG00000168827	158362067	158410364	ENSP00000419038	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	rs28372852	0.1867	T=1487/C=6625;T=400/C=3586;T=1887/C=10211	-	-	-	-	het	227
18	3	158362393	A	G	ENST00000264263	ENSG00000168827	158362067	158410364	ENSP00000264263	GFM1	1	EFGM_HUMAN	-	-	5'_UTR	rs28372853	0.0361	G=1/A=8137;G=0/A=4016;G=1/A=12153	-	-	-	-	het	3
19	3	158362393	A	G	ENST00000478254	ENSG00000168827	158362067	158410364	ENSP00000417225	GFM1	1	-	-	-	5'_UTR	rs28372853	0.0361	G=1/A=8137;G=0/A=4016;G=1/A=12153	-	-	-	-	het	3
20	3	158362393	A	G	ENST00000478576	ENSG00000168827	158362067	158410364	ENSP00000418755	GFM1	1	-	-	-	5'_UTR	rs28372853	0.0361	G=1/A=8137;G=0/A=4016;G=1/A=12153	-	-	-	-	het	3

** 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 GFM1 3:158362067..158410364 region Gbrowse