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 GFPT1:

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
ENSG00000198380	GFPT1	0	0	7	ENSG00000198380	ENST00000361060	ENSP00000354347	glutamine--fructose-6-phosphate transaminase 1 [Source:HGNC Symbol;Acc:4241]	2	69546905	69614382	-1	p13.3	69546912	69614380	GFPT1	GFPT1-001	HGNC Symbol	HGNC transcript name	4	39.5	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2673	4241	GFPT1	NM_002056	27508

MSeqDR Master Exome Data Set M1: 83 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	2	69547996	A	C	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
2	2	69551052	T	C	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs10198171	0.5213	-	-	-	-	-	het	1
3	2	69551052	T	C	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs10198171	0.5213	-	-	-	-	-	hom	2
4	2	69552404	A	+T	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	2	69552404	A	+T	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	2	69552451	G	T	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs77753566	0.14033	-	-	-	-	-	hom	9
7	2	69552451	G	T	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs77753566	0.14033	-	-	-	-	-	het	120
8	2	69552451	G	T	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs77753566	0.14033	-	-	-	-	-	hom	9
9	2	69552451	G	T	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs77753566	0.14033	-	-	-	-	-	het	120
10	2	69552521	C	A	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs2667	0.55618	-	-	-	-	-	het	199
11	2	69552521	C	A	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs2667	0.55618	-	-	-	-	-	hom	216
12	2	69552521	C	A	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs2667	0.55618	-	-	-	-	-	het	199
13	2	69552521	C	A	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs2667	0.55618	-	-	-	-	-	hom	216
14	2	69552640	T	C	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	2	69552640	T	C	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	2	69552655	A	G	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
17	2	69552655	A	G	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
18	2	69552686	C	T	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
19	2	69552686	C	T	ENST00000361060	ENSG00000198380	69546905	69614382	ENSP00000354347	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	2	69552718	C	T	ENST00000357308	ENSG00000198380	69546905	69614382	ENSP00000349860	GFPT1	-1	GFPT1_HUMAN	-	-	3'_UTR	rs78097440	0.0159	-	-	-	-	-	het	8

** 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 GFPT1 2:69546905..69614382 region Gbrowse