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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 GFER:

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
ENSG00000127554	GFER	1	8	13	ENSG00000127554	ENST00000569451	ENSP00000456432	growth factor, augmenter of liver regeneration [Source:HGNC Symbol;Acc:4236]	16	2034208	2037750	1	p13.3	2034208	2036113	GFER	GFER-003	HGNC Symbol	HGNC transcript name	5	60.99	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	2671	4236	GFER		27514

MSeqDR Master Exome Data Set M1: 63 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	16	2034273	G	-C	ENST00000248114	ENSG00000127554	2034208	2037750	ENSP00000248114	GFER	1	ALR_HUMAN	c.55_55del	p.P19NA	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
2	16	2034273	G	-C	ENST00000561710	ENSG00000127554	2034208	2037750	ENSP00000456189	GFER	1	-	c.16_16del	p.P6NA	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
3	16	2034273	G	-C	ENST00000569451	ENSG00000127554	2034208	2037750	ENSP00000456432	GFER	1	-	c.55_55del	p.P19NA	non-syn	NA	-	-	lod=27:321	-	-	-	het	1
4	16	2034408	G	C	ENST00000248114	ENSG00000127554	2034208	2037750	ENSP00000248114	GFER	1	ALR_HUMAN	c.189G>C	p.E63D	non-syn	NA	-	C=2/G=6508;C=1/G=2865;C=3/G=9373	-	TOLERATED	B	-	het	3
5	16	2034408	G	C	ENST00000561710	ENSG00000127554	2034208	2037750	ENSP00000456189	GFER	1	-	c.150G>C	p.E50D	non-syn	NA	-	C=2/G=6508;C=1/G=2865;C=3/G=9373	-	TOLERATED	B	-	het	3
6	16	2034408	G	C	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.76G>C	p.G26R	non-syn	NA	-	C=2/G=6508;C=1/G=2865;C=3/G=9373	-	TOLERATED	B	-	het	3
7	16	2034408	G	C	ENST00000569451	ENSG00000127554	2034208	2037750	ENSP00000456432	GFER	1	-	c.189G>C	p.E63D	non-syn	NA	-	C=2/G=6508;C=1/G=2865;C=3/G=9373	-	TOLERATED	B	-	het	3
8	16	2034585	C	A	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.253C>A	p.P85T	non-syn	NA	-	-	-	-	-	-	het	9
9	16	2034613	C	T	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.281C>T	p.S94L	non-syn	rs146529877	0.0078	-	-	-	-	-	het	3
10	16	2034619	C	T	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.287C>T	p.A96V	non-syn	NA	-	-	-	-	-	-	het	1
11	16	2034645	T	G	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.313T>G	p.F105V	non-syn	NA	-	-	-	-	-	-	het	1
12	16	2034661	T	C	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.329T>C	p.V110A	non-syn	rs2075812	0.3703	-	-	-	-	-	het	467
13	16	2034661	T	C	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.329T>C	p.V110A	non-syn	rs2075812	0.3703	-	-	-	-	-	hom	198
14	16	2035868	C	T	ENST00000248114	ENSG00000127554	2034208	2037750	ENSP00000248114	GFER	1	ALR_HUMAN	c.457C>T	p.L153L	syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	hom	18
15	16	2035868	C	T	ENST00000248114	ENSG00000127554	2034208	2037750	ENSP00000248114	GFER	1	ALR_HUMAN	c.457C>T	p.L153L	syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	het	181
16	16	2035868	C	T	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.614C>T	p.A205V	non-syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	hom	18
17	16	2035868	C	T	ENST00000565658	ENSG00000127554	2034208	2037750	-	GFER	1	-	c.614C>T	p.A205V	non-syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	het	181
18	16	2035868	C	T	ENST00000567719	ENSG00000127554	2034208	2037750	ENSP00000455885	GFER	1	-	c.232C>T	p.L78L	syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	hom	18
19	16	2035868	C	T	ENST00000567719	ENSG00000127554	2034208	2037750	ENSP00000455885	GFER	1	-	c.232C>T	p.L78L	syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	het	181
20	16	2035868	C	T	ENST00000569451	ENSG00000127554	2034208	2037750	ENSP00000456432	GFER	1	-	c.260C>T	p.A87V	non-syn	rs1046502	0.3165	T=1149/C=7451;T=1611/C=2785;T=2760/C=10236	lod=32:340	-	-	-	hom	18

** 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 GFER 16:2034208..2037750 region Gbrowse