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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 FGF14:

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
ENSG00000102466	FGF14	1	0	2	ENSG00000102466	ENST00000376131	ENSP00000365301	fibroblast growth factor 14 [Source:HGNC Symbol;Acc:3671]	13	102372134	103054124	-1	q33.1	102372134	103054124	FGF14	FGF14-002	HGNC Symbol	HGNC transcript name	3	37.28	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2259	3671	FGF14	NM_175929	27513

MSeqDR Master Exome Data Set M1: 28 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	13	102375004	T	+G	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	-	-	3'_UTR	NA	-	-	lod=31:336	-	-	-	het	7
2	13	102375004	T	+G	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	-	-	3'_UTR	NA	-	-	lod=31:336	-	-	-	hom	1
3	13	102375005	G	C	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	-	-	3'_UTR	rs191705440	0.0089	-	lod=31:336	-	-	-	het	1
4	13	102375025	A	G	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	-	-	3'_UTR	NA	-	-	lod=67:419	-	-	-	het	3
5	13	102375150	C	T	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	-	-	3'_UTR	rs149661933	0.01264	T=111/C=8489;T=15/C=4391;T=126/C=12880	-	-	-	-	het	20
6	13	102375150	C	T	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	-	-	3'_UTR	rs149661933	0.01264	T=111/C=8489;T=15/C=4391;T=126/C=12880	-	-	-	-	hom	2
7	13	102375232	C	T	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	c.708G>A	p.A236A	syn	rs34397704	0.0119	T=171/C=8429;T=21/C=4385;T=192/C=12814	lod=601:653	-	-	-	het	42
8	13	102375232	C	T	ENST00000376143	ENSG00000102466	102372134	103054124	ENSP00000365313	FGF14	-1	FGF14_HUMAN	c.693G>A	p.A231A	syn	rs34397704	0.0119	T=171/C=8429;T=21/C=4385;T=192/C=12814	lod=601:653	-	-	-	het	42
9	13	102375254	G	A	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	c.686C>T	p.T229M	non-syn	NA	-	-	lod=601:653	DAMAGING	P	-	het	2
10	13	102375254	G	A	ENST00000376143	ENSG00000102466	102372134	103054124	ENSP00000365313	FGF14	-1	FGF14_HUMAN	c.671C>T	p.T224M	non-syn	NA	-	-	lod=601:653	DAMAGING	P	-	het	2
11	13	102375289	A	G	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	c.651T>C	p.H217H	syn	rs41281644	-	G=12/A=8588;G=2/A=4404;G=14/A=12992	lod=601:653	DAMAGING	-	-	het	3
12	13	102375289	A	G	ENST00000376143	ENSG00000102466	102372134	103054124	ENSP00000365313	FGF14	-1	FGF14_HUMAN	c.636T>C	p.H212H	syn	rs41281644	-	G=12/A=8588;G=2/A=4404;G=14/A=12992	lod=601:653	DAMAGING	-	-	het	3
13	13	102379035	T	C	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	c.549A>G	p.E183E	syn	NA	-	-	lod=1578:756	-	-	-	het	1
14	13	102379035	T	C	ENST00000376143	ENSG00000102466	102372134	103054124	ENSP00000365313	FGF14	-1	FGF14_HUMAN	c.534A>G	p.E178E	syn	NA	-	-	lod=1578:756	-	-	-	het	1
15	13	102379088	A	G	ENST00000376131	ENSG00000102466	102372134	103054124	ENSP00000365301	FGF14	-1	FGF14_HUMAN	c.496T>C	p.L166L	syn	rs77082831	0.0347	G=3/A=8597;G=194/A=4212;G=197/A=12809	lod=1578:756	-	-	-	het	7
16	13	102379088	A	G	ENST00000376143	ENSG00000102466	102372134	103054124	ENSP00000365313	FGF14	-1	FGF14_HUMAN	c.481T>C	p.L161L	syn	rs77082831	0.0347	G=3/A=8597;G=194/A=4212;G=197/A=12809	lod=1578:756	-	-	-	het	7
17	13	102520884	C	T	ENST00000468052	ENSG00000102466	102372134	103054124	-	FGF14	-1	-	c.404G>A	p.S135N	non-syn	rs182254349	0.0084	-	-	-	-	-	het	4
18	13	102520933	C	+T	ENST00000468052	ENSG00000102466	102372134	103054124	-	FGF14	-1	-	c.354_355insA	p.A119NA	non-syn	rs200264738	-	-	-	-	-	-	het	25
19	13	102520933	C	+T	ENST00000468052	ENSG00000102466	102372134	103054124	-	FGF14	-1	-	c.354_355insA	p.A119NA	non-syn	rs200264738	-	-	-	-	-	-	hom	1
20	13	102521034	T	C	ENST00000468052	ENSG00000102466	102372134	103054124	-	FGF14	-1	-	c.254A>G	p.H85R	non-syn	rs201487248	-	-	-	-	-	-	het	2

** 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.

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Transcripts and variants in the surrounding FGF14 13:102372134..103054124 region Gbrowse