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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 FGFR1:

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
ENSG00000077782	FGFR1	0	0	51	ENSG00000077782	ENST00000434187	ENSP00000392645	fibroblast growth factor receptor 1 [Source:HGNC Symbol;Acc:3688]	8	38268656	38326352	-1	p11.22	38285881	38324213	FGFR1	FGFR1-016	HGNC Symbol	HGNC transcript name	40	50.55	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	2260	3688	FGFR1		27523

MSeqDR Master Exome Data Set M1: 741 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	8	38268723	G	T	ENST00000341462	ENSG00000077782	38268656	38326352	ENSP00000340636	FGFR1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	8	38268723	G	T	ENST00000397091	ENSG00000077782	38268656	38326352	ENSP00000380280	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	8	38268723	G	T	ENST00000425967	ENSG00000077782	38268656	38326352	ENSP00000393312	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	8	38268723	G	T	ENST00000447712	ENSG00000077782	38268656	38326352	ENSP00000400162	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	8	38268755	T	C	ENST00000341462	ENSG00000077782	38268656	38326352	ENSP00000340636	FGFR1	-1	-	-	-	3'_UTR	rs185729862	0.0021	-	-	-	-	-	het	4
6	8	38268755	T	C	ENST00000397091	ENSG00000077782	38268656	38326352	ENSP00000380280	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs185729862	0.0021	-	-	-	-	-	het	4
7	8	38268755	T	C	ENST00000425967	ENSG00000077782	38268656	38326352	ENSP00000393312	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs185729862	0.0021	-	-	-	-	-	het	4
8	8	38268755	T	C	ENST00000447712	ENSG00000077782	38268656	38326352	ENSP00000400162	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs185729862	0.0021	-	-	-	-	-	het	4
9	8	38268755	T	C	ENST00000532791	ENSG00000077782	38268656	38326352	ENSP00000432972	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs185729862	0.0021	-	-	-	-	-	het	4
10	8	38269041	G	-T	ENST00000341462	ENSG00000077782	38268656	38326352	ENSP00000340636	FGFR1	-1	-	-	-	3'_UTR	rs201364530	-	-	-	-	-	-	het	1
11	8	38269041	G	-T	ENST00000397091	ENSG00000077782	38268656	38326352	ENSP00000380280	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs201364530	-	-	-	-	-	-	het	1
12	8	38269041	G	-T	ENST00000425967	ENSG00000077782	38268656	38326352	ENSP00000393312	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs201364530	-	-	-	-	-	-	het	1
13	8	38269041	G	-T	ENST00000447712	ENSG00000077782	38268656	38326352	ENSP00000400162	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs201364530	-	-	-	-	-	-	het	1
14	8	38269041	G	-T	ENST00000532791	ENSG00000077782	38268656	38326352	ENSP00000432972	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs201364530	-	-	-	-	-	-	het	1
15	8	38269047	A	C	ENST00000341462	ENSG00000077782	38268656	38326352	ENSP00000340636	FGFR1	-1	-	-	-	3'_UTR	rs16887356	0.0441	-	-	-	-	-	het	7
16	8	38269047	A	C	ENST00000341462	ENSG00000077782	38268656	38326352	ENSP00000340636	FGFR1	-1	-	-	-	3'_UTR	rs16887356	0.0441	-	-	-	-	-	hom	1
17	8	38269047	A	C	ENST00000397091	ENSG00000077782	38268656	38326352	ENSP00000380280	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs16887356	0.0441	-	-	-	-	-	het	7
18	8	38269047	A	C	ENST00000397091	ENSG00000077782	38268656	38326352	ENSP00000380280	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs16887356	0.0441	-	-	-	-	-	hom	1
19	8	38269047	A	C	ENST00000425967	ENSG00000077782	38268656	38326352	ENSP00000393312	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs16887356	0.0441	-	-	-	-	-	het	7
20	8	38269047	A	C	ENST00000425967	ENSG00000077782	38268656	38326352	ENSP00000393312	FGFR1	-1	FGFR1_HUMAN	-	-	3'_UTR	rs16887356	0.0441	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding FGFR1 8:38268656..38326352 region Gbrowse