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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 FBP1:

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
ENSG00000165140	FBP1	1	0	25	ENSG00000165140	ENST00000375326	ENSP00000364475	fructose-1,6-bisphosphatase 1 [Source:HGNC Symbol;Acc:3606]	9	97365415	97402531	-1	q22.32	97365415	97401789	FBP1	FBP1-001	HGNC Symbol	HGNC transcript name	3	48.66	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2203	3606	FBP1	NM_000507	27518

MSeqDR Master Exome Data Set M1: 79 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	9	97365542	A	C	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs2274689	0.0164	-	-	-	-	-	het	36
2	9	97365542	A	C	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs2274689	0.0164	-	-	-	-	-	hom	1
3	9	97365542	A	C	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs2274689	0.0164	-	-	-	-	-	het	36
4	9	97365542	A	C	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs2274689	0.0164	-	-	-	-	-	hom	1
5	9	97365642	G	A	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs9695	0.56038	A=4436/G=4164;A=2140/G=2266;A=6576/G=6430	-	-	-	-	het	476
6	9	97365642	G	A	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs9695	0.56038	A=4436/G=4164;A=2140/G=2266;A=6576/G=6430	-	-	-	-	hom	276
7	9	97365642	G	A	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs9695	0.56038	A=4436/G=4164;A=2140/G=2266;A=6576/G=6430	-	-	-	-	het	476
8	9	97365642	G	A	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	-	-	3'_UTR	rs9695	0.56038	A=4436/G=4164;A=2140/G=2266;A=6576/G=6430	-	-	-	-	hom	276
9	9	97365720	T	C	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	c.960A>G	p.G320G	syn	rs1769257	0.8586	C=7271/T=1329;C=4243/T=163;C=11514/T=1492	lod=66:417	-	-	HGMD	hom	735
10	9	97365720	T	C	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	c.960A>G	p.G320G	syn	rs1769257	0.8586	C=7271/T=1329;C=4243/T=163;C=11514/T=1492	lod=66:417	-	-	HGMD	het	238
11	9	97365720	T	C	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	c.960A>G	p.G320G	syn	rs1769257	0.8586	C=7271/T=1329;C=4243/T=163;C=11514/T=1492	lod=66:417	-	-	HGMD	hom	735
12	9	97365720	T	C	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	c.960A>G	p.G320G	syn	rs1769257	0.8586	C=7271/T=1329;C=4243/T=163;C=11514/T=1492	lod=66:417	-	-	HGMD	het	238
13	9	97365736	G	T	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	c.944C>A	p.A315E	non-syn	NA	-	-	lod=111:472	TOLERATED	P	-	het	1
14	9	97365736	G	T	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	c.944C>A	p.A315E	non-syn	NA	-	-	lod=111:472	TOLERATED	P	-	het	1
15	9	97365774	G	A	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	c.906C>T	p.A302A	syn	rs28369776	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
16	9	97365774	G	A	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	c.906C>T	p.A302A	syn	rs28369776	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	1
17	9	97365815	T	A	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	c.865A>T	p.M289L	non-syn	rs145771944	0.0089	A=0/T=8600;A=45/T=4361;A=45/T=12961	lod=217:544	DAMAGING	B	-	het	2
18	9	97365815	T	A	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	c.865A>T	p.M289L	non-syn	rs145771944	0.0089	A=0/T=8600;A=45/T=4361;A=45/T=12961	lod=217:544	DAMAGING	B	-	het	2
19	9	97365863	C	G	ENST00000375326	ENSG00000165140	97365415	97402531	ENSP00000364475	FBP1	-1	F16P1_HUMAN	-	-	-9bp 3'_splice_site	rs200948424	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	3
20	9	97365863	C	G	ENST00000415431	ENSG00000165140	97365415	97402531	ENSP00000408025	FBP1	-1	F16P1_HUMAN	-	-	-9bp 3'_splice_site	rs200948424	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	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.

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Transcripts and variants in the surrounding FBP1 9:97365415..97402531 region Gbrowse