mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

Gene summary for FBP1

Gene summary

Basic gene Info.	Gene symbol	FBP1
	Gene name	fructose-1,6-bisphosphatase 1
	Synonyms	FBP
	Cytomap	UCSC genome browser: 9q22.3
	Type of gene	protein-coding
	RefGenes	NM_000507.3, NM_001127628.1,
	Description	D-fructose-1,6-bisphosphate 1-phosphohydrolase 1FBPase 1fructose-bisphosphatase 1growth-inhibiting protein 17liver FBPase
	Modification date	20141207
dbXrefs	MIM : 611570
	HGNC : HGNC
	Ensembl : ENSG00000165140
	HPRD : 01973
	Vega : OTTHUMG00000020268
Protein	UniProt: P09467 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_FBP1
	BioGPS: 2203
Pathway	NCI Pathway Interaction Database: FBP1
	KEGG: FBP1
	REACTOME: FBP1
	Pathway Commons: FBP1
Context	iHOP: FBP1
	ligand binding site mutation search in PubMed: FBP1
	UCL Cancer Institute: FBP1
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0006002	fructose 6-phosphate metabolic process	16442285
GO:0016311	dephosphorylation	18650089
GO:0030308	negative regulation of cell growth	19881551
GO:0035690	cellular response to drug	16442285
GO:0045820	negative regulation of glycolytic process	19881551
GO:0046580	negative regulation of Ras protein signal transduction	19881551
GO:0051289	protein homotetramerization	16442285
GO:0071286	cellular response to magnesium ion	10222032

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Ligand binding site mutations for FBP1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E30	E30K	COAD	1
K113	R111K	SKCM	1

cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

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Protein structure related information for FBP1

Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
(ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)

: nsSNV at non-LBS

: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.

LBS	AAchange of nsSNV	Relative stability change
E30	E30K	-1.1156266
K113	R111K	-0.88342864

(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for FBP1 from PDB

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Differential gene expression and gene-gene network for FBP1

Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)

* Left PPI network was created from samples with mutations in the LBS of FBP1 and the right PPI network was created from samples without mutations in the LBS of FBP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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Phenotype information for FBP1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0016756	Fructose-1,6-Diphosphatase Deficiency	4	Biomarker, GeneticVariation
umls:C2239176	Carcinoma, Hepatocellular	2	Biomarker
umls:C0009375	Colonic Neoplasms	1	Biomarker
umls:C0030567	Parkinson Disease	1	Biomarker
umls:C0038356	Stomach Neoplasms	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for FBP1

Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Approved\|nutraceutical	DB00131	Adenosine monophosphate	Small molecule
Experimental	DB02778	2,5-Anhydroglucitol-1,6-Biphosphate	Small molecule
Experimental	DB02848	{4-[3-(6,7-Diethoxy-Quinazolin-4-Ylamino)-Phenyl]-Thiazol-2-Yl}-Methanol	Small molecule
Experimental	DB04175	Mdl-29951	Small molecule
Experimental	DB04493	Fructose-6-Phosphate	Small molecule
Investigational	DB05053	MB07803	Small molecule
Experimental	DB07270	N-[7-(3-AMINOPHENYL)-5-METHOXY-1,3-BENZOXAZOL-2-YL]-2,5-DICHLOROBENZENESULFONAMIDE	Small molecule
Experimental	DB07312	2,5-DICHLORO-N-(5-CHLORO-1,3-BENZOXAZOL-2-YL)BENZENESULFONAMIDE	Small molecule
Experimental	DB07321	2,5-DICHLORO-N-[5-METHOXY-7-(6-METHOXYPYRIDIN-3-YL)-1,3-BENZOXAZOL-2-YL]BENZENESULFONAMIDE	Small molecule
Experimental	DB08484	4-AMINO-N-[(2-SULFANYLETHYL)CARBAMOYL]BENZENESULFONAMIDE	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FBP1 go to BioLip

Ligand ID

Ligand short name

Ligand long name

PDB ID

PDB name

mutLBS

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Conservation information for LBS of FBP1

Multiple alignments for P09467 in multiple species

LBS	AA sequence	# species	Species
A25	EEGRKA-----	3	Homo sapiens, Rattus norvegicus, Bos taurus
A25	EQGRKA-----	1	Mus musculus
A25	QEQRRYNQKHK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A25	EHQKQF-----	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A25	DQQHLS-----	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D179	LVLAMDCGVNC	2	Homo sapiens, Mus musculus
D179	LVLAMNCGVNC	1	Rattus norvegicus
D179	LVLAMANGVNC	1	Bos taurus
D179	LLLTTGHRVNG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D179	LVLTLGDGVDG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D179	LVLTTGAGVNG	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E21	RFVMEEGRKA-	2	Homo sapiens, Bos taurus
E21	RFVMEQGRKA-	1	Mus musculus
E21	RFVLEEGRKA-	1	Rattus norvegicus
E21	SFILQEQRRYN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E21	RFIIEHQKQF-	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E21	RFILDQQHLS-	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E30	-RGTGELTQLL	1	Homo sapiens
E30	-QGTGELTQLL	1	Mus musculus
E30	-GGTGEMTQLL	1	Rattus norvegicus
E30	-RGTGEMTQLL	1	Bos taurus
E30	QEASGELSLLL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E30	KNATGDFTLVL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E30	KNATGEFSMLL	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G22	FVMEEGRKA--	2	Homo sapiens, Bos taurus
G22	FVMEQGRKA--	1	Mus musculus
G22	FVLEEGRKA--	1	Rattus norvegicus
G22	FILQEQRRYNQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G22	FIIEHQKQF--	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G22	FILDQQHLS--	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G27	----RGTGELT	1	Homo sapiens
G27	----QGTGELT	1	Mus musculus
G27	----GGTGEMT	1	Rattus norvegicus
G27	----RGTGEMT	1	Bos taurus
G27	CIIQEASGELS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G27	---KNATGDFT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G27	--AKNATGEFS	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G29	--RGTGELTQL	1	Homo sapiens
G29	--QGTGELTQL	1	Mus musculus
G29	--GGTGEMTQL	1	Rattus norvegicus
G29	--RGTGEMTQL	1	Bos taurus
G29	IQEASGELSLL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G29	-KNATGDFTLV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G29	AKNATGEFSML	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K113	PEKRGKYVVCF	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K113	-DSNGSYAVTC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K113	PTNTGSYAVCC	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K113	RNSPGKYAVCC	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L31	RGTGELTQLLN	1	Homo sapiens
L31	QGTGELTQLLN	1	Mus musculus
L31	GGTGEMTQLLN	1	Rattus norvegicus
L31	RGTGEMTQLLN	1	Bos taurus
L31	EASGELSLLLN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L31	NATGDFTLVLN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L31	NATGEFSMLLN	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L35	ELTQLLNSLCT	2	Homo sapiens, Mus musculus
L35	EMTQLLNSLCT	2	Rattus norvegicus, Bos taurus
L35	ELSLLLNSLQF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L35	DFTLVLNALQF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L35	EFSMLLNSLQF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M178	MLVLAMDCGVN	2	Homo sapiens, Mus musculus
M178	MLVLAMNCGVN	1	Rattus norvegicus
M178	MLVLAMANGVN	1	Bos taurus
M178	HLLLTTGHRVN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M178	HLVLTLGDGVD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M178	HLVLTTGAGVN	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M19	LTRFVMEEGRK	1	Homo sapiens
M19	LTRFVMEQGRK	1	Mus musculus
M19	LTRFVLEEGRK	1	Rattus norvegicus
M19	VTRFVMEEGRK	1	Bos taurus
M19	LSSFILQEQRR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M19	LPRFIIEHQKQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M19	LSRFILDQQHL	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R23	VMEEGRKA---	2	Homo sapiens, Bos taurus
R23	VMEQGRKA---	1	Mus musculus
R23	VLEEGRKA---	1	Rattus norvegicus
R23	ILQEQRRYNQK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R23	IIEHQKQF---	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R23	ILDQQHLS---	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R26	-----RGTGEL	1	Homo sapiens
R26	-----QGTGEL	1	Mus musculus
R26	-----GGTGEM	1	Rattus norvegicus
R26	-----RGTGEM	1	Bos taurus
R26	PCIIQEASGEL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R26	----KNATGDF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R26	---AKNATGEF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T28	---RGTGELTQ	1	Homo sapiens
T28	---QGTGELTQ	1	Mus musculus
T28	---GGTGEMTQ	1	Rattus norvegicus
T28	---RGTGEMTQ	1	Bos taurus
T28	IIQEASGELSL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T28	--KNATGDFTL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T28	-AKNATGEFSM	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T32	GTGELTQLLNS	2	Homo sapiens, Mus musculus
T32	GTGEMTQLLNS	2	Rattus norvegicus, Bos taurus
T32	ASGELSLLLNS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T32	ATGDFTLVLNA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T32	ATGEFSMLLNS	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V161	PGRNLVAAGYA	3	Homo sapiens, Rattus norvegicus, Bos taurus
V161	PGRDLVAAGYA	1	Mus musculus
V161	PGKEMVAAGYT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V161	CGKEMVAACYA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V161	CGREMVAACYT	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V18	TLTRFVMEEGR	1	Homo sapiens
V18	TLTRFVMEQGR	1	Mus musculus
V18	TLTRFVLEEGR	1	Rattus norvegicus
V18	TVTRFVMEEGR	1	Bos taurus
V18	TLSSFILQEQR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V18	TLPRFIIEHQK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V18	TLSRFILDQQH	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y114	EKRGKYVVCFD	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y114	DSNGSYAVTCD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y114	TNTGSYAVCCD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y114	NSPGKYAVCCD	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)