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 FURIN
Gene summary
Basic gene Info.Gene symbolFURIN
Gene namefurin (paired basic amino acid cleaving enzyme)
SynonymsFUR|PACE|PCSK3|SPC1
CytomapUCSC genome browser: 15q26.1
Type of geneprotein-coding
RefGenesNM_001289823.1,
NM_001289824.1,NM_002569.3,
DescriptionFES upstream regiondibasic processing enzymefurinfurin, membrane associated receptor proteinpaired basic amino acid residue-cleaving enzymeproprotein convertase subtilisin/kexin type 3
Modification date20141207
dbXrefs MIM : 136950
HGNC : HGNC
Ensembl : ENSG00000140564
HPRD : 00653
Vega : OTTHUMG00000149831
ProteinUniProt: P09958
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FURIN
BioGPS: 5045
PathwayNCI Pathway Interaction Database: FURIN
KEGG: FURIN
REACTOME: FURIN
Pathway Commons: FURIN
ContextiHOP: FURIN
ligand binding site mutation search in PubMed: FURIN
UCL Cancer Institute: FURIN
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006465signal peptide processing16912035
GO:0010951negative regulation of endopeptidase activity10567353
GO:0016485protein processing10526337
GO:0016486peptide hormone processing9242664
GO:0032804negative regulation of low-density lipoprotein particle receptor catabolic process16912035
GO:0032902nerve growth factor production8615794
GO:0032904negative regulation of nerve growth factor production10567353
GO:0032940secretion by cell8615794
GO:0043043peptide biosynthetic process8262946
GO:0052548regulation of endopeptidase activity14744861


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Ligand binding site mutations for FURIN
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H194G195DCOAD1
D258G260VCOAD1
A267R268CCOAD1
V231E230DLUAD1
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 FURIN
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.
LBSAAchange of nsSNVRelative stability change
V231E230D-1.7158588
D258G260V-1.1572762
A267R268C-1.1442536
H194G195D-0.62581577
(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 FURIN from PDB

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Differential gene expression and gene-gene network for FURIN
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 FURIN and the right PPI network was created from samples without mutations in the LBS of FURIN. 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 FURIN
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007097Carcinoma3Biomarker
umls:C0024667Mammary Neoplasms, Animal2Biomarker
umls:C0024668Mammary Neoplasms, Experimental2Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for FURIN
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 statusDrugBank IDNameTypeDrug structure
ExperimentalDB03600Decanoic AcidSmall molecule
InvestigationalDB04951PirfenidoneSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FURIN go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)4omcAD258
CACALCIUM(2+)4omcBD258
CACALCIUM(2+)4omcCD258
CACALCIUM(2+)4omcDD258
CACALCIUM(2+)4omcED258
CACALCIUM(2+)4omcFD258
CACALCIUM(2+)4omdAD258
CACALCIUM(2+)4omdBD258
CACALCIUM(2+)4omdCD258
CACALCIUM(2+)4omdDD258
CACALCIUM(2+)4omdED258
CACALCIUM(2+)4omdFD258
CACALCIUM(2+)4rydAD258
CACALCIUM(2+)4rydBD258
CACALCIUM(2+)4rydCD258
CACALCIUM(2+)4rydDD258
CACALCIUM(2+)4rydED258
CACALCIUM(2+)4rydFD258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4omcAH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4omcBH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4omcCH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4omcDH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4omcEH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4omcFH194 V231 D258
IIIPeptide ligand (HY1,ARG,VAL,ARG,00S)4omdAH194 V231 D258
IIIPeptide ligand (HY1,ARG,VAL,ARG,00S)4omdBH194 V231 D258
IIIPeptide ligand (HY1,ARG,VAL,ARG,00S)4omdCH194 V231 D258
IIIPeptide ligand (HY1,ARG,VAL,ARG,00S)4omdDH194 V231 D258
IIIPeptide ligand (HY1,ARG,VAL,ARG,00S)4omdEH194 V231 D258
IIIPeptide ligand (HY1,ARG,VAL,ARG,00S)4omdFH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4rydBH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4rydEH194 V231 D258
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4rydAH194 V231 D258 A267
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4rydCH194 V231 D258 A267
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4rydDH194 V231 D258 A267
IIIPeptide ligand (2UC,ARG,VAL,ARG,00S)4rydFH194 V231 D258 A267


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Conservation information for LBS of FURIN
Multiple alignments for P09958 in multiple species
LBSAA sequence# speciesSpecies
A267TVDGPARLAEE3Homo sapiens, Mus musculus, Rattus norvegicus
A267TVDGPAKLTRS1Caenorhabditis elegans
A267TVDGPAHLAEE1Bos taurus
A292SIFVWASGNGG5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
D154VSILDDGIEKN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D154VTILDDGLERT1Caenorhabditis elegans
D174PGASFDVNDQD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D174ERASYDVNDRD1Caenorhabditis elegans
D179DVNDQDPDPQP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D179DVNDRDNDPMP1Caenorhabditis elegans
D181NDQDPDPQPRY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D181NDRDNDPMPRY1Caenorhabditis elegans
D191YTQMNDNRHGT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D191YEFSDENRHGT1Caenorhabditis elegans
D233DGEVTDAVEAR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D233DGDVTDAVEAA1Caenorhabditis elegans
D258SWGPEDDGKTV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D258SWGPDDDGRTV1Caenorhabditis elegans
D264DGKTVDGPARL3Homo sapiens, Mus musculus, Rattus norvegicus
D264DGRTVDGPAKL1Caenorhabditis elegans
D264DGKTVDGPAHL1Bos taurus
D306DSCNCDGYTNS5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
E236VTDAVEARSLG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E236VTDAVEAASVG1Caenorhabditis elegans
G255YSASWGPEDDG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G255YSASWGPDDDG1Caenorhabditis elegans
G265GKTVDGPARLA3Homo sapiens, Mus musculus, Rattus norvegicus
G265GRTVDGPAKLT1Caenorhabditis elegans
G265GKTVDGPAHLA1Bos taurus
G294FVWASGNGGRE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G294FVWASGNGGKD1Caenorhabditis elegans
H194MNDNRHGTRCA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H194SDENRHGTRCA1Caenorhabditis elegans
L227GGVRMLDGEVT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L227GGIRMLDGDVT1Caenorhabditis elegans
N192TQMNDNRHGTR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N192EFSDENRHGTR1Caenorhabditis elegans
N295VWASGNGGREH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N295VWASGNGGKDA1Caenorhabditis elegans
P256SASWGPEDDGK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P256SASWGPDDDGR1Caenorhabditis elegans
S253HIYSASWGPED4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S253DIYSASWGPDD1Caenorhabditis elegans
S293IFVWASGNGGR4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S293IFVWASGNGGK1Caenorhabditis elegans
S368SHTGTSASAPL3Homo sapiens, Mus musculus, Rattus norvegicus
S368MHTGTSASAPL1Caenorhabditis elegans
S368SHTGTSAFAPL1Bos taurus
T232LDGEVTDAVEA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T232LDGDVTDAVEA1Caenorhabditis elegans
T309NCDGYTNSIYT5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus
T367ESHTGTSASAP3Homo sapiens, Mus musculus, Rattus norvegicus
T367NMHTGTSASAP1Caenorhabditis elegans
T367ESHTGTSAFAP1Bos taurus
V231MLDGEVTDAVE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V231MLDGDVTDAVE1Caenorhabditis elegans
W254IYSASWGPEDD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
W254IYSASWGPDDD1Caenorhabditis elegans
Y308CNCDGYTNSIY5Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus


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