mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 FCN1
Gene summary
Basic gene Info.Gene symbolFCN1
Gene nameficolin (collagen/fibrinogen domain containing) 1
SynonymsFCNM
CytomapUCSC genome browser: 9q34
Type of geneprotein-coding
RefGenesNM_002003.3,
DescriptionM-ficolincollagen/fibrinogen domain-containing protein 1ficolin (collagen/fibrinogen domain-containing) 1ficolin-1ficolin-Aficolin-alpha
Modification date20141207
dbXrefs MIM : 601252
HGNC : HGNC
Ensembl : ENSG00000085265
HPRD : 03153
Vega : OTTHUMG00000020895
ProteinUniProt: O00602
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FCN1
BioGPS: 2219
PathwayNCI Pathway Interaction Database: FCN1
KEGG: FCN1
REACTOME: FCN1
Pathway Commons: FCN1
ContextiHOP: FCN1
ligand binding site mutation search in PubMed: FCN1
UCL Cancer Institute: FCN1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0007186G-protein coupled receptor signaling pathway21037097


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Ligand binding site mutations for FCN1
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
D282A281TCOAD1
S268S268LGBM1
D282D282NSKCM1
F274F274LSKCM1
S268S268LUCEC1
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 FCN1
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
D282A281T-0.84436838
D282D282N-0.53389214
S268S268L-0.27082747
F274F274L-0.096365636
(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 FCN1 from PDB

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Differential gene expression and gene-gene network for FCN1
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 FCN1 and the right PPI network was created from samples without mutations in the LBS of FCN1. 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 FCN1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for FCN1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FCN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)2d39AS268
CACALCIUM(2+)2d39CS268


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Conservation information for LBS of FCN1
Multiple alignments for O00602 in multiple species
LBSAA sequence# speciesSpecies
A301PHESYANGINW1Homo sapiens
A301PHKSYANGVNW1Mus musculus
A301LHKSYANGVNW1Rattus norvegicus
A301PHTSYANGINW1Bos taurus
C283WWYADCHASNL1Homo sapiens
C283WWYSQCHTSNL1Mus musculus
C283WWYSDCHTSNL1Rattus norvegicus
C283WWYHSCHSSNL1Bos taurus
D262STKDQDNDVSS1Homo sapiens
D262STKDQDNDGST1Mus musculus
D262STKDQDNDQGS1Rattus norvegicus
D262STKDRDNDESP1Bos taurus
D264KDQDNDVSSSN1Homo sapiens
D264KDQDNDGSTSS1Mus musculus
D264KDQDNDQGSSN1Rattus norvegicus
D264KDRDNDESPSN1Bos taurus
D282AWWYADCHASN1Homo sapiens
D282AWWYSQCHTSN1Mus musculus
D282AWWYSDCHTSN1Rattus norvegicus
D282AWWYHSCHSSN1Bos taurus
F274NCAEKFQGAWW1Homo sapiens
F274SCAMGYHGAWW1Mus musculus
F274NCAVRYHGAWW1Rattus norvegicus
F274NCAAQFQGAWW1Bos taurus
H284WYADCHASNLN1Homo sapiens
H284WYSQCHTSNLN1Mus musculus
H284WYSDCHTSNLN1Rattus norvegicus
H284WYHSCHSSNLN1Bos taurus
S266QDNDVSSSNCA1Homo sapiens
S266QDNDGSTSSCA1Mus musculus
S266QDNDQGSSNCA1Rattus norvegicus
S266RDNDESPSNCA1Bos taurus
S268NDVSSSNCAEK1Homo sapiens
S268NDGSTSSCAMG1Mus musculus
S268NDQGSSNCAVR1Rattus norvegicus
S268NDESPSNCAAQ1Bos taurus
Y300GPHESYANGIN1Homo sapiens
Y300GPHKSYANGVN1Mus musculus
Y300GLHKSYANGVN1Rattus norvegicus
Y300GPHTSYANGIN1Bos taurus
Y312SAAKGYKYSYK1Homo sapiens
Y312KSWRGYNYSCK1Mus musculus
Y312KSWKGYNYSYK1Rattus norvegicus
Y312KSWGRYNYSYK1Bos taurus


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