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 COLEC11
Gene summary
Basic gene Info.Gene symbolCOLEC11
Gene namecollectin sub-family member 11
CytomapUCSC genome browser: 2p25.3
Type of geneprotein-coding
DescriptionCollectin K1collectin kidney protein 1collectin-11
Modification date20141207
dbXrefs MIM : 612502
Ensembl : ENSG00000118004
HPRD : 10847
Vega : OTTHUMG00000090304
ProteinUniProt: Q9BWP8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_COLEC11
BioGPS: 78989
PathwayNCI Pathway Interaction Database: COLEC11
Pathway Commons: COLEC11
ContextiHOP: COLEC11
ligand binding site mutation search in PubMed: COLEC11
UCL Cancer Institute: COLEC11
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

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

Ligand binding site mutations for COLEC11

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for COLEC11
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
(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 COLEC11 from PDB
PDB IDPDB titlePDB structure
4YLICL-K1 trimer

Differential gene expression and gene-gene network for COLEC11
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 COLEC11 and the right PPI network was created from samples without mutations in the LBS of COLEC11. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for COLEC11
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0796279Carnevale syndrome1Biomarker, GeneticVariation
umls:C0376634Craniofacial Abnormalities1Biomarker
umls:C0796032Malpuech facial clefting syndrome1Biomarker
umls:C0796059Oculopalatoskeletal syndrome1Biomarker
umls:C0549567Pigmentation Disorders1Biomarker

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

Pharmacological information for COLEC11
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 COLEC11 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)4yliAE232 N252
CACALCIUM(2+)4yliBE232 N252
CACALCIUM(2+)4yliCE232 N252
CACALCIUM(2+)4yliDE232 N252
CACALCIUM(2+)4yliEE232 N252
CACALCIUM(2+)4yliFE232 N252
CACALCIUM(2+)4ymdAE232 N252
CACALCIUM(2+)4ymdBE232 N252
CACALCIUM(2+)4ymdDE232 N252
CACALCIUM(2+)4ymdFE232 N252
CACALCIUM(2+)4ymdCE232 N252
CACALCIUM(2+)4ymdEE232 N252

Conservation information for LBS of COLEC11
Multiple alignments for Q9BWP8 in multiple species
LBSAA sequence# speciesSpecies
D207FIGINDLEKEG3Homo sapiens, Gallus gallus, Mus musculus
D207YIGINDLEREG1Danio rerio
D207FIGINDLEREG1Bos taurus
D238PNNAYDEEDCV4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
D238PNNAYDDEDCV1Danio rerio
D241AYDEEDCVEMV3Homo sapiens, Gallus gallus, Mus musculus
D241AYDDEDCVEMV1Danio rerio
D241AYDEEDCVELV1Bos taurus
D253SGGWNDVACHI2Gallus gallus, Mus musculus
D253SGGWNDVACHT1Homo sapiens
D253SGEWIDVACQL1Danio rerio
D253SGGWNDVACHL1Bos taurus
E211NDLEKEGAFVY2Homo sapiens, Mus musculus
E211NDLEREGHFVY1Danio rerio
E211NDLEKEGNFVY1Gallus gallus
E211NDLEREGAFVY1Bos taurus
E232KWRSGEPNNAY4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
E232RWREGEPNNAY1Danio rerio
E239NNAYDEEDCVE4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
E239NNAYDDEDCVE1Danio rerio
E240NAYDEEDCVEM3Homo sapiens, Gallus gallus, Mus musculus
E240NAYDDEDCVEM1Danio rerio
E240NAYDEEDCVEL1Bos taurus
F214EKEGAFVYSDH1Homo sapiens
F214EREGHFVYVER1Danio rerio
F214EKEGNFVYSDR1Gallus gallus
F214EKEGAFVYSDR1Mus musculus
F214EREGAFVYADR1Bos taurus
N234RSGEPNNAYDE4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
N234REGEPNNAYDD1Danio rerio
N235SGEPNNAYDEE4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
N235EGEPNNAYDDE1Danio rerio
N252ASGGWNDVACH4Homo sapiens, Gallus gallus, Mus musculus, Bos taurus
N252SSGEWIDVACQ1Danio rerio

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