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mutLBSgeneDB |
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| Gene summary for COLEC11 |
 Gene summary |
| Basic gene Info. | Gene symbol | COLEC11 |
| Gene name | collectin sub-family member 11 | |
| Synonyms | 3MC2|CL-K1-I|CL-K1-II|CL-K1-IIa|CL-K1-IIb|CLK1 | |
| Cytomap | UCSC genome browser: 2p25.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001255982.1, NM_001255983.1,NM_001255984.1,NM_001255985.1,NM_001255986.1, NM_001255987.1,NM_001255988.1,NM_001255989.1,NM_024027.4, NM_199235.2,NR_045659.1, | |
| Description | Collectin K1collectin kidney protein 1collectin-11 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612502 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000118004 | ||
| HPRD : 10847 | ||
| Vega : OTTHUMG00000090304 | ||
| Protein | UniProt: Q9BWP8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_COLEC11 | |
| BioGPS: 78989 | ||
| Pathway | NCI Pathway Interaction Database: COLEC11 | |
| KEGG: COLEC11 | ||
| REACTOME: COLEC11 | ||
| Pathway Commons: COLEC11 | ||
| Context | iHOP: COLEC11 | |
| ligand binding site mutation search in PubMed: COLEC11 | ||
| UCL Cancer Institute: COLEC11 | ||
| 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 |
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| Ligand binding site mutations for COLEC11 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F214 | A213T | STAD | 2 | E232 | G231S | STAD | 1 | N252 | G250S | THCA | 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 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 |
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| 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 | N252 | G250S | -1.3438904 | F214 | A213T | -1.0270157 | E232 | G231S | -0.099883425 |
| (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 ID | PDB title | PDB structure | 4YLI | CL-K1 trimer |  |
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| 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) |
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| Phenotype information for COLEC11 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0796279 | Carnevale syndrome | 1 | Biomarker, GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0796032 | Malpuech facial clefting syndrome | 1 | Biomarker |
| umls:C0796059 | Oculopalatoskeletal syndrome | 1 | Biomarker |
| umls:C0549567 | Pigmentation Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of COLEC11 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4yli | A | E232 N252 | CA | CALCIUM(2+) | 4yli | B | E232 N252 | CA | CALCIUM(2+) | 4yli | C | E232 N252 | CA | CALCIUM(2+) | 4yli | D | E232 N252 | CA | CALCIUM(2+) | 4yli | E | E232 N252 | CA | CALCIUM(2+) | 4yli | F | E232 N252 | CA | CALCIUM(2+) | 4ymd | A | E232 N252 | CA | CALCIUM(2+) | 4ymd | B | E232 N252 | CA | CALCIUM(2+) | 4ymd | D | E232 N252 | CA | CALCIUM(2+) | 4ymd | F | E232 N252 | CA | CALCIUM(2+) | 4ymd | C | E232 N252 | CA | CALCIUM(2+) | 4ymd | E | E232 N252 | CA | CALCIUM(2+) | 4ymd | F | F214 | CA | CALCIUM(2+) | 4ymd | E | F214 |
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| Conservation information for LBS of COLEC11 |
| Multiple alignments for Q9BWP8 in multiple species |
| LBS | AA sequence | # species | Species | D207 | FIGINDLEKEG | 3 | Homo sapiens, Gallus gallus, Mus musculus | D207 | YIGINDLEREG | 1 | Danio rerio | D207 | FIGINDLEREG | 1 | Bos taurus | D238 | PNNAYDEEDCV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D238 | PNNAYDDEDCV | 1 | Danio rerio | D241 | AYDEEDCVEMV | 3 | Homo sapiens, Gallus gallus, Mus musculus | D241 | AYDDEDCVEMV | 1 | Danio rerio | D241 | AYDEEDCVELV | 1 | Bos taurus | D253 | SGGWNDVACHI | 2 | Gallus gallus, Mus musculus | D253 | SGGWNDVACHT | 1 | Homo sapiens | D253 | SGEWIDVACQL | 1 | Danio rerio | D253 | SGGWNDVACHL | 1 | Bos taurus | E211 | NDLEKEGAFVY | 2 | Homo sapiens, Mus musculus | E211 | NDLEREGHFVY | 1 | Danio rerio | E211 | NDLEKEGNFVY | 1 | Gallus gallus | E211 | NDLEREGAFVY | 1 | Bos taurus | E232 | KWRSGEPNNAY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | E232 | RWREGEPNNAY | 1 | Danio rerio | E239 | NNAYDEEDCVE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | E239 | NNAYDDEDCVE | 1 | Danio rerio | E240 | NAYDEEDCVEM | 3 | Homo sapiens, Gallus gallus, Mus musculus | E240 | NAYDDEDCVEM | 1 | Danio rerio | E240 | NAYDEEDCVEL | 1 | Bos taurus | F214 | EKEGAFVYSDH | 1 | Homo sapiens | F214 | EREGHFVYVER | 1 | Danio rerio | F214 | EKEGNFVYSDR | 1 | Gallus gallus | F214 | EKEGAFVYSDR | 1 | Mus musculus | F214 | EREGAFVYADR | 1 | Bos taurus | N234 | RSGEPNNAYDE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | N234 | REGEPNNAYDD | 1 | Danio rerio | N235 | SGEPNNAYDEE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | N235 | EGEPNNAYDDE | 1 | Danio rerio | N252 | ASGGWNDVACH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | N252 | SSGEWIDVACQ | 1 | Danio rerio |
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