mutLBSgeneDB |
Gene summary for CSF1R |
Gene summary |
Basic gene Info. | Gene symbol | CSF1R |
Gene name | colony stimulating factor 1 receptor | |
Synonyms | C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-R | |
Cytomap | UCSC genome browser: 5q32 | |
Type of gene | protein-coding | |
RefGenes | NM_001288705.1, NM_005211.3,NR_109969.1, | |
Description | CD115 antigenCSF-1 receptorFMS proto-oncogeneMcDonough feline sarcoma viral (v-fms) oncogene homologmacrophage colony stimulating factor I receptormacrophage colony-stimulating factor 1 receptorproto-oncogene c-Fms | |
Modification date | 20141222 | |
dbXrefs | MIM : 164770 | |
HGNC : HGNC | ||
Ensembl : ENSG00000182578 | ||
HPRD : 01269 | ||
Vega : OTTHUMG00000130050 | ||
Protein | UniProt: P07333 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CSF1R | |
BioGPS: 1436 | ||
Pathway | NCI Pathway Interaction Database: CSF1R | |
KEGG: CSF1R | ||
REACTOME: CSF1R | ||
Pathway Commons: CSF1R | ||
Context | iHOP: CSF1R | |
ligand binding site mutation search in PubMed: CSF1R | ||
UCL Cancer Institute: CSF1R | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0018108 | peptidyl-tyrosine phosphorylation | 20504948 | GO:0046777 | protein autophosphorylation | 20504948 |
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Ligand binding site mutations for CSF1R |
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 |
LBS | AAchange of nsSNV | Cancer type | # samples | R782 | A781G | LUAD | 1 | P56 | P56R | OV | 1 | W550 | R549C | SKCM | 1 | A614 | V613M | SKCM | 1 | P56 | P56H | UCEC | 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 CSF1R |
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 | P56 | P56H | -1.2949498 | R782 | A781G | -1.1138937 | W550 | R549C | -1.0191354 | P56 | P56R | -1.0042881 | A614 | V613M | -0.89308314 |
(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 CSF1R from PDB |
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Differential gene expression and gene-gene network for CSF1R |
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 CSF1R |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0023467 | Leukemia, Myeloid, Acute | 39 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0027627 | Neoplasm Metastasis | 7 | Biomarker |
umls:C0027651 | Neoplasms | 5 | Biomarker, GeneticVariation |
umls:C0270612 | Leukoencephalopathies | 4 | Biomarker |
umls:C1458155 | Breast Neoplasms | 3 | Biomarker |
umls:C1857300 | Gliosis, Familial Progressive Subcortical | 2 | GeneticVariation |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CSF1R |
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 | DB00619 | Imatinib | Small molecule | |
Approved|investigational | DB01268 | Sunitinib | Small molecule | |
Investigational | DB06080 | ABT-869 | Small molecule | |
Experimental | DB07167 | 5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE | Small molecule | |
Experimental | DB07202 | 6-CHLORO-3-(3-METHYLISOXAZOL-5-YL)-4-PHENYLQUINOLIN-2(1H)-ONE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of CSF1R go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 6C3 | 6-CHLORO-3-(3-METHYLISOXAZOL-5-YL)-4-PHENYLQUINOLIN-2(1H)-ONE | 2i0v | A | A614 | 5CN | 5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE | 2i0y | A | A614 | 5CN | 5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE | 2i1m | A | A614 | 8C5 | 8-CYCLOHEXYL-N-METHOXY-5-OXO-2-{[4-(2-PYRROLIDIN-1-YLETHYL)PHENYL]AMINO}-5,8-DIHYDROPYRIDO[2,3-D]PYRIMIDINE-6-CARBOXAMIDE | 3dpk | A | A614 | KRJ | 4-CYANO-N-(2-CYCLOHEX-1-EN-1-YL-4-PIPERIDIN-4-YLPHENYL)-1H-IMIDAZOLE-2-CARBOXAMIDE | 3krj | A | A614 | LC0 | 3-({4-METHOXY-5-[(4-METHOXYBENZYL)OXY]PYRIDIN-2-YL}METHOXY)-5-(1-METHYL-1H-PYRAZOL-4-YL)PYRAZIN-2-AMINE | 3lco | A | A614 | 64M | 5-[(5-METHOXY-1H-PYRROLO[2,3-B]PYRIDIN-3-YL)METHYL]-N- [4-(TRIFLUOROMETHYL)BENZYL]PYRIDIN-2-AMINE | 4hw7 | A | A614 | STI | IMATINIB | 4r7i | A | A614 | BDY | N~3~-(2,6-DICHLOROBENZYL)-5-(4-{[(2R)-2-(PYRROLIDIN-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}PHENYL)PYRAZINE-2,3-DIAMINE | 3lcd | A | A614 R782 | FUC | ALPHA-L-FUCOPYRANOSE | 4wrl | A | P56 | P31 | 5-[(5-CHLORO-1H-PYRROLO[2,3-B]PYRIDIN-3-YL)METHYL]-N- {[6-(TRIFLUOROMETHYL)PYRIDIN-3-YL]METHYL}PYRIDIN-2- AMINE | 4r7h | A | W550 A614 |
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Conservation information for LBS of CSF1R |
Multiple alignments for P07333 in multiple species |
LBS | AA sequence | # species | Species | A614 | AVLKVAVKMLK | 2 | Homo sapiens, Mus musculus | A614 | NITRVAVKMLK | 1 | Danio rerio | A800 | GDFGLARDIMN | 2 | Homo sapiens, Mus musculus | A800 | CDFGLARDIMN | 1 | Danio rerio | C666 | VITEYCCYGDL | 2 | Homo sapiens, Mus musculus | C666 | VITEYCCHGDL | 1 | Danio rerio | C667 | ITEYCCYGDLL | 2 | Homo sapiens, Mus musculus | C667 | ITEYCCHGDLL | 1 | Danio rerio | C774 | LASKNCIHRDV | 2 | Homo sapiens, Mus musculus | C774 | LAAKNCIHRDV | 1 | Danio rerio | D670 | YCCYGDLLNFL | 2 | Homo sapiens, Mus musculus | D670 | YCCHGDLLNFL | 1 | Danio rerio | D796 | VAKIGDFGLAR | 2 | Homo sapiens, Mus musculus | D796 | VAKICDFGLAR | 1 | Danio rerio | E633 | EALMSELKIMS | 2 | Homo sapiens, Mus musculus | E633 | EALMSELKILS | 1 | Danio rerio | E664 | VLVITEYCCYG | 2 | Homo sapiens, Mus musculus | E664 | VLVITEYCCHG | 1 | Danio rerio | F334 | PGLQGFNWTYL | 1 | Homo sapiens | F334 | PPLTSHKWE-- | 1 | Danio rerio | F334 | PSIQHYNWTYL | 1 | Mus musculus | F797 | AKIGDFGLARD | 2 | Homo sapiens, Mus musculus | F797 | AKICDFGLARD | 1 | Danio rerio | G333 | YPGLQGFNWTY | 1 | Homo sapiens | G333 | YPPLTSHKWE- | 1 | Danio rerio | G333 | YPSIQHYNWTY | 1 | Mus musculus | G589 | FGKTLGAGAFG | 2 | Homo sapiens, Mus musculus | G589 | LGKTLGAGAFG | 1 | Danio rerio | G669 | EYCCYGDLLNF | 2 | Homo sapiens, Mus musculus | G669 | EYCCHGDLLNF | 1 | Danio rerio | G795 | HVAKIGDFGLA | 2 | Homo sapiens, Mus musculus | G795 | RVAKICDFGLA | 1 | Danio rerio | H488 | YECRAHNSVGS | 1 | Homo sapiens | H488 | VVCVAFNLVGQ | 1 | Danio rerio | H488 | YFCKTHNSVGN | 1 | Mus musculus | H57 | GPPSPHWTLYS | 1 | Homo sapiens | H57 | PRLAKHKRYIS | 1 | Danio rerio | H57 | GPISPYWTLDP | 1 | Mus musculus | H776 | SKNCIHRDVAA | 2 | Homo sapiens, Mus musculus | H776 | AKNCIHRDVAA | 1 | Danio rerio | I636 | MSELKIMSHLG | 2 | Homo sapiens, Mus musculus | I636 | MSELKILSHLG | 1 | Danio rerio | I775 | ASKNCIHRDVA | 2 | Homo sapiens, Mus musculus | I775 | AAKNCIHRDVA | 1 | Danio rerio | I794 | GHVAKIGDFGL | 2 | Homo sapiens, Mus musculus | I794 | SRVAKICDFGL | 1 | Danio rerio | K586 | NLQFGKTLGAG | 2 | Homo sapiens, Mus musculus | K586 | KLKLGKTLGAG | 1 | Danio rerio | K616 | LKVAVKMLKST | 2 | Homo sapiens, Mus musculus | K616 | TRVAVKMLKAS | 1 | Danio rerio | L588 | QFGKTLGAGAF | 2 | Homo sapiens, Mus musculus | L588 | KLGKTLGAGAF | 1 | Danio rerio | L640 | KIMSHLGQHEN | 2 | Homo sapiens, Mus musculus | L640 | KILSHLGQHKN | 1 | Danio rerio | L785 | AARNVLLTNGH | 1 | Homo sapiens | L785 | AARNVLLTNSR | 1 | Danio rerio | L785 | AARNVLLTSGH | 1 | Mus musculus | M637 | SELKIMSHLGQ | 2 | Homo sapiens, Mus musculus | M637 | SELKILSHLGQ | 1 | Danio rerio | N428 | GYPQPNVTWLQ | 1 | Homo sapiens | N428 | GYPAPSILWYQ | 1 | Danio rerio | N428 | GYPQPSVTWME | 1 | Mus musculus | N489 | ECRAHNSVGSG | 1 | Homo sapiens | N489 | VCVAFNLVGQG | 1 | Danio rerio | N489 | FCKTHNSVGNS | 1 | Mus musculus | N783 | DVAARNVLLTN | 2 | Homo sapiens, Danio rerio | N783 | DVAARNVLLTS | 1 | Mus musculus | P56 | DGPPSPHWTLY | 1 | Homo sapiens | P56 | LPRLAKHKRYI | 1 | Danio rerio | P56 | DGPISPYWTLD | 1 | Mus musculus | Q426 | ASGYPQPNVTW | 1 | Homo sapiens | Q426 | SYGYPAPSILW | 1 | Danio rerio | Q426 | VSGYPQPSVTW | 1 | Mus musculus | Q77 | -NATFQNTGTY | 1 | Homo sapiens | Q77 | EKTTVDFTGTY | 1 | Danio rerio | Q77 | -NATFKNTGTY | 1 | Mus musculus | R384 | YSFLARNPGGW | 1 | Homo sapiens | R384 | YTLNVKNSMKS | 1 | Danio rerio | R384 | YFLMAQNKAGW | 1 | Mus musculus | R777 | KNCIHRDVAAR | 3 | Homo sapiens, Danio rerio, Mus musculus | R782 | RDVAARNVLLT | 3 | Homo sapiens, Danio rerio, Mus musculus | R801 | DFGLARDIMND | 3 | Homo sapiens, Danio rerio, Mus musculus | T587 | LQFGKTLGAGA | 2 | Homo sapiens, Mus musculus | T587 | LKLGKTLGAGA | 1 | Danio rerio | T663 | PVLVITEYCCY | 2 | Homo sapiens, Mus musculus | T663 | PVLVITEYCCH | 1 | Danio rerio | T75 | N--NATFQNTG | 1 | Homo sapiens | T75 | RVEKTTVDFTG | 1 | Danio rerio | T75 | R--NATFKNTG | 1 | Mus musculus | V596 | GAFGKVVEATA | 3 | Homo sapiens, Danio rerio, Mus musculus | V647 | QHENIVNLLGA | 2 | Homo sapiens, Mus musculus | V647 | QHKNIVNLLGA | 1 | Danio rerio | V661 | GGPVLVITEYC | 3 | Homo sapiens, Danio rerio, Mus musculus | W550 | KYQVRWKIIES | 1 | Homo sapiens | W550 | RYEIRWKIIEA | 1 | Danio rerio | W550 | KYQVRWKIIER | 1 | Mus musculus | Y665 | LVITEYCCYGD | 2 | Homo sapiens, Mus musculus | Y665 | LVITEYCCHGD | 1 | Danio rerio | Y668 | TEYCCYGDLLN | 2 | Homo sapiens, Mus musculus | Y668 | TEYCCHGDLLN | 1 | Danio rerio |
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