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mutLBSgeneDB |
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| Gene summary for IGFBP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | IGFBP1 |
| Gene name | insulin-like growth factor binding protein 1 | |
| Synonyms | AFBP|IBP1|IGF-BP25|PP12|hIGFBP-1 | |
| Cytomap | UCSC genome browser: 7p12.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000596.2, NM_001013029.1, | |
| Description | IBP-1IGF-binding protein 1IGFBP-1alpha-pregnancy-associated endometrial globulinamniotic fluid binding proteinbinding protein-25binding protein-26binding protein-28growth hormone independent-binding proteininsulin-like growth factor-binding prote | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 146730 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000146678 | ||
| HPRD : 00897 | ||
| Vega : OTTHUMG00000152343 | ||
| Protein | UniProt: P08833 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_IGFBP1 | |
| BioGPS: 3484 | ||
| Pathway | NCI Pathway Interaction Database: IGFBP1 | |
| KEGG: IGFBP1 | ||
| REACTOME: IGFBP1 | ||
| Pathway Commons: IGFBP1 | ||
| Context | iHOP: IGFBP1 | |
| ligand binding site mutation search in PubMed: IGFBP1 | ||
| UCL Cancer Institute: IGFBP1 | ||
| 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 |
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| Ligand binding site mutations for IGFBP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R177 | R177Q | UCEC | 2 | R177 | R177Q | COAD | 1 | S214 | S214N | SKCM | 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 IGFBP1 |
| 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 | R177 | R177Q | -0.9691448 | S214 | S214N | -0.52071849 |
| (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 IGFBP1 from PDB |
| PDB ID | PDB title | PDB structure | 1ZT3 | C-terminal domain of Insulin-like Growth Factor Binding Protein-1 isolated from human amniotic fluid |  |
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| Differential gene expression and gene-gene network for IGFBP1 |
| 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 IGFBP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 7 | AlteredExpression, Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 2 | Biomarker |
| umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
| umls:C2609414 | Acute Kidney Injury | 1 | Therapeutic |
| umls:C0009375 | Colonic Neoplasms | 1 | Biomarker |
| umls:C3658338 | Drug-Related Side Effects and Adverse Reactions | 1 | Biomarker |
| umls:C0023892 | Liver Cirrhosis, Biliary | 1 | Biomarker |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | Biomarker |
| umls:C0032927 | Precancerous Conditions | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for IGFBP1 |
| 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 IGFBP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE2 | IRON(2+) | 1zt5 | A | S214 |
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| Conservation information for LBS of IGFBP1 |
| Multiple alignments for P08833 in multiple species |
| LBS | AA sequence | # species | Species | C206 | FYLPNCNKNGF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C217 | YHSKQCETSLD | 2 | Mus musculus, Rattus norvegicus | C217 | YHSRQCETSMD | 1 | Homo sapiens | C217 | YHSKQCETSLE | 1 | Bos taurus | E224 | TSLDGEAGLCW | 2 | Mus musculus, Rattus norvegicus | E224 | TSMDGEAGLCW | 1 | Homo sapiens | E224 | TSLEGEPGLCW | 1 | Bos taurus | F201 | DEIYKFYLPNC | 2 | Mus musculus, Rattus norvegicus | F201 | EEISKFYLPNC | 1 | Homo sapiens | F201 | DKLYKFYLPNC | 1 | Bos taurus | G210 | NCNKNGFYHSK | 3 | Bos taurus, Mus musculus, Rattus norvegicus | G210 | NCNKNGFYHSR | 1 | Homo sapiens | H213 | KNGFYHSKQCE | 3 | Bos taurus, Mus musculus, Rattus norvegicus | H213 | KNGFYHSRQCE | 1 | Homo sapiens | K208 | LPNCNKNGFYH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L180 | PCQRELYKVLE | 2 | Mus musculus, Rattus norvegicus | L180 | PCRIELYRVVE | 1 | Homo sapiens | L180 | PCQRELYKVLD | 1 | Bos taurus | L203 | IYKFYLPNCNK | 2 | Mus musculus, Rattus norvegicus | L203 | ISKFYLPNCNK | 1 | Homo sapiens | L203 | LYKFYLPNCNK | 1 | Bos taurus | N205 | KFYLPNCNKNG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N207 | YLPNCNKNGFY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | P204 | YKFYLPNCNKN | 3 | Bos taurus, Mus musculus, Rattus norvegicus | P204 | SKFYLPNCNKN | 1 | Homo sapiens | R177 | WKEPCQRELYK | 3 | Bos taurus, Mus musculus, Rattus norvegicus | R177 | WKEPCRIELYR | 1 | Homo sapiens | R215 | GFYHSKQCETS | 3 | Bos taurus, Mus musculus, Rattus norvegicus | R215 | GFYHSRQCETS | 1 | Homo sapiens | S214 | NGFYHSKQCET | 3 | Bos taurus, Mus musculus, Rattus norvegicus | S214 | NGFYHSRQCET | 1 | Homo sapiens | Y181 | CQRELYKVLER | 2 | Mus musculus, Rattus norvegicus | Y181 | CRIELYRVVES | 1 | Homo sapiens | Y181 | CQRELYKVLDR | 1 | Bos taurus |
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