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mutLBSgeneDB |
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| Gene summary for AXIN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | AXIN1 |
| Gene name | axin 1 | |
| Synonyms | AXIN|PPP1R49 | |
| Cytomap | UCSC genome browser: 16p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003502.3, NM_181050.2, | |
| Description | axin-1axis inhibition protein 1axis inhibitor 1fused, mouse, homolog ofprotein phosphatase 1, regulatory subunit 49 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603816 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000103126 | ||
| HPRD : 04819 | ||
| Vega : OTTHUMG00000064930 | ||
| Protein | UniProt: O15169 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AXIN1 | |
| BioGPS: 8312 | ||
| Pathway | NCI Pathway Interaction Database: AXIN1 | |
| KEGG: AXIN1 | ||
| REACTOME: AXIN1 | ||
| Pathway Commons: AXIN1 | ||
| Context | iHOP: AXIN1 | |
| ligand binding site mutation search in PubMed: AXIN1 | ||
| UCL Cancer Institute: AXIN1 | ||
| 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 | GO:0001934 | positive regulation of protein phosphorylation | 9601641 | GO:0030178 | negative regulation of Wnt signaling pathway | 10644691 | GO:0032147 | activation of protein kinase activity | 9601641 | GO:0043623 | cellular protein complex assembly | 16601693 | GO:0045732 | positive regulation of protein catabolic process | 9601641 |
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| Ligand binding site mutations for AXIN1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R146 | R146Q | UCEC | 2 | K147 | I149T | BRCA | 1 | K139 | K139N | 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. |
| Clinical information for AXIN1 from My Cancer Genome. |
| Axin 1 (AXIN1) is a gene that encodes a cytoplasmic protein that functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway. The protein also functions in the regulation of apoptotic induction. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame insertions are observed in cancers such as biliary tract cancer, liver cancer, and salivary gland cancer. Related Pathways: β-catenin/Wnt signaling. Modified: December 4, 2015 |
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| Protein structure related information for AXIN1 |
| 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 | K147 | I149T | -1.4248917 | R146 | R146Q | -1.2958121 | K139 | K139N | -1.1861562 |
| (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 AXIN1 from PDB |
| PDB ID | PDB title | PDB structure | 1O9U | GLYCOGEN SYNTHASE KINASE 3 BETA COMPLEXED WITH AXIN PEPTIDE |  |
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| Differential gene expression and gene-gene network for AXIN1 |
| 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 AXIN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 8 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AXIN1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04447 | 1,4-Dithiothreitol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AXIN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of AXIN1 |
| Multiple alignments for O15169 in multiple species |
| LBS | AA sequence | # species | Species | A120 | LDFWFACSGFR | 4 | Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus | A120 | LDFWFACTGFR | 1 | Homo sapiens | A143 | LKLARAIYRKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A143 | LKLAKAIYKKY | 2 | Danio rerio, Gallus gallus | D116 | CADLLDFWFAC | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | D116 | CADMLDFWFAC | 1 | Danio rerio | D94 | LHSLLDDQDGI | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus | F119 | LLDFWFACSGF | 3 | Gallus gallus, Mus musculus, Rattus norvegicus | F119 | LLDFWFACTGF | 1 | Homo sapiens | F119 | MLDFWFACSGF | 1 | Danio rerio | F124 | FACSGFRKLEP | 3 | Gallus gallus, Mus musculus, Rattus norvegicus | F124 | FACTGFRKLEP | 1 | Homo sapiens | F124 | FACSGFRKQEA | 1 | Danio rerio | G123 | WFACSGFRKLE | 3 | Gallus gallus, Mus musculus, Rattus norvegicus | G123 | WFACTGFRKLE | 1 | Homo sapiens | G123 | WFACSGFRKQE | 1 | Danio rerio | I144 | KLARAIYRKYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I144 | KLAKAIYKKYI | 2 | Danio rerio, Gallus gallus | I99 | DDQDGISLFRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I99 | DDQDGIHLFRT | 1 | Danio rerio | I99 | DDQDGINLFRT | 1 | Gallus gallus | K126 | CSGFRKLEPCD | 2 | Mus musculus, Rattus norvegicus | K126 | CTGFRKLEPCD | 1 | Homo sapiens | K126 | CSGFRKQEAND | 1 | Danio rerio | K126 | CSGFRKLEPCV | 1 | Gallus gallus | K139 | EEKRLKLARAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K139 | -EKMLKLAKAI | 1 | Danio rerio | K139 | EEKRLKLAKAI | 1 | Gallus gallus | K147 | KAIYKKYILDN | 2 | Danio rerio, Gallus gallus | K147 | RAIYRKYILDS | 2 | Mus musculus, Rattus norvegicus | K147 | RAIYRKYILDN | 1 | Homo sapiens | L140 | EKRLKLARAIY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L140 | EKMLKLAKAIY | 1 | Danio rerio | L140 | EKRLKLAKAIY | 1 | Gallus gallus | L93 | SLHSLLDDQDG | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus | Q96 | SLLDDQDGISL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q96 | SLLDDQDGIHL | 1 | Danio rerio | Q96 | SLLDDQDGINL | 1 | Gallus gallus | R142 | RLKLARAIYRK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R142 | MLKLAKAIYKK | 1 | Danio rerio | R142 | RLKLAKAIYKK | 1 | Gallus gallus | R146 | ARAIYRKYILD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R146 | AKAIYKKYILD | 2 | Danio rerio, Gallus gallus | T122 | FWFACSGFRKL | 3 | Gallus gallus, Mus musculus, Rattus norvegicus | T122 | FWFACTGFRKL | 1 | Homo sapiens | T122 | FWFACSGFRKQ | 1 | Danio rerio |
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