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mutLBSgeneDB |
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| Gene summary for RUNX1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RUNX1 |
| Gene name | runt-related transcription factor 1 | |
| Synonyms | AML1|AML1-EVI-1|AMLCR1|CBFA2|EVI-1|PEBP2aB | |
| Cytomap | UCSC genome browser: 21q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001001890.2, NM_001122607.1,NM_001754.4, | |
| Description | AML1-EVI-1 fusion proteinCBF-alpha-2PEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2oncogene AML-1polyomav | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 151385 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000159216 | ||
| HPRD : 01043 | ||
| Vega : OTTHUMG00000086299 | ||
| Protein | UniProt: Q01196 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RUNX1 | |
| BioGPS: 861 | ||
| Pathway | NCI Pathway Interaction Database: RUNX1 | |
| KEGG: RUNX1 | ||
| REACTOME: RUNX1 | ||
| Pathway Commons: RUNX1 | ||
| Context | iHOP: RUNX1 | |
| ligand binding site mutation search in PubMed: RUNX1 | ||
| UCL Cancer Institute: RUNX1 | ||
| 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:0030097 | hemopoiesis | 21873977 | GO:0030099 | myeloid cell differentiation | 11742995 | GO:0045893 | positive regulation of transcription, DNA-templated | 10207087 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 10207087 |
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| Ligand binding site mutations for RUNX1 |
| 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 | R139 | G138S | COAD | 3 | D171 | G172R | COAD | 2 | R135 | R135G | LAML | 2 | R135 | L134P | BRCA | 1 | D171 | D171G | BRCA | 1 | R142 | G141R | BRCA | 1 | R174 | R174G | COAD | 1 | K167 | I166V | COAD | 1 | R174 | P173H | COAD | 1 | R135 | R135K | COAD | 1 | D171 | D171G | COAD | 1 | R135 | R135G | COAD | 1 | R139 | G138C | COAD | 1 | R139 | R139L | COAD | 1 | D171 | D171N | LAML | 1 | R135 | R135K | LAML | 1 | R135 | R135S | LAML | 1 | R174 | R174Q | LAML | 1 | D171 | D171N | LUAD | 1 | R135 | D133G | 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 RUNX1 from My Cancer Genome. |
| Runt-related transcription factor 1 (RUNX1; also known as AML1) is a gene that codes for the alpha subunit of the core binding factor protein. This protein is thought to take part in regulating expression of multiple genes involved in normal hematopoiesis (Gene 2013; Kurokawa and Hirai 2003). RUNX1 is involved in translocations observed in hematologic malignancies, including AML, ALL, and myelodysplastic syndromes. Its role in cancer is also being investigated in promyelocytic leukemia, as well as in solid tumors such as endometrial, ovarian, and breast cancer. In addition, germline RUNX1 mutations, deletions, and translocations have been associated with conditions that predispose individuals to myeloid malignancies (Cazzola, Della Porta, and Malcovati 2013; Michaud et al. 2002; NCCN 2014; Song et al. 1999).Strickland, S.A., Kim, A.S. 2014. RUNX1. My Cancer Genomehttps://www.mycancergenome.org/content/gene/runx1/ (Updated September 2014) |
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| Protein structure related information for RUNX1 |
| 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 | R139 | G138C | 0.12634159 | R135 | R135G | -1.7007809 | K167 | I166V | -1.6639722 | R135 | L134P | -1.6408111 | R135 | R135S | -1.5758945 | R174 | P173H | -1.5169345 | R135 | R135K | -1.4618043 | R139 | R139L | -0.6667116 | D171 | G172R | -0.52000296 | D171 | D171N | -0.50734738 | R174 | R174G | -0.49368446 | D171 | D171G | -0.44697345 | R135 | D133G | -0.42126794 | R174 | R174Q | -0.28844358 | R142 | G141R | -0.20636532 | R139 | G138S | -0.052340101 |
| (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 RUNX1 from PDB |
| PDB ID | PDB title | PDB structure | 1CMO | IMMUNOGLOBULIN MOTIF DNA-RECOGNITION AND HETERODIMERIZATION FOR THE PEBP2/CBF RUNT-DOMAIN |  |
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| Differential gene expression and gene-gene network for RUNX1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| RUNX1_COAD_DE |
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| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
| * In COAD | |
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| Phenotype information for RUNX1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023467 | Leukemia, Myeloid, Acute | 379 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0003873 | Arthritis, Rheumatoid | 10 | Biomarker, GeneticVariation |
| umls:C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 10 | Biomarker |
| umls:C1832388 | Platelet Disorder, Familial, with Associated Myeloid Malignancy | 1 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RUNX1 |
| 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 RUNX1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1h9d | A | R135 R142 R174 | NUC | Nucleic Acids | 1h9d | C | R135 R142 R174 | NUC | Nucleic Acids | 1h9d | A | R139 R142 K167 D171 | NUC | Nucleic Acids | 1h9d | C | R139 R142 K167 D171 |
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| Conservation information for LBS of RUNX1 |
| Multiple alignments for Q01196 in multiple species |
| LBS | AA sequence | # species | Species |
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