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mutLBSgeneDB |
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| Gene summary for RFXANK |
 Gene summary |
| Basic gene Info. | Gene symbol | RFXANK |
| Gene name | regulatory factor X-associated ankyrin-containing protein | |
| Synonyms | ANKRA1|BLS|F14150_1|RFX-B | |
| Cytomap | UCSC genome browser: 19p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278727.1, NM_001278728.1,NM_003721.3,NM_134440.2, | |
| Description | DNA-binding protein RFXANKRFX-Bdelta4ankyrin repeat family A protein 1ankyrin repeat-containing regulatory factor X-associated proteinregulatory factor X subunit B | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 603200 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000064490 | ||
| HPRD : 04435 | ||
| Vega : OTTHUMG00000169224 | ||
| Protein | UniProt: O14593 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RFXANK | |
| BioGPS: 8625 | ||
| Pathway | NCI Pathway Interaction Database: RFXANK | |
| KEGG: RFXANK | ||
| REACTOME: RFXANK | ||
| Pathway Commons: RFXANK | ||
| Context | iHOP: RFXANK | |
| ligand binding site mutation search in PubMed: RFXANK | ||
| UCL Cancer Institute: RFXANK | ||
| 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 RFXANK |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E158 | E156Q | BLCA | 1 | A220,S222 | D221N | OV | 1 | A220 | E219K | SKCM | 1 | Y224 | T225I | STAD | 1 | L229 | L229I | UCEC | 1 | A220 | E219K | UCEC | 1 | A133 | A133G | 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 RFXANK |
| 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 | A220 | D221N | -1.1979196 | S222 | D221N | -1.1979196 | L229 | L229I | -0.93360136 | A220 | E219K | -0.85618504 | E158 | E156Q | -0.64468692 | A133 | A133G | -0.59076643 | Y224 | T225I | -0.36545332 |
| (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 RFXANK from PDB |
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| Differential gene expression and gene-gene network for RFXANK |
| 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 RFXANK |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2931418 | Bare lymphocyte syndrome 2 | 4 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RFXANK |
| 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 RFXANK go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (THR,LEU,VAL,SER,MET,PRO,PRO,LEU,PRO,GLY,LEU,ASP,LEU,LYS,GLY,SER) | 3v30 | A | A133 E158 A220 S222 Y224 | III | Peptide ligand (PRO,LEU,TYR,THR,SER,PRO,SER,LEU,PRO,ASN,ILE,THR,LEU,GLY,LEU,PRO) | 3uxg | A | A133 E158 S222 Y224 L229 | III | Peptide ligand (ALA,PHE,VAL,HIS,MET,PRO,THR,LEU,PRO,ASN,LEU,ASP,PHE) | 4qqm | A | A133 E158 Y224 L229 | III | Peptide ligand (ALA,PHE,VAL,HIS,MET,PRO,THR,LEU,PRO,ASN,LEU,ASP,PHE,HIS,LYS,THR) | 4qqm | C | A133 E158 Y224 L229 |
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| Conservation information for LBS of RFXANK |
| Multiple alignments for O14593 in multiple species |
| LBS | AA sequence | # species | Species |
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