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mutLBSgeneDB |
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| Gene summary for FHL5 |
 Gene summary |
| Basic gene Info. | Gene symbol | FHL5 |
| Gene name | four and a half LIM domains 5 | |
| Synonyms | ACT|dJ393D12.2 | |
| Cytomap | UCSC genome browser: 6q16.1-q16.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001170807.1, NM_020482.4, | |
| Description | 1700027G07RikFHL-5LIM protein ACTactivator of CREM in testisactivator of cAMP-responsive element modulator (CREM) in testisactivator of cAMP-responsive element modulator in testisfour and a half LIM domains protein 5 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605126 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112214 | ||
| HPRD : 05497 | ||
| Vega : OTTHUMG00000015239 | ||
| Protein | UniProt: Q5TD97 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FHL5 | |
| BioGPS: 9457 | ||
| Pathway | NCI Pathway Interaction Database: FHL5 | |
| KEGG: FHL5 | ||
| REACTOME: FHL5 | ||
| Pathway Commons: FHL5 | ||
| Context | iHOP: FHL5 | |
| ligand binding site mutation search in PubMed: FHL5 | ||
| UCL Cancer Institute: FHL5 | ||
| 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 |
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| Ligand binding site mutations for FHL5 |
| 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 | H246 | S247G | COAD | 1 | C225 | K227N | COAD | 1 | C255 | K254Q | COAD | 1 | C252 | N251D | HNSC | 1 | C252 | G253R | KIRC | 1 | C252 | G253W | LUAD | 1 | C273 | F272V | STAD | 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 FHL5 |
| 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 | C252 | G253R | -1.1143856 | C252 | G253W | -1.0939069 | C273 | F272V | -0.90291667 | H246 | S247G | -0.84853404 | C252 | N251D | -0.81038611 | C255 | K254Q | -0.76189734 | C225 | K227N | -0.56385893 |
| (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 FHL5 from PDB |
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| Differential gene expression and gene-gene network for FHL5 |
| 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 FHL5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0149931 | Migraine Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FHL5 |
| 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 FHL5 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 FHL5 |
| Multiple alignments for Q5TD97 in multiple species |
| LBS | AA sequence | # species | Species | C222 | LYAKKCAACTK | 3 | Mus musculus, Rattus norvegicus, Bos taurus | C222 | LYANKCVACSK | 1 | Homo sapiens | C225 | KKCAACTKPIT | 3 | Mus musculus, Rattus norvegicus, Bos taurus | C225 | NKCVACSKPIS | 1 | Homo sapiens | C249 | QWHSECFNCGK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C252 | SECFNCGKCSV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C255 | FNCGKCSVSLV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C273 | NMEILCRKCGS | 2 | Mus musculus, Rattus norvegicus | C273 | NKEIFCQKCGS | 1 | Homo sapiens | C273 | NKEIFCRKCGS | 1 | Bos taurus | C276 | ILCRKCGSGAD | 2 | Mus musculus, Rattus norvegicus | C276 | IFCQKCGSGMD | 1 | Homo sapiens | C276 | IFCRKCGSGVD | 1 | Bos taurus | H246 | QDRQWHSECFN | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H246 | QDSQWHSECFN | 1 | Homo sapiens |
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