mutLBSgeneDB |
Gene summary for FHL1 |
Gene summary |
Basic gene Info. | Gene symbol | FHL1 |
Gene name | four and a half LIM domains 1 | |
Synonyms | FHL-1|FHL1A|FHL1B|FLH1A|KYOT|SLIM|SLIM-1|SLIM1|SLIMMER|XMPMA | |
Cytomap | UCSC genome browser: Xq26 | |
Type of gene | protein-coding | |
RefGenes | NM_001159699.1, NM_001159700.1,NM_001159701.1,NM_001159702.2,NM_001159703.1, NM_001159704.1,NM_001167819.1,NM_001449.4,NR_027621.1, | |
Description | LIM protein SLIMMERfour and a half LIM domains protein 1four-and-a-half Lin11, Isl-1 and Mec-3 domains 1skeletal muscle LIM-protein 1 | |
Modification date | 20141219 | |
dbXrefs | MIM : 300163 | |
HGNC : HGNC | ||
Ensembl : ENSG00000022267 | ||
HPRD : 02157 | ||
Vega : OTTHUMG00000022504 | ||
Protein | UniProt: Q13642 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FHL1 | |
BioGPS: 2273 | ||
Pathway | NCI Pathway Interaction Database: FHL1 | |
KEGG: FHL1 | ||
REACTOME: FHL1 | ||
Pathway Commons: FHL1 | ||
Context | iHOP: FHL1 | |
ligand binding site mutation search in PubMed: FHL1 | ||
UCL Cancer Institute: FHL1 | ||
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:0003254 | regulation of membrane depolarization | 18281375 | GO:0010972 | negative regulation of G2/M transition of mitotic cell cycle | 21702045 | GO:0030308 | negative regulation of cell growth | 21702045 | GO:0043268 | positive regulation of potassium ion transport | 18281375 | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 18281375 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 21702045 |
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Ligand binding site mutations for FHL1 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C68 | R67C | COAD | 1 | C40 | N38Y | LUAD | 1 | C104 | G103R | SKCM | 1 | C212 | C212R | STAD | 1 | C191 | T190A | STAD | 1 | C224 | K225N | UCEC | 1 | C150 | V151M | UCEC | 1 | C185 | D184N | UCEC | 1 | C150 | F148L | 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 FHL1 |
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 |
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 | C212 | C212R | -1.5027368 | C185 | D184N | -1.1635372 | C150 | F148L | -1.146983 | C68 | R67C | -0.8571826 | C150 | V151M | -0.81699769 | C191 | T190A | -0.76675254 | C40 | N38Y | -0.64340926 | C224 | K225N | -0.56041967 | C104 | G103R | -0.45996591 |
(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 FHL1 from PDB |
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Differential gene expression and gene-gene network for FHL1 |
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 FHL1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for FHL1 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of FHL1 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 FHL1 |
Multiple alignments for Q13642 in multiple species |
LBS | AA sequence | # species | Species |
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