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mutLBSgeneDB |
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| Gene summary for ACTB |
 Gene summary |
| Basic gene Info. | Gene symbol | ACTB |
| Gene name | actin, beta | |
| Synonyms | BRWS1|PS1TP5BP1 | |
| Cytomap | UCSC genome browser: 7p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001101.3, | |
| Description | PS1TP5-binding protein 1actin, cytoplasmic 1beta cytoskeletal actin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 102630 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000075624 | ||
| HPRD : 00032 | ||
| Vega : OTTHUMG00000023268 | ||
| Protein | UniProt: P60709 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACTB | |
| BioGPS: 60 | ||
| Pathway | NCI Pathway Interaction Database: ACTB | |
| KEGG: ACTB | ||
| REACTOME: ACTB | ||
| Pathway Commons: ACTB | ||
| Context | iHOP: ACTB | |
| ligand binding site mutation search in PubMed: ACTB | ||
| UCL Cancer Institute: ACTB | ||
| 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:0043044 | ATP-dependent chromatin remodeling | 16217013 |
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| Ligand binding site mutations for ACTB |
| 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 | G158 | G158R | BLCA | 1 | K336 | R335P | BRCA | 1 | K336 | E334K | LUAD | 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 ACTB |
| 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 | K336 | R335P | -1.327272 | K336 | E334K | -0.90512784 | G158 | G158R | -0.12492071 |
| (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 ACTB from PDB |
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| Differential gene expression and gene-gene network for ACTB |
| 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 ACTB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 9 | Biomarker |
| umls:C0007097 | Carcinoma | 4 | Biomarker |
| umls:C0013421 | Dystonia | 1 | Biomarker, GeneticVariation |
| umls:C0003130 | Anoxia | 1 | Biomarker |
| umls:C0009363 | Coloboma | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0013393 | Dysostoses | 1 | Biomarker |
| umls:C0014859 | Esophageal Neoplasms | 1 | Biomarker |
| umls:C0018784 | Hearing Loss, Sensorineural | 1 | Biomarker |
| umls:C0024121 | Lung Neoplasms | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| umls:C0151744 | Myocardial Ischemia | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| umls:C0497552 | Nervous System Malformations | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACTB |
| 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 ACTB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 3j82 | B | G158 K336 | ADP | ADP | 3j82 | C | G158 K336 | ADP | ADP | 3j82 | D | G158 K336 |
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| Conservation information for LBS of ACTB |
| Multiple alignments for P60709 in multiple species |
| LBS | AA sequence | # species | Species | D157 | VMDSGDGVTHT | 7 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | D157 | VLDSGDGVSHT | 2 | Drosophila melanogaster, Drosophila melanogaster | G156 | IVMDSGDGVTH | 7 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | G156 | IVLDSGDGVSH | 2 | Drosophila melanogaster, Drosophila melanogaster | G158 | MDSGDGVTHTV | 7 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | G158 | LDSGDGVSHTV | 2 | Drosophila melanogaster, Drosophila melanogaster | G301 | NTVLSGGTTMY | 7 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | G301 | NIVMSGGTTMY | 2 | Drosophila melanogaster, Drosophila melanogaster | G302 | TVLSGGTTMYP | 7 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | G302 | IVMSGGTTMYP | 2 | Drosophila melanogaster, Drosophila melanogaster | K213 | IVRDIKEKLCY | 9 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis, Drosophila melanogaster, Drosophila melanogaster | K336 | APPERKYSVWI | 9 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis, Drosophila melanogaster, Drosophila melanogaster | M305 | SGGTTMYPGIA | 9 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis, Drosophila melanogaster, Drosophila melanogaster | T303 | VLSGGTTMYPG | 7 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | T303 | VMSGGTTMYPG | 2 | Drosophila melanogaster, Drosophila melanogaster | Y306 | GGTTMYPGIAD | 9 | Homo sapiens, Pan troglodytes, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis, Drosophila melanogaster, Drosophila melanogaster |
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