| | ACO2 (22q13.2)::ACTB (7p22.1) | ACTB (7p22.1)::ACO2 (22q13.2) | ACTB (7p22.1)::ACTB (7p22.1) |
| |
ACTB (7p22.1)::AGAP1 (2q37.2) | ACTB (7p22.1)::BSG (19p13.3) | ACTB (7p22.1)::CBX5 (12q13.13) |
| |
ACTB (7p22.1)::FMN1 (15q13.3) | ACTB (7p22.1)::GLI1 (12q13.3) | ACTB (7p22.1)::GNAS (20q13.32) |
| |
ACTB (7p22.1)::HERPUD2 (7p14.2) | ACTB (7p22.1)::HIPK2 (7q34) | ACTB (7p22.1)::ISY1-RAB43 (3q21.3) |
| |
ACTB (7p22.1)::LENG8 (19q13.42) | ACTB (7p22.1)::LOC100507412 (-) | ACTB (7p22.1)::NOL4L (20q11.21) |
| |
ACTB (7p22.1)::OSBPL3 (7p15.3) | ACTB (7p22.1)::P4HB (17q25.3) | ACTB (7p22.1)::RELA (11q13.1) |
| |
ACTB (7p22.1)::RPS16 (19q13.2) | ACTB (7p22.1)::SQSTM1 (5q35.3) | ACTB (7p22.1)::SUPV3L1 (10q22.1) |
| |
ACTB (7p22.1)::TANGO2 (22q11.21) | ACTB (7p22.1)::THBS3 (1q22) | ACTB (7p22.1)::UBA1 (Xp11.23) |
| |
APOL1 (22q12.3)::ACTB (7p22.1) | DLG4 (17p13.1)::ACTB (7p22.1) | GLI1 (12q13.3)::ACTB (7p22.1) |
| |
H1F0 (22q13.1)::ACTB (7p22.1) | JPH3 (16q24.2)::ACTB (7p22.1) | LOC100507412 (-)::ACTB (7p22.1) |
| |
MAOA (Xp11.3)::ACTB (7p22.1) | NDUFS6 (5p15.33)::ACTB (7p22.1) | OGT (Xq13.1)::ACTB (7p22.1) |
| |
PITPNA (17p13.3)::ACTB (7p22.1) | SLC34A2 (4p15.2)::ACTB (7p22.1) | SNHG1 (11q12.3)::ACTB (7p22.1) |
| |
SPTLC2 (14q24.3)::ACTB (7p22.1) | TSNARE1 (8q24.3)::ACTB (7p22.1) | VAMP2 (17p13.1)::ACTB (7p22.1) |
| |
| Note | |
| Disease | |
| Prognosis | Benign or low-malignant |
| Cytogenetics | t(7;12)(p22;q13) |
| Hybrid/Mutated Gene | ACTB-GLI1 fusion gene. The breakpoints reported so far have been located to introns 1, 2 or 3 within the ACTB gene, and to introns 5 or 6 or to exon 7 within the GLI1 gene. Reciprocal GLI1-ACTB gene fusions have also been detected. The breakpoints have been located to introns 5 or 7 within the GLI1 gene, and to intron 3 of the ACTB gene. |
| |  |
| |
| Representative G-banded partial karyotype of the t(7;12)(p22;q13). |
| |
| Abnormal Protein | The ACTB-GLI1 fusion protein contains the N-terminal of ACTB and the C-terminal of GLI1, including the DNA-binding zink finger motifs (encoded by exons 7-10) and transactivating motifs (exon 12). |
| Oncogenesis | It is suggested that the strong ACTB promoter causes an overexpression of GLI1 sequences important for transcriptional activation of downstream target genes, akin to the oncogenic mechanisms of the COL1A1-PDGFB fusion gene detected in dermatofibrosarcoma protuberans. |
| | |
| Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). |
| Dahlén A, Mertens F, Mandahl N, Panagopoulos I |
| Biochemical and biophysical research communications. 2004 ; 325 (4) : 1318-1323. |
| PMID 15555571 |
| |
| The human beta-actin multigene family. |
| Kedes L, Ng SY, Lin CS, Gunning P, Eddy R, Shows T, Leavitt J |
| Transactions of the Association of American Physicians. 1985 ; 98 : 42-46. |
| PMID 3842206 |
| |
| Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns. |
| Nakajima-Iijima S, Hamada H, Reddy P, Kakunaga T |
| Proceedings of the National Academy of Sciences of the United States of America. 1985 ; 82 (18) : 6133-6137. |
| PMID 2994062 |
| |
| Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of noncoding regions and chromosomal dispersion of pseudogenes. |
| Ng SY, Gunning P, Eddy R, Ponte P, Leavitt J, Shows T, Kedes L |
| Molecular and cellular biology. 1985 ; 5 (10) : 2720-2732. |
| PMID 3837182 |
| |
| Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. |
| Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP |
| Nature genetics. 1997 ; 15 (1) : 95-98. |
| PMID 8988177 |
| |
| FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. |
| Ueyama H, Inazawa J, Nishino H, Ohkubo I, Miwa T |
| Cytogenetics and cell genetics. 1996 ; 74 (3) : 221-224. |
| PMID 8941379 |
| |
| Mammalian cytoplasmic actins are the products of at least two genes and differ in primary structure in at least 25 identified positions from skeletal muscle actins. |
| Vandekerckhove J, Weber K |
| Proceedings of the National Academy of Sciences of the United States of America. 1978 ; 75 (3) : 1106-1110. |
| PMID 274701 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | ACTB 132 |
| LRG (Locus Reference Genomic) | LRG_132 |
| Cards |
|---|
| Atlas | ACTBID42959ch7p22 |
| Entrez_Gene (NCBI) | ACTB actin beta |
| Aliases | BRWS1; PS1TP5BP1 |
| GeneCards (Weizmann) | ACTB |
| Ensembl hg19 (Hinxton) | ENSG00000075624 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000075624 [Gene_View] ENSG00000075624 [Sequence] chr7:5527148-5530601 [Contig_View] ACTB [Vega] |
| ICGC DataPortal | ENSG00000075624 |
| TCGA cBioPortal | ACTB |
| AceView (NCBI) | ACTB |
| Genatlas (Paris) | ACTB |
| SOURCE (Princeton) | ACTB |
| Genetics Home Reference (NIH) | ACTB |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | ACTB - chr7:5527148-5530601 - 7p22.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | ACTB - 7p22.1 [Description] (hg19-Feb_2009) |
| GoldenPath | ACTB - 7p22.1 [CytoView hg19] ACTB - 7p22.1 [CytoView hg38] |
| ImmunoBase | ENSG00000075624 |
| Genome Data Viewer NCBI | ACTB [Mapview hg19] |
| OMIM | 102630 243310 607371 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK025375 AK058019 AK098751 AK130062 AK130157 |
| RefSeq transcript (Entrez) | NM_001101 |
| Consensus coding sequences : CCDS (NCBI) | ACTB |
| Gene Expression | ACTB [ NCBI-GEO ] ACTB [ EBI - ARRAY_EXPRESS ]
ACTB [ SEEK ] ACTB [ MEM ] |
| Gene Expression Viewer (FireBrowse) | ACTB [ Firebrowse - Broad ] |
| Genevisible | Expression of ACTB in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 60 |
| GTEX Portal (Tissue expression) | ACTB |
| Human Protein Atlas | ENSG00000075624-ACTB [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P60709 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P60709 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P60709 |
| PhosPhoSitePlus | P60709 |
| Domaine pattern : Prosite (Expaxy) | ACTINS_1 (PS00406) ACTINS_2 (PS00432) ACTINS_ACT_LIKE (PS01132) |
| Domains : Interpro (EBI) | Actin Actin/actin-like_CS Actin_CS ATPase_NBD |
| Domain families : Pfam (Sanger) | Actin (PF00022) |
| Domain families : Pfam (NCBI) | pfam00022 |
| Domain families : Smart (EMBL) | ACTIN (SM00268) |
| Conserved Domain (NCBI) | ACTB |
| PDB (RSDB) | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| PDB Europe | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| PDB (PDBSum) | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| PDB (IMB) | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| Structural Biology KnowledgeBase | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| SCOP (Structural Classification of Proteins) | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| CATH (Classification of proteins structures) | 3BYH 3D2U 3J82 3LUE 6ANU 6ICT 6ICV 6LTJ 6MBJ 6MBK 6MBL 6NBW 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 |
| Superfamily | P60709 |
| AlphaFold pdb e-kb | P60709 |
| Human Protein Atlas [tissue] | ENSG00000075624-ACTB [tissue] |
| HPRD | 00032 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P60709 |
| IntAct (EBI) | P60709 |
| Complex Portal (EBI) | P60709 CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant |
| P60709 CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant |
| P60709 CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant |
| P60709 CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant |
| P60709 CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant |
| P60709 CPX-978 NuA4 histone acetyltransferase complex |
| P60709 CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant |
| P60709 CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant |
| P60709 CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant |
| P60709 CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant |
| P60709 CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant |
| P60709 CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant |
| P60709 CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
| P60709 CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant |
| P60709 CPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant |
| P60709 CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant |
| P60709 CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant |
| P60709 CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| P60709 CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant |
| P60709 CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex |
| P60709 CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant |
| P60709 CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| P60709 CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant |
| P60709 CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
| P60709 CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| P60709 CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| P60709 CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant |
| P60709 CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| P60709 CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant |
| P60709 CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| P60709 CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant |
| P60709 CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant |
| P60709 CPX-4084 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant |
| P60709 CPX-4223 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant |
| P60709 CPX-4224 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant |
| P60709 CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant |
| P60709 CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant |
| P60709 CPX-4203 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant |
| P60709 CPX-4206 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant |
| P60709 CPX-4207 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant |
| BioGRID | ACTB |
| STRING (EMBL) | ACTB |
| ZODIAC | ACTB |
| Ontologies - Pathways |
|---|
| QuickGO | P60709 |
| Ontology : AmiGO | regulation of cyclin-dependent protein serine/threonine kinase activity chromatin morphogenesis of a polarized epithelium retina homeostasis structural constituent of cytoskeleton protein binding ATP binding extracellular space nucleus nucleoplasm cytoplasm cytoplasm cytoplasm cytosol cytoskeleton cytoskeleton cytoskeleton actin filament plasma membrane plasma membrane cell-cell junction adherens junction focal adhesion establishment or maintenance of cell polarity axonogenesis actin cytoskeleton membrane membrane protein deubiquitination kinesin binding protein kinase binding protein kinase binding substantia nigra development regulation of transmembrane transporter activity regulation of transmembrane transporter activity lamellipodium axon cortical cytoskeleton Tat protein binding nucleosomal DNA binding vesicle negative regulation of protein binding protein-containing complex protein-containing complex cell junction assembly adherens junction assembly NuA4 histone acetyltransferase complex NuA4 histone acetyltransferase complex maintenance of blood-brain barrier cytoplasmic ribonucleoprotein granule Fc-gamma receptor signaling pathway involved in phagocytosis identical protein binding ATP-dependent chromatin remodeling apical junction complex calyx of Held apical protein localization synapse positive regulation of gene expression, epigenetic ephrin receptor signaling pathway tau protein binding synaptic vesicle endocytosis cell motility cell motility nitric-oxide synthase binding regulation of norepinephrine uptake regulation of norepinephrine uptake positive regulation of norepinephrine uptake membrane organization extracellular exosome tight junction platelet aggregation protein localization to adherens junction blood microparticle cellular response to cytochalasin B dense body Schaffer collateral - CA1 synapse presynapse postsynaptic actin cytoskeleton postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton postsynaptic actin cytoskeleton organization glutamatergic synapse glutamatergic synapse glutamatergic synapse regulation of transepithelial transport regulation of protein localization to plasma membrane ribonucleoprotein complex |
| Ontology : EGO-EBI | regulation of cyclin-dependent protein serine/threonine kinase activity chromatin morphogenesis of a polarized epithelium retina homeostasis structural constituent of cytoskeleton protein binding ATP binding extracellular space nucleus nucleoplasm cytoplasm cytoplasm cytoplasm cytosol cytoskeleton cytoskeleton cytoskeleton actin filament plasma membrane plasma membrane cell-cell junction adherens junction focal adhesion establishment or maintenance of cell polarity axonogenesis actin cytoskeleton membrane membrane protein deubiquitination kinesin binding protein kinase binding protein kinase binding substantia nigra development regulation of transmembrane transporter activity regulation of transmembrane transporter activity lamellipodium axon cortical cytoskeleton Tat protein binding nucleosomal DNA binding vesicle negative regulation of protein binding protein-containing complex protein-containing complex cell junction assembly adherens junction assembly NuA4 histone acetyltransferase complex NuA4 histone acetyltransferase complex maintenance of blood-brain barrier cytoplasmic ribonucleoprotein granule Fc-gamma receptor signaling pathway involved in phagocytosis identical protein binding ATP-dependent chromatin remodeling apical junction complex calyx of Held apical protein localization synapse positive regulation of gene expression, epigenetic ephrin receptor signaling pathway tau protein binding synaptic vesicle endocytosis cell motility cell motility nitric-oxide synthase binding regulation of norepinephrine uptake regulation of norepinephrine uptake positive regulation of norepinephrine uptake membrane organization extracellular exosome tight junction platelet aggregation protein localization to adherens junction blood microparticle cellular response to cytochalasin B dense body Schaffer collateral - CA1 synapse presynapse postsynaptic actin cytoskeleton postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton structural constituent of postsynaptic actin cytoskeleton postsynaptic actin cytoskeleton organization glutamatergic synapse glutamatergic synapse glutamatergic synapse regulation of transepithelial transport regulation of protein localization to plasma membrane ribonucleoprotein complex |
| Pathways : BIOCARTA | Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes] |
| Pathways : KEGG | Rap1 signaling pathway Phagosome Hippo signaling pathway Focal adhesion Adherens junction Tight junction Leukocyte transendothelial migration Regulation of actin cytoskeleton Thyroid hormone signaling pathway Gastric acid secretion Bacterial invasion of epithelial cells Vibrio cholerae infection Pathogenic Escherichia coli infection Shigellosis Salmonella infection Influenza A Proteoglycans in cancer Hypertrophic cardiomyopathy (HCM) Arrhythmogenic right ventricular cardiomyopathy (ARVC) Dilated cardiomyopathy Viral myocarditis |
| REACTOME | P60709 [protein] |
| REACTOME Pathways | R-HSA-983231 [pathway] |
| NDEx Network | ACTB |
| Atlas of Cancer Signalling Network | ACTB |
| Wikipedia pathways | ACTB |
| Orthology - Evolution |
|---|
| OrthoDB | 60 |
| GeneTree (enSembl) | ENSG00000075624 |
| Phylogenetic Trees/Animal Genes : TreeFam | ACTB |
| Homologs : HomoloGene | ACTB |
| Homology/Alignments : Family Browser (UCSC) | ACTB |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | ACO2::ACTB [22q13.2/7p22.1] |
| Fusion : Mitelman | ACTB::GLI1 [7p22.1/12q13.3] |
| Fusion : Mitelman | ACTB::GNAS [7p22.1/20q13.32] |
| Fusion : Mitelman | ACTB::NOL4L [7p22.1/20q11.21] |
| Fusion : Mitelman | APOL1::ACTB [22q12.3/7p22.1] |
| Fusion : Mitelman | H1F0::ACTB [22q13.1/7p22.1] |
| Fusion : Mitelman | NDUFS6::ACTB [5p15.33/7p22.1] |
| Fusion : Mitelman | OGT::ACTB [Xq13.1/7p22.1] |
| Fusion : Mitelman | SLC34A2::ACTB [4p15.2/7p22.1] |
| Fusion : COSMIC | GLI1 [12q13.3] - ACTB [7p22.1] [fusion_1387] [fusion_1388] [fusion_1390] [fusion_1395] |
| Fusion Cancer (Beijing) | DLG4 [17p13.1] - ACTB [7p22.1] [FUSC001350] |
| Fusion : Quiver | ACTB |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | ACTB [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | ACTB |
| dbVar | ACTB |
| ClinVar | ACTB |
| Monarch | ACTB |
| 1000_Genomes | ACTB |
| Exome Variant Server | ACTB |
| GNOMAD Browser | ENSG00000075624 |
| Varsome Browser | ACTB |
| ACMG | ACTB variants |
| Varity | P60709 |
| Genomic Variants (DGV) | ACTB [DGVbeta] |
| DECIPHER | ACTB [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | ACTB |
| Mutations |
|---|
| ICGC Data Portal | ACTB |
| TCGA Data Portal | ACTB |
| Broad Tumor Portal | ACTB |
| OASIS Portal | ACTB [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | ACTB [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | ACTB |
| Mutations and Diseases : HGMD | ACTB |
| intOGen Portal | ACTB |
| LOVD (Leiden Open Variation Database) | [gene] [transcripts] [variants] |
| BioMuta | ACTB |
| DgiDB (Drug Gene Interaction Database) | ACTB |
| DoCM (Curated mutations) | ACTB |
| CIViC (Clinical Interpretations of Variants in Cancer) | ACTB |
| OncoKB | ACTB |
| NCG (London) | ACTB |
| Cancer3D | ACTB |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 102630 243310 607371 |
| Orphanet | 3066 11149 |
| DisGeNET | ACTB |
| Medgen | ACTB |
| Genetic Testing Registry | ACTB
|
| NextProt | P60709 [Medical] |
| GENETests | ACTB |
| Target Validation | ACTB |
| Huge Navigator |
ACTB [HugePedia] |
| ClinGen | ACTB (curated) |
| Clinical trials, drugs, therapy |
|---|
| MyCancerGenome | ACTB |
| Protein Interactions : CTD | ACTB |
| Pharm GKB Gene | PA24457 |
| Pharos | P60709 |
| Clinical trial | ACTB |
| Miscellaneous |
|---|
| canSAR (ICR) | ACTB |
| Harmonizome | ACTB |
| DataMed Index | ACTB |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 499 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| EVEX | ACTB |
