Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ACTB (Actin, beta)

Written2005-03Anna Dahlén, Fredrik Mertens, Nils Mandahl, Ioannis Panagopoulos
Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden

(Note : for Links provided by Atlas : click)

Identity

Other aliasBeta cytoskeletal actin
Beta actin
HGNC (Hugo) ACTB
LocusID (NCBI) 60
Atlas_Id 42959
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 5527146 and ends at 5530709 bp from pter ( according to hg19-Feb_2009)  [Mapping ACTB.png]
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 Six actin isoforms are known: two sarcomeric (a-skeletal and a-cardiac), two smooth muscle actins (a and g), and two non-muscle, cytoskeletal actins (b and g).

DNA/RNA

 
  Genomic organization of the ACTB gene.
Description Six exons, spans approximately 3.4 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon ATG is located in exon 2, and the stop codon in exon 6.
Transcription mRNA of approximately 1.8 kb.
Pseudogene At least 19 processed, non-expressed, pseudogenes are dispersed throughout the genome.

Protein

Description The open reading frame encodes a 374 amino acid protein, with an estimated molecular weight of approximately 41.7 kDa.
Expression Abundantly expressed in all mammalian and avian non-muscle cells.
Localisation Cytoplasm
Function Component (together with cytoplasmic g actin) of the cytoskeletal microfilaments. Involved in the transport of chromosomes and organelles as well as in cell motility.
Homology The ACTB proteins are evolutionary conserved. Mammalian cytoplasmic actins (actin g and b) are remarkably similar to each other, but differ in at least 25 residues from the muscle actins.

Mutations

Somatic ACTB is interrupted by the t(7;12)(p22;q13) detected in pericytoma with t(7;12).

Implicated in

Note
Disease Pericytoma with t(7;12)
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.
  

Breakpoints

 

Bibliography

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
 

Citation

This paper should be referenced as such :
Dahlén, A ; Mertens, F ; Mandahl, N ; Panagopoulos, I
ACTB (actin, beta)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):127-128.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ACTBID42959ch7p22.html

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 10 ]

Solid Tumors Pericytomt0712ID5192 softissuTumID5042 TT_t0407p15p22ID106445 TT_t0507p15p22ID106798 TT_t0720p22q11ID107495
TT_t0720p22q13ID107496 TT_t0722p22q12ID107508 TT_t0722p22q13ID107510 TT_t0722p22q13ID107511 TT_t0X07q13p22ID108721

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dubowitz syndrome

External links

Nomenclature
HGNC (Hugo)ACTB   132
LRG (Locus Reference Genomic)LRG_132
Cards
AtlasACTBID42959ch7p22
Entrez_Gene (NCBI)ACTB  60  actin beta
AliasesBRWS1; PS1TP5BP1
GeneCards (Weizmann)ACTB
Ensembl hg19 (Hinxton)ENSG00000075624 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075624 [Gene_View]  ENSG00000075624 [Sequence]  chr7:5527146-5530709 [Contig_View]  ACTB [Vega]
ICGC DataPortalENSG00000075624
TCGA cBioPortalACTB
AceView (NCBI)ACTB
Genatlas (Paris)ACTB
WikiGenes60
SOURCE (Princeton)ACTB
Genetics Home Reference (NIH)ACTB
Genomic and cartography
GoldenPath hg38 (UCSC)ACTB  -     chr7:5527146-5530709 -  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTB  -     7p22.1   [Description]    (hg19-Feb_2009)
GoldenPathACTB - 7p22.1 [CytoView hg19]  ACTB - 7p22.1 [CytoView hg38]
ImmunoBaseENSG00000075624
Mapping of homologs : NCBIACTB [Mapview hg19]  ACTB [Mapview hg38]
OMIM102630   243310   607371   
Gene and transcription
Genbank (Entrez)AK025375 AK058019 AK098751 AK130062 AK130157
RefSeq transcript (Entrez)NM_001101
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTB
Cluster EST : UnigeneHs.520640 [ NCBI ]
CGAP (NCI)Hs.520640
Alternative Splicing GalleryENSG00000075624
Gene ExpressionACTB [ NCBI-GEO ]   ACTB [ EBI - ARRAY_EXPRESS ]   ACTB [ SEEK ]   ACTB [ MEM ]
Gene Expression Viewer (FireBrowse)ACTB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60
GTEX Portal (Tissue expression)ACTB
Human Protein AtlasENSG00000075624-ACTB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60709   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60709  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60709
Splice isoforms : SwissVarP60709
PhosPhoSitePlusP60709
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTB
DMDM Disease mutations60
Blocks (Seattle)ACTB
PDB (RSDB)3BYH    3D2U    3J82    3LUE    6ANU   
PDB Europe3BYH    3D2U    3J82    3LUE    6ANU   
PDB (PDBSum)3BYH    3D2U    3J82    3LUE    6ANU   
PDB (IMB)3BYH    3D2U    3J82    3LUE    6ANU   
Structural Biology KnowledgeBase3BYH    3D2U    3J82    3LUE    6ANU   
SCOP (Structural Classification of Proteins)3BYH    3D2U    3J82    3LUE    6ANU   
CATH (Classification of proteins structures)3BYH    3D2U    3J82    3LUE    6ANU   
SuperfamilyP60709
Human Protein Atlas [tissue]ENSG00000075624-ACTB [tissue]
Peptide AtlasP60709
HPRD00032
IPIIPI00021439   IPI00807522   IPI01018925   IPI01015522   IPI00922693   IPI01012766   IPI01019081   IPI00942659   IPI00894365   IPI00893981   IPI00893604   IPI00894523   
Protein Interaction databases
DIP (DOE-UCLA)P60709
IntAct (EBI)P60709
FunCoupENSG00000075624
BioGRIDACTB
STRING (EMBL)ACTB
ZODIACACTB
Ontologies - Pathways
QuickGOP60709
Ontology : AmiGOregulation of cyclin-dependent protein serine/threonine kinase activity  nuclear chromatin  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  retina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytoplasm  cytosol  cytoskeleton  cytoskeleton  cytoskeleton  plasma membrane  plasma membrane  focal adhesion  axonogenesis  actin cytoskeleton  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  axon  cortical cytoskeleton  Tat protein binding  nucleosomal DNA binding  vesicle  negative regulation of protein binding  protein-containing complex  protein-containing complex  cell junction assembly  NuA4 histone acetyltransferase complex  NuA4 histone acetyltransferase complex  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent chromatin remodeling  calyx of Held  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  platelet aggregation  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 protein localization to plasma membrane  ribonucleoprotein complex  
Ontology : EGO-EBIregulation of cyclin-dependent protein serine/threonine kinase activity  nuclear chromatin  RNA polymerase II proximal promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  retina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytoplasm  cytosol  cytoskeleton  cytoskeleton  cytoskeleton  plasma membrane  plasma membrane  focal adhesion  axonogenesis  actin cytoskeleton  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  axon  cortical cytoskeleton  Tat protein binding  nucleosomal DNA binding  vesicle  negative regulation of protein binding  protein-containing complex  protein-containing complex  cell junction assembly  NuA4 histone acetyltransferase complex  NuA4 histone acetyltransferase complex  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent chromatin remodeling  calyx of Held  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  platelet aggregation  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 protein localization to plasma membrane  ribonucleoprotein complex  
Pathways : KEGGRap1 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   
REACTOMEP60709 [protein]
REACTOME PathwaysR-HSA-983231 [pathway]   
NDEx NetworkACTB
Atlas of Cancer Signalling NetworkACTB
Wikipedia pathwaysACTB
Orthology - Evolution
OrthoDB60
GeneTree (enSembl)ENSG00000075624
Phylogenetic Trees/Animal Genes : TreeFamACTB
HOGENOMP60709
Homologs : HomoloGeneACTB
Homology/Alignments : Family Browser (UCSC)ACTB
Gene fusions - Rearrangements
Fusion : MitelmanACO2/ACTB [22q13.2/7p22.1]  [t(7;22)(p22;q13)]  
Fusion : MitelmanACTB/GLI1 [7p22.1/12q13.3]  [t(7;12)(p22;q13)]  
Fusion : MitelmanACTB/GNAS [7p22.1/20q13.32]  [t(7;20)(p22;q13)]  
Fusion : MitelmanACTB/NOL4L [7p22.1/20q11.21]  [t(7;20)(p22;q11)]  
Fusion : MitelmanAPOL1/ACTB [22q12.3/7p22.1]  [t(7;22)(p22;q12)]  
Fusion : MitelmanH1F0/ACTB [22q13.1/7p22.1]  [t(7;22)(p22;q13)]  
Fusion : MitelmanNDUFS6/ACTB [5p15.33/7p22.1]  [t(5;7)(p15;p22)]  
Fusion : MitelmanOGT/ACTB [Xq13.1/7p22.1]  [t(X;7)(q13;p22)]  
Fusion : MitelmanSLC34A2/ACTB [4p15.2/7p22.1]  [t(4;7)(p15;p22)]  
Fusion : COSMICACTB [7p22.1]  -  GLI1 [12q13.3]  [fusion_1377]  [fusion_1378]  [fusion_1379]  [fusion_1380]  [fusion_1384]  [fusion_1389]  [fusion_1391]  
[fusion_1392]  [fusion_1393]  
Fusion : COSMICGLI1 [12q13.3]  -  ACTB [7p22.1]  [fusion_1387]  [fusion_1388]  [fusion_1390]  [fusion_1395]  
Fusion Cancer (Beijing)DLG4 [17p13.1]  -  ACTB [7p22.1]  [FUSC001350]
Fusion : FusionGDB14353    1471    18082    20774    27294    35115    35873    39794    41325    510    511    512    513    514    515   
516    517    518    519    520    521    522    523    524    525    526    527    528    529    530   
531    532    533    534    535    536    537   
Fusion : Fusion_HubAC005258.1--ACTB    AC053503.6--ACTB    ACPP--ACTB    ACTA1--ACTB    ACTA2--ACTB    ACTA2-AS1--ACTB    ACTB--AC120194.1    ACTB--ACACB    ACTB--ACAP3    ACTB--ACO2    ACTB--ACTA2    ACTB--ACTB    ACTB--ACTBP1    ACTB--ACTBP11    ACTB--ACTBP2   
ACTB--ACTBP8    ACTB--ACTBP9    ACTB--ACTG1    ACTB--ACTG1P14    ACTB--ACTG2    ACTB--ACTN1    ACTB--AGAP1    ACTB--AGAP3    ACTB--AHSG    ACTB--ALB    ACTB--ALDOA    ACTB--ALG8    ACTB--AML1    ACTB--AQP3    ACTB--ARF1   
ACTB--ARHGDIA    ACTB--ATP8B4    ACTB--AZU1    ACTB--B2M    ACTB--BSG    ACTB--C16ORF72    ACTB--CALD1    ACTB--CAPN12    ACTB--CBX3    ACTB--CBX5    ACTB--CCNG2    ACTB--CD22    ACTB--CD74    ACTB--CDC5L    ACTB--CELA3A   
ACTB--CENPC    ACTB--CFL1    ACTB--CH17-12M21.1    ACTB--CHI3L1    ACTB--CLPS    ACTB--CLU    ACTB--CNN2    ACTB--COL17A1    ACTB--COL1A1    ACTB--COPA    ACTB--CORO1A    ACTB--CPA1    ACTB--CPA4    ACTB--CSE1L    ACTB--CSH1   
ACTB--CSH2    ACTB--CTSB    ACTB--CXCR4    ACTB--DDX5    ACTB--DES    ACTB--DNAJB4    ACTB--DTX2    ACTB--DYNC1H1    ACTB--EEF1A1    ACTB--EIF4A1    ACTB--EML2    ACTB--ENO1    ACTB--EXD3    ACTB--FAM101A    ACTB--FAM195B   
ACTB--FAM46A    ACTB--FBN1    ACTB--FKBP8    ACTB--FLNA    ACTB--FMN1    ACTB--FN1    ACTB--GAPDH    ACTB--GFAP    ACTB--GLI1    ACTB--GLTSCR2    ACTB--GLUL    ACTB--GNB2L1    ACTB--GPX3    ACTB--HAGH    ACTB--HBA2   
ACTB--HDGF    ACTB--HEBP2    ACTB--HERC2    ACTB--HERPUD2    ACTB--HIPK2    ACTB--HLA-DQB1    ACTB--HLA@    ACTB--HMGB1    ACTB--HMGB2    ACTB--HNRNPK    ACTB--HNRNPU    ACTB--HSPA5    ACTB--HSPA8    ACTB--ICA1L    ACTB--IGF1R   
ACTB--IGF2    ACTB--IGFBP5    ACTB--IGH@    ACTB--IGHG1    ACTB--IGHM    ACTB--IGK@    ACTB--IGKC    ACTB--IGLL5    ACTB--IP6K2    ACTB--IQGAP1    ACTB--IRF3    ACTB--ISY1-RAB43    ACTB--ITGA3    ACTB--ITGA5    ACTB--ITGB2   
ACTB--KIAA0182    ACTB--KLK3    ACTB--KRT13    ACTB--KRT14    ACTB--KRT4    ACTB--KRT5    ACTB--KRT6A    ACTB--LAPTM5    ACTB--LENG8    ACTB--LGALS1    ACTB--LLFOS-48D6.2    ACTB--LOC100507412    ACTB--LOXL2    ACTB--LRP1    ACTB--LYZ   
ACTB--MAP7D1    ACTB--MARCH6    ACTB--MBOAT7    ACTB--MBP    ACTB--MDK    ACTB--MLF1    ACTB--MPO    ACTB--MRFAP1    ACTB--MRPL11    ACTB--MUC7    ACTB--MYH11    ACTB--NAMPT    ACTB--NCOA5    ACTB--NDE1    ACTB--NSMCE4A   
ACTB--NUCB1    ACTB--OACTB    ACTB--OAZ1    ACTB--OSBPL3    ACTB--OXSR1    ACTB--P4HB    ACTB--PA2G4    ACTB--PABPC1    ACTB--PARP9    ACTB--PDGFA    ACTB--PIGR    ACTB--PKM    ACTB--PLEC    ACTB--PMP2    ACTB--PNCK   
ACTB--POTEE    ACTB--POTEF    ACTB--POTEM    ACTB--PRB2    ACTB--PRH1    ACTB--PRH1-PRR4    ACTB--PTBP1    ACTB--PTMA    ACTB--RAB11FIP1    ACTB--RELA    ACTB--RGS3    ACTB--RNF139    ACTB--RNF20    ACTB--RNF216    ACTB--RP11-602M11.3   
ACTB--RP11-809F4.2    ACTB--RP5-972B16.2    ACTB--RPL15    ACTB--RPS16    ACTB--RPS4X    ACTB--S100A11    ACTB--S100A8    ACTB--S100A9    ACTB--SAFB    ACTB--SCN1B    ACTB--SCUBE3    ACTB--SENP3-EIF4A1    ACTB--SEPP1    ACTB--SERPINF1    ACTB--SERPINH1   
ACTB--SF3B1    ACTB--SFTPA1    ACTB--SFTPA2    ACTB--SFTPC    ACTB--SLC16A3    ACTB--SMR3B    ACTB--SNRPD3    ACTB--SNX22    ACTB--SPARC    ACTB--SPINK5    ACTB--SPRR3    ACTB--SPTAN1    ACTB--SQSTM1    ACTB--SRRM2    ACTB--STAMBPL1   
ACTB--STATH    ACTB--SULF1    ACTB--SUPV3L1    ACTB--TAGLN    ACTB--TAPBP    ACTB--TBCA    ACTB--TG    ACTB--TGFBI    ACTB--THBS1    ACTB--THBS3    ACTB--TIMM44    ACTB--TIMP1    ACTB--TKT    ACTB--TM4SF4    ACTB--TMBIM6   
ACTB--TNC    ACTB--TNFSF10    ACTB--TNS1    ACTB--TOMM20    ACTB--TOP1    ACTB--TPM2    ACTB--TPO    ACTB--TRAM1    ACTB--TRIC    ACTB--TRIM25    ACTB--TRIM33    ACTB--UBA1    ACTB--UBC    ACTB--UBTF    ACTB--VIM   
ACTB--XPO1    ACTB--YWHAE    ACTB--YWHAG    ACTB--YWHAZ    ACTB--ZNF224    ACTB--ZNF664    ACTG1--ACTB    AIF1L--ACTB    ALDOA--ACTB    ANKRD27--ACTB    APP--ACTB    ARGLU1--ACTB    ARID2--ACTB    ASH1L--ACTB    AVL9--ACTB   
C1ORF54--ACTB    CCM2--ACTB    CDH5--ACTB    CDKAL1--ACTB    CNN2--ACTB    COA6--ACTB    COL18A1--ACTB    COL1A1--ACTB    CSF1--ACTB    CTBP1--ACTB    CXCR2--ACTB    CXCR4--ACTB    DDIT4--ACTB    DEFA1--ACTB    DEFA1B--ACTB   
DLG4--ACTB    DUSP22--ACTB    EEF2--ACTB    EHBP1--ACTB    EIF1--ACTB    FLNA--ACTB    FN1--ACTB    FTH1--ACTB    GAS6--ACTB    GFAP--ACTB    GIPR--ACTB    GLI--ACTB    GLI1--ACTB    HBA2--ACTB    HEY1--ACTB   
HEYL--ACTB    HLA-B--ACTB    IER2--ACTB    IGHA1--ACTB    IGHG1--ACTB    IGHM--ACTB    IGKC--ACTB    IGLC2--ACTB    IGLC3--ACTB    IRF6--ACTB    JA040725--ACTB    JPH3--ACTB    KAT6A--ACTB    KLF6--ACTB    KRT6A--ACTB   
LDLR--ACTB    LOC100507412--ACTB    LOC283392--ACTB    LRP1--ACTB    LYZ--ACTB    MAFK--ACTB    MAOA--ACTB    MED1--ACTB    MT2A--ACTB    MYH14--ACTB    MYH9--ACTB    MYL12B--ACTB    MYL9--ACTB    MYO10--ACTB    MYZAP--ACTB   
NAMPT--ACTB    NCL--ACTB    NOTCH3--ACTB    NR4A3--ACTB    OAZ1--ACTB    PACS2--ACTB    PCGF2--ACTB    PCSK7--ACTB    PDGFA--ACTB    PITPNA--ACTB    POTEM--ACTB    PPP6R3--ACTB    RPLP2--ACTB    RPS8--ACTB    S100A11--ACTB   
SCP2--ACTB    SDHA--ACTB    SIK1--ACTB    SLC29A4--ACTB    SMR3B--ACTB    SNHG1--ACTB    SOD2--ACTB    SPI1--ACTB    SPTLC2--ACTB    SQSTM1--ACTB    STK38--ACTB    TAGLN--ACTB    TG--ACTB    TGM4--ACTB    TMEM99--ACTB   
TNRC18--ACTB    TPM1--ACTB    TPT1--ACTB    TRIM28--ACTB    TSNARE1--ACTB    TSPAN3--ACTB    UBB--ACTB    UNKL--ACTB    USP11--ACTB    VAMP2--ACTB    VDAC1--ACTB    XAB2--ACTB    ZBTB7C--ACTB   
Fusion : QuiverACTB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTB
dbVarACTB
ClinVarACTB
1000_GenomesACTB 
Exome Variant ServerACTB
ExAC (Exome Aggregation Consortium)ENSG00000075624
GNOMAD BrowserENSG00000075624
Varsome BrowserACTB
Genetic variants : HAPMAP60
Genomic Variants (DGV)ACTB [DGVbeta]
DECIPHERACTB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTB 
Mutations
ICGC Data PortalACTB 
TCGA Data PortalACTB 
Broad Tumor PortalACTB
OASIS PortalACTB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACTB
Mutations and Diseases : HGMDACTB
intOGen PortalACTB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch ACTB
DgiDB (Drug Gene Interaction Database)ACTB
DoCM (Curated mutations)ACTB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTB (select a term)
intoGenACTB
NCG5 (London)ACTB
Cancer3DACTB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102630    243310    607371   
Orphanet3066    11149   
DisGeNETACTB
MedgenACTB
Genetic Testing Registry ACTB
NextProtP60709 [Medical]
TSGene60
GENETestsACTB
Target ValidationACTB
Huge Navigator ACTB [HugePedia]
snp3D : Map Gene to Disease60
BioCentury BCIQACTB
ClinGenACTB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60
Chemical/Pharm GKB GenePA24457
Clinical trialACTB
Miscellaneous
canSAR (ICR)ACTB (select the gene name)
DataMed IndexACTB
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTB
EVEXACTB
GoPubMedACTB
iHOPACTB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 26 18:36:57 CEST 2019
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.