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Aliases for CFLAR Gene

Aliases for CFLAR Gene

  • CASP8 And FADD Like Apoptosis Regulator 2 3 5
  • Caspase-Like Apoptosis Regulatory Protein 3 4
  • CASP8 And FADD-Like Apoptosis Regulator 2 3
  • Cellular FLICE-Like Inhibitory Protein 3 4
  • FADD-Like Antiapoptotic Molecule 1 3 4
  • MACH-Related Inducer Of Toxicity 3 4
  • Caspase-Eight-Related Protein 3 4
  • Inhibitor Of FLICE 3 4
  • Caspase Homolog 3 4
  • CASP8AP1 3 4
  • FLAME-1 3 4
  • I-FLICE 3 4
  • Casper 3 4
  • C-FLIP 3 4
  • CLARP 3 4
  • CASH 3 4
  • MRIT 3 4
  • Testis Secretory Sperm-Binding Protein Li 233m 3
  • Caspase-Related Inducer Of Apoptosis 3
  • Usurpin Beta 3
  • C-FLIPL 3
  • C-FLIPR 3
  • C-FLIPS 3
  • Usurpin 4
  • FLAME1 3
  • FLAME 3
  • FLIP 3

External Ids for CFLAR Gene

Previous HGNC Symbols for CFLAR Gene

  • CASP8AP1

Previous GeneCards Identifiers for CFLAR Gene

  • GC02P200197
  • GC02P200705
  • GC02P201944
  • GC02P202183
  • GC02P201806
  • GC02P201689
  • GC02P201980
  • GC02P193832

Summaries for CFLAR Gene

Entrez Gene Summary for CFLAR Gene

  • The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]

CIViC summary for CFLAR Gene

GeneCards Summary for CFLAR Gene

CFLAR (CASP8 And FADD Like Apoptosis Regulator) is a Protein Coding gene. Diseases associated with CFLAR include Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1 and Choroid Plexus Papilloma. Among its related pathways are Dimerization of procaspase-8 and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein complex binding and cysteine-type peptidase activity.

UniProtKB/Swiss-Prot for CFLAR Gene

  • Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity.

Gene Wiki entry for CFLAR Gene

Additional gene information for CFLAR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFLAR Gene

Genomics for CFLAR Gene

Regulatory Elements for CFLAR Gene

Enhancers for CFLAR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H201114 1.9 FANTOM5 ENCODE dbSUPER 24.9 +8.1 8112 19 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 ZNF610 PPIL3 ORC2 CLK1 CDK15 CFLAR CASP10 KCTD18 FZD7 CFLAR-AS1 FAM126B
GH02H200372 1.5 Ensembl ENCODE dbSUPER 5.1 -737.5 -737518 12 PKNOX1 ZFP64 FEZF1 ELK1 ZNF143 ATF7 RUNX3 JUNB TSHZ1 REST SPATS2L LOC100130026 CFLAR C2orf69 LOC101927687 RNY4P34 LOC101927741
GH02H201251 1.9 FANTOM5 Ensembl ENCODE dbSUPER 3.9 +142.4 142399 13 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 FOS CASP8 ALS2CR12 STRADB PPIL3 CASP10 CLK1 CFLAR FAM126B
GH02H201239 1.1 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +123.6 123597 1 CASP10 CFLAR CLK1 PPIL3 BZW1 CASP8 FAM126B ALS2CR12
GH02H201089 0.5 ENCODE 12.9 -26.2 -26207 0 JUND TAF1 HNF4A REST YY1 RNU6-312P CFLAR CFLAR-AS1 NIF3L1 PPIL3 LOC105373835 ORC2 ENSG00000273975 RNU6-1206P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFLAR on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CFLAR gene promoter:

Genomic Location for CFLAR Gene

Chromosome:
2
Start:
201,116,104 bp from pter
End:
201,176,687 bp from pter
Size:
60,584 bases
Orientation:
Plus strand

Genomic View for CFLAR Gene

Genes around CFLAR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFLAR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFLAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFLAR Gene

Proteins for CFLAR Gene

  • Protein details for CFLAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15519-CFLAR_HUMAN
    Recommended name:
    CASP8 and FADD-like apoptosis regulator
    Protein Accession:
    O15519
    Secondary Accessions:
    • B4DJE0
    • B7Z9F9
    • O14673
    • O14674
    • O14675
    • O15137
    • O15138
    • O15356
    • O15510
    • O43618
    • O43619
    • O43620
    • O60458
    • O60459
    • Q53TS6
    • Q54AF1
    • Q96TE4
    • Q9UEW1

    Protein attributes for CFLAR Gene

    Size:
    480 amino acids
    Molecular mass:
    55344 Da
    Quaternary structure:
    • TNFRSF6 stimulation triggers recruitment to the death-inducing signaling complex (DISC) formed by TNFRSF6, FADD and caspase-8. A proteolytic fragment (p43) stays associated with the DISC. Also interacts with caspase-10, caspase-3, TRAF1, TRAF2 and Bcl-X(L) (in vitro). Interacts with HBV protein X.

    Three dimensional structures from OCA and Proteopedia for CFLAR Gene

neXtProt entry for CFLAR Gene

Post-translational modifications for CFLAR Gene

  • Proteolytically processed; probably by caspase-8. Processing likely occurs at the DISC and generates subunit p43 and p12.
  • Ubiquitination at posLast=192192
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CFLAR Gene

Domains & Families for CFLAR Gene

Gene Families for CFLAR Gene

Protein Domains for CFLAR Gene

Suggested Antigen Peptide Sequences for CFLAR Gene

Graphical View of Domain Structure for InterPro Entry

O15519

UniProtKB/Swiss-Prot:

CFLAR_HUMAN :
  • The caspase domain lacks the active site residues involved in catalysis.
  • Belongs to the peptidase C14A family.
Domain:
  • The caspase domain lacks the active site residues involved in catalysis.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CFLAR: view

Function for CFLAR Gene

Molecular function for CFLAR Gene

GENATLAS Biochemistry:
caspase eight related,predominantly expressed in skeletal muscle,pancreas,heart,activated by Fas ligand,interacting with FADD and promoting apoptosis
UniProtKB/Swiss-Prot Function:
Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity.
UniProtKB/Swiss-Prot Induction:
Repressed by IL2/interleukin-2 after TCR stimulation, during progression to the S phase of the cell cycle.

Phenotypes From GWAS Catalog for CFLAR Gene

Gene Ontology (GO) - Molecular Function for CFLAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 9208847
GO:0004197 cysteine-type endopeptidase activity IEA --
GO:0005123 death receptor binding IEA --
GO:0005515 protein binding IPI 9208847
GO:0008047 enzyme activator activity IDA 9208847
genes like me logo Genes that share ontologies with CFLAR: view
genes like me logo Genes that share phenotypes with CFLAR: view

Animal Models for CFLAR Gene

MGI Knock Outs for CFLAR:

Animal Model Products

CRISPR Products

miRNA for CFLAR Gene

Clone Products

  • Addgene plasmids for CFLAR
  • Applied Biological Materials Clones for CFLAR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CFLAR Gene

Localization for CFLAR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFLAR gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
mitochondrion 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
  • Plasma membrane (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFLAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18073330
GO:0005829 cytosol TAS --
GO:0031264 death-inducing signaling complex IDA 21803845
GO:0031265 CD95 death-inducing signaling complex IEA --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with CFLAR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CFLAR Gene

Pathways & Interactions for CFLAR Gene

genes like me logo Genes that share pathways with CFLAR: view

SIGNOR curated interactions for CFLAR Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CFLAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process IMP 21737330
GO:0007519 skeletal muscle tissue development ISS --
GO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA --
GO:0010976 positive regulation of neuron projection development IEA --
genes like me logo Genes that share ontologies with CFLAR: view

Drugs & Compounds for CFLAR Gene

(48) Drugs for CFLAR Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cometriq Approved November 2012 Pharma inhibitor, Biomarker RTK, HGFR, VEGFR2, KIT, Flt3, and Tie-2 inhibitor, cMET Inhibitors 0
Nintedanib Approved Pharma inhibitor VEGFR, FGFR, PDGFR, and FLT3 inhibitor, Kinase Inhibitors 121
Dovitinib Investigational Pharma Inhibition, inhibitor Multi-targeted RTK inhibitor, Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 0
Idronoxil Investigational Pharma inhibitor Caspase activator, XIAP inhibitor, FLIP suppressor, and TOPO II inhibitor 0

(24) Additional Compounds for CFLAR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFLAR: view

Transcripts for CFLAR Gene

Unigene Clusters for CFLAR Gene

CASP8 and FADD-like apoptosis regulator:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for CFLAR
  • Applied Biological Materials Clones for CFLAR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CFLAR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - -
SP8: - -
SP9:
SP10: - - - - - - - - - - - -
SP11: - - - - -
SP12: - -
SP13:
SP14: - - -
SP15: - - - -
SP16: - -
SP17: - - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - -
SP20: - - - - - - - - - - - - - -
SP21: - - - - - - - - -
SP22: - - -

ExUns: 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - -
SP10: - -
SP11: - -
SP12: - - - - -
SP13: - - - - -
SP14:
SP15: -
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for CFLAR Gene

GeneLoc Exon Structure for
CFLAR
ECgene alternative splicing isoforms for
CFLAR

Expression for CFLAR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFLAR Gene

mRNA differential expression in normal tissues according to GTEx for CFLAR Gene

This gene is overexpressed in Whole Blood (x7.0).

Protein differential expression in normal tissues from HIPED for CFLAR Gene

This gene is overexpressed in Plasma (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFLAR Gene



Protein tissue co-expression partners for CFLAR Gene

NURSA nuclear receptor signaling pathways regulating expression of CFLAR Gene:

CFLAR

SOURCE GeneReport for Unigene cluster for CFLAR Gene:

Hs.390736

mRNA Expression by UniProt/SwissProt for CFLAR Gene:

O15519-CFLAR_HUMAN
Tissue specificity: Widely expressed. Higher expression in skeletal muscle, pancreas, heart, kidney, placenta, and peripheral blood leukocytes. Also detected in diverse cell lines. Isoform 8 is predominantly expressed in testis and skeletal muscle.

Evidence on tissue expression from TISSUES for CFLAR Gene

  • Nervous system(4.8)
  • Blood(4.7)
  • Heart(4.6)
  • Kidney(4.5)
  • Skin(4.5)
  • Lung(4)
  • Intestine(3.1)
  • Spleen(2.9)
  • Liver(2.8)
  • Bone marrow(2.7)
  • Lymph node(2.7)
  • Muscle(2.7)
  • Pancreas(2.3)
  • Thyroid gland(2.3)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with CFLAR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFLAR Gene

Orthologs for CFLAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFLAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CFLAR 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia CFLAR 33 34
  • 83.47 (n)
cow
(Bos Taurus)
Mammalia CFLAR 33
  • 82.25 (n)
FLIP 34
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cflar 33
  • 76.3 (n)
mouse
(Mus musculus)
Mammalia Cflar 33 16 34
  • 75.72 (n)
Gm9845 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia CFLAR 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CFLAR 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CFLAR 33 34
  • 57.94 (n)
lizard
(Anolis carolinensis)
Reptilia CFLAR 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cflar 33
  • 49.96 (n)
zebrafish
(Danio rerio)
Actinopterygii cflara 33 34
  • 47.58 (n)
cflarb 34
  • 30 (a)
OneToMany
-- 33
Species where no ortholog for CFLAR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFLAR Gene

ENSEMBL:
Gene Tree for CFLAR (if available)
TreeFam:
Gene Tree for CFLAR (if available)

Paralogs for CFLAR Gene

No data available for Paralogs for CFLAR Gene

Variants for CFLAR Gene

Sequence variations from dbSNP and Humsavar for CFLAR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000007160 -- 201,116,081(+) GAAAG(-/AAAA)AAAAA upstream-variant-2KB, utr-variant-5-prime
rs1000008921 -- 201,142,013(+) GCTCA(C/T)GCCTG intron-variant, downstream-variant-500B
rs1000084562 -- 201,133,508(+) CTCTC(C/T)TACTG intron-variant
rs1000192673 -- 201,144,623(+) AGTGG(C/G)AGAAT intron-variant
rs1000277347 -- 201,161,999(+) TACCT(C/T)GGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFLAR Gene

Variant ID Type Subtype PubMed ID
esv3593972 CNV loss 21293372
nsv584160 CNV loss 21841781
nsv954818 CNV duplication 24416366
nsv961546 CNV duplication 23825009

Variation tolerance for CFLAR Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFLAR Gene

Human Gene Mutation Database (HGMD)
CFLAR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFLAR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFLAR Gene

Disorders for CFLAR Gene

MalaCards: The human disease database

(11) MalaCards diseases for CFLAR Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
  • cadasil
choroid plexus papilloma
  • childhood choroid plexus papilloma
actinic keratosis
  • seborrheic keratosis
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
alopecia, androgenetic, 1
  • androgenetic alopecia
- elite association - COSMIC cancer census association via MalaCards
Search CFLAR in MalaCards View complete list of genes associated with diseases

Relevant External Links for CFLAR

Genetic Association Database (GAD)
CFLAR
Human Genome Epidemiology (HuGE) Navigator
CFLAR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFLAR
genes like me logo Genes that share disorders with CFLAR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFLAR Gene

Publications for CFLAR Gene

  1. Inhibition of death receptor signals by cellular FLIP. (PMID: 9217161) Irmler M … Tschopp J (Nature 1997) 2 3 4 22 60
  2. A single nucleotide polymorphism determines protein isoform production of the human c-FLIP protein. (PMID: 19439735) Ueffing N … Schwerk C (Blood 2009) 3 22 45 60
  3. The role of c-FLIP in modulation of CD95-induced apoptosis. (PMID: 9880531) Scaffidi C … Peter ME (The Journal of biological chemistry 1999) 3 4 22 60
  4. Cell cycle-dependent regulation of FLIP levels and susceptibility to Fas-mediated apoptosis. (PMID: 10227994) Algeciras-Schimnich A … Paya CV (Journal of immunology (Baltimore, Md. : 1950) 1999) 3 4 22 60
  5. Casper is a FADD- and caspase-related inducer of apoptosis. (PMID: 9208847) Shu HB … Goeddel DV (Immunity 1997) 2 3 4 60

Products for CFLAR Gene

  • Addgene plasmids for CFLAR

Sources for CFLAR Gene

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