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Aliases for ABR Gene

Aliases for ABR Gene

  • Active BCR-Related 2 3 5
  • Active Breakpoint Cluster Region-Related Protein 3
  • Active BCR-Related Gene 2
  • MDB 3

External Ids for ABR Gene

Previous GeneCards Identifiers for ABR Gene

  • GC17M001004
  • GC17M001165
  • GC17M000861
  • GC17M000891
  • GC17M000853
  • GC17M000813
  • GC17M000907

Summaries for ABR Gene

Entrez Gene Summary for ABR Gene

  • This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for ABR Gene

ABR (Active BCR-Related) is a Protein Coding gene. Diseases associated with ABR include Retroperitoneal Neuroblastoma. Among its related pathways are p75 NTR receptor-mediated signalling and RET signaling. GO annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is BCR.

UniProtKB/Swiss-Prot for ABR Gene

  • GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.

Additional gene information for ABR Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABR Gene

Genomics for ABR Gene

Regulatory Elements for ABR Gene

Enhancers for ABR 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
GH17H001106 1.6 FANTOM5 ENCODE dbSUPER 20.3 +119.1 119145 6 ARID4B SIN3A FEZF1 ZNF2 ZNF121 GLIS2 KLF7 FOS SP3 MXD4 ABR WDR81 PRPF8 GEMIN4 SMYD4 ENSG00000235361 ENSG00000262228 INPP5K RPA1 GLOD4
GH17H001122 1.4 Ensembl ENCODE dbSUPER 12.3 +105.5 105459 2.9 HDGF FOXA2 RB1 ARID4B KLF17 ZNF2 RAD21 ZNF121 ZNF143 ZNF391 ENSG00000235361 ABR GEMIN4 WDR81 PRPF8 YWHAE HIC1 SMYD4 ENSG00000278794 LOC105371480
GH17H001094 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +131.9 131915 4.7 KLF1 HLF CEBPB KLF17 ZMYM3 MAX CEBPG EP300 ZNF121 ZFHX2 PITPNA ABR CRK INPP5K ENSG00000278794 MIR3183
GH17H001079 1.5 Ensembl ENCODE dbSUPER 11 +146.9 146870 4.6 FEZF1 ZNF2 GLIS2 FOS SP3 TSHZ1 SMARCB1 ZNF623 ZNF610 SMARCA4 ENSG00000235361 ABR YWHAE MYO1C ENSG00000278794 MIR3183
GH17H001258 1.3 Ensembl ENCODE 10.9 -30.5 -30483 1.8 SIN3A ZNF2 TCF12 ZNF121 GTF3C2 GLIS2 ZNF416 ZNF143 ZNF207 KLF7 PRPF8 SMYD4 WDR81 RPA1 GEMIN4 ENSG00000262228 MYO1C ENSG00000262920 HIC1 TUSC5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABR on UCSC Golden Path with GeneCards custom track

Promoters for ABR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090036 -179 1601 HDGF PKNOX1 TBL1XR1 RB1 SIN3A ZNF76 KLF17 GLIS2 EGR1 ZNF366

Genomic Locations for ABR Gene

Genomic Locations for ABR Gene
225,504 bases
Minus strand

Genomic View for ABR Gene

Genes around ABR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ABR Gene

Proteins for ABR Gene

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

    Protein Symbol:
    Recommended name:
    Active breakpoint cluster region-related protein
    Protein Accession:
    Secondary Accessions:
    • B3KW89
    • B7Z6H7
    • D3DTH3
    • D3DTH4
    • F5H3S2
    • F5H8B3
    • Q13693
    • Q13694

    Protein attributes for ABR Gene

    859 amino acids
    Molecular mass:
    97598 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC37518.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABR Gene


neXtProt entry for ABR Gene

Post-translational modifications for ABR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABR Gene

Domains & Families for ABR Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ABR: view

No data available for UniProtKB/Swiss-Prot for ABR Gene

Function for ABR Gene

Molecular function for ABR Gene

GENATLAS Biochemistry:
BCR-related gene,active
UniProtKB/Swiss-Prot Function:
GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.

Gene Ontology (GO) - Molecular Function for ABR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA,TAS --
GO:0005096 GTPase activator activity IEA,TAS --
genes like me logo Genes that share ontologies with ABR: view
genes like me logo Genes that share phenotypes with ABR: view

Animal Models for ABR Gene

MGI Knock Outs for ABR:

Animal Model Products

miRNA for ABR Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ABR

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABR Gene

Localization for ABR Gene

Subcellular locations from

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 ABR gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IDA,IBA 19946888
genes like me logo Genes that share ontologies with ABR: view

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

Pathways & Interactions for ABR Gene

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

Gene Ontology (GO) - Biological Process for ABR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002692 negative regulation of cellular extravasation IEA --
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction TAS 8262969
GO:0007420 brain development IEA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ABR: view

No data available for SIGNOR curated interactions for ABR Gene

Drugs & Compounds for ABR Gene

(5) Drugs for ABR Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloral hydrate Approved, Illicit, Vet_approved Pharma 17
Menthol Approved Pharma Partial agonist, Activator 2826
Guanosine triphosphate Experimental Pharma 0
Central Nervous System Depressants Pharma 13909
Hypnotics and Sedatives Pharma 2728
genes like me logo Genes that share compounds with ABR: view

Transcripts for ABR Gene

Unigene Clusters for ABR Gene

Active BCR-related:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ABR

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ·
SP1: -
SP4: -
SP6: -
SP9: - -
SP10: - -
SP12: -

ExUns: 21c ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b · 26c
SP2: - -
SP5: -
SP8: -

Relevant External Links for ABR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABR Gene

This gene is overexpressed in Heart (13.8), Bone marrow stromal cell (8.6), Lymph node (7.1), and Brain (6.8).

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

Protein tissue co-expression partners for ABR Gene

NURSA nuclear receptor signaling pathways regulating expression of ABR Gene:


SOURCE GeneReport for Unigene cluster for ABR Gene:


mRNA Expression by UniProt/SwissProt for ABR Gene:

Tissue specificity: Highly enriched in the brain. Much weaker expression in heart, lung and muscle.

Evidence on tissue expression from TISSUES for ABR Gene

  • Nervous system(5)
  • Blood(3.4)
  • Eye(2.8)
  • Skin(2.8)
  • Liver(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ABR: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABR Gene

Orthologs for ABR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABR 34
  • 100 (a)
(Bos Taurus)
Mammalia ABR 33 34
  • 93.67 (n)
(Canis familiaris)
Mammalia ABR 33 34
  • 93.06 (n)
(Rattus norvegicus)
Mammalia Abr 33
  • 91.54 (n)
(Mus musculus)
Mammalia Abr 34 16 33
  • 91.42 (n)
(Ornithorhynchus anatinus)
Mammalia ABR 34
  • 91 (a)
(Monodelphis domestica)
Mammalia ABR 34
  • 66 (a)
(Gallus gallus)
Aves ABR 34
  • 94 (a)
LOC771897 33
  • 85.88 (n)
(Anolis carolinensis)
Reptilia ABR 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abr 33
  • 77.59 (n)
(Danio rerio)
Actinopterygii ABR (2 of 2) 34
  • 81 (a)
ABR (1 of 2) 34
  • 80 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000865 33
  • 52.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP1A 35 33 34
  • 48.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BEM2 34
  • 9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
Species where no ortholog for ABR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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 ABR Gene

Gene Tree for ABR (if available)
Gene Tree for ABR (if available)

Paralogs for ABR Gene

Variants for ABR Gene

Sequence variations from dbSNP and Humsavar for ABR Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000008256 -- 1,181,760(+) AAACG(A/G)GCGTG intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000012169 -- 1,037,709(+) GCCAT(A/G)AATTG intron-variant
rs1000026558 -- 1,171,132(+) TAACG(-/C)CGAAC intron-variant
rs1000034525 -- 1,011,484(+) CCTGG(C/G)GCCCT intron-variant, upstream-variant-2KB
rs1000043328 -- 1,149,593(+) TTGTA(G/T)TTTTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv5416n54 CNV gain+loss 21841781
dgv5417n54 CNV loss 21841781
dgv5420n54 CNV loss 21841781
dgv876e212 CNV loss 25503493
esv1000862 CNV gain 20482838
esv1006959 CNV deletion 20482838
esv1047214 CNV deletion 17803354
esv1166537 CNV deletion 17803354
esv1186091 CNV deletion 17803354
esv1217319 CNV deletion 17803354
esv1222301 CNV deletion 17803354
esv1238522 CNV insertion 17803354
esv1325308 CNV deletion 17803354
esv1484555 CNV deletion 17803354
esv1538715 CNV deletion 17803354
dgv5415n54 CNV gain 21841781
dgv5414n54 CNV loss 21841781
dgv5413n54 CNV loss 21841781
dgv5412n54 CNV loss 21841781
dgv5411n54 CNV gain 21841781
dgv5410n54 CNV loss 21841781
dgv5409n54 CNV gain 21841781
dgv5408n54 CNV loss 21841781
dgv5407n54 CNV gain+loss 21841781
dgv5406n54 CNV loss 21841781
dgv5405n54 CNV gain 21841781
dgv5404n54 CNV loss 21841781
dgv399e201 CNV deletion 23290073
dgv398e201 CNV deletion 23290073
dgv3081n100 CNV gain 25217958
dgv3080n100 CNV gain 25217958
dgv3079n100 CNV gain 25217958
dgv172n21 CNV gain 19592680
dgv169e215 CNV deletion 23714750
dgv1678e59 CNV duplication 20981092
dgv1401n106 CNV insertion 24896259
dgv1400n106 CNV duplication 24896259
dgv1399n106 CNV deletion 24896259
nsv954585 CNV deletion 24416366
nsv954556 CNV deletion 24416366
nsv952096 CNV deletion 24416366
nsv952095 CNV deletion 24416366
nsv9489 CNV gain 18304495
nsv9488 CNV gain+loss 18304495
nsv9487 CNV loss 18304495
nsv833333 CNV loss 17160897
nsv833332 CNV loss 17160897
nsv827852 CNV gain 20364138
nsv821454 CNV duplication 20802225
nsv820394 CNV deletion 20802225
nsv574200 CNV gain 21841781
nsv574199 CNV gain+loss 21841781
nsv574194 CNV loss 21841781
nsv574165 CNV loss 21841781
nsv574158 CNV loss 21841781
nsv574154 CNV gain+loss 21841781
nsv574149 CNV loss 21841781
nsv574148 CNV loss 21841781
nsv574142 CNV gain 21841781
nsv525233 CNV loss 19592680
nsv524326 CNV loss 19592680
nsv515593 CNV loss 19592680
nsv511586 CNV gain 21212237
nsv509644 CNV insertion 20534489
nsv470566 CNV loss 18288195
nsv1942 CNV deletion 18451855
nsv1941 CNV insertion 18451855
nsv1152347 CNV deletion 26484159
nsv1151682 CNV deletion 26484159
nsv1145749 CNV duplication 26484159
nsv1143839 CNV deletion 24896259
nsv1140124 CNV deletion 24896259
nsv1138491 CNV deletion 24896259
nsv1138490 CNV deletion 24896259
nsv1121926 CNV deletion 24896259
nsv1121521 CNV deletion 24896259
nsv111934 CNV deletion 16902084
nsv1118744 CNV deletion 24896259
nsv111824 CNV deletion 16902084
nsv1078410 CNV duplication 25765185
nsv1070793 CNV deletion 25765185
nsv1070792 CNV deletion 25765185
nsv1066149 CNV gain 25217958
nsv1064415 CNV gain 25217958
nsv1059578 CNV gain 25217958
esv996479 CNV deletion 20482838
esv990684 CNV deletion 20482838
esv989468 CNV deletion 20482838
esv988982 CNV loss 20482838
esv3892946 CNV loss 25118596
esv3639672 CNV loss 21293372
esv3639671 CNV gain 21293372
esv3639670 CNV loss 21293372
esv3639669 CNV loss 21293372
esv3639668 CNV loss 21293372
esv3639665 CNV gain 21293372
esv3625 CNV loss 18987735
esv3582466 CNV loss 25503493
esv3582465 CNV loss 25503493
esv3582462 CNV loss 25503493
esv3582461 CNV loss 25503493
esv3572275 CNV gain 25503493
esv3553974 CNV deletion 23714750
esv3553968 CNV deletion 23714750
esv3366205 CNV duplication 20981092
esv3170457 CNV deletion 24192839
esv29732 CNV loss 19812545
esv29687 CNV gain 19812545
esv29084 CNV loss 19812545
esv28651 CNV loss 19812545
esv27906 CNV gain 19812545
esv2758673 CNV gain 17122850
esv27568 CNV gain+loss 19812545
esv2751769 CNV gain 17911159
esv2715436 CNV deletion 23290073
esv2715435 CNV deletion 23290073
esv2715433 CNV deletion 23290073
esv2715430 CNV deletion 23290073
esv2715428 CNV deletion 23290073
esv2715427 CNV deletion 23290073
esv2715426 CNV deletion 23290073
esv2715425 CNV deletion 23290073
esv2715424 CNV deletion 23290073
esv2715423 CNV deletion 23290073
esv2715422 CNV deletion 23290073
esv2715419 CNV deletion 23290073
esv2715417 CNV deletion 23290073
esv2715416 CNV deletion 23290073
esv2715415 CNV deletion 23290073
esv2715414 CNV deletion 23290073
esv2715413 CNV deletion 23290073
esv2715412 CNV deletion 23290073
esv2715411 CNV deletion 23290073
esv2715410 CNV deletion 23290073
esv2715409 CNV deletion 23290073
esv2715408 CNV deletion 23290073
esv2715406 CNV deletion 23290073
esv2715405 CNV deletion 23290073
esv2715404 CNV deletion 23290073
esv27069 CNV gain+loss 19812545
esv2676172 CNV deletion 23128226
esv2675057 CNV deletion 23128226
esv2674650 CNV deletion 23128226
esv2657320 CNV deletion 23128226
esv2620952 CNV deletion 19546169
esv2536141 CNV deletion 19546169
esv2436532 CNV insertion 19546169
esv2422420 CNV duplication 17116639
esv23900 CNV gain 19812545
esv2108115 CNV deletion 18987734
esv1989797 CNV deletion 18987734
esv1716224 CNV deletion 17803354
esv1625487 CNV deletion 17803354
esv1621176 CNV insertion 17803354
esv1591179 CNV deletion 17803354

Variation tolerance for ABR Gene

Residual Variation Intolerance Score: 6.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ABR Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABR Gene - From: DISEASES

Disorder Aliases PubMed IDs
retroperitoneal neuroblastoma
- elite association - COSMIC cancer census association via MalaCards
Search ABR in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABR

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

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

Publications for ABR Gene

  1. Abr and Bcr are multifunctional regulators of the Rho GTP-binding protein family. (PMID: 7479768) Chuang TH … Bokoch GM (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 22 60
  2. The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins. (PMID: 8262969) Tan EC … Lim L (The Journal of biological chemistry 1993) 3 4 22 60
  3. ABR, an active BCR-related gene. (PMID: 2587217) Heisterkamp N … Groffen J (Nucleic acids research 1989) 2 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ABR Gene

  • Addgene plasmids for ABR

Sources for ABR Gene

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