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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 2840

FusionGeneSummary for ARRB1_PICALM

check button Fusion gene summary
Fusion gene informationFusion gene name: ARRB1_PICALM
Fusion gene ID: 2840
HgeneTgene
Gene symbol

ARRB1

PICALM

Gene ID

408

8301

Gene namearrestin beta 1phosphatidylinositol binding clathrin assembly protein
SynonymsARB1|ARR1CALM|CLTH|LAP
Cytomap

11q13.4

11q14.2

Type of geneprotein-codingprotein-coding
Descriptionbeta-arrestin-1arrestin 2non-visual arrestin-2phosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia protein
Modification date2018052220180523
UniProtAcc

P49407

Q13492

Ensembl transtripts involved in fusion geneENST00000420843, ENST00000393505, 
ENST00000360025, 
ENST00000532317, 
ENST00000526033, ENST00000393346, 
ENST00000528398, ENST00000356360, 
ENST00000528411, 
Fusion gene scores* DoF score15 X 6 X 6=5407 X 12 X 4=336
# samples 2114
** MAII scorelog2(21/540*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/336*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARRB1 [Title/Abstract] AND PICALM [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneARRB1

GO:0031397

negative regulation of protein ubiquitination

16378096

HgeneARRB1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

16378096

HgeneARRB1

GO:0032715

negative regulation of interleukin-6 production

16378096

HgeneARRB1

GO:0032717

negative regulation of interleukin-8 production

16378096

HgeneARRB1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

10644702

TgenePICALM

GO:0006898

receptor-mediated endocytosis

10436022

TgenePICALM

GO:0032880

regulation of protein localization

10436022

TgenePICALM

GO:0045893

positive regulation of transcription, DNA-templated

11425879

TgenePICALM

GO:0048261

negative regulation of receptor-mediated endocytosis

10436022


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-S3-A6ZG-01AARRB1chr11

75062632

-PICALMchr11

85726006

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000420843ENST00000532317ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000420843ENST00000526033ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000420843ENST00000393346ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000420843ENST00000528398ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000420843ENST00000356360ARRB1chr11

75062632

-PICALMchr11

85726006

-
5CDS-intronENST00000420843ENST00000528411ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000393505ENST00000532317ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000393505ENST00000526033ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000393505ENST00000393346ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000393505ENST00000528398ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000393505ENST00000356360ARRB1chr11

75062632

-PICALMchr11

85726006

-
5CDS-intronENST00000393505ENST00000528411ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000360025ENST00000532317ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000360025ENST00000526033ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000360025ENST00000393346ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000360025ENST00000528398ARRB1chr11

75062632

-PICALMchr11

85726006

-
Frame-shitENST00000360025ENST00000356360ARRB1chr11

75062632

-PICALMchr11

85726006

-
5CDS-intronENST00000360025ENST00000528411ARRB1chr11

75062632

-PICALMchr11

85726006

-

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FusionProtFeatures for ARRB1_PICALM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARRB1

P49407

PICALM

Q13492

Functions in regulating agonist-mediated G-proteincoupled receptor (GPCR) signaling by mediating both receptordesensitization and resensitization processes. During homologousdesensitization, beta-arrestins bind to the GPRK-phosphorylatedreceptor and sterically preclude its coupling to the cognate G-protein; the binding appears to require additional receptordeterminants exposed only in the active receptor conformation. Thebeta-arrestins target many receptors for internalization by actingas endocytic adapters (CLASPs, clathrin-associated sortingproteins) and recruiting the GPRCs to the adapter protein 2complex 2 (AP-2) in clathrin-coated pits (CCPs). However, theextent of beta-arrestin involvement appears to vary significantlydepending on the receptor, agonist and cell type. Internalizedarrestin-receptor complexes traffic to intracellular endosomes,where they remain uncoupled from G-proteins. Two different modesof arrestin-mediated internalization occur. Class A receptors,like ADRB2, OPRM1, ENDRA, D1AR and ADRA1B dissociate from beta-arrestin at or near the plasma membrane and undergo rapidrecycling. Class B receptors, like AVPR2, AGTR1, NTSR1, TRHR andTACR1 internalize as a complex with arrestin and traffic with itto endosomal vesicles, presumably as desensitized receptors, forextended periods of time. Receptor resensitization then requiresthat receptor-bound arrestin is removed so that the receptor canbe dephosphorylated and returned to the plasma membrane. Involvedin internalization of P2RY4 and UTP-stimulated internalization ofP2RY2. Involved in phosphorylation-dependent internalization ofOPRD1 ands subsequent recycling. Involved in the degradation ofcAMP by recruiting cAMP phosphodiesterases to ligand-activatedreceptors. Beta-arrestins function as multivalent adapter proteinsthat can switch the GPCR from a G-protein signaling mode thattransmits short-lived signals from the plasma membrane via smallmolecule second messengers and ion channels to a beta-arrestinsignaling mode that transmits a distinct set of signals that areinitiated as the receptor internalizes and transits theintracellular compartment. Acts as signaling scaffold for MAPKpathways such as MAPK1/3 (ERK1/2). ERK1/2 activated by the beta-arrestin scaffold is largely excluded from the nucleus andconfined to cytoplasmic locations such as endocytic vesicles, alsocalled beta-arrestin signalosomes. Recruits c-Src/SRC to ADRB2resulting in ERK activation. GPCRs for which the beta-arrestin-mediated signaling relies on both ARRB1 and ARRB2 (codependentregulation) include ADRB2, F2RL1 and PTH1R. For some GPCRs thebeta-arrestin-mediated signaling relies on either ARRB1 or ARRB2and is inhibited by the other respective beta-arrestin form(reciprocal regulation). Inhibits ERK1/2 signaling in AGTR1- andAVPR2-mediated activation (reciprocal regulation). Is required forSP-stimulated endocytosis of NK1R and recruits c-Src/SRC tointernalized NK1R resulting in ERK1/2 activation, which isrequired for the antiapoptotic effects of SP. Is involved inproteinase-activated F2RL1-mediated ERK activity. Acts assignaling scaffold for the AKT1 pathway. Is involved in alpha-thrombin-stimulated AKT1 signaling. Is involved in IGF1-stimulatedAKT1 signaling leading to increased protection from apoptosis.Involved in activation of the p38 MAPK signaling pathway and inactin bundle formation. Involved in F2RL1-mediated cytoskeletalrearrangement and chemotaxis. Involved in AGTR1-mediated stressfiber formation by acting together with GNAQ to activate RHOA.Appears to function as signaling scaffold involved in regulationof MIP-1-beta-stimulated CCR5-dependent chemotaxis. Involved inattenuation of NF-kappa-B-dependent transcription in response toGPCR or cytokine stimulation by interacting with and stabilizingCHUK. May serve as nuclear messenger for GPCRs. Involved in OPRD1-stimulated transcriptional regulation by translocating to CDKN1Band FOS promoter regions and recruiting EP300 resulting inacetylation of histone H4. Involved in regulation of LEF1transcriptional activity via interaction with DVL1 and/or DVL2Also involved in regulation of receptors other than GPCRs.Involved in Toll-like receptor and IL-1 receptor signaling throughthe interaction with TRAF6 which prevents TRAF6 autoubiquitinationand oligomerization required for activation of NF-kappa-B and JUN.Binds phosphoinositides. Binds inositolhexakisphosphate (InsP6)(By similarity). Involved in IL8-mediated granule release inneutrophils. Required for atypical chemokine receptor ACKR2-induced RAC1-LIMK1-PAK1-dependent phosphorylation of cofilin(CFL1) and for the up-regulation of ACKR2 from endosomalcompartment to cell membrane, increasing its efficiency inchemokine uptake and degradation. Involved in the internalizationof the atypical chemokine receptor ACKR3. Negatively regulates theNOTCH signaling pathway by mediating the ubiquitination anddegradation of NOTCH1 by ITCH. Participates to the recruitment ofthe ubiquitin-protein ligase to the receptor (PubMed:23886940).{ECO:0000250, ECO:0000269|PubMed:12464600,ECO:0000269|PubMed:14711824, ECO:0000269|PubMed:15475570,ECO:0000269|PubMed:15611106, ECO:0000269|PubMed:15671180,ECO:0000269|PubMed:15878855, ECO:0000269|PubMed:16144840,ECO:0000269|PubMed:16280323, ECO:0000269|PubMed:16378096,ECO:0000269|PubMed:16492667, ECO:0000269|PubMed:16709866,ECO:0000269|PubMed:18337459, ECO:0000269|PubMed:18419762,ECO:0000269|PubMed:19620252, ECO:0000269|PubMed:19643177,ECO:0000269|PubMed:22457824, ECO:0000269|PubMed:23341447,ECO:0000269|PubMed:23633677, ECO:0000269|PubMed:23886940}. Assembly protein recruiting clathrin and adapter proteincomplex 2 (AP2) to cell membranes at sites of coated-pit formationand clathrin-vesicle assembly. May be required to determine theamount of membrane to be recycled, possibly by regulating the sizeof the clathrin cage. Involved in AP2-dependent clathrin-mediatedendocytosis at the neuromuscular junction.{ECO:0000269|PubMed:10436022}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ARRB1_PICALM


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ARRB1_PICALM


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ARRB1ZBTB43, GNMT, KHK, NOLC1, AP3B1, TCOF1, CHD1, BOP1, ARR3, ARRB2, PES1, DDX27, KPNA3, ZRANB2, RPL7L1, CCL14, JAK1, RTF1, HDGFRP2, CSNK2A1, CMBL, CCR5, MAPK10, DVL2, DVL1, RALGDS, ARF6, CYTH2, OPRD1, CXCR2, ADRB1, CSK, MDM2, NSF, PTHLH, NEDD4, ITCH, CDC42, JUN, SREBF2, USP33, PARK2, HGS, STAM, SLC9A1, MAP3K5, STUB1, PDE4D, MAPK3, MAPK1, GSK3B, IGF1R, SAG, YWHAB, YWHAG, YWHAQ, YWHAH, YWHAE, YWHAZ, RANBP9, STK38, SCYL2, DGKZ, DGKE, DGKG, ROCK1, YES1, ATR, PPM1A, PPM1B, CLTA, CLTC, AP3D1, RAB11FIP5, LRP4, LRP1B, DNM1, RGS3, RAB1A, ANXA2, PTCH2, SDC3, HIST1H1C, HIST1H2BO, HIST2H4A, HIST2H2AB, H3F3B, PRMT5, NPM1, POLR1A, POLR1C, POLR1E, CD3EAP, THRAP3, TMPO, YBX1, ALYREF, NOP10, RBM10, SF3B2, NCL, SNRPD1, SRRM2, HNRNPM, HNRNPK, DKC1, HNRNPA3, EIF4B, EEF1A2, RPL22, RPS3A, RPS17, IGF2BP2, ACTA1, TUBA4A, TUBA3C, TUBA1C, TUBB, VIM, TUBB2A, FLNA, GSN, LIMA1, MPRIP, CALD1, MAP1B, SPTAN1, TPM4, CKAP4, MYH9, MYL12B, KIF26A, MYH1, FASN, PKM, DHRS2, ATP5A1, ATP5B, PFKFB3, P4HB, HSPA8, HSP90AA1, CNGA3, HSPA5, APLP1, HSPA9, BCLAF1, RPS27A, UBB, UBC, UBA52, CPA1, CSN2, WDR77, DGKH, STK38L, MAP3K1, PIK3R2, PIK3C2A, STXBP5, CPNE8, ARHGAP32, G3BP1, S100A9, ZYX, HIST1H2AG, H2AFX, H1FX, XRCC5, POLR2E, BACH2, HNRNPU, HNRNPH1, HNRNPA1, RPL3, RPS2, RPS8, RPL6, RPL7A, EIF3I, TMOD3, CFL1, CTTN, ARPC5, KTN1, TTN, INA, DMD, MYO1C, MYL6, KIF2C, KIF3A, DNAH3, ACACA, HSPA1B, HSPA7, KCTD3, USP24, SPIN1, HDLBP, DPY30, CALM3, PRPF4, POT1, ADRBK1, TRAF6, HCRTR1, GNB1, GNG2, SNCA, SLC9A5, GPR50, C5AR1, ARRDC3, ARRDC4, NFKBIA, YY1, EDNRA, SRC, AXIN1, MAP2K4, AGTR1, AKT1, PDXP, LIMK1, PTAFR, AP2A1, MAP2K3, MAPK14, ARRDC1, NOTCH1, RPL15, BAG1, NEK6, BTK, ADH6, MAPK9, PTGER4, EGFR, CYTH1, DRD4, KLHL12, CUL3, KBTBD8, BRPF1, DOCK4, ALDH4A1, LYRM7, ACIN1, DCAF5, ELMO2PICALMPLCG1, CLTC, ITSN1, AP2A1, HIP1R, LAMTOR3, EEF1A1, SEC24D, DNM2, EGFR, FLOT1, SEC24C, ATP6V1E1, ILF3, HNRNPDL, SH3GLB2, ABCC2, ATP6V1F, CD55, SIRT1, FN1, VCAM1, ITGA4, PELI2, KLHL20, SLC25A41, ITLN1, ATF6B, SLC25A32, SOX2, FAM64A, CYP1A1, HNRNPA1, UNK, NTRK1, C14orf166, CARS, CPPED1, HNRNPD, ILVBL, ITGB1, LPP, PAPOLA, DDX1, EWSR1, FERMT2, FUS, ILK, NPLOC4, PFKM, PTPRF, VCL, PXN, STXBP1, TRIM25, UNC13D, XPO1, AP2B1, AP2M1, CLTA, CLTB, DAB2, EPS15, GAK, MYO6, PIK3C2A, SEC13, CLTCL1, CAPZA2, DBN1, MYH9, LIMA1, GTSE1, ANLN, MYO19, MYO18A, CLINT1, SEC16A, TNRC6A, BMP2K, MICAL3, DENND1A, WNK1, PRRC2B, STON2, FCHO2, MCM2, SNW1, CDC5L, SMURF1, CDH1, STAMBPL1, RALBP1, SNRNP27, DLST


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ARRB1_PICALM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ARRB1_PICALM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARRB1C0023890Liver Cirrhosis1CTD_human
HgeneARRB1C0041696Unipolar Depression1PSYGENET
HgeneARRB1C1269683Major Depressive Disorder1PSYGENET
HgeneARRB1C3178803Social Anhedonia1PSYGENET
TgenePICALMC0002395Alzheimer's Disease2CTD_human