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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: 530

FusionGeneSummary for ACTB_RNF216

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTB_RNF216
Fusion gene ID: 530
HgeneTgene
Gene symbol

ACTB

RNF216

Gene ID

60

54476

Gene nameactin betaring finger protein 216
SynonymsBRWS1|PS1TP5BP1CAHH|TRIAD3|U7I1|UBCE7IP1|ZIN
Cytomap

7p22.1

7p22.1

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actinE3 ubiquitin-protein ligase RNF216RING-type E3 ubiquitin transferase RNF216triad domain-containing protein 3ubiquitin-conjugating enzyme 7-interacting protein 1zinc finger protein inhibiting NF-kappa-B
Modification date2018052220180522
UniProtAcc

P60709

Q9NWF9

Ensembl transtripts involved in fusion geneENST00000464611, ENST00000331789, 
ENST00000425013, ENST00000389902, 
ENST00000469375, 
Fusion gene scores* DoF score28 X 19 X 14=744812 X 13 X 9=1404
# samples 3721
** MAII scorelog2(37/7448*10)=-4.33125589704248
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/1404*10)=-2.74108170263844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTB [Title/Abstract] AND RNF216 [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
HgeneACTB

GO:0098974

postsynaptic actin cytoskeleton organization

18341992

TgeneRNF216

GO:0032648

regulation of interferon-beta production

19893624

TgeneRNF216

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

19893624

TgeneRNF216

GO:0050691

regulation of defense response to virus by host

19893624

TgeneRNF216

GO:0070936

protein K48-linked ubiquitination

19893624


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
TCGALDBRCATCGA-BH-A18T-01AACTBchr7

5570155

-RNF216chr7

5756397

-
* 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
intron-3CDSENST00000464611ENST00000425013ACTBchr7

5570155

-RNF216chr7

5756397

-
intron-3CDSENST00000464611ENST00000389902ACTBchr7

5570155

-RNF216chr7

5756397

-
intron-intronENST00000464611ENST00000469375ACTBchr7

5570155

-RNF216chr7

5756397

-
5UTR-3CDSENST00000331789ENST00000425013ACTBchr7

5570155

-RNF216chr7

5756397

-
5UTR-3CDSENST00000331789ENST00000389902ACTBchr7

5570155

-RNF216chr7

5756397

-
5UTR-intronENST00000331789ENST00000469375ACTBchr7

5570155

-RNF216chr7

5756397

-

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FusionProtFeatures for ACTB_RNF216


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

P60709

RNF216

Q9NWF9

Isoform 1 acts as an E3 ubiquitin ligase, which acceptsubiquitin from specific E2 ubiquitin-conjugating enzymes, and thentransfers it to substrates promoting their degradation by theproteasome. Promotes degradation of TRAF3, TLR4 and TLR9.Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNBproduction. Isoform 3 inhibits TNF and IL-1 mediated activation ofNF-kappa-B. Promotes TNF and RIP mediated apoptosis.{ECO:0000269|PubMed:15107846, ECO:0000269|PubMed:19893624}.

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 ACTB_RNF216


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 ACTB_RNF216


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
ACTBCFL1, CFL2, ACTB, DSTN, ACTG1, NCALD, RAB8B, MYC, SMARCA4, SMARCE1, SMARCC2, NCF1, RAC1, RAC2, PFN1, PCYT1B, CCT5, CCT2, SSH1, SSH2, SPTBN2, RUVBL2, MEPCE, RUVBL1, PSTPIP1, INO80, BCL7C, MGMT, CENPA, CARM1, EMD, MORF4L1, MORF4L2, MRGBP, ESR1, ACTR3, ACTR2, DMAP1, KAT5, CBL, UCHL5, SMN1, AGO4, SMAD3, TJP1, YWHAQ, PSMA3, BCL2L1, H2AFX, AIMP2, TK1, CDKN1A, FABP4, RCC1, TTR, ANXA7, HMMR, CTGF, POLR2A, TAF11, PCK1, VHL, PROM1, ATF3, HNRNPU, ELAVL1, ARRB2, ANGPTL4, DHX9, ERG, FBXO25, TINF2, ACD, POT1, PPP1CC, PPP1CA, CUL3, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, CAND1, NEDD8, OSTF1, SHBG, MYOC, MKL1, LRRK2, SLC6A2, SNCA, UBASH3B, GRB2, PIK3R2, SHC1, CRK, EPS15, AP2M1, CYBB, IQGAP1, NSMAF, AKT1, ABLIM1, FPR1, A2M, MYH11, CORO1C, FHOD1, MAGOH, EIF4A3, HNF1A, SMURF1, VCP, TRAF3IP1, ERBB2, POLR1B, ESR2, FN1, VCAM1, HCK, DAB2, IQCB1, OTUB1, SMAD9, UBL4A, ITGA4, SVIL, PHB, BBS4, MAP1A, MAP2, NOS3, SLC12A3, DTNA, PAN2, PLG, ICAM1, CD81, ICAM3, MAPK7, AR, MYH9, ACE, RAD52, ENC1, CAV1, EP300, CSNK2B, KHDRBS1, PROSER2, RPL10A, COTL1, HNRNPD, PARK2, CDKN2A, RPA1, RPA2, RPA3, ASB9, ASB12, ZBTB1, HSPA5, ERRFI1, LGR4, CORO7, IVNS1ABP, STAU1, AMOT, HAUS1, CEP250, LGALS3BP, NEDD1, TP53, TUBG1, TUBGCP2, TUBGCP3, FUS, PA2G4, HDAC6, EHHADH, CAP2, WDYHV1, ALK, KAT2B, MDM2, ADA, MAGEA10, TPST1, LMX1B, USP46, DUSP19, HOXB5, HOMER1, PRSS23, HSD17B3, PNMA1, SLC30A6, HNRNPA1, SAMHD1, UNK, CORO1B, CAD, EEF1A1, EEF1A2, YARS, SCARNA22, HSPB2, TCP1, SRPK2, FLNA, PPP1CB, RAB2A, SYNPO, LIMA1, MYO18A, TRIM15, UBE3A, SKI, SNW1, CDC5L, ERBB3, EGFR, EPC1, MBTD1, PTPN1, GC, PHACTR2, PFN2, THRB, TMOD3, REG3A, DBN1, NEXN, TMCC2, COBL, CAP1, TWF2, RNASE3, SFXN5, NPB, SLC25A11, RPL15, PLEKHG6, PPIAL4G, CDK10, SCGB1A1, POLH, RIC3, NUS1, ACP1, IL1RL2, DUSP10, NXF5, THAP4, ZNF695, HTR1E, LSP1, RPS27, MEIS2, FBXL5, DEFA6, CLEC2D, UQCRB, TPGS2, CTNNB1, MTNR1A, CYLD, CCND2, FAM107A, HEY1, TESRNF216TLR3, TLR4, TLR5, TLR9, UBE2H, UBE2L3, UBE2C, UBE2L6, RNF216, RIPK1, TIRAP, TICAM1, KIR2DL4, TRAF3, BRCA1, RNF11, MOV10, NXF1, XPO1, BECN1, ARC, UBE2D3, TRIM25


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 ACTB_RNF216


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 ACTB_RNF216


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTBC2239176Liver carcinoma2CTD_human
HgeneACTBC0005586Bipolar Disorder1PSYGENET
HgeneACTBC0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTBC0013393Dysostoses1CTD_human
HgeneACTBC0013421Dystonia1CTD_human
HgeneACTBC0014859Esophageal Neoplasms1CTD_human
HgeneACTBC0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
HgeneACTBC0024121Lung Neoplasms1CTD_human
HgeneACTBC0024667Animal Mammary Neoplasms1CTD_human
HgeneACTBC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTBC0027626Neoplasm Invasiveness1CTD_human
HgeneACTBC0029408Degenerative polyarthritis1CTD_human
HgeneACTBC0036341Schizophrenia1PSYGENET
HgeneACTBC0151744Myocardial Ischemia1CTD_human
HgeneACTBC0242184Hypoxia1CTD_human
HgeneACTBC0376634Craniofacial Abnormalities1CTD_human
HgeneACTBC0497552Congenital neurologic anomalies1CTD_human
HgeneACTBC1846331Juvenile-onset dystonia1CTD_human;ORPHANET;UNIPROT
HgeneACTBC1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET;UNIPROT
TgeneRNF216C1859305Cerebellar Ataxia and Hypogonadotropic Hypogonadism1ORPHANET;UNIPROT