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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: 30576

FusionGeneSummary for RASSF5_IKBKE

check button Fusion gene summary
Fusion gene informationFusion gene name: RASSF5_IKBKE
Fusion gene ID: 30576
HgeneTgene
Gene symbol

RASSF5

IKBKE

Gene ID

283349

9641

Gene nameRas association domain family member 3inhibitor of nuclear factor kappa B kinase subunit epsilon
SynonymsRASSF5IKK-E|IKK-i|IKKE|IKKI
Cytomap

12q14.2

1q32.1

Type of geneprotein-codingprotein-coding
Descriptionras association domain-containing protein 3Ras association (RalGDS/AF-6) domain family 3Ras association (RalGDS/AF-6) domain family member 3inhibitor of nuclear factor kappa-B kinase subunit epsilonI-kappa-B kinase epsilonIKK-epsilonIKK-related kinase epsiloninducible I kappa-B kinaseinducible IkappaB kinaseinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon
Modification date2018051920180523
UniProtAcc

Q8WWW0

Q14164

Ensembl transtripts involved in fusion geneENST00000355294, ENST00000367117, 
ENST00000304534, ENST00000491368, 
ENST00000367120, ENST00000537984, 
ENST00000463979, 
Fusion gene scores* DoF score2 X 3 X 2=122 X 2 X 2=8
# samples 33
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/8*10)=1.90689059560852
Context

PubMed: RASSF5 [Title/Abstract] AND IKBKE [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
TgeneIKBKE

GO:0006468

protein phosphorylation

10882136|20188669|24882218

TgeneIKBKE

GO:0051260

protein homooligomerization

24882218


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
TCGARVHNSCTCGA-DQ-7591-01ARASSF5chr1

206711622

+IKBKEchr1

206644499

+
* 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
5CDS-5UTRENST00000355294ENST00000367120RASSF5chr1

206711622

+IKBKEchr1

206644499

+
5CDS-5UTRENST00000355294ENST00000537984RASSF5chr1

206711622

+IKBKEchr1

206644499

+
5CDS-3UTRENST00000355294ENST00000463979RASSF5chr1

206711622

+IKBKEchr1

206644499

+
5CDS-5UTRENST00000367117ENST00000367120RASSF5chr1

206711622

+IKBKEchr1

206644499

+
5CDS-5UTRENST00000367117ENST00000537984RASSF5chr1

206711622

+IKBKEchr1

206644499

+
5CDS-3UTRENST00000367117ENST00000463979RASSF5chr1

206711622

+IKBKEchr1

206644499

+
intron-5UTRENST00000304534ENST00000367120RASSF5chr1

206711622

+IKBKEchr1

206644499

+
intron-5UTRENST00000304534ENST00000537984RASSF5chr1

206711622

+IKBKEchr1

206644499

+
intron-3UTRENST00000304534ENST00000463979RASSF5chr1

206711622

+IKBKEchr1

206644499

+
intron-5UTRENST00000491368ENST00000367120RASSF5chr1

206711622

+IKBKEchr1

206644499

+
intron-5UTRENST00000491368ENST00000537984RASSF5chr1

206711622

+IKBKEchr1

206644499

+
intron-3UTRENST00000491368ENST00000463979RASSF5chr1

206711622

+IKBKEchr1

206644499

+

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FusionProtFeatures for RASSF5_IKBKE


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RASSF5

Q8WWW0

IKBKE

Q14164

Potential tumor suppressor. Seems to be involved inlymphocyte adhesion by linking RAP1A activation upon T-cellreceptor or chemokine stimulation to integrin activation. Isoform2 stimulates lymphocyte polarization and the patch-likedistribution of ITGAL/LFA-1, resulting in an enhanced adhesion toICAM1. Together with RAP1A may participate in regulation ofmicrotubule growth. The association of isoform 2 with activatedRAP1A is required for directional movement of endothelial cellsduring wound healing. May be involved in regulation of Rasapoptotic function. The RASSF5-STK4/MST1 complex may mediate HRASand KRAS induced apoptosis. {ECO:0000269|PubMed:12676952,ECO:0000269|PubMed:12845325, ECO:0000269|PubMed:15569673}. Serine/threonine kinase that plays an essential role inregulating inflammatory responses to viral infection, through theactivation of the type I IFN, NF-kappa-B and STAT signaling. Alsoinvolved in TNFA and inflammatory cytokines, like Interleukin-1,signaling. Following activation of viral RNA sensors, such as RIG-I-like receptors, associates with DDX3X and phosphorylatesinterferon regulatory factors (IRFs), IRF3 and IRF7, as well asDDX3X. This activity allows subsequent homodimerization andnuclear translocation of the IRF3 leading to transcriptionalactivation of pro-inflammatory and antiviral genes including IFNB.In order to establish such an antiviral state, IKBKE forms severaldifferent complexes whose composition depends on the type of celland cellular stimuli. Thus, several scaffolding moleculesincluding IPS1/MAVS, TANK, AZI2/NAP1 or TBKBP1/SINTBAD can berecruited to the IKBKE-containing-complexes. Activated bypolyubiquitination in response to TNFA and interleukin-1,regulates the NF-kappa-B signaling pathway through, at least, thephosphorylation of CYLD. Phosphorylates inhibitors of NF-kappa-Bthus leading to the dissociation of the inhibitor/NF-kappa-Bcomplex and ultimately the degradation of the inhibitor. Inaddition, is also required for the induction of a subset of ISGswhich displays antiviral activity, may be through thephosphorylation of STAT1 at 'Ser-708'. Phosphorylation of STAT1 at'Ser-708' seems also to promote the assembly and DNA binding ofISGF3 (STAT1:STAT2:IRF9) complexes compared to GAF (STAT1:STAT1)complexes, in this way regulating the balance between type I andtype II IFN responses. Protects cells against DNA damage-inducedcell death. Also plays an important role in energy balanceregulation by sustaining a state of chronic, low-gradeinflammation in obesity, wich leads to a negative impact oninsulin sensitivity. Phosphorylates AKT1.{ECO:0000269|PubMed:17568778, ECO:0000269|PubMed:18583960,ECO:0000269|PubMed:19153231, ECO:0000269|PubMed:20188669,ECO:0000269|PubMed:21138416, ECO:0000269|PubMed:21464307,ECO:0000269|PubMed:22532683, ECO:0000269|PubMed:23453969,ECO:0000269|PubMed:23478265}.

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 RASSF5_IKBKE


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 RASSF5_IKBKE


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
RASSF5HRAS, MRAS, RASSF1, RASSF2, KRAS, RAP2A, RRAS, RASSF5, MAP1LC3A, MAP1LC3B, MAP1S, STK4, MAP1B, STK3, FLNC, ERP44, AGL, KCTD12, HIPK1, MDM2, UBQLN1, APPBP2, ITCH, KPNB1, ADH6, LSM7, MOB1A, MOB1B, BTRC, SMAD4, RABIF, RAP1B, RAP2B, REL, TRAF1, TRAF2, MYLIP, VPS28, AMOTL2, KRTAP4-2, KRT40IKBKEROCK2, CLTC, LRPPRC, DSTYK, EPRS, IMPDH2, MYH10, PABPC1, ACLY, ATIC, VCP, PLS3, PPP2R1A, RUVBL2, LARS, PSMA7, PDIA6, SND1, HYOU1, CDC37, FKBP5, HSP90AA2P, KTN1, TANK, CYLD, IRF3, RELA, CALCOCO2, MAVS, AZI2, TBKBP1, TBK1, TNIP1, TAX1BP1, TNFAIP3, IKBKG, CHUK, IKBKB, MBP, XIAP, TOPORS, PML, TRIM27, TRAF3, TRAF2, NFKBIA, RNF11, DDX3X, HSP90AA1, MYD88, IKBKE, BIRC2, BIRC3, TRAF3IP2, MAFB, DDX58, NMRAL1, TRIM6, UBC, CD209, APPBP2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT8, TCP1, IFIT3, ESR1, TRAF6


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 RASSF5_IKBKE


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 RASSF5_IKBKE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRASSF5C0022665Kidney Neoplasm1CTD_human
HgeneRASSF5C0027819Neuroblastoma1CTD_human
TgeneIKBKEC0041696Unipolar Depression1PSYGENET
TgeneIKBKEC1269683Major Depressive Disorder1PSYGENET