FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 29905

FusionGeneSummary for RAB14_C5

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB14_C5
Fusion gene ID: 29905
HgeneTgene
Gene symbol

RAB14

C5

Gene ID

51552

727

Gene nameRAB14, member RAS oncogene familycomplement C5
SynonymsFBP|RAB-14C5D|C5a|C5b|CPAMD4|ECLZB
Cytomap

9q33.2

9q33.2

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-14F protein-binding protein 1bA165P4.3 (member RAS oncogene family)small GTP binding protein RAB14complement C5C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4C5a anaphylatoxinanaphylatoxin C5a analogcomplement component 5prepro-C5
Modification date2018052320180527
UniProtAcc

P61106

P01031

Ensembl transtripts involved in fusion geneENST00000373840, ENST00000223642, 
ENST00000466280, 
Fusion gene scores* DoF score5 X 4 X 3=604 X 4 X 4=64
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB14 [Title/Abstract] AND C5 [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
HgeneRAB14

GO:0032456

endocytic recycling

22595670

HgeneRAB14

GO:0032880

regulation of protein localization

22595670

TgeneC5

GO:0010575

positive regulation of vascular endothelial growth factor production

14566334|16452172

TgeneC5

GO:0010760

negative regulation of macrophage chemotaxis

14566334

TgeneC5

GO:0090197

positive regulation of chemokine secretion

14566334


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
TCGALDLUSCTCGA-77-8150-01ARAB14chr9

123963917

-C5chr9

123753558

-
* 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
5UTR-3CDSENST00000373840ENST00000223642RAB14chr9

123963917

-C5chr9

123753558

-
5UTR-intronENST00000373840ENST00000466280RAB14chr9

123963917

-C5chr9

123753558

-

Top

FusionProtFeatures for RAB14_C5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAB14

P61106

C5

P01031

Involved in membrane trafficking between the Golgicomplex and endosomes during early embryonic development.Regulates the Golgi to endosome transport of FGFR-containingvesicles during early development, a key process for developingbasement membrane and epiblast and primitive endoderm lineagesduring early postimplantation development. May act by modulatingthe kinesin KIF16B-cargo association to endosomes (By similarity).Regulates, together with its guanine nucleotide exchange factorDENND6A, the specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and cell-cell adhesion. {ECO:0000250,ECO:0000269|PubMed:22595670}. Activation of C5 by a C5 convertase initiates thespontaneous assembly of the late complement components, C5-C9,into the membrane attack complex. C5b has a transient binding sitefor C6. The C5b-C6 complex is the foundation upon which the lyticcomplex is assembled. Derived from proteolytic degradation of complement C5,C5 anaphylatoxin is a mediator of local inflammatory process.Binding to the receptor C5AR1 induces a variety of responsesincluding intracellular calcium release, contraction of smoothmuscle, increased vascular permeability, and histamine releasefrom mast cells and basophilic leukocytes (PubMed:8182049). C5a isalso a potent chemokine which stimulates the locomotion ofpolymorphonuclear leukocytes and directs their migration towardsites of inflammation. {ECO:0000269|PubMed:8182049}.

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


Top

FusionGeneSequence for RAB14_C5


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).

Top

FusionGenePPI for RAB14_C5


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
RAB14DSTYK, RUFY1, RBSN, APP, HSPA5, ABCC2, LAMTOR3, ILVBL, UQCRFS1, ILF3, TACC3, HNRNPF, VCP, ATF2, IQCB1, UBL4A, OPTN, RAB11FIP5, RAB11FIP1, RPA3, RPA2, RPA1, EXOC5, CUL7, CCDC8, EED, OCRL, SLC25A41, HAX1, NUFIP1, DGUOK, ACTL6A, TGOLN2, UNK, ATP6V1C1, CDC42, SDHA, IFI16, GDI1, SLC33A1, ATP6AP2, ATL3, RAB4B, ANXA2, DUSP22, RAB2B, HCCS, GBA, COMTC5C6, C7, C8B, C5AR1, CPB2, C3, CREB3L1, LMNA


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


Top

RelatedDrugs for RAB14_C5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneC5P01031DB01257EculizumabComplement C5biotechapproved|investigational
TgeneC5P01031DB01593ZincComplement C5small moleculeapproved|investigational

Top

RelatedDiseases for RAB14_C5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC5C0031154Peritonitis2CTD_human
TgeneC5C0021051Immunologic Deficiency Syndromes1CTD_human