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Fusion gene ID: 29905 |
FusionGeneSummary for RAB14_C5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RAB14_C5 | Fusion gene ID: 29905 | Hgene | Tgene | Gene symbol | RAB14 | C5 | Gene ID | 51552 | 727 |
Gene name | RAB14, member RAS oncogene family | complement C5 | |
Synonyms | FBP|RAB-14 | C5D|C5a|C5b|CPAMD4|ECLZB | |
Cytomap | 9q33.2 | 9q33.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ras-related protein Rab-14F protein-binding protein 1bA165P4.3 (member RAS oncogene family)small GTP binding protein RAB14 | complement C5C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4C5a anaphylatoxinanaphylatoxin C5a analogcomplement component 5prepro-C5 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P61106 | P01031 | |
Ensembl transtripts involved in fusion gene | ENST00000373840, | ENST00000223642, ENST00000466280, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 4 X 4 X 4=64 |
# samples | 5 | 4 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RAB14 | GO:0032456 | endocytic recycling | 22595670 |
Hgene | RAB14 | GO:0032880 | regulation of protein localization | 22595670 |
Tgene | C5 | GO:0010575 | positive regulation of vascular endothelial growth factor production | 14566334|16452172 |
Tgene | C5 | GO:0010760 | negative regulation of macrophage chemotaxis | 14566334 |
Tgene | C5 | GO:0090197 | positive regulation of chemokine secretion | 14566334 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | LUSC | TCGA-77-8150-01A | RAB14 | chr9 | 123963917 | - | C5 | chr9 | 123753558 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000373840 | ENST00000223642 | RAB14 | chr9 | 123963917 | - | C5 | chr9 | 123753558 | - |
5UTR-intron | ENST00000373840 | ENST00000466280 | RAB14 | chr9 | 123963917 | - | C5 | chr9 | 123753558 | - |
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FusionProtFeatures for RAB14_C5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RAB14 | C5 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RAB14_C5 |
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 RAB14_C5 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RAB14 | DSTYK, 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, COMT | C5 | C6, C7, C8B, C5AR1, CPB2, C3, CREB3L1, LMNA |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RAB14_C5 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | C5 | P01031 | DB01257 | Eculizumab | Complement C5 | biotech | approved|investigational |
Tgene | C5 | P01031 | DB01593 | Zinc | Complement C5 | small molecule | approved|investigational |
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RelatedDiseases for RAB14_C5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C5 | C0031154 | Peritonitis | 2 | CTD_human |
Tgene | C5 | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |