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Fusion gene ID: 29898 |
FusionGeneSummary for RAB11FIP4_RAD51C |
Fusion gene summary |
Fusion gene information | Fusion gene name: RAB11FIP4_RAD51C | Fusion gene ID: 29898 | Hgene | Tgene | Gene symbol | RAB11FIP4 | RAD51C | Gene ID | 84440 | 5889 |
Gene name | RAB11 family interacting protein 4 | RAD51 paralog C | |
Synonyms | FIP4-Rab11|RAB11-FIP4 | BROVCA3|FANCO|R51H3|RAD51L2 | |
Cytomap | 17q11.2 | 17q22 | |
Type of gene | protein-coding | protein-coding | |
Description | rab11 family-interacting protein 4RAB11 family interacting protein 4 (class II)arfophilin-2 | DNA repair protein RAD51 homolog 3RAD51-like protein 2yeast RAD51 homolog 3 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q86YS3 | O43502 | |
Ensembl transtripts involved in fusion gene | ENST00000325874, ENST00000581280, ENST00000394744, | ENST00000583539, ENST00000337432, ENST00000487921, ENST00000421782, | |
Fusion gene scores | * DoF score | 4 X 2 X 4=32 | 7 X 4 X 2=56 |
# samples | 4 | 8 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/56*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RAB11FIP4 [Title/Abstract] AND RAD51C [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 |
Tgene | RAD51C | GO:0006281 | DNA repair | 19451272 |
Tgene | RAD51C | GO:0006310 | DNA recombination | 19451272 |
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 | BRCA | TCGA-AR-A250-01A | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
* 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 |
intron-3CDS | ENST00000325874 | ENST00000583539 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3CDS | ENST00000325874 | ENST00000337432 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3UTR | ENST00000325874 | ENST00000487921 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3UTR | ENST00000325874 | ENST00000421782 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3CDS | ENST00000581280 | ENST00000583539 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3CDS | ENST00000581280 | ENST00000337432 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3UTR | ENST00000581280 | ENST00000487921 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
intron-3UTR | ENST00000581280 | ENST00000421782 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
Frame-shift | ENST00000394744 | ENST00000583539 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
Frame-shift | ENST00000394744 | ENST00000337432 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
5CDS-3UTR | ENST00000394744 | ENST00000487921 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
5CDS-3UTR | ENST00000394744 | ENST00000421782 | RAB11FIP4 | chr17 | 29815290 | + | RAD51C | chr17 | 56772292 | + |
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FusionProtFeatures for RAB11FIP4_RAD51C |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RAB11FIP4 | RAD51C |
Acts as a regulator of endocytic traffic byparticipating in membrane delivery. Required for the abcissionstep in cytokinesis, possibly by acting as an 'address tag'delivering recycling endosome membranes to the cleavage furrowduring late cytokinesis. In case of infection by HCMV (humancytomegalovirus), may participate in egress of the virus out ofnucleus; this function is independent of ARF6.{ECO:0000269|PubMed:12470645}. | Essential for the homologous recombination (HR) pathwayof DNA repair. Involved in the homologous recombination repair(HRR) pathway of double-stranded DNA breaks arising during DNAreplication or induced by DNA-damaging agents. Part of the RAD21paralog protein complexes BCDX2 and CX3 which act at differentstages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage,BCDX2 seems to act downstream of BRCA2 recruitment and upstream ofRAD51 recruitment; CX3 seems to act downstream of RAD51recruitment; both complexes bind predominantly to the intersectionof the four duplex arms of the Holliday junction (HJ) and tojunction of replication forks. The BCDX2 complex was originallyreported to bind single-stranded DNA, single-stranded gaps induplex DNA and specifically to nicks in duplex DNA. The BCDX2subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependentATPase activity suggesting an involvement in early stages of theHR pathway. Involved in RAD51 foci formation in response to DNAdamage suggesting an involvement in early stages of HR probably inthe invasion step. Has an early function in DNA repair infacilitating phosphorylation of the checkpoint kinase CHEK2 andthereby transduction of the damage signal, leading to cell cyclearrest and HR activation. Participates in branch migration and HJresolution and thus is important for processing HR intermediateslate in the DNA repair process; the function may be linked to theCX3 complex. Part of a PALB2-scaffolded HR complex containingBRCA2 and which is thought to play a role in DNA repair by HR.Protects RAD51 from ubiquitin-mediated degradation that isenhanced following DNA damage. Plays a role in regulatingmitochondrial DNA copy number under conditions of oxidative stressin the presence of RAD51 and XRCC3. Contributes to DNA cross-linkresistance, sister chromatid cohesion and genomic stability.Involved in maintaining centrosome number in mitosis.{ECO:0000269|PubMed:14716019, ECO:0000269|PubMed:16215984,ECO:0000269|PubMed:16395335, ECO:0000269|PubMed:19451272,ECO:0000269|PubMed:19783859, ECO:0000269|PubMed:20413593,ECO:0000269|PubMed:23108668, ECO:0000269|PubMed:23149936}. |
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 RAB11FIP4_RAD51C |
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 RAB11FIP4_RAD51C |
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 |
RAB11FIP4 | RAB11A, RAB11FIP4, RAB11FIP3, RAB11FIP2, RAB11FIP5, TSG101, KIAA0368, GFI1B, ARF6, TNIP2, SPECC1, FBXO28, SELENBP1, S100A3, DUSP14, LRRC15 | RAD51C | RAD51, RAD51B, XRCC3, XRCC2, RAD51D, APP, SWSAP1, BSG, SPACA1, IL12RB1, CBWD1, TGOLN2, WNT4, THBS3, KLHL10, PTPN9, CCDC140, EFNB3, DKKL1, FAM174A, ADAMTS4, HENMT1, HELQ, PALB2, BRCA2, TRIM25 |
- 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 RAB11FIP4_RAD51C |
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 |
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RelatedDiseases for RAB11FIP4_RAD51C |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | RAD51C | C3150659 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | 3 | CTD_human;UNIPROT |
Tgene | RAD51C | C3150653 | FANCONI ANEMIA, COMPLEMENTATION GROUP O | 2 | CTD_human;UNIPROT |
Tgene | RAD51C | C0015625 | Fanconi Anemia | 1 | CTD_human;ORPHANET |
Tgene | RAD51C | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | RAD51C | C1458155 | Mammary Neoplasms | 1 | CTD_human |