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Fusion gene ID: 30948 |
FusionGeneSummary for REL_RAB1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: REL_RAB1A | Fusion gene ID: 30948 | Hgene | Tgene | Gene symbol | REL | RAB1A | Gene ID | 5966 | 5861 |
| Gene name | REL proto-oncogene, NF-kB subunit | RAB1A, member RAS oncogene family | |
| Synonyms | C-Rel | RAB1|YPT1 | |
| Cytomap | 2p16.1 | 2p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | proto-oncogene c-Reloncogene REL, avian reticuloendotheliosisv-rel avian reticuloendotheliosis viral oncogene homolog | ras-related protein Rab-1AGTP binding protein Rab1aRAB1, member RAS oncogene familyRab GTPase YPT1 homologYPT1-related protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q04864 | P62820 | |
| Ensembl transtripts involved in fusion gene | ENST00000295025, ENST00000394479, | ENST00000494188, ENST00000409892, ENST00000409784, ENST00000398529, ENST00000409751, ENST00000260638, ENST00000356214, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 6 X 4 X 6=144 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: REL [Title/Abstract] AND RAB1A [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 | REL | GO:0010629 | negative regulation of gene expression | 22065573 |
| Hgene | REL | GO:0032688 | negative regulation of interferon-beta production | 22065573 |
| Hgene | REL | GO:0045944 | positive regulation of transcription by RNA polymerase II | 1406630 |
| 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-77-8009-01A | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| * 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 |
| 5CDS-5UTR | ENST00000295025 | ENST00000494188 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000295025 | ENST00000409892 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000295025 | ENST00000409784 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000295025 | ENST00000398529 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000295025 | ENST00000409751 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000295025 | ENST00000260638 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000295025 | ENST00000356214 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000494188 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000409892 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000409784 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000398529 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000409751 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000260638 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
| 5CDS-5UTR | ENST00000394479 | ENST00000356214 | REL | chr2 | 61128218 | + | RAB1A | chr2 | 65331940 | - |
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FusionProtFeatures for REL_RAB1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| REL | RAB1A |
| Proto-oncogene that may play a role in differentiationand lymphopoiesis. NF-kappa-B is a pleiotropic transcriptionfactor which is present in almost all cell types and is involvedin many biological processed such as inflammation, immunity,differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-likedomain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50,REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA oftheir target genes and the individual dimers have distinctpreferences for different kappa-B sites that they can bind withdistinguishable affinity and specificity. Different dimercombinations act as transcriptional activators or repressors,respectively. NF-kappa-B is controlled by various mechanisms ofpost-translational modification and subcellularcompartmentalization as well as by interactions with othercofactors or corepressors. NF-kappa-B complexes are held in thecytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activationpathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs)in response to different activators, subsequently degraded thusliberating the active NF-kappa-B complex which translocates to thenucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is atranscriptional activator. | The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different sets of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. RAB1A regulates vesicular protein transportfrom the endoplasmic reticulum (ER) to the Golgi compartment andon to the cell surface, and plays a role in IL-8 and growthhormone secretion. Regulates the level of CASR present at the cellmembrane. Plays a role in cell adhesion and cell migration, viaits role in protein trafficking. Plays a role in autophagosomeassembly and cellular defense reactions against pathogenicbacteria. Plays a role in microtubule-dependent protein transportby early endosomes and in anterograde melanosome transport.{ECO:0000269|PubMed:20639577, ECO:0000269|PubMed:20861236,ECO:0000269|PubMed:21303926, ECO:0000269|PubMed:22939626}. |
| 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 REL_RAB1A |
| 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 REL_RAB1A |
| 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 |
| REL | PPP4C, MAP3K8, PAPOLA, RELA, NFKB1, NFKB2, TBK1, TNIP2, NFKBIE, ELF1, SRF, TBP, GTF2B, SP1, NKRF, MTPN, MAPK8, NFKBIA, NFKBIB, CDK2, CREBBP, EP300, FOXP3, DPF2, HSPA4, COMMD1, SOCS3, CXCL14, AAAS, CLIC4, TMEM165, C9orf91, AR, ADRB2, ADSL, ARNT2, BZRAP1, DGCR6, FHIT, MVP, NDE1, PARK2, PRKAB2, TDO2, ACTN3, AES, ALOX5, BID, SEPT7, CDKN2C, CKS1B, COL8A1, DHPS, DNTT, EIF4EBP1, EIF5A, EPHB6, FHL2, FKBP1B, FLNA, GRB2, HIP1, UBE2K, HLA-DOA, LASP1, LMO1, LMO2, LNPEP, FOXO4, NEDD9, NUCB1, PLCB4, POLE2, POLR2L, PSMA1, PTGER3, PTK6, RABIF, SAT1, ATXN1, SDCBP, SLC6A12, RECK, NCK2, HAT1, CGGBP1, STK16, EIF3A, EIF3D, EIF4E2, RBM39, KIAA0100, EPM2AIP1, ACOT8, CHAF1A, TSSC4, ARIH2, MAD2L2, GADD45G, MORF4L1, EXOSC8, R3HDM2, SEC31A, SZT2, TENC1, DAAM2, EML2, POLR1A, NDUFAF3, NECAP1, IL36RN, OSTF1, HSPB7, RSPH14, CPSF1, NME7, OSGIN1, A1CF, NEUROG3, EXOSC1, MEMO1, CHCHD2, DYNC1LI1, POP5, CINP, HDAC7, OAZ3, TRAPPC2L, UBASH3A, OTUD4, TTC19, SLC41A3, C1orf109, TXNL4B, MAGOHB, NAGK, ASAP3, NXT2, CABP5, EIF5A2, LGALS14, AGPAT4, MAP3K7CL, EXOSC5, PRDM10, CTNNBIP1, COL20A1, RNF213, LSM2, NGB, DMRT3, TMEM8A, PARVG, UBE2Z, OTUB2, C20orf195, ATG9A, CCNJL, SNRNP25, NOL9, FLAD1, TSSK3, RASSF5, C11orf68, PLEKHN1, MIEN1, VPS25, CEP19, KRTAP9-4, BMF, SLC39A13, ATPAF2, ZNF765, RIPPLY1, EGLN3, EFHC1, KLHL32, CIB3, PIH1D2, MRPL10, NR2C2AP, KLHL40, GLYCTK, ZNF572, ZNF417, TSTD2, PATE1, ZNF550, ZNF564, FUT11, TTC21A, STRA13, C9orf72, CPNE2, NEIL2, ZDHHC24, NUDT14, SEC14L4, BARHL2, RAB41, TRIM74, C12orf75, REXO1L6P, BTRC, RELB, TSR3, AURKA, XPO1, BIRC3, RGS3, HIF1AN, NFKBID | RAB1A | RABAC1, GOLGA2, MICAL1, RABIF, GOLGA5, CAPNS1, CREB1, FSCN1, HIVEP1, SLC16A8, TBC1D17, CDKN1A, RFK, CHML, USO1, CHM, RABEP1, ELAVL1, ARRB1, RAB11B, RAB7A, GDI1, GDI2, RAB11A, RAB31, HNRNPA1L2, RAP1A, PTBP1, HNRNPA3, IQCB1, UBL4A, BAG3, ATP4A, ATP6V1A, MTPN, PCYT2, PDIA3, ENO2, GMPS, MTAP, PNP, TUBB4B, RPA1, RPA2, RPA3, ASB5, ASB9, SART3, RUSC2, CUL7, CCDC8, OCRL, ULK1, RAB1B, UNK, ATP1A1, ATP1A2, ATP1A3, ATP1B1, ATP5H, BCAP31, CCDC47, CYC1, DNAJA3, ETFA, HNRNPA1, HSD17B12, IPO9, KDSR, LDHA, LDHAL6B, LDHB, LDHC, LRPPRC, NDUFB8, NDUFB9, PHB, PHPT1, AHSA1, ARF1, ATP1B3, CANX, CDC42, CLGN, DUT, FUBP1, ILVBL, MTCH2, NDUFS8, PLIN3, PRRC1, RAB5A, RAB5B, RAB5C, RANBP1, RAP2C, SLC25A3, SSRP1, STMN1, TECR, TM9SF4, TOMM70A, TXN, RAB2A, RAB6A, RAB6B, RDH13, RER1, RPN1, RPN2, STOML2, STX12, STX7, TMCO1, TMED2, UBE2K, UQCRC2, UQCRQ, VAPA, VDAC2, TCTN2, TCTN3, CAPZA2, DBN1, ATL3, LIMA1, GTSE1, MTOR, RPTOR, CSNK1D, TRAPPC2L, VPS51, TMED10, TSSC1, PTAR1, SEC23IP, COG5, RAB18, VPS52, TRAPPC12, JTB, COG8, RIC1, COG3, COG7, VPS53, TRAPPC13, VPS54, CDC73, CDH1, EGFR, RAB8A, VPS13C, EEF1A2, RABGGTA, RAB2B, DLD, DLST, PARK7, PDHA1, G3BP1, HEY1 |
| - 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 REL_RAB1A |
| 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 REL_RAB1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | REL | C0003873 | Rheumatoid Arthritis | 3 | CTD_human |
| Hgene | REL | C0018843 | Heat Stroke | 1 | CTD_human |
| Hgene | REL | C0019829 | Hodgkin Disease | 1 | CTD_human |
| Hgene | REL | C0025261 | Memory Disorders | 1 | CTD_human |
| Hgene | REL | C0033860 | Psoriasis | 1 | CTD_human |
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