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Fusion gene ID: 36623 |
FusionGeneSummary for STUB1_RHOT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: STUB1_RHOT2 | Fusion gene ID: 36623 | Hgene | Tgene | Gene symbol | STUB1 | RHOT2 | Gene ID | 10273 | 89941 |
| Gene name | STIP1 homology and U-box containing protein 1 | ras homolog family member T2 | |
| Synonyms | CHIP|HSPABP2|NY-CO-7|SCAR16|SDCCAG7|UBOX1 | ARHT2|C16orf39|MIRO-2|MIRO2|RASL | |
| Cytomap | 16p13.3 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase CHIPCLL-associated antigen KW-8RING-type E3 ubiquitin transferase CHIPSTIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligaseantigen NY-CO-7carboxy terminus of Hsp70-interacting proteinheat shock protei | mitochondrial Rho GTPase 2mitochondrial Rho (MIRO) GTPase 2ras homolog gene family, member T2 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9UNE7 | Q8IXI1 | |
| Ensembl transtripts involved in fusion gene | ENST00000565677, ENST00000219548, ENST00000564370, ENST00000566181, | ENST00000315082, ENST00000569943, | |
| 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: STUB1 [Title/Abstract] AND RHOT2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | STUB1 | GO:0000209 | protein polyubiquitination | 15781469|16275660 |
| Hgene | STUB1 | GO:0006515 | protein quality control for misfolded or incompletely synthesized proteins | 16831871 |
| Hgene | STUB1 | GO:0016567 | protein ubiquitination | 14610072|16809764 |
| Hgene | STUB1 | GO:0030579 | ubiquitin-dependent SMAD protein catabolic process | 15781469 |
| Hgene | STUB1 | GO:0031398 | positive regulation of protein ubiquitination | 11146632|16831871 |
| Hgene | STUB1 | GO:0031647 | regulation of protein stability | 16809764 |
| Hgene | STUB1 | GO:0031943 | regulation of glucocorticoid metabolic process | 11146632 |
| Hgene | STUB1 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 11146632 |
| Hgene | STUB1 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 15781469|24613385 |
| Hgene | STUB1 | GO:0051865 | protein autoubiquitination | 16307917|18042044 |
| Hgene | STUB1 | GO:0070534 | protein K63-linked ubiquitination | 16307917 |
| Hgene | STUB1 | GO:0071218 | cellular response to misfolded protein | 16831871 |
| Hgene | STUB1 | GO:0090035 | positive regulation of chaperone-mediated protein complex assembly | 16831871 |
| 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 | OV | TCGA-24-1557-01A | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| * 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 |
| In-frame | ENST00000565677 | ENST00000315082 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| 5CDS-intron | ENST00000565677 | ENST00000569943 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| In-frame | ENST00000219548 | ENST00000315082 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| 5CDS-intron | ENST00000219548 | ENST00000569943 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| In-frame | ENST00000564370 | ENST00000315082 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| 5CDS-intron | ENST00000564370 | ENST00000569943 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| 3UTR-3CDS | ENST00000566181 | ENST00000315082 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
| 3UTR-intron | ENST00000566181 | ENST00000569943 | STUB1 | chr16 | 731603 | + | RHOT2 | chr16 | 722084 | + |
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FusionProtFeatures for STUB1_RHOT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| STUB1 | RHOT2 |
| E3 ubiquitin-protein ligase which targets misfoldedchaperone substrates towards proteasomal degradation. Collaborateswith ATXN3 in the degradation of misfolded chaperone substrates:ATXN3 restricting the length of ubiquitin chain attached toSTUB1/CHIP substrates and preventing further chain extension.Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates theactivity of several chaperone complexes, including Hsp70, Hsc70and Hsp90. Mediates transfer of non-canonical short ubiquitinchains to HSPA8 that have no effect on HSPA8 degradation. Mediatespolyubiquitination of DNA polymerase beta (POLB) at 'Lys-41','Lys-61' and 'Lys-81', thereby playing a role in base-excisionrepair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradationby the proteasome. Mediates polyubiquitination of CYP3A4.Ubiquitinates EPHA2 and may regulate the receptor stability andactivity through proteasomal degradation. Acts as a co-chaperonefor HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negativelyregulates the suppressive function of regulatory T-cells (Treg)during inflammation by mediating the ubiquitination anddegradation of FOXP3 in a HSPA1A/B-dependent manner(PubMed:23973223). Likely mediates polyubiquitination anddownregulates plasma membrane expression of PD-L1/CD274, an immuneinhibitory ligand critical for immune tolerance to self andantitumor immunity. Negatively regulates TGF-beta signaling bymodulating the basal level of SMAD3 via ubiquitin-mediateddegradation (PubMed:24613385). {ECO:0000269|PubMed:10330192,ECO:0000269|PubMed:11146632, ECO:0000269|PubMed:11557750,ECO:0000269|PubMed:15466472, ECO:0000269|PubMed:19103148,ECO:0000269|PubMed:19567782, ECO:0000269|PubMed:19713937,ECO:0000269|PubMed:23973223, ECO:0000269|PubMed:23990462,ECO:0000269|PubMed:24613385, ECO:0000269|PubMed:28813410}. | Mitochondrial GTPase involved in mitochondrialtrafficking. Probably involved in control of anterograde transportof mitochondria and their subcellular distribution (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:16630562}. |
| 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 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000219548 | + | 3 | 7 | 26_59 | 174 | 304 | Repeat | Note=TPR 1 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000219548 | + | 3 | 7 | 60_93 | 174 | 304 | Repeat | Note=TPR 2 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000219548 | + | 3 | 7 | 95_127 | 174 | 304 | Repeat | Note=TPR 3 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000564370 | + | 2 | 6 | 26_59 | 102 | 232 | Repeat | Note=TPR 1 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000564370 | + | 2 | 6 | 60_93 | 102 | 232 | Repeat | Note=TPR 2 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000565677 | + | 3 | 7 | 26_59 | 102 | 232 | Repeat | Note=TPR 1 |
| Hgene | STUB1 | chr16:731603 | chr16:722084 | ENST00000565677 | + | 3 | 7 | 60_93 | 102 | 232 | Repeat | Note=TPR 2 |
| Tgene | >RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 410_618 | 365 | 619 | Domain | Note=Miro 2 |
| Tgene | >RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 423_430 | 365 | 619 | Nucleotide binding | GTP 2 |
| Tgene | >RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 459_463 | 365 | 619 | Nucleotide binding | GTP 2 |
| Tgene | >RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 524_527 | 365 | 619 | Nucleotide binding | GTP 2 |
| Tgene | >RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 616_618 | 365 | 619 | Topological domain | Cytoplasmic |
| Tgene | >RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 593_615 | 365 | 619 | Transmembrane | Helical%3B Anchor for type IV membrane protein |
| - 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 |
| Hgene | >STUB1 | chr16:731603 | chr16:722084 | ENST00000219548 | + | 3 | 7 | 226_300 | 174 | 304 | Domain | Note=U-box |
| Hgene | >STUB1 | chr16:731603 | chr16:722084 | ENST00000564370 | + | 2 | 6 | 226_300 | 102 | 232 | Domain | Note=U-box |
| Hgene | >STUB1 | chr16:731603 | chr16:722084 | ENST00000565677 | + | 3 | 7 | 226_300 | 102 | 232 | Domain | Note=U-box |
| Hgene | >STUB1 | chr16:731603 | chr16:722084 | ENST00000564370 | + | 2 | 6 | 95_127 | 102 | 232 | Repeat | Note=TPR 3 |
| Hgene | >STUB1 | chr16:731603 | chr16:722084 | ENST00000565677 | + | 3 | 7 | 95_127 | 102 | 232 | Repeat | Note=TPR 3 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 197_208 | 365 | 619 | Calcium binding | 1 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 317_328 | 365 | 619 | Calcium binding | 2 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 184_219 | 365 | 619 | Domain | EF-hand 1 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 1_142 | 365 | 619 | Domain | Note=Miro 1 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 304_339 | 365 | 619 | Domain | EF-hand 2 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 118_121 | 365 | 619 | Nucleotide binding | GTP 1 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 11_18 | 365 | 619 | Nucleotide binding | GTP 1 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 57_61 | 365 | 619 | Nucleotide binding | GTP 1 |
| Tgene | RHOT2 | chr16:731603 | chr16:722084 | ENST00000315082 | + | 12 | 19 | 1_592 | 365 | 619 | Topological domain | Mitochondrial intermembrane |
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FusionGeneSequence for STUB1_RHOT2 |
| 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 STUB1_RHOT2 |
| 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 |
| STUB1 | MPP1, KHDRBS1, UBE2D2, BAG1, HSPA8, HSPA4, DNAJB1, HSPA1A, PARK2, GPR37, CYP3A4, RAF1, XIAP, RUNX2, AKT1, MAPT, TP53, STUB1, UBE2D1, UBE2E2, GUCY1A2, TAL1, MAP3K5, HSP90AA1, AHR, EGFR, ATXN1, MST1R, VCP, EIF4E, UBE2N, UBE2V1, BAG2, AIMP2, ESR1, CFTR, DNAJC13, PARK7, NOS1, SOD1, MEN1, FBXO2, FBXO27, ERBB2, UBE2D3, NR3C1, UBC, PSMD4, RUNX1, LRRK2, FOXO1, GUCY1B3, GUCY1A3, DAXX, TERF1, TERF2, APP, HSPD1, SMAD1, SMAD5, NQO1, IRF1, ATXN3, SENP3, TLR4, TLR9, TRAF6, PRKCZ, SRC, AR, MYOCD, POLB, PPP2R1A, HIF1A, EPAS1, ARRB1, ARRB2, SMAD4, SMAD2, SMAD3, CYP2E1, UBE2E1, UBE2E3, UBE2W, SGK1, CD4, DRD4, AVPR2, MAP3K2, SNCA, BAG5, VHL, SKP2, MYC, RELA, HDAC6, GHR, PTEN, UBE2Q1, ATCAY, TRAF2, DNAJA3, NHLRC1, MKKS, HSF1, HSPBP1, PSMD1, PSMA3, EPM2A, MIF, TINF2, ACD, POT1, DPM1, TERT, STK11, DNAJC5, NOS2, MET, SMG5, PTK2, NR3C2, PGR, PTGES3, UBE2L3, PACRG, RAD23B, SRXN1, AHCYL1, SEC23A, UBE2V2, SULT1A1, NUBP2, STAM, PSMD14, PAICS, SEC24A, SH3BGRL, NUDCD2, CARD11, CFLAR, S100A2, S100A6, S100P, KCNQ4, OLA1, CTBP2, LIMS1, AXL, SLC12A3, KCNH2, MITF, FOXP3, SIRT6, CDK18, CDK20, DYRK1B, KATNA1, NOX5, BAG3, CUL4B, TPM1, MAP3K7, CHUK, MALT1, EIF5A, KIAA1524, JOSD1, JOSD2, ASB4, ASB10, PA2G4, PFN1, PHKG2, ILK, AGO1, KLHL29, MOV10, SHFM1, BAG4, CDC37, CDC37L1, HSP90AB1, MLF2, HSPA2, DNAJB6, HSPA1B, NADSYN1, HSPA1L, HSPA4L, TXLNG, ENDOG, MAP3K11, SNAI2, ERN1, FMR1, PCSK9, ABL1, BCR, RUSC1, TXN2, CCL28, OLFM3, SQSTM1, ENO1, NXF1, MCF2, ARAF, IRAK1, PELI3, DYX1C1, LLGL2, TEAD3, YAP1, RPS6KB2, HSPB1, AMBRA1, CCT5, CCT7, PRPF19, UBE4B, USP5, KIAA0753, EVC2, STIL, HSPA5, JAK3, DNAJC7, ATP6AP2, TOMM40, SP7, NLRP3, USP19, BACE1, PRMT5, CDK5, KCNA5, UBXN10, OTUB1, BAG6, HIPK2, PARP1, CLEC1B, PPARG, RFX1, DDIAS, FLCN, KLHL34, SLC27A3, ABHD15, TCAP, NAT16, P4HA2, TYSND1, KCND2, KLHDC2, DHX30, ERG, TRIM25, RHBDF2, PCBP1, CDKN1A, KIAA1804, UBE2D4, SLC6A4, PHLPP1 | RHOT2 | RYK, PARK2, ACIN1, TECR, RAB5A, RPS26, OXA1L, NDUFS7, HNRNPF, SRSF5, RPS2, HNRNPR, CHCHD4, EEF2, DHX9, RPL9, NDUFS8, EIF4A3, NDUFS1, SAMM50, ZFYVE9, FBXO6, ILK, PINK1, RNF2, NTRK1, MYO19, COQ9, UBC, MRPL20, RHOT1, SARM1, XPR1, FKRP, WDFY3, ATP2B2, BTAF1, SGPP1, 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 STUB1_RHOT2 |
| 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 STUB1_RHOT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | STUB1 | C4014261 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 | 4 | ORPHANET;UNIPROT |
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