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Fusion gene ID: 16339 |
FusionGeneSummary for HLA-B_UBR5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HLA-B_UBR5 | Fusion gene ID: 16339 | Hgene | Tgene | Gene symbol | HLA-B | UBR5 | Gene ID | 3106 | 51366 |
| Gene name | major histocompatibility complex, class I, B | ubiquitin protein ligase E3 component n-recognin 5 | |
| Synonyms | AS|B-4901|HLAB | DD5|EDD|EDD1|HYD | |
| Cytomap | 6p21.33 | 8q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | major histocompatibility complex, class I, BHLA class I antigen HLA-BHLA class I histocompatibility antigen, B alpha chainMHC HLA-B cell surface glycoproteinMHC HLA-B transmembrane glycoproteinMHC class 1 antigenMHC class I antigen HLA-B alpha chain | E3 ubiquitin-protein ligase UBR5E3 identified by differential displayE3 ubiquitin-protein ligase, HECT domain-containing 1HECT-type E3 ubiquitin transferase UBR5hyperplastic discs protein homologprogestin-induced protein | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q95365 | O95071 | |
| Ensembl transtripts involved in fusion gene | ENST00000412585, ENST00000425848, ENST00000450871, ENST00000359635, ENST00000435618, ENST00000421349, | ENST00000520539, ENST00000220959, ENST00000518205, ENST00000521922, ENST00000519528, | |
| Fusion gene scores | * DoF score | 17 X 11 X 8=1496 | 8 X 13 X 6=624 |
| # samples | 19 | 14 | |
| ** MAII score | log2(19/1496*10)=-2.97703885155669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/624*10)=-2.15611920191728 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HLA-B [Title/Abstract] AND UBR5 [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 | UBR5 | GO:0000209 | protein polyubiquitination | 21118991|28689657 |
| Tgene | UBR5 | GO:0006974 | cellular response to DNA damage stimulus | 12011095 |
| Tgene | UBR5 | GO:0010628 | positive regulation of gene expression | 18076571 |
| Tgene | UBR5 | GO:0050847 | progesterone receptor signaling pathway | 12011095 |
| Tgene | UBR5 | GO:0070936 | protein K48-linked ubiquitination | 28689657 |
| 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 | RV | BRCA | TCGA-S3-AA0Z-01A | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| * 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 | ENST00000412585 | ENST00000520539 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000412585 | ENST00000220959 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000412585 | ENST00000518205 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000412585 | ENST00000521922 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000412585 | ENST00000519528 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000425848 | ENST00000520539 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000425848 | ENST00000220959 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000425848 | ENST00000518205 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000425848 | ENST00000521922 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000425848 | ENST00000519528 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000450871 | ENST00000520539 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000450871 | ENST00000220959 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000450871 | ENST00000518205 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000450871 | ENST00000521922 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000450871 | ENST00000519528 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000359635 | ENST00000520539 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000359635 | ENST00000220959 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000359635 | ENST00000518205 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000359635 | ENST00000521922 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000359635 | ENST00000519528 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000435618 | ENST00000520539 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000435618 | ENST00000220959 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000435618 | ENST00000518205 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000435618 | ENST00000521922 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000435618 | ENST00000519528 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000421349 | ENST00000520539 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-3CDS | ENST00000421349 | ENST00000220959 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000421349 | ENST00000518205 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000421349 | ENST00000521922 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
| intron-intron | ENST00000421349 | ENST00000519528 | HLA-B | chr6 | 31321759 | - | UBR5 | chr8 | 103354894 | - |
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FusionProtFeatures for HLA-B_UBR5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HLA-B | UBR5 |
| E3 ubiquitin-protein ligase which is a component of theN-end rule pathway. Recognizes and binds to proteins bearingspecific N-terminal residues that are destabilizing according tothe N-end rule, leading to their ubiquitination and subsequentdegradation (By similarity). Involved in maturation and/ortranscriptional regulation of mRNA by activating CDK9 bypolyubiquitination. May play a role in control of cell cycleprogression. May have tumor suppressor function. Regulates DNAtopoisomerase II binding protein (TopBP1) in the DNA damageresponse. Plays an essential role in extraembryonic development.Ubiquitinates acetylated PCK1. Also acts as a regulator of DNAdamage response by acting as a suppressor of RNF168, an E3ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting asa guard against excessive spreading of ubiquitinated chromatin atdamaged chromosomes. {ECO:0000250, ECO:0000269|PubMed:21127351,ECO:0000269|PubMed:21726808, ECO:0000269|PubMed:22884692}. |
| 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 HLA-B_UBR5 |
| 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 HLA-B_UBR5 |
| 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 |
| HLA-B | PFAS, VCP, AHCY, VARS, EZR, TARS, PLS3, PAICS, RUVBL1, PSMD1, TRIM28, MSN, LILRB2, LILRB1, CD8A, KIR3DS1, TRIB3, ARHGEF4, PCK1, B2M, NDUFA9, MMS19, ADRB2, STAT1, HSPA5, HLA-B, EDEM1, CXCR4, TUBGCP2, ATP1A3, ATP12A, HLA-C, HLA-A, HLA-E, HLA-H, INTS5, HEATR1, IPO13, ARFGEF1, ARFGEF2, HEATR6, PI4KA, WDR11, LTN1, WDFY3, PDK1, SLC39A3, NCAPH2, INTS4, ERAP1, CLTCL1, C1orf112, FCGRT, TTC28, UXS1, HTT, SGSM3, NEK4, FAM91A1, SIAE, FAF2, ERBB3, EGFR, HLA-G, ADAM21, TMPRSS11B, TUBA4A, ASIC4, TCTN2, TMEM30A, PTPRO, SDHA, CALR, TAP1, PDIA3 | UBR5 | MCRS1, MAGED1, MAPK1, MAPK3, TOPBP1, KPNA1, PGR, CIB1, RECQL5, USP49, WDR48, TCEA1, GTF2E2, PMS2, PMS1, PAIP2, CEBPD, SATB1, TP53, SNW1, NCOA2, UBXN7, FAF2, UBXN1, DYRK2, DDB1, VPRBP, KATNA1, BUB1, GSK3B, CDK9, PCK1, VHL, ARRB2, SIRT7, TNRC6A, TXN2, PAIP1, GSPT1, GSPT2, TOB1, TOB2, IGBP1, UBC, CALM1, PABPC1, CUL3, UBR5, CHEK2, UBE2D2, UBE2D3, UTP15, WDR43, UBE2D1, MRPS18B, ATP6V1F, BARD1, VCP, TERT, RNF168, SMAD2, BIRC2, SOX2, HDAC11, ANKRD28, NR1I2, UBE2A, UBE2B, UBE2L3, SHFM1, SPRTN, AURKB, CDKN1A, CEP250, TUBG1, TUBGCP3, ATMIN, CCDC8, SIRT6, MRPL4, CALR3, MRS2, C1QBP, BUB3, XPNPEP3, BUB1B, CDC20, FBXW11, ACTR1A, EIF3I, GTF2F2, RANGAP1, SET, SRSF1, TPD52L1, CAD, EEF1A1, PSMC2, UQCRC2, NCOA1, XPO1, JAK3, KIF2A, XRCC3, NES, GEMIN5, DSN1, FOXB1, FOXG1, FOXJ2, NLRP3, CRY2, ZNF207, DPPA4, POU5F1, BAG6, GKN1, ATOH1, MOAP1, DPF3, RING1, RNF2, BMI1, UBAP2L, SUPT16H, SSRP1, SUB1, SUPT5H, NONO, APC, ZNF746, DUSP26, PDGFD, P4HA3, DDX28, F9, LYZL1, PRMT2, PRSS37, STX11, PPAN, HNRNPLL, POGLUT1, ERG, TRIM25, CEP78, CCP110, C2orf40 |
| - 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 HLA-B_UBR5 |
| 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 HLA-B_UBR5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HLA-B | C0038325 | Stevens-Johnson Syndrome | 9 | CTD_human;ORPHANET |
| Hgene | HLA-B | C0041755 | Adverse reaction to drug | 5 | CTD_human |
| Hgene | HLA-B | C0013182 | Drug Allergy | 4 | CTD_human |
| Hgene | HLA-B | C0033687 | Proteinuria | 4 | CTD_human |
| Hgene | HLA-B | C0038013 | Ankylosing spondylitis | 3 | CTD_human |
| Hgene | HLA-B | C0004943 | Behcet Syndrome | 2 | CTD_human;ORPHANET |
| Hgene | HLA-B | C0011603 | Dermatitis | 2 | CTD_human |
| Hgene | HLA-B | C0026896 | Myasthenia Gravis | 2 | CTD_human |
| Hgene | HLA-B | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | HLA-B | C0011609 | Drug Eruptions | 1 | CTD_human |
| Hgene | HLA-B | C0011633 | Dermatomyositis | 1 | CTD_human |
| Hgene | HLA-B | C0015230 | Exanthema | 1 | CTD_human |
| Hgene | HLA-B | C0017638 | Glioma | 1 | CTD_human |
| Hgene | HLA-B | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | HLA-B | C0020517 | Hypersensitivity | 1 | CTD_human |
| Hgene | HLA-B | C0027697 | Nephritis | 1 | CTD_human |
| Hgene | HLA-B | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | HLA-B | C0039103 | Synovitis | 1 | CTD_human |
| Hgene | HLA-B | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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