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Fusion gene ID: 15076 |
FusionGeneSummary for GOLPH3L_ARNT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GOLPH3L_ARNT | Fusion gene ID: 15076 | Hgene | Tgene | Gene symbol | GOLPH3L | ARNT | Gene ID | 55204 | 375056 |
| Gene name | golgi phosphoprotein 3 like | MIA SH3 domain ER export factor 3 | |
| Synonyms | GPP34R | ARNT|D320|TANGO|TANGO1|UNQ6077 | |
| Cytomap | 1q21.3 | 1q41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Golgi phosphoprotein 3-likeGPP34-related protein | transport and Golgi organization protein 1 homologC219-reactive peptideMIA family member 3, ER export factormelanoma inhibitory activity family, member 3melanoma inhibitory activity protein 3transport and Golgi organization protein 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H4A5 | P27540 | |
| Ensembl transtripts involved in fusion gene | ENST00000271732, ENST00000540514, ENST00000479757, | ENST00000358595, ENST00000354396, ENST00000515192, ENST00000505755, ENST00000468970, | |
| Fusion gene scores | * DoF score | 6 X 4 X 6=144 | 6 X 3 X 4=72 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GOLPH3L [Title/Abstract] AND ARNT [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 | ARNT | GO:0002687 | positive regulation of leukocyte migration | 17726152 |
| Tgene | ARNT | GO:0007162 | negative regulation of cell adhesion | 17726152 |
| Tgene | ARNT | GO:0030336 | negative regulation of cell migration | 17044017 |
| Tgene | ARNT | GO:0042060 | wound healing | 17044017 |
| 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 | LIHC | TCGA-GJ-A6C0-01A | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| * 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 |
| Frame-shift | ENST00000271732 | ENST00000358595 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000271732 | ENST00000354396 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000271732 | ENST00000515192 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000271732 | ENST00000505755 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| 5CDS-intron | ENST00000271732 | ENST00000468970 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000540514 | ENST00000358595 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000540514 | ENST00000354396 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000540514 | ENST00000515192 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| Frame-shift | ENST00000540514 | ENST00000505755 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| 5CDS-intron | ENST00000540514 | ENST00000468970 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| intron-3CDS | ENST00000479757 | ENST00000358595 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| intron-3CDS | ENST00000479757 | ENST00000354396 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| intron-3CDS | ENST00000479757 | ENST00000515192 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| intron-3CDS | ENST00000479757 | ENST00000505755 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
| intron-intron | ENST00000479757 | ENST00000468970 | GOLPH3L | chr1 | 150667132 | - | ARNT | chr1 | 150790506 | - |
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FusionProtFeatures for GOLPH3L_ARNT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GOLPH3L | ARNT |
| Phosphatidylinositol-4-phosphate-binding protein thatmay antagonize the action of GOLPH3 which is required for theprocess of vesicle budding at the Golgi and anterograde transportto the plasma membrane. {ECO:0000269|PubMed:23345592}. | Required for activity of the Ah (dioxin) receptor. Thisprotein is required for the ligand-binding subunit to translocatefrom the cytosol to the nucleus after ligand binding. The complexthen initiates transcription of genes involved in the activationof PAH procarcinogens. The heterodimer binds to core DNA sequence5'-TACGTG-3' within the hypoxia response element (HRE) of targetgene promoters and functions as a transcriptional regulator of theadaptive response to hypoxia (By similarity). The heterodimerARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxinresponse element (DRE) of target gene promoters and activatestheir transcription (PubMed:28396409).{ECO:0000250|UniProtKB:P53762, ECO:0000269|PubMed:28396409}. |
| 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 GOLPH3L_ARNT |
| 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 GOLPH3L_ARNT |
| 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 |
| GOLPH3L | ELAVL1, VCP, HTT, LNX1, SHMT2, MOV10, ZDHHC17, RWDD2B, PNKD, C3orf58, ARL6IP1, GPRC5C, P2RX1, CHST6, C5AR2, S1PR1, TNFRSF8, GLB1L2, SLC39A5, ENTPD7 | ARNT | SIM2, SIM1, NPAS4, AHR, NCOA2, SP1, PTGES3, AIP, HIF1A, GTF2F1, GTF2F2, AHRR, RB1, PML, EPAS1, BRCA1, CUL2, TCEB2, EP300, ELAVL1, NCOA7, NCOR2, HEY2, HEY1, SMAD9, MTA3, DIABLO, ADH5, TNFAIP1, GMNN, IRAK4, LSM8, STRBP, PIAS2, C1QTNF2, BCAT1, FOXR2, DCAF15, NCOA1, HERC2, CREB1, FOXN1, TUBB2A, JUN, ESR1, NPAS1, NARFL, HSPA8, SHMT1, SLX1A |
| - 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 GOLPH3L_ARNT |
| 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 GOLPH3L_ARNT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ARNT | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | ARNT | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | ARNT | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | ARNT | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | ARNT | C0025202 | melanoma | 1 | CTD_human |
| Tgene | ARNT | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Tgene | ARNT | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Tgene | ARNT | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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