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Fusion gene ID: 40058 |
FusionGeneSummary for TTR_ARFGEF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TTR_ARFGEF2 | Fusion gene ID: 40058 | Hgene | Tgene | Gene symbol | TTR | ARFGEF2 | Gene ID | 7276 | 10564 |
| Gene name | transthyretin | ADP ribosylation factor guanine nucleotide exchange factor 2 | |
| Synonyms | ATTR|CTS|CTS1|HEL111|HsT2651|PALB|TBPA | BIG2|PVNH2|dJ1164I10.1 | |
| Cytomap | 18q12.1 | 20q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transthyretinepididymis luminal protein 111prealbumin, amyloidosis type Ithyroxine-binding prealbumin | brefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P02766 | Q9Y6D5 | |
| Ensembl transtripts involved in fusion gene | ENST00000237014, | ENST00000371917, ENST00000493140, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 37 X 5 X 14=2590 |
| # samples | 4 | 40 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(40/2590*10)=-2.69488019279919 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TTR [Title/Abstract] AND ARFGEF2 [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 | ARFGEF2 | GO:0001881 | receptor recycling | 16477018 |
| Tgene | ARFGEF2 | GO:0035556 | intracellular signal transduction | 12571360 |
| 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-FV-A2QR-01A | TTR | chr18 | 29178984 | + | ARFGEF2 | chr20 | 47615777 | + |
| * 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-intron | ENST00000237014 | ENST00000371917 | TTR | chr18 | 29178984 | + | ARFGEF2 | chr20 | 47615777 | + |
| intron-intron | ENST00000237014 | ENST00000493140 | TTR | chr18 | 29178984 | + | ARFGEF2 | chr20 | 47615777 | + |
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FusionProtFeatures for TTR_ARFGEF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TTR | ARFGEF2 |
| Thyroid hormone-binding protein. Probably transportsthyroxine from the bloodstream to the brain.{ECO:0000269|PubMed:3714052}. | Promotes guanine-nucleotide exchange on ARF1 and ARF3and to a lower extent on ARF5 and ARF6. Promotes the activation ofARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved inthe regulation of Golgi vesicular transport. Required for theintegrity of the endosomal compartment. Involved in traffickingfrom the trans-Golgi network (TGN) to endosomes and is requiredfor membrane association of the AP-1 complex and GGA1. Seems to beinvolved in recycling of the transferrin receptor from recyclingendosomes to the plasma membrane. Probably is involved in the exitof GABA(A) receptors from the endoplasmic reticulum. Involved inconstitutive release of tumor necrosis factor receptor 1 viaexosome-like vesicles; the function seems to involve PKA andspecifically PRKAR2B. Proposed to act as A kinase-anchoringprotein (AKAP) and may mediate crosstalk between Arf and PKApathways. {ECO:0000269|PubMed:12051703,ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15385626,ECO:0000269|PubMed:16477018, ECO:0000269|PubMed:17276987,ECO:0000269|PubMed:18625701, ECO:0000269|PubMed:20360857}. |
| 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 TTR_ARFGEF2 |
| 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 TTR_ARFGEF2 |
| 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 |
| TTR | ATF4, GET4, HNRNPH3, PHYHIP, FEZ1, MARK3, CHD3, SETDB1, VIM, DDR1, EEF1A1, IKBKAP, TTR, HSPG2, RBP4, PIK3R1, TUBA1A, ST13, A2M, TAF1C, SP110, SUMO3, RAI1, KIAA1377, CPNE6, NGFR, ZBED1, SDF4, OTUB1, INPP5K, C14orf1, QARS, PRKCI, ACTB, TAF5L, ASNA1, BAG6, CTNND2, CLU, APOA1, ALB, RNF115, MT3, CDR2, NECAB2, NPC2, DDX31, SNX27 | ARFGEF2 | FKBP2, PRKAR1A, PRKAR2A, ARFGEF1, MYC, VCP, PRPF40A, PNPLA2, CDC73, FLNC, NUP98, NUP88, PAF1, SPACA1, TMEM171, CSGALNACT1, DNAJB2, HLA-B, SDF4, CD244, SLAMF1, DTNBP1, HLA-E, LDLRAD4, ANKMY2, SNW1, FLNA, GYPB, LAMP3, FAM131B, MRAP2, CD79B, EDNRB, SIGLECL1, TMEM9B, MADCAM1, VASN, PDCD1, ICAM1, TRIM25, BRCA1 |
| - 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 TTR_ARFGEF2 |
| 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 |
| Hgene | TTR | P02766 | DB01593 | Zinc | Transthyretin | small molecule | approved|investigational |
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RelatedDiseases for TTR_ARFGEF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TTR | C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | 72 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TTR | C0011570 | Mental Depression | 5 | PSYGENET |
| Hgene | TTR | C0011581 | Depressive disorder | 5 | PSYGENET |
| Hgene | TTR | C0206245 | Amyloid Neuropathies, Familial | 4 | CTD_human |
| Hgene | TTR | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Hgene | TTR | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | TTR | C0740340 | Amyloidosis, Familial | 2 | CTD_human |
| Hgene | TTR | C2750824 | Dystransthyretinemic Euthyroidal Hyperthyroxinemia | 2 | CTD_human;UNIPROT |
| Hgene | TTR | C0002726 | Amyloidosis | 1 | CTD_human;HPO |
| Hgene | TTR | C0007286 | Carpal Tunnel Syndrome | 1 | CTD_human;UNIPROT |
| Hgene | TTR | C0011609 | Drug Eruptions | 1 | CTD_human |
| Hgene | TTR | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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