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Fusion gene ID: 3186 |
FusionGeneSummary for ATG4C_LEPR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATG4C_LEPR | Fusion gene ID: 3186 | Hgene | Tgene | Gene symbol | ATG4C | LEPR | Gene ID | 84938 | 54741 |
| Gene name | autophagy related 4C cysteine peptidase | leptin receptor overlapping transcript | |
| Synonyms | APG4-C|APG4C|AUTL1|AUTL3 | LEPR|OB-RGRP|OBRGRP|VPS55 | |
| Cytomap | 1p31.3 | 1p31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cysteine protease ATG4CAPG4 autophagy 4 homolog CATG4 autophagy related 4 homolog CAUT-like 1, cysteine endopeptidaseAUT-like 3 cysteine endopeptidaseautophagin-3autophagy-related cysteine endopeptidase 3autophagy-related protein 4 homolog C | leptin receptor gene-related proteinDnaJ (Hsp40) homolog, subfamily C, member 6OB-R gene-related proteinendospaninendospanin-1leptin receptor overlapping transcript protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96DT6 | P48357 | |
| Ensembl transtripts involved in fusion gene | ENST00000371120, ENST00000317868, | ENST00000344610, ENST00000371059, ENST00000371060, ENST00000349533, ENST00000406510, ENST00000462765, ENST00000371058, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ATG4C [Title/Abstract] AND LEPR [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 | ATG4C | GO:0006508 | proteolysis | 12446702 |
| Tgene | LEPR | GO:0046426 | negative regulation of JAK-STAT cascade | 18042720 |
| Tgene | LEPR | GO:0060400 | negative regulation of growth hormone receptor signaling pathway | 19907080 |
| Tgene | LEPR | GO:2000009 | negative regulation of protein localization to cell surface | 18042720 |
| 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 | PRAD | TCGA-G9-6342-01A | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| * 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-intron | ENST00000371120 | ENST00000344610 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000371120 | ENST00000371059 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000371120 | ENST00000371060 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000371120 | ENST00000349533 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000371120 | ENST00000406510 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000371120 | ENST00000462765 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000371120 | ENST00000371058 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000344610 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000371059 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000371060 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000349533 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000406510 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000462765 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
| 5CDS-intron | ENST00000317868 | ENST00000371058 | ATG4C | chr1 | 63307218 | + | LEPR | chr1 | 66098835 | + |
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FusionProtFeatures for ATG4C_LEPR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATG4C | LEPR |
| Cysteine protease required for the cytoplasm to vacuoletransport (Cvt) and autophagy. Is not essential for autophagydevelopment under normal conditions but is required for a properautophagic response under stressful conditions such as prolongedstarvation (By similarity). Cleaves the C-terminal amino acid ofATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminalglycine. Exposure of the glycine at the C-terminus is essentialfor ATG8 proteins conjugation to phosphatidylethanolamine (PE) andinsertion to membranes, which is necessary for autophagy. Has alsoan activity of delipidating enzyme for the PE-conjugated forms.{ECO:0000250, ECO:0000269|PubMed:21177865}. | Receptor for hormone LEP/leptin (Probable)(PubMed:22405007). On ligand binding, mediates LEP central andperipheral effects through the activation of different signalingpathways such as JAK2/STAT3 and MAPK cascade/FOS. In thehypothalamus, LEP acts as an appetite-regulating factor thatinduces a decrease in food intake and an increase in energyconsumption by inducing anorexinogenic factors and suppressingorexigenic neuropeptides, also regulates bone mass and secretionof hypothalamo-pituitary-adrenal hormones (By similarity)(PubMed:9537324). In the periphery, increases basal metabolism,influences reproductive function, regulates pancreatic beta-cellfunction and insulin secretion, is pro-angiogenic and affectsinnate and adaptive immunity (PubMed:25060689, PubMed:12504075,PubMed:8805376). Control of energy homeostasis and melanocortinproduction (stimulation of POMC and full repression of AgRPtranscription) is mediated by STAT3 signaling, whereas distinctsignals regulate NPY and the control of fertility, growth andglucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of theparabrachial nucleus. Has a specific effect on T lymphocyteresponses, differentially regulating the proliferation of naiveand memory T -ells. Leptin increases Th1 and suppresses Th2cytokine production (By similarity).{ECO:0000250|UniProtKB:P48356, ECO:0000269|PubMed:12504075,ECO:0000269|PubMed:22405007, ECO:0000269|PubMed:25060689,ECO:0000269|PubMed:8805376, ECO:0000269|PubMed:9537324,ECO:0000305|PubMed:25232147}. Isoform A: May transport LEP across the blood-brainbarrier. Binds LEP and mediates LEP endocytosis. Does not inducephosphorylation of and activate STAT3.{ECO:0000250|UniProtKB:P48356}. Isoform E: Antagonizes Isoform A and isoform B-mediatedLEP binding and endocytosis. {ECO:0000250|UniProtKB:P48356}. |
| 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 ATG4C_LEPR |
| 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 ATG4C_LEPR |
| 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 |
| ATG4C | SPTLC1, PSMD2, PSMC2, PSMC1, USP11, PRKDC, PSMC5, PSMC4, SMC1A, RAB3IL1, KLHL22, WASL, GSTA2 | LEPR | PIN1, SOCS3, JAK3, SNX6, SNX1, SNX2, SNX4, CSNK2B, RNF41, XRN1, FBXO6, BTNL8, ATP6V0D1, CDCP1, FAM19A4, SCGB1D1, NDN |
| - 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 ATG4C_LEPR |
| 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 ATG4C_LEPR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LEPR | C0028754 | Obesity | 8 | CTD_human;HPO |
| Tgene | LEPR | C0011853 | Diabetes Mellitus, Experimental | 7 | CTD_human |
| Tgene | LEPR | C0020456 | Hyperglycemia | 5 | CTD_human |
| Tgene | LEPR | C0020459 | Hyperinsulinism | 5 | CTD_human;HPO |
| Tgene | LEPR | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | CTD_human |
| Tgene | LEPR | C0020505 | Hyperphagia | 3 | CTD_human;HPO |
| Tgene | LEPR | C0001925 | Albuminuria | 2 | CTD_human |
| Tgene | LEPR | C0021655 | Insulin Resistance | 2 | CTD_human |
| Tgene | LEPR | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| Tgene | LEPR | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
| Tgene | LEPR | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | LEPR | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | LEPR | C0019209 | Hepatomegaly | 1 | CTD_human |
| Tgene | LEPR | C0020473 | Hyperlipidemia | 1 | CTD_human |
| Tgene | LEPR | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | LEPR | C0020619 | Hypogonadism | 1 | CTD_human |
| Tgene | LEPR | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| Tgene | LEPR | C0021359 | Infertility | 1 | CTD_human |
| Tgene | LEPR | C0021361 | Female infertility | 1 | CTD_human |
| Tgene | LEPR | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | LEPR | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| Tgene | LEPR | C0028756 | Obesity, Morbid | 1 | CTD_human |
| Tgene | LEPR | C0030286 | Pancreatic Diseases | 1 | CTD_human |
| Tgene | LEPR | C0032002 | Pituitary Diseases | 1 | CTD_human |
| Tgene | LEPR | C0034012 | Delayed Puberty | 1 | CTD_human;HPO |
| Tgene | LEPR | C0035243 | Respiratory Tract Infections | 1 | CTD_human |
| Tgene | LEPR | C0085207 | Gestational Diabetes | 1 | CTD_human |
| Tgene | LEPR | C0242339 | Dyslipidemias | 1 | CTD_human |
| Tgene | LEPR | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
| Tgene | LEPR | C0497406 | Overweight | 1 | CTD_human |
| Tgene | LEPR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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