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Fusion gene ID: 3622 |
FusionGeneSummary for AUTS2_CFTR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AUTS2_CFTR | Fusion gene ID: 3622 | Hgene | Tgene | Gene symbol | AUTS2 | CFTR | Gene ID | 26053 | 1080 |
| Gene name | AUTS2, activator of transcription and developmental regulator | cystic fibrosis transmembrane conductance regulator | |
| Synonyms | FBRSL2|MRD26 | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 | |
| Cytomap | 7q11.22 | 7q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | autism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1 | cystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q8WXX7 | P13569 | |
| Ensembl transtripts involved in fusion gene | ENST00000406775, ENST00000342771, ENST00000403018, ENST00000489774, | ENST00000003084, ENST00000454343, ENST00000608965, | |
| Fusion gene scores | * DoF score | 19 X 15 X 7=1995 | 9 X 7 X 8=504 |
| # samples | 19 | 8 | |
| ** MAII score | log2(19/1995*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/504*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AUTS2 [Title/Abstract] AND CFTR [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 | AUTS2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25519132 |
| Hgene | AUTS2 | GO:0051571 | positive regulation of histone H3-K4 methylation | 25519132 |
| Hgene | AUTS2 | GO:2000620 | positive regulation of histone H4-K16 acetylation | 25519132 |
| Tgene | CFTR | GO:0015701 | bicarbonate transport | 15010471|19019741 |
| Tgene | CFTR | GO:1902476 | chloride transmembrane transport | 11524016|11707463|19019741 |
| Tgene | CFTR | GO:1902943 | positive regulation of voltage-gated chloride channel activity | 22006324 |
| Tgene | CFTR | GO:1904322 | cellular response to forskolin | 15010471|19621064 |
| 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 | LUAD | TCGA-86-8673-01A | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| * 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 | ENST00000406775 | ENST00000003084 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| Frame-shift | ENST00000406775 | ENST00000454343 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| 5CDS-intron | ENST00000406775 | ENST00000608965 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| Frame-shift | ENST00000342771 | ENST00000003084 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| Frame-shift | ENST00000342771 | ENST00000454343 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| 5CDS-intron | ENST00000342771 | ENST00000608965 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| intron-3CDS | ENST00000403018 | ENST00000003084 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| intron-3CDS | ENST00000403018 | ENST00000454343 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| intron-intron | ENST00000403018 | ENST00000608965 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| 3UTR-3CDS | ENST00000489774 | ENST00000003084 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| 3UTR-3CDS | ENST00000489774 | ENST00000454343 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
| 3UTR-intron | ENST00000489774 | ENST00000608965 | AUTS2 | chr7 | 70163606 | + | CFTR | chr7 | 117144307 | + |
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FusionProtFeatures for AUTS2_CFTR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AUTS2 | CFTR |
| Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132). ThePRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP andAUTS2 has decreased histone H2A ubiquitination activity, due tothe phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As aconsequence, the complex mediates transcriptional activation(PubMed:25519132). In the cytoplasm, plays a role in axon anddendrite elongation and in neuronal migration during embryonicbrain development. Promotes reorganization of the actincytoskeleton, lamellipodia formation and neurite elongation viaits interaction with RAC guanine nucleotide exchange factors,which then leads to the activation of RAC1 (By similarity).{ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}. | Epithelial ion channel that plays an important role inthe regulation of epithelial ion and water transport and fluidhomeostasis (PubMed:26823428). Mediates the transport of chlorideions across the cell membrane (PubMed:10792060, PubMed:11524016,PubMed:11707463, PubMed:12519745, PubMed:15010471,PubMed:12588899, PubMed:17036051, PubMed:19398555,PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898,PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731,PubMed:26846474, PubMed:28087700). Channel activity is coupled toATP hydrolysis (PubMed:8910473). The ion channel is also permeableto HCO(3-); selectivity depends on the extracellular chlorideconcentration (PubMed:15010471, PubMed:19019741). Exerts itsfunction also by modulating the activity of other ion channels andtransporters (PubMed:12403779, PubMed:22178883, PubMed:22121115,PubMed:27941075). Plays an important role in airway fluidhomeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428).Contributes to the regulation of the pH and the ion content of theairway surface fluid layer and thereby plays an important role indefense against pathogens (PubMed:14668433, PubMed:16645176,PubMed:26823428). Modulates the activity of the epithelial sodiumchannel (ENaC) complex, in part by regulating the cell surfaceexpression of the ENaC complex (PubMed:17434346, PubMed:27941075,PubMed:17182731). Inhibits the activity of the ENaC channelcontaining subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731).Inhibits the activity of the ENaC channel containing subunitsSCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containingsubunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulatebicarbonate secretion and salvage in epithelial cells byregulating the transporter SLC4A7 (PubMed:12403779). Can inhibitthe chloride channel activity of ANO1 (PubMed:22178883). Plays arole in the chloride and bicarbonate homeostasis during spermepididymal maturation and capacitation (PubMed:19923167,PubMed:27714810). {ECO:0000269|PubMed:10792060,ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463,ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745,ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899,ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471,ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051,ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731,ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555,ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883,ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831,ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474,ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075,ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473,ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}. |
| 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 AUTS2_CFTR |
| 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 AUTS2_CFTR |
| 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 |
| AUTS2 | PCGF3, PCGF5, RNF2, CSNK2A2, RYBP, RING1, YAF2, CSNK2A1, CSNK2B, DCAF7, FBRS, EP300, RERE, RBM14, ZNF608, ZNF609, TLE3, WDR5, PCGF6, ATN1 | CFTR | GOPC, KCNJ1, PDZD3, SLC9A3R1, STX1A, HSPA8, DNAJB1, DNAJA1, PRKCE, SNAP23, PRKAA1, PDZK1, CLCN3, SLC9A3R2, EZR, CFTR, DNAJC5, AMFR, VCP, STUB1, HDAC6, HSP90AA1, USP10, COMMD1, CBL, NEDD4, JKAMP, RNF5, UBE3A, PSMA3, RAB5A, RAB11A, HSPA4, PRKACA, DERL1, AHSA1, BCAP31, NHS, CANX, BAG1, HSPB1, HSPB2, USP19, KPNB1, IPO7, CFL1, DNAJA2, PPP2CA, CSE1L, PPP2R2A, RCN1, GNB2L1, RCN2, SEPT11, RANBP1, XPO1, PPP2R1B, ATP2A2, CCT3, SEC61A1, BAG2, TNPO3, HSPA1A, NRIP3, RHOT1, HSPA2, CALU, CCT4, NPEPPS, RAN, FARSA, P4HA1, KIF5C, HSPA6, SNX4, B3GNT9, IPO11, KIF5B, KIF3A, DTL, APC, VIPR1, USP9X, PKD1, CSTB, TCEB2, S100A9, HSP90AB1, PSME2, LGALS3, S100A7, TFG, THEM6, SQRDL, HSPD1, HSPA1L, PPP2R1A, SPTLC1, AIFM1, PSMD2, TMEM43, BCR, RYR2, TCEB1, PCMT1, PDCD6, EMD, SEC61A2, SFXN3, LGALS4, FAM120A, COPB1, LMO7, VPS4A, ATXN2L, TRIP12, PRKDC, CD59, SH3BGRL2, MARCKSL1, LIN7C, HAX1, CLINT1, MS4A5, GNA11, CLTA, EPCAM, ATAD3A, LRRFIP2, EPS8, GNAI2, CLTCL1, GRN, PSAP, CDH1, REPS1, PLEKHA6, XPNPEP3, DAB2, FLOT2, SNX9, IL1RAPL1, CEP170, RYK, TJP3, MUC13, ADCY8, CLCA1, TIAM1, SVIL, SORL1, ERLIN2, PSMB3, SIGMAR1, PSMB1, ERLIN1, CCDC51, PSMB4, PTGES3, PPIB, PSMC4, SARAF, EMC2, IPO9, CAND1, IPO5, PPP2R2B, SEPT6, PTPLAD1, ESYT1, PSMD11, ERBB2IP, DCLK1, SEPT9, ATP2A1, A2M, PCDHB8, AKAP6, MED12, RYR3, MARCH2, ABCC4, HSPH1, UBE2I, SQSTM1, EEA1, SLC4A7, TFAP2A, MYO6, RNF185, JAK1 |
| - 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 AUTS2_CFTR |
| 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 |
| Tgene | CFTR | P13569 | DB00887 | Bumetanide | Cystic fibrosis transmembrane conductance regulator | small molecule | approved |
| Tgene | CFTR | P13569 | DB01016 | Glyburide | Cystic fibrosis transmembrane conductance regulator | small molecule | approved |
| Tgene | CFTR | P13569 | DB01050 | Ibuprofen | Cystic fibrosis transmembrane conductance regulator | small molecule | approved |
| Tgene | CFTR | P13569 | DB08820 | Ivacaftor | Cystic fibrosis transmembrane conductance regulator | small molecule | approved |
| Tgene | CFTR | P13569 | DB09280 | Lumacaftor | Cystic fibrosis transmembrane conductance regulator | small molecule | approved |
| Tgene | CFTR | P13569 | DB09213 | Dexibuprofen | Cystic fibrosis transmembrane conductance regulator | small molecule | approved|investigational |
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RelatedDiseases for AUTS2_CFTR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AUTS2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | AUTS2 | C0014544 | Epilepsy | 1 | CTD_human |
| Tgene | CFTR | C0010674 | Cystic Fibrosis | 52 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CFTR | C0403814 | Congenital bilateral aplasia of vas deferens | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CFTR | C0021364 | Male infertility | 2 | CTD_human;HPO |
| Tgene | CFTR | C0030305 | Pancreatitis | 2 | CTD_human |
| Tgene | CFTR | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | CFTR | C0004509 | Azoospermia | 1 | CTD_human;HPO |
| Tgene | CFTR | C0008340 | Choledochal Cyst | 1 | CTD_human |
| Tgene | CFTR | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | CFTR | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | CFTR | C0035455 | Rhinitis | 1 | CTD_human |
| Tgene | CFTR | C0037199 | Sinusitis | 1 | CTD_human |
| Tgene | CFTR | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | CTD_human |
| Tgene | CFTR | C0149521 | Pancreatitis, Chronic | 1 | CTD_human |
| Tgene | CFTR | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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