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Fusion gene ID: 1242 |
FusionGeneSummary for AHR_AHR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AHR_AHR | Fusion gene ID: 1242 | Hgene | Tgene | Gene symbol | AHR | AHR | Gene ID | 196 | 196 |
| Gene name | aryl hydrocarbon receptor | aryl hydrocarbon receptor | |
| Synonyms | bHLHe76 | bHLHe76 | |
| Cytomap | 7p21.1 | 7p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aryl hydrocarbon receptorAH-receptorah receptoraromatic hydrocarbon receptorclass E basic helix-loop-helix protein 76 | aryl hydrocarbon receptorAH-receptorah receptoraromatic hydrocarbon receptorclass E basic helix-loop-helix protein 76 | |
| Modification date | 20180527 | 20180527 | |
| UniProtAcc | P35869 | P35869 | |
| Ensembl transtripts involved in fusion gene | ENST00000242057, ENST00000492120, | ENST00000242057, ENST00000492120, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: AHR [Title/Abstract] AND AHR [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 | AHR | GO:0006355 | regulation of transcription, DNA-templated | 10395741 |
| Hgene | AHR | GO:0006357 | regulation of transcription by RNA polymerase II | 15681594 |
| Hgene | AHR | GO:0006366 | transcription by RNA polymerase II | 10395741 |
| Hgene | AHR | GO:0009410 | response to xenobiotic stimulus | 7961644 |
| Hgene | AHR | GO:0009636 | response to toxic substance | 7961644 |
| Hgene | AHR | GO:0010468 | regulation of gene expression | 15681594 |
| Hgene | AHR | GO:0019933 | cAMP-mediated signaling | 17329248 |
| Hgene | AHR | GO:0030888 | regulation of B cell proliferation | 15681594 |
| Hgene | AHR | GO:0071320 | cellular response to cAMP | 17329248 |
| Hgene | AHR | GO:1904322 | cellular response to forskolin | 17329248 |
| Hgene | AHR | GO:1904613 | cellular response to 2,3,7,8-tetrachlorodibenzodioxine | 17329248 |
| Tgene | AHR | GO:0006355 | regulation of transcription, DNA-templated | 10395741 |
| Tgene | AHR | GO:0006357 | regulation of transcription by RNA polymerase II | 15681594 |
| Tgene | AHR | GO:0006366 | transcription by RNA polymerase II | 10395741 |
| Tgene | AHR | GO:0009410 | response to xenobiotic stimulus | 7961644 |
| Tgene | AHR | GO:0009636 | response to toxic substance | 7961644 |
| Tgene | AHR | GO:0010468 | regulation of gene expression | 15681594 |
| Tgene | AHR | GO:0019933 | cAMP-mediated signaling | 17329248 |
| Tgene | AHR | GO:0030888 | regulation of B cell proliferation | 15681594 |
| Tgene | AHR | GO:0071320 | cellular response to cAMP | 17329248 |
| Tgene | AHR | GO:1904322 | cellular response to forskolin | 17329248 |
| Tgene | AHR | GO:1904613 | cellular response to 2,3,7,8-tetrachlorodibenzodioxine | 17329248 |
| 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 |
| ChiTaRS3.1 | BU686796 | AHR | chr7 | 17385393 | - | AHR | chr7 | 17385163 | + |
| * 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 |
| 3UTR-3UTR | ENST00000242057 | ENST00000242057 | AHR | chr7 | 17385393 | - | AHR | chr7 | 17385163 | + |
| 3UTR-intron | ENST00000242057 | ENST00000492120 | AHR | chr7 | 17385393 | - | AHR | chr7 | 17385163 | + |
| intron-3UTR | ENST00000492120 | ENST00000242057 | AHR | chr7 | 17385393 | - | AHR | chr7 | 17385163 | + |
| intron-intron | ENST00000492120 | ENST00000492120 | AHR | chr7 | 17385393 | - | AHR | chr7 | 17385163 | + |
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FusionProtFeatures for AHR_AHR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AHR | AHR |
| Ligand-activated transcriptional activator. Binds to theXRE promoter region of genes it activates. Activates theexpression of multiple phase I and II xenobiotic chemicalmetabolizing enzyme genes (such as the CYP1A1 gene). Mediatesbiochemical and toxic effects of halogenated aromatichydrocarbons. Involved in cell-cycle regulation. Likely to play animportant role in the development and maturation of many tissues.Regulates the circadian clock by inhibiting the basal andcircadian expression of the core circadian component PER1.Inhibits PER1 by repressing the CLOCK-ARNTL/BMAL1 heterodimermediated transcriptional activation of PER1. The heterodimerARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxinresponse element (DRE) of target gene promoters and activatestheir transcription (PubMed:28602820).{ECO:0000269|PubMed:10395741, ECO:0000269|PubMed:28602820,ECO:0000269|PubMed:7961644}. | Ligand-activated transcriptional activator. Binds to theXRE promoter region of genes it activates. Activates theexpression of multiple phase I and II xenobiotic chemicalmetabolizing enzyme genes (such as the CYP1A1 gene). Mediatesbiochemical and toxic effects of halogenated aromatichydrocarbons. Involved in cell-cycle regulation. Likely to play animportant role in the development and maturation of many tissues.Regulates the circadian clock by inhibiting the basal andcircadian expression of the core circadian component PER1.Inhibits PER1 by repressing the CLOCK-ARNTL/BMAL1 heterodimermediated transcriptional activation of PER1. The heterodimerARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxinresponse element (DRE) of target gene promoters and activatestheir transcription (PubMed:28602820).{ECO:0000269|PubMed:10395741, ECO:0000269|PubMed:28602820,ECO:0000269|PubMed:7961644}. |
| 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 AHR_AHR |
| 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 AHR_AHR |
| 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 |
| - 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 AHR_AHR |
| 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 | AHR | P35869 | DB01076 | Atorvastatin | Aryl hydrocarbon receptor | small molecule | approved |
| Hgene | AHR | P35869 | DB11577 | Indigotindisulfonic Acid | Aryl hydrocarbon receptor | small molecule | approved |
| Hgene | AHR | P35869 | DB00379 | Mexiletine | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Hgene | AHR | P35869 | DB00393 | Nimodipine | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Hgene | AHR | P35869 | DB00499 | Flutamide | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Hgene | AHR | P35869 | DB01097 | Leflunomide | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Hgene | AHR | P35869 | DB08995 | Diosmin | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Hgene | AHR | P35869 | DB00338 | Omeprazole | Aryl hydrocarbon receptor | small molecule | approved|investigational|vet_approved |
| Tgene | AHR | P35869 | DB01076 | Atorvastatin | Aryl hydrocarbon receptor | small molecule | approved |
| Tgene | AHR | P35869 | DB11577 | Indigotindisulfonic Acid | Aryl hydrocarbon receptor | small molecule | approved |
| Tgene | AHR | P35869 | DB00379 | Mexiletine | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Tgene | AHR | P35869 | DB00393 | Nimodipine | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Tgene | AHR | P35869 | DB00499 | Flutamide | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Tgene | AHR | P35869 | DB01097 | Leflunomide | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Tgene | AHR | P35869 | DB08995 | Diosmin | Aryl hydrocarbon receptor | small molecule | approved|investigational |
| Tgene | AHR | P35869 | DB00338 | Omeprazole | Aryl hydrocarbon receptor | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for AHR_AHR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AHR | C0021368 | Inflammation | 2 | CTD_human |
| Hgene | AHR | C0023895 | Liver diseases | 2 | CTD_human |
| Hgene | AHR | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Hgene | AHR | C0333641 | Atrophic | 2 | CTD_human |
| Hgene | AHR | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | AHR | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | AHR | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | AHR | C0004153 | Atherosclerosis | 1 | CTD_human |
| Hgene | AHR | C0005612 | Birth Weight | 1 | CTD_human |
| Hgene | AHR | C0005683 | Urinary Bladder Calculi (disorder) | 1 | CTD_human |
| Hgene | AHR | C0005974 | Bone Resorption | 1 | CTD_human |
| Hgene | AHR | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Hgene | AHR | C0018273 | Growth Disorders | 1 | CTD_human |
| Hgene | AHR | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | AHR | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | AHR | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | AHR | C0020564 | Hypertrophy | 1 | CTD_human |
| Hgene | AHR | C0020578 | Hyperventilation | 1 | CTD_human |
| Hgene | AHR | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | AHR | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | AHR | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | AHR | C0025517 | Metabolic Diseases | 1 | CTD_human |
| Hgene | AHR | C0027540 | Necrosis | 1 | CTD_human |
| Hgene | AHR | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | AHR | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | AHR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | AHR | C0028754 | Obesity | 1 | CTD_human |
| Hgene | AHR | C0032285 | Pneumonia | 1 | CTD_human |
| Hgene | AHR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | AHR | C0037116 | Silicosis | 1 | CTD_human |
| Hgene | AHR | C0037997 | Splenic Diseases | 1 | CTD_human |
| Hgene | AHR | C0038002 | Splenomegaly | 1 | CTD_human |
| Hgene | AHR | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | AHR | C0039231 | Tachycardia | 1 | CTD_human |
| Hgene | AHR | C0040336 | Tobacco Use Disorder | 1 | CTD_human |
| Hgene | AHR | C0041955 | Ureteral Neoplasms | 1 | CTD_human |
| Hgene | AHR | C0042373 | Vascular Diseases | 1 | CTD_human |
| Hgene | AHR | C0043094 | Weight Gain | 1 | CTD_human |
| Hgene | AHR | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | AHR | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Hgene | AHR | C0236811 | Chronobiology Disorders | 1 | CTD_human |
| Hgene | AHR | C0242339 | Dyslipidemias | 1 | CTD_human |
| Hgene | AHR | C0242706 | Hyperoxia | 1 | CTD_human |
| Hgene | AHR | C0273115 | Lung Injury | 1 | CTD_human |
| Hgene | AHR | C0559470 | Allergy to peanuts | 1 | CTD_human |
| Hgene | AHR | C0700501 | Congenital nystagmus | 1 | CTD_human |
| Hgene | AHR | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Hgene | AHR | C2931037 | Pancreatic cancer, adult | 1 | CTD_human |
| Hgene | AHR | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | AHR | C0021368 | Inflammation | 2 | CTD_human |
| Tgene | AHR | C0023895 | Liver diseases | 2 | CTD_human |
| Tgene | AHR | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Tgene | AHR | C0333641 | Atrophic | 2 | CTD_human |
| Tgene | AHR | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Tgene | AHR | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | AHR | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | AHR | C0004153 | Atherosclerosis | 1 | CTD_human |
| Tgene | AHR | C0005612 | Birth Weight | 1 | CTD_human |
| Tgene | AHR | C0005683 | Urinary Bladder Calculi (disorder) | 1 | CTD_human |
| Tgene | AHR | C0005974 | Bone Resorption | 1 | CTD_human |
| Tgene | AHR | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Tgene | AHR | C0018273 | Growth Disorders | 1 | CTD_human |
| Tgene | AHR | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Tgene | AHR | C0018800 | Cardiomegaly | 1 | CTD_human |
| Tgene | AHR | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | AHR | C0020564 | Hypertrophy | 1 | CTD_human |
| Tgene | AHR | C0020578 | Hyperventilation | 1 | CTD_human |
| Tgene | AHR | C0021364 | Male infertility | 1 | CTD_human |
| Tgene | AHR | C0021655 | Insulin Resistance | 1 | CTD_human |
| Tgene | AHR | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | AHR | C0025517 | Metabolic Diseases | 1 | CTD_human |
| Tgene | AHR | C0027540 | Necrosis | 1 | CTD_human |
| Tgene | AHR | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | AHR | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | AHR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Tgene | AHR | C0028754 | Obesity | 1 | CTD_human |
| Tgene | AHR | C0032285 | Pneumonia | 1 | CTD_human |
| Tgene | AHR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | AHR | C0037116 | Silicosis | 1 | CTD_human |
| Tgene | AHR | C0037997 | Splenic Diseases | 1 | CTD_human |
| Tgene | AHR | C0038002 | Splenomegaly | 1 | CTD_human |
| Tgene | AHR | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | AHR | C0039231 | Tachycardia | 1 | CTD_human |
| Tgene | AHR | C0040336 | Tobacco Use Disorder | 1 | CTD_human |
| Tgene | AHR | C0041955 | Ureteral Neoplasms | 1 | CTD_human |
| Tgene | AHR | C0042373 | Vascular Diseases | 1 | CTD_human |
| Tgene | AHR | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | AHR | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Tgene | AHR | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | AHR | C0236811 | Chronobiology Disorders | 1 | CTD_human |
| Tgene | AHR | C0242339 | Dyslipidemias | 1 | CTD_human |
| Tgene | AHR | C0242706 | Hyperoxia | 1 | CTD_human |
| Tgene | AHR | C0273115 | Lung Injury | 1 | CTD_human |
| Tgene | AHR | C0559470 | Allergy to peanuts | 1 | CTD_human |
| Tgene | AHR | C0700501 | Congenital nystagmus | 1 | CTD_human |
| Tgene | AHR | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Tgene | AHR | C2931037 | Pancreatic cancer, adult | 1 | CTD_human |
| Tgene | AHR | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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