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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ARNT |
 Gene summary |
| Gene information | Gene symbol | ARNT | Gene ID | 405 |
| Gene name | aryl hydrocarbon receptor nuclear translocator | |
| Synonyms | HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2 | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | aryl hydrocarbon receptor nuclear translocatorclass E basic helix-loop-helix protein 2dioxin receptor, nuclear translocatorhypoxia-inducible factor 1, beta subunit | |
| Modification date | 20200315 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ARNT | GO:0001666 | response to hypoxia | 8756616 |
| ARNT | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
| ARNT | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148 |
| ARNT | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148 |
| ARNT | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
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Gene structures and expression levels for ARNT |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000143437
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000354396.6 | ARNT-201:protein_coding:ARNT | 1.419140e+01 | 4.320723e+00 | 1.314544e-03 | 4.436926e-02 |
| CB | UP | ENST00000505755.5 | ARNT-208:protein_coding:ARNT | 6.170823e+01 | 1.176975e+00 | 2.455606e-06 | 3.215694e-05 |
| CB | UP | ENST00000497108.6 | ARNT-206:lncRNA:ARNT | 5.275902e+00 | 8.551513e-01 | 2.362533e-04 | 1.532896e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARNT |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_140839 | chr1 | 150829110:150829227:150829904:150829965:150831818:150831903 | 150829904:150829965 |
| exon_skip_173445 | chr1 | 150816259:150816406:150816788:150816890:150817082:150817202 | 150816788:150816890 |
| exon_skip_184280 | chr1 | 150846263:150846307:150852762:150852806:150858349:150858460 | 150852762:150852806 |
| exon_skip_225845 | chr1 | 150839608:150839654:150842424:150842468:150846263:150846307 | 150842424:150842468 |
| exon_skip_237339 | chr1 | 150813172:150813338:150814077:150814239:150816259:150816400 | 150814077:150814239 |
| exon_skip_238141 | chr1 | 150836424:150836493:150839441:150839654:150846263:150846307 | 150839441:150839654 |
| exon_skip_243564 | chr1 | 150846263:150846307:150852762:150852840:150858349:150858460 | 150852762:150852840 |
| exon_skip_60151 | chr1 | 150817928:150818030:150823194:150823345:150826543:150826617 | 150823194:150823345 |
| exon_skip_69868 | chr1 | 150858349:150858460:150861247:150861302:150876543:150876568 | 150861247:150861302 |
| exon_skip_77940 | chr1 | 150829110:150829227:150829904:150829980:150831818:150831903 | 150829904:150829980 |
| exon_skip_83372 | chr1 | 150817394:150817433:150817920:150818030:150823194:150823345 | 150817920:150818030 |
| exon_skip_95511 | chr1 | 150817928:150818030:150823194:150823345:150826543:150826607 | 150823194:150823345 |
| exon_skip_97114 | chr1 | 150832334:150832399:150834538:150834640:150836280:150836493 | 150834538:150834640 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ARNT |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000358595 | 150816788 | 150816890 | Frame-shift |
| ENST00000358595 | 150823194 | 150823345 | Frame-shift |
| ENST00000358595 | 150834538 | 150834640 | Frame-shift |
| ENST00000358595 | 150817920 | 150818030 | In-frame |
| ENST00000358595 | 150842424 | 150842468 | In-frame |
| ENST00000358595 | 150852762 | 150852806 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000358595 | 150814077 | 150814239 | Frame-shift |
| ENST00000358595 | 150816788 | 150816890 | Frame-shift |
| ENST00000358595 | 150823194 | 150823345 | Frame-shift |
| ENST00000358595 | 150834538 | 150834640 | Frame-shift |
| ENST00000358595 | 150817920 | 150818030 | In-frame |
| ENST00000358595 | 150842424 | 150842468 | In-frame |
| ENST00000358595 | 150852762 | 150852806 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000358595 | 150814077 | 150814239 | Frame-shift |
| ENST00000358595 | 150816788 | 150816890 | Frame-shift |
| ENST00000358595 | 150823194 | 150823345 | Frame-shift |
| ENST00000358595 | 150829904 | 150829980 | Frame-shift |
| ENST00000358595 | 150834538 | 150834640 | Frame-shift |
| ENST00000358595 | 150817920 | 150818030 | In-frame |
| ENST00000358595 | 150842424 | 150842468 | In-frame |
| ENST00000358595 | 150852762 | 150852806 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARNT |
p-ENSG00000143437_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000358595 | 4904 | 789 | 150852762 | 150852806 | 339 | 382 | 46 | 60 |
| ENST00000358595 | 4904 | 789 | 150842424 | 150842468 | 429 | 472 | 76 | 90 |
| ENST00000358595 | 4904 | 789 | 150817920 | 150818030 | 1596 | 1705 | 465 | 501 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000358595 | 4904 | 789 | 150852762 | 150852806 | 339 | 382 | 46 | 60 |
| ENST00000358595 | 4904 | 789 | 150842424 | 150842468 | 429 | 472 | 76 | 90 |
| ENST00000358595 | 4904 | 789 | 150817920 | 150818030 | 1596 | 1705 | 465 | 501 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000358595 | 4904 | 789 | 150852762 | 150852806 | 339 | 382 | 46 | 60 |
| ENST00000358595 | 4904 | 789 | 150842424 | 150842468 | 429 | 472 | 76 | 90 |
| ENST00000358595 | 4904 | 789 | 150817920 | 150818030 | 1596 | 1705 | 465 | 501 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P27540 | 46 | 60 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 46 | 60 | 58 | 58 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P27540 | 76 | 90 | 77 | 91 | Alternative sequence | ID=VSP_002092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1852076;Dbxref=PMID:1852076 |
| P27540 | 76 | 90 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 76 | 90 | 89 | 142 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| P27540 | 76 | 90 | 77 | 77 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P27540 | 76 | 90 | 88 | 128 | Region | Note=DNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28396409;Dbxref=PMID:28396409 |
| P27540 | 465 | 501 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 465 | 501 | 424 | 467 | Domain | Note=PAC |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P27540 | 46 | 60 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 46 | 60 | 58 | 58 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P27540 | 76 | 90 | 77 | 91 | Alternative sequence | ID=VSP_002092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1852076;Dbxref=PMID:1852076 |
| P27540 | 76 | 90 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 76 | 90 | 89 | 142 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| P27540 | 76 | 90 | 77 | 77 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P27540 | 76 | 90 | 88 | 128 | Region | Note=DNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28396409;Dbxref=PMID:28396409 |
| P27540 | 465 | 501 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 465 | 501 | 424 | 467 | Domain | Note=PAC |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P27540 | 46 | 60 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 46 | 60 | 58 | 58 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P27540 | 76 | 90 | 77 | 91 | Alternative sequence | ID=VSP_002092;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1852076;Dbxref=PMID:1852076 |
| P27540 | 76 | 90 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 76 | 90 | 89 | 142 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| P27540 | 76 | 90 | 77 | 77 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P27540 | 76 | 90 | 88 | 128 | Region | Note=DNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28396409;Dbxref=PMID:28396409 |
| P27540 | 465 | 501 | 2 | 789 | Chain | ID=PRO_0000127118;Note=Aryl hydrocarbon receptor nuclear translocator |
| P27540 | 465 | 501 | 424 | 467 | Domain | Note=PAC |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARNT |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ARNT |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ARNT |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARNT |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ARNT |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_63331 | 4.816772e-01 | 3.813188e-09 |
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RelatedDrugs for ARNT |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ARNT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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