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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 HIF1A |
 Gene summary |
| Gene information | Gene symbol | HIF1A | Gene ID | 3091 |
| Gene name | hypoxia inducible factor 1 subunit alpha | |
| Synonyms | HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 | |
| Cytomap | 14q23.2 | |
| Type of gene | protein-coding | |
| Description | hypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit | |
| Modification date | 20200329 | |
| 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 |
| HIF1A | GO:0001666 | response to hypoxia | 8756616|9887100|11782478|15261140|18419598 |
| HIF1A | GO:0006355 | regulation of transcription, DNA-templated | 11782478|15261140 |
| HIF1A | GO:0010468 | regulation of gene expression | 18419598 |
| HIF1A | GO:0010573 | vascular endothelial growth factor production | 12958148 |
| HIF1A | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
| HIF1A | GO:0010628 | positive regulation of gene expression | 15459207|24244340 |
| HIF1A | GO:0032364 | oxygen homeostasis | 16956324 |
| HIF1A | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148|8387214 |
| HIF1A | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148|9887100|25043030 |
| HIF1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
| HIF1A | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
| HIF1A | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 22735262 |
| HIF1A | GO:0071456 | cellular response to hypoxia | 11573933|19528298|20889502 |
| HIF1A | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19782034 |
| HIF1A | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 24899725 |
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Gene structures and expression levels for HIF1A |
| 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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ENSG00000100644
| 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 |
| PG | UP | ENST00000323441.10 | HIF1A-201:protein_coding:HIF1A | 1.388038e+02 | 9.508122e-01 | 1.899258e-04 | 4.387378e-03 |
| PG | UP | ENST00000553999.5 | HIF1A-206:lncRNA:HIF1A | 3.834800e+00 | 3.237813e+00 | 1.799129e-03 | 2.215813e-02 |
| CB | DOWN | ENST00000539097.2 | HIF1A-204:protein_coding:HIF1A | 1.723033e+02 | -8.043359e-01 | 3.051731e-05 | 2.704335e-04 |
| 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 HIF1A |
| 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_15753 | chr14 | 61695777:61695839:61720379:61720572:61721509:61721654 | 61720379:61720572 |
| exon_skip_174027 | chr14 | 61726706:61726818:61727453:61727655:61732418:61732524 | 61727453:61727655 |
| exon_skip_194175 | chr14 | 61695513:61695839:61720382:61720572:61721509:61721654 | 61720382:61720572 |
| exon_skip_201494 | chr14 | 61721509:61721654:61721739:61721823:61726706:61726763 | 61721739:61721823 |
| exon_skip_247065 | chr14 | 61695513:61695839:61720379:61720572:61721509:61721654 | 61720379:61720572 |
| exon_skip_47420 | chr14 | 61744705:61744813:61745691:61745817:61746934:61748258 | 61745691:61745817 |
| exon_skip_78970 | chr14 | 61695777:61695839:61720382:61720572:61721509:61721654 | 61720382:61720572 |
| 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 HIF1A |
| 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 |
| ENST00000337138 | 61720382 | 61720572 | Frame-shift |
| ENST00000337138 | 61721739 | 61721823 | Frame-shift |
| ENST00000337138 | 61745691 | 61745817 | Frame-shift |
| 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 |
| ENST00000337138 | 61745691 | 61745817 | Frame-shift |
| 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 |
| ENST00000337138 | 61721739 | 61721823 | Frame-shift |
| ENST00000337138 | 61727453 | 61727655 | Frame-shift |
| ENST00000337138 | 61745691 | 61745817 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for HIF1A |
p-ENSG00000100644_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HIF1A |
| 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 HIF1A |
| - 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 HIF1A |
| 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 HIF1A |
| 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 HIF1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ELAVL1 | exon_skip_47420 | -4.627255e-01 | 8.206376e-10 |
| CB | CNOT4 | exon_skip_47420 | -5.840784e-01 | 6.405743e-16 |
| CB | FUBP1 | exon_skip_47420 | -5.313251e-01 | 5.787190e-13 |
| CB | HNRNPA2B1 | exon_skip_47420 | -6.124444e-01 | 9.628622e-18 |
| CB | RBM45 | exon_skip_47420 | 6.569354e-01 | 5.305710e-21 |
| CB | NUP42 | exon_skip_47420 | 4.084340e-01 | 9.068252e-08 |
| CB | PTBP1 | exon_skip_47420 | -4.619791e-01 | 8.805261e-10 |
| IFG | SRSF5 | exon_skip_47420 | 4.222559e-01 | 2.519760e-02 |
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RelatedDrugs for HIF1A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q16665 | approved|investigational | DB01136 | Carvedilol | small molecule | Q16665 |
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RelatedDiseases for HIF1A |
| 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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