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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 IGF1R |
 Gene summary |
| Gene information | Gene symbol | IGF1R | Gene ID | 3480 |
| Gene name | insulin like growth factor 1 receptor | |
| Synonyms | CD221|IGFIR|IGFR|JTK13 | |
| Cytomap | 15q26.3 | |
| Type of gene | protein-coding | |
| Description | insulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2 | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 31603204(Rs2293871 regulates HTRA1 expression and affects cerebral small vessel stroke and Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| IGF1R | GO:0043066 | negative regulation of apoptotic process | 12556535 |
| IGF1R | GO:0046328 | regulation of JNK cascade | 12556535 |
| IGF1R | GO:0046777 | protein autophosphorylation | 1846292|7679099|11162456 |
| IGF1R | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7679099 |
| IGF1R | GO:0048015 | phosphatidylinositol-mediated signaling | 7692086 |
| IGF1R | GO:0051389 | inactivation of MAPKK activity | 12556535 |
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Gene structures and expression levels for IGF1R |
| 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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ENSG00000140443
| 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 |
| CB | UP | ENST00000559925.5 | IGF1R-208:retained_intron:IGF1R | 3.277934e+00 | 9.498721e-01 | 1.278253e-02 | 4.243717e-02 |
| 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 IGF1R |
| 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_235856 | chr15 | 98922148:98922431:98923876:98924012:98924525:98924636 | 98923876:98924012 |
| exon_skip_53280 | chr15 | 98930235:98930305:98934824:98935053:98935316:98935366 | 98934824:98935053 |
| 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 IGF1R |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for IGF1R |
p-ENSG00000140443_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 IGF1R |
| 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 IGF1R |
| - 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 IGF1R |
| 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 IGF1R |
| 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 IGF1R |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for IGF1R |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P08069 | approved|investigational | DB00030 | Insulin Human | biotech | P08069 |
| P08069 | approved | DB00046 | Insulin Lispro | biotech | P08069 |
| P08069 | approved | DB00047 | Insulin glargine | biotech | P08069 |
| P08069 | approved | DB00071 | Insulin Pork | biotech | P08069 |
| P08069 | approved|investigational | DB01277 | Mecasermin | biotech | P08069 |
| P08069 | approved | DB01306 | Insulin Aspart | biotech | P08069 |
| P08069 | approved | DB01307 | Insulin Detemir | biotech | P08069 |
| P08069 | approved | DB01309 | Insulin Glulisine | biotech | P08069 |
| P08069 | approved|investigational|withdrawn | DB09098 | Somatrem | biotech | P08069 |
| P08069 | approved | DB09564 | Insulin Degludec | biotech | P08069 |
| P08069 | approved|investigational | DB12267 | Brigatinib | small molecule | P08069 |
| P08069 | approved | DB14751 | Mecasermin rinfabate | biotech | P08069 |
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RelatedDiseases for IGF1R |
| 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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