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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180527 | |
| UniProtAcc | P08069 | |
| Context | PubMed: IGF1R [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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:0051262 | protein tetramerization | 1846292 |
| IGF1R | GO:0051389 | inactivation of MAPKK activity | 12556535 |
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Exon skipping events across known transcript of Ensembl for IGF1R from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for IGF1R |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for IGF1R |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125208 | 15 | 99251059:99251336:99434553:99434866:99439985:99440078 | 99434553:99434866 | ENSG00000140443.9 | ENST00000558762.1,ENST00000559925.1,ENST00000268035.6 |
| exon_skip_125209 | 15 | 99439985:99440134:99442705:99442850:99451913:99452128 | 99442705:99442850 | ENSG00000140443.9 | ENST00000558762.1,ENST00000559925.1,ENST00000268035.6,ENST00000558898.1 |
| exon_skip_125211 | 15 | 99442705:99442850:99451913:99452128:99454543:99454627 | 99451913:99452128 | ENSG00000140443.9 | ENST00000558762.1,ENST00000559925.1,ENST00000268035.6,ENST00000558898.1 |
| exon_skip_125213 | 15 | 99465376:99465660:99467104:99467241:99467753:99467865 | 99467104:99467241 | ENSG00000140443.9 | ENST00000558762.1,ENST00000268035.6 |
| exon_skip_125214 | 15 | 99473463:99473534:99478052:99478282:99478544:99478595 | 99478052:99478282 | ENSG00000140443.9 | ENST00000558762.1,ENST00000268035.6 |
| exon_skip_125216 | 15 | 99478052:99478282:99478544:99478655:99482429:99482589 | 99478544:99478655 | ENSG00000140443.9 | ENST00000558762.1,ENST00000268035.6 |
| exon_skip_125217 | 15 | 99486151:99486281:99491802:99491937:99500289:99500521 | 99491802:99491937 | ENSG00000140443.9 | ENST00000558762.1,ENST00000268035.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IGF1R |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125208 | 15 | 99251059:99251336:99434553:99434866:99439985:99440078 | 99434553:99434866 | ENSG00000140443.9 | ENST00000268035.6,ENST00000558762.1,ENST00000559925.1 |
| exon_skip_125211 | 15 | 99442705:99442850:99451913:99452128:99454543:99454627 | 99451913:99452128 | ENSG00000140443.9 | ENST00000268035.6,ENST00000558762.1,ENST00000559925.1,ENST00000558898.1 |
| exon_skip_125213 | 15 | 99465376:99465660:99467104:99467241:99467753:99467865 | 99467104:99467241 | ENSG00000140443.9 | ENST00000268035.6,ENST00000558762.1 |
| exon_skip_125214 | 15 | 99473463:99473534:99478052:99478282:99478544:99478595 | 99478052:99478282 | ENSG00000140443.9 | ENST00000268035.6,ENST00000558762.1 |
| exon_skip_125216 | 15 | 99478052:99478282:99478544:99478655:99482429:99482589 | 99478544:99478655 | ENSG00000140443.9 | ENST00000268035.6,ENST00000558762.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268035 | 99434553 | 99434866 | Frame-shift |
| ENST00000268035 | 99442705 | 99442850 | Frame-shift |
| ENST00000268035 | 99451913 | 99452128 | Frame-shift |
| ENST00000268035 | 99467104 | 99467241 | Frame-shift |
| ENST00000268035 | 99478052 | 99478282 | Frame-shift |
| ENST00000268035 | 99478544 | 99478655 | In-frame |
| ENST00000268035 | 99491802 | 99491937 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268035 | 99434553 | 99434866 | Frame-shift |
| ENST00000268035 | 99451913 | 99452128 | Frame-shift |
| ENST00000268035 | 99467104 | 99467241 | Frame-shift |
| ENST00000268035 | 99478052 | 99478282 | Frame-shift |
| ENST00000268035 | 99478544 | 99478655 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IGF1R |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000268035 | 11820 | 1367 | 99478544 | 99478655 | 3798 | 3908 | 1062 | 1099 |
| ENST00000268035 | 11820 | 1367 | 99491802 | 99491937 | 4199 | 4333 | 1196 | 1240 |
| Loci of skipped exons in GTEx 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 |
| ENST00000268035 | 11820 | 1367 | 99478544 | 99478655 | 3798 | 3908 | 1062 | 1099 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| P08069 | 1062 | 1099 | 1065 | 1069 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 1071 | 1074 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 1076 | 1080 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 741 | 1367 | Chain | ID=PRO_0000016682;Note=Insulin-like growth factor 1 receptor beta chain |
| P08069 | 1062 | 1099 | 999 | 1274 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P08069 | 1062 | 1099 | 1087 | 1100 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 960 | 1367 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P08069 | 1196 | 1240 | 741 | 1367 | Chain | ID=PRO_0000016682;Note=Insulin-like growth factor 1 receptor beta chain |
| P08069 | 1196 | 1240 | 999 | 1274 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P08069 | 1196 | 1240 | 1191 | 1207 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1196 | 1240 | 1218 | 1226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1196 | 1240 | 1239 | 1248 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1196 | 1240 | 960 | 1367 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P08069 | 1196 | 1240 | 1212 | 1215 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| P08069 | 1062 | 1099 | 1065 | 1069 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 1071 | 1074 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 1076 | 1080 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 741 | 1367 | Chain | ID=PRO_0000016682;Note=Insulin-like growth factor 1 receptor beta chain |
| P08069 | 1062 | 1099 | 999 | 1274 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P08069 | 1062 | 1099 | 1087 | 1100 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1P4O |
| P08069 | 1062 | 1099 | 960 | 1367 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for IGF1R |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-CM-5861-01 | exon_skip_125209 | 99442706 | 99442850 | 99442809 | 99442809 | Frame_Shift_Del | A | - | p.L402fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_125209 | 99442706 | 99442850 | 99442809 | 99442809 | Frame_Shift_Del | A | - | p.L402fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_125209 | 99442706 | 99442850 | 99442809 | 99442809 | Frame_Shift_Del | A | - | p.N404fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125214 | 99478053 | 99478282 | 99478270 | 99478270 | Frame_Shift_Del | T | - | p.N1058fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_125216 | 99478545 | 99478655 | 99478556 | 99478556 | Frame_Shift_Del | G | - | p.L1066fs |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_125213 | 99467105 | 99467241 | 99467107 | 99467107 | Nonsense_Mutation | G | T | p.G830* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99434554 | 99434866 | 99434564 | 99434565 | Frame_Shift_Del | CA | - | p.T218fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99434554 | 99434866 | 99434570 | 99434571 | Frame_Shift_Ins | - | GC | p.G220fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99451914 | 99452128 | 99452001 | 99452002 | Frame_Shift_Ins | - | G | p.M446fs |
| HEC108_ENDOMETRIUM | 99434554 | 99434866 | 99434566 | 99434566 | Missense_Mutation | C | T | p.T218M |
| A101D_SKIN | 99434554 | 99434866 | 99434634 | 99434634 | Missense_Mutation | G | A | p.A241T |
| HS294T_SKIN | 99434554 | 99434866 | 99434634 | 99434634 | Missense_Mutation | G | A | p.A241T |
| SNGM_ENDOMETRIUM | 99434554 | 99434866 | 99434667 | 99434667 | Missense_Mutation | C | T | p.R252C |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99434554 | 99434866 | 99434688 | 99434688 | Missense_Mutation | G | A | p.V259I |
| HEC108_ENDOMETRIUM | 99434554 | 99434866 | 99434707 | 99434707 | Missense_Mutation | C | T | p.P265L |
| SNU1040_LARGE_INTESTINE | 99434554 | 99434866 | 99434736 | 99434736 | Missense_Mutation | C | T | p.R275C |
| 639V_URINARY_TRACT | 99434554 | 99434866 | 99434736 | 99434736 | Missense_Mutation | C | T | p.R275C |
| GP2D_LARGE_INTESTINE | 99434554 | 99434866 | 99434746 | 99434746 | Missense_Mutation | A | G | p.D278G |
| SKUT1_SOFT_TISSUE | 99434554 | 99434866 | 99434749 | 99434749 | Missense_Mutation | G | A | p.R279H |
| HMC18_BREAST | 99434554 | 99434866 | 99434805 | 99434805 | Missense_Mutation | A | T | p.I298F |
| NCIH196_LUNG | 99434554 | 99434866 | 99434817 | 99434817 | Missense_Mutation | G | A | p.E302K |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99434554 | 99434866 | 99434839 | 99434839 | Missense_Mutation | C | T | p.S309L |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99434554 | 99434866 | 99434841 | 99434841 | Missense_Mutation | G | A | p.G310S |
| SNU1040_LARGE_INTESTINE | 99442706 | 99442850 | 99442786 | 99442786 | Missense_Mutation | G | A | p.A395T |
| NCIH2087_LUNG | 99442706 | 99442850 | 99442832 | 99442832 | Missense_Mutation | G | T | p.G410V |
| GP2D_LARGE_INTESTINE | 99451914 | 99452128 | 99451970 | 99451970 | Missense_Mutation | A | G | p.D435G |
| GP5D_LARGE_INTESTINE | 99451914 | 99452128 | 99451970 | 99451970 | Missense_Mutation | A | G | p.D435G |
| LS411N_LARGE_INTESTINE | 99451914 | 99452128 | 99452048 | 99452048 | Missense_Mutation | G | A | p.R461H |
| SNU175_LARGE_INTESTINE | 99451914 | 99452128 | 99452077 | 99452077 | Missense_Mutation | C | T | p.R471C |
| SKN_ENDOMETRIUM | 99467105 | 99467241 | 99467143 | 99467143 | Missense_Mutation | C | T | p.P842S |
| MEWO_SKIN | 99478053 | 99478282 | 99478061 | 99478061 | Missense_Mutation | C | T | p.P989S |
| HCC2814_LUNG | 99478053 | 99478282 | 99478080 | 99478080 | Missense_Mutation | C | A | p.A995D |
| SW684_SOFT_TISSUE | 99478053 | 99478282 | 99478122 | 99478122 | Missense_Mutation | C | T | p.S1009L |
| NCIH1975_LUNG | 99478053 | 99478282 | 99478205 | 99478205 | Missense_Mutation | G | A | p.E1037K |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99478053 | 99478282 | 99478220 | 99478220 | Missense_Mutation | C | T | p.R1042C |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99478545 | 99478655 | 99478609 | 99478609 | Missense_Mutation | G | A | p.R1084Q |
| JHUEM7_ENDOMETRIUM | 99478545 | 99478655 | 99478614 | 99478614 | Missense_Mutation | G | A | p.D1086N |
| HCT15_LARGE_INTESTINE | 99478545 | 99478655 | 99478636 | 99478636 | Missense_Mutation | C | T | p.S1093F |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99491803 | 99491937 | 99491900 | 99491900 | Missense_Mutation | G | A | p.G1229S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IGF1R |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IGF1R |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IGF1R |
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RelatedDrugs for IGF1R |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P08069 | DB00046 | Insulin Lispro | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB00047 | Insulin glargine | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB00071 | Insulin Pork | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB01306 | Insulin Aspart | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB01307 | Insulin Detemir | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB01309 | Insulin Glulisine | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB09564 | Insulin Degludec | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB14751 | Mecasermin rinfabate | Insulin-like growth factor 1 receptor | biotech | approved | |
| P08069 | DB00030 | Insulin Human | Insulin-like growth factor 1 receptor | biotech | approved|investigational | |
| P08069 | DB01277 | Mecasermin | Insulin-like growth factor 1 receptor | biotech | approved|investigational | |
| P08069 | DB12267 | Brigatinib | Insulin-like growth factor 1 receptor | small molecule | approved|investigational | |
| P08069 | DB09098 | Somatrem | Insulin-like growth factor 1 receptor | biotech | approved|investigational|withdrawn |
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RelatedDiseases for IGF1R |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IGF1R | C1849157 | Insulin-Like Growth Factor I, Resistance To | 3 | CTD_human;ORPHANET;UNIPROT |
| IGF1R | C0024115 | Lung diseases | 2 | CTD_human |
| IGF1R | C0235833 | Congenital diaphragmatic hernia | 2 | CTD_human |
| IGF1R | C2239176 | Liver carcinoma | 2 | CTD_human |
| IGF1R | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| IGF1R | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| IGF1R | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| IGF1R | C0015934 | Fetal Growth Retardation | 1 | CTD_human;HPO |
| IGF1R | C0018273 | Growth Disorders | 1 | CTD_human |
| IGF1R | C0030567 | Parkinson Disease | 1 | CTD_human |
| IGF1R | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| IGF1R | C0035229 | Respiratory Insufficiency | 1 | CTD_human |
| IGF1R | C0037286 | Skin Neoplasms | 1 | CTD_human |
| IGF1R | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| IGF1R | C0752347 | Lewy Body Disease | 1 | CTD_human |
| IGF1R | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| IGF1R | C3495559 | Juvenile arthritis | 1 | CTD_human |
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