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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 INSR |
 Gene summary |
| Gene information | Gene symbol | INSR | Gene ID | 3643 |
| Gene name | insulin receptor | |
| Synonyms | CD220|HHF5 | |
| Cytomap | 19p13.2 | |
| Type of gene | protein-coding | |
| Description | insulin receptorIR | |
| Modification date | 20180523 | |
| UniProtAcc | P06213 | |
| Context | PubMed: INSR [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 |
| INSR | GO:0001934 | positive regulation of protein phosphorylation | 7556070 |
| INSR | GO:0007186 | G-protein coupled receptor signaling pathway | 9092559 |
| INSR | GO:0008284 | positive regulation of cell proliferation | 17925406 |
| INSR | GO:0008286 | insulin receptor signaling pathway | 6849137|8440175|20455999 |
| INSR | GO:0018108 | peptidyl-tyrosine phosphorylation | 8496180 |
| INSR | GO:0032148 | activation of protein kinase B activity | 7556070 |
| INSR | GO:0032869 | cellular response to insulin stimulus | 8440175 |
| INSR | GO:0043410 | positive regulation of MAPK cascade | 20455999 |
| INSR | GO:0045725 | positive regulation of glycogen biosynthetic process | 17925406 |
| INSR | GO:0046326 | positive regulation of glucose import | 3518947 |
| INSR | GO:0046777 | protein autophosphorylation | 6849137|8496180 |
| INSR | GO:0051290 | protein heterotetramerization | 1898103 |
| INSR | GO:0060267 | positive regulation of respiratory burst | 9092559 |
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Exon skipping events across known transcript of Ensembl for INSR 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 INSR |
| 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 INSR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_314003 | 19 | 7142826:7143101:7150507:7150543:7152736:7152938 | 7150507:7150543 | ENSG00000171105.9 | ENST00000302850.5 |
| exon_skip_314005 | 19 | 7152736:7152938:7163042:7163210:7166164:7166415 | 7163042:7163210 | ENSG00000171105.9 | ENST00000598216.1,ENST00000302850.5,ENST00000341500.5 |
| exon_skip_314006 | 19 | 7166164:7166415:7167978:7168105:7170547:7170762 | 7167978:7168105 | ENSG00000171105.9 | ENST00000598216.1,ENST00000302850.5,ENST00000341500.5 |
| exon_skip_314007 | 19 | 7170547:7170762:7172300:7172445:7174593:7174742 | 7172300:7172445 | ENSG00000171105.9 | ENST00000598216.1,ENST00000302850.5,ENST00000341500.5 |
| exon_skip_314010 | 19 | 7172300:7172445:7174593:7174742:7184326:7184648 | 7174593:7174742 | ENSG00000171105.9 | ENST00000598216.1,ENST00000302850.5,ENST00000341500.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for INSR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_314003 | 19 | 7142826:7143101:7150507:7150543:7152736:7152938 | 7150507:7150543 | ENSG00000171105.9 | ENST00000302850.5 |
| exon_skip_314005 | 19 | 7152736:7152938:7163042:7163210:7166164:7166415 | 7163042:7163210 | ENSG00000171105.9 | ENST00000341500.5,ENST00000302850.5,ENST00000598216.1 |
| exon_skip_314006 | 19 | 7166164:7166415:7167978:7168105:7170547:7170762 | 7167978:7168105 | ENSG00000171105.9 | ENST00000341500.5,ENST00000302850.5,ENST00000598216.1 |
| exon_skip_314007 | 19 | 7170547:7170762:7172300:7172445:7174593:7174742 | 7172300:7172445 | ENSG00000171105.9 | ENST00000341500.5,ENST00000302850.5,ENST00000598216.1 |
| exon_skip_314010 | 19 | 7172300:7172445:7174593:7174742:7184326:7184648 | 7174593:7174742 | ENSG00000171105.9 | ENST00000341500.5,ENST00000302850.5,ENST00000598216.1 |
| 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 INSR |
| 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 |
| ENST00000302850 | 7167978 | 7168105 | Frame-shift |
| ENST00000302850 | 7172300 | 7172445 | Frame-shift |
| ENST00000302850 | 7174593 | 7174742 | Frame-shift |
| ENST00000302850 | 7150507 | 7150543 | In-frame |
| ENST00000302850 | 7163042 | 7163210 | 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 |
| ENST00000302850 | 7167978 | 7168105 | Frame-shift |
| ENST00000302850 | 7172300 | 7172445 | Frame-shift |
| ENST00000302850 | 7174593 | 7174742 | Frame-shift |
| ENST00000302850 | 7150507 | 7150543 | In-frame |
| ENST00000302850 | 7163042 | 7163210 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INSR |
| 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 |
| ENST00000302850 | 4738 | 1382 | 7163042 | 7163210 | 2005 | 2172 | 620 | 676 |
| ENST00000302850 | 4738 | 1382 | 7150507 | 7150543 | 2375 | 2410 | 744 | 755 |
| 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 |
| ENST00000302850 | 4738 | 1382 | 7163042 | 7163210 | 2005 | 2172 | 620 | 676 |
| ENST00000302850 | 4738 | 1382 | 7150507 | 7150543 | 2375 | 2410 | 744 | 755 |
| 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 |
| P06213 | 620 | 676 | 626 | 631 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 633 | 636 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 638 | 643 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 654 | 658 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 28 | 758 | Chain | ID=PRO_0000016687;Note=Insulin receptor subunit alpha |
| P06213 | 620 | 676 | 674 | 899 | Disulfide bond | . |
| P06213 | 620 | 676 | 624 | 726 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P06213 | 620 | 676 | 633 | 633 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P06213 | 620 | 676 | 651 | 651 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P06213 | 620 | 676 | 666 | 669 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 635 | 635 | Natural variant | ID=VAR_079539;Note=In RMS%3B decreases post-translational processing. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28765322;Dbxref=PMID:28765322 |
| P06213 | 620 | 676 | 657 | 657 | Natural variant | ID=VAR_079540;Note=In LEPRCH%3B impairs post-translational processing. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28765322;Dbxref=PMID:28765322 |
| P06213 | 620 | 676 | 659 | 659 | Natural variant | ID=VAR_079541;Note=In LEPRCH%3B impairs post-translational processing. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28765322;Dbxref=PMID:28765322 |
| P06213 | 620 | 676 | 28 | 758 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P06213 | 744 | 755 | 745 | 756 | Alternative sequence | ID=VSP_002898;Note=In isoform Short. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2983222,ECO:0000303|Ref.13;Dbxref=PMID:15489334,PMID:2983222 |
| P06213 | 744 | 755 | 28 | 758 | Chain | ID=PRO_0000016687;Note=Insulin receptor subunit alpha |
| P06213 | 744 | 755 | 674 | 899 | Disulfide bond | . |
| P06213 | 744 | 755 | 28 | 758 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P06213 | 620 | 676 | 626 | 631 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 633 | 636 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 638 | 643 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 654 | 658 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 28 | 758 | Chain | ID=PRO_0000016687;Note=Insulin receptor subunit alpha |
| P06213 | 620 | 676 | 674 | 899 | Disulfide bond | . |
| P06213 | 620 | 676 | 624 | 726 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P06213 | 620 | 676 | 633 | 633 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P06213 | 620 | 676 | 651 | 651 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P06213 | 620 | 676 | 666 | 669 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZXB |
| P06213 | 620 | 676 | 635 | 635 | Natural variant | ID=VAR_079539;Note=In RMS%3B decreases post-translational processing. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28765322;Dbxref=PMID:28765322 |
| P06213 | 620 | 676 | 657 | 657 | Natural variant | ID=VAR_079540;Note=In LEPRCH%3B impairs post-translational processing. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28765322;Dbxref=PMID:28765322 |
| P06213 | 620 | 676 | 659 | 659 | Natural variant | ID=VAR_079541;Note=In LEPRCH%3B impairs post-translational processing. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28765322;Dbxref=PMID:28765322 |
| P06213 | 620 | 676 | 28 | 758 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P06213 | 744 | 755 | 745 | 756 | Alternative sequence | ID=VSP_002898;Note=In isoform Short. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2983222,ECO:0000303|Ref.13;Dbxref=PMID:15489334,PMID:2983222 |
| P06213 | 744 | 755 | 28 | 758 | Chain | ID=PRO_0000016687;Note=Insulin receptor subunit alpha |
| P06213 | 744 | 755 | 674 | 899 | Disulfide bond | . |
| P06213 | 744 | 755 | 28 | 758 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for INSR |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_314005 | 7163043 | 7163210 | 7163082 | 7163082 | Frame_Shift_Del | C | - | p.E664fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_314005 | 7163043 | 7163210 | 7163206 | 7163206 | Frame_Shift_Del | G | - | p.P622fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_314006 | 7167979 | 7168105 | 7168023 | 7168023 | Frame_Shift_Del | G | - | p.P522fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_314006 | 7167979 | 7168105 | 7168086 | 7168086 | Frame_Shift_Del | T | - | p.K501fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_314010 | 7174594 | 7174742 | 7174709 | 7174709 | Frame_Shift_Del | G | - | p.P336fs |
| LUAD | TCGA-MN-A4N4-01 | exon_skip_314003 | 7150508 | 7150543 | 7150532 | 7150532 | Nonsense_Mutation | G | C | p.S748* |
| BLCA | TCGA-DK-AA6U-01 | exon_skip_314006 | 7167979 | 7168105 | 7168032 | 7168032 | Nonsense_Mutation | G | T | p.Y519* |
| SKCM | TCGA-ER-A19P-06 | exon_skip_314006 | 7167979 | 7168105 | 7168046 | 7168046 | Nonsense_Mutation | T | A | p.R515* |
| SKCM | TCGA-ER-A19P-06 | exon_skip_314006 | 7167979 | 7168105 | 7168046 | 7168046 | Nonsense_Mutation | T | A | p.R515X |
| ESCA | TCGA-JY-A6FD-01 | exon_skip_314007 | 7172301 | 7172445 | 7172394 | 7172394 | Nonsense_Mutation | G | T | p.S392* |
| ESCA | TCGA-JY-A6FD-01 | exon_skip_314007 | 7172301 | 7172445 | 7172394 | 7172394 | Nonsense_Mutation | G | T | p.S392X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_314010 | 7174594 | 7174742 | 7174603 | 7174603 | Nonsense_Mutation | G | A | p.R372* |
| STAD | TCGA-CG-5721-01 | exon_skip_314003 | 7150508 | 7150543 | 7150506 | 7150506 | Splice_Site | A | G | . |
| STAD | TCGA-CG-5721-01 | exon_skip_314003 | 7150508 | 7150543 | 7150506 | 7150506 | Splice_Site | A | G | p.R756_splice |
| STAD | TCGA-B7-5816-01 | exon_skip_314006 | 7167979 | 7168105 | 7167978 | 7167978 | Splice_Site | C | T | . |
| STAD | TCGA-B7-5816-01 | exon_skip_314006 | 7167979 | 7168105 | 7167978 | 7167978 | Splice_Site | C | T | p.A537_splice |
| LUSC | TCGA-22-4604-01 | exon_skip_314006 | 7167979 | 7168105 | 7168106 | 7168106 | Splice_Site | C | A | p.C495_splice |
| - 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 |
| JHUEM1_ENDOMETRIUM | 7167979 | 7168105 | 7168023 | 7168023 | Frame_Shift_Del | G | - | p.P522fs |
| MUGCHOR1_BONE | 7172301 | 7172445 | 7172337 | 7172346 | Frame_Shift_Del | TTCCGGAAGA | - | p.FFRK408fs |
| NCIH596_LUNG | 7163043 | 7163210 | 7163135 | 7163135 | Missense_Mutation | G | A | p.S646F |
| SNUC5_LARGE_INTESTINE | 7163043 | 7163210 | 7163181 | 7163181 | Missense_Mutation | C | G | p.V631L |
| CP66MEL_SKIN | 7167979 | 7168105 | 7168024 | 7168024 | Missense_Mutation | G | A | p.P522L |
| HEC1A_ENDOMETRIUM | 7167979 | 7168105 | 7168029 | 7168029 | Missense_Mutation | C | G | p.W520C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 7167979 | 7168105 | 7168078 | 7168078 | Missense_Mutation | T | A | p.Y504F |
| CORL95_LUNG | 7172301 | 7172445 | 7172322 | 7172322 | Missense_Mutation | C | A | p.R416L |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 7172301 | 7172445 | 7172365 | 7172365 | Missense_Mutation | C | T | p.A402T |
| LNCAPCLONEFGC_PROSTATE | 7172301 | 7172445 | 7172380 | 7172380 | Missense_Mutation | T | C | p.I397V |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7172301 | 7172445 | 7172407 | 7172407 | Missense_Mutation | T | C | p.I388V |
| PEDS005TPFAD_KIDNEY | 7174594 | 7174742 | 7174600 | 7174600 | Missense_Mutation | C | T | p.G373R |
| HCT15_LARGE_INTESTINE | 7174594 | 7174742 | 7174706 | 7174706 | Missense_Mutation | C | A | p.K337N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for INSR |
| 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 INSR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INSR |
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RelatedDrugs for INSR |
| 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 |
| P06213 | DB00046 | Insulin Lispro | Insulin receptor | biotech | approved | |
| P06213 | DB00047 | Insulin glargine | Insulin receptor | biotech | approved | |
| P06213 | DB00071 | Insulin Pork | Insulin receptor | biotech | approved | |
| P06213 | DB01306 | Insulin Aspart | Insulin receptor | biotech | approved | |
| P06213 | DB01307 | Insulin Detemir | Insulin receptor | biotech | approved | |
| P06213 | DB01309 | Insulin Glulisine | Insulin receptor | biotech | approved | |
| P06213 | DB09564 | Insulin Degludec | Insulin receptor | biotech | approved | |
| P06213 | DB14751 | Mecasermin rinfabate | Insulin receptor | biotech | approved | |
| P06213 | DB00030 | Insulin Human | Insulin receptor | biotech | approved|investigational | |
| P06213 | DB01277 | Mecasermin | Insulin receptor | biotech | approved|investigational | |
| P06213 | DB12010 | Fostamatinib | Insulin receptor | small molecule | approved|investigational | |
| P06213 | DB12267 | Brigatinib | Insulin receptor | small molecule | approved|investigational |
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RelatedDiseases for INSR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| INSR | C0342278 | Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans | 18 | CTD_human;UNIPROT |
| INSR | C0265344 | Donohue Syndrome | 14 | CTD_human;ORPHANET;UNIPROT |
| INSR | C0271695 | Rabson-Mendenhall Syndrome | 7 | ORPHANET;UNIPROT |
| INSR | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 3 | HPO;UNIPROT |
| INSR | C1864952 | Hyperinsulinemic Hypoglycemia, Familial, 5 | 3 | CTD_human;ORPHANET;UNIPROT |
| INSR | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
| INSR | C0020459 | Hyperinsulinism | 2 | CTD_human;HPO |
| INSR | C0021655 | Insulin Resistance | 2 | CTD_human |
| INSR | C0024115 | Lung diseases | 2 | CTD_human |
| INSR | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| INSR | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
| INSR | C0020429 | Hyperalgesia | 1 | CTD_human |
| INSR | C0020456 | Hyperglycemia | 1 | CTD_human;HPO |
| INSR | C0030567 | Parkinson Disease | 1 | CTD_human |
| INSR | C0235833 | Congenital diaphragmatic hernia | 1 | CTD_human |
| INSR | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| INSR | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
| INSR | C0752347 | Lewy Body Disease | 1 | CTD_human |
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