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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 GIPR |
 Gene summary |
| Gene information | Gene symbol | GIPR | Gene ID | 2696 |
| Gene name | gastric inhibitory polypeptide receptor | |
| Synonyms | PGQTL2 | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | gastric inhibitory polypeptide receptorGIP-Rglucose-dependent insulinotropic polypeptide receptor | |
| Modification date | 20180523 | |
| UniProtAcc | P48546 | |
| Context | PubMed: GIPR [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 |
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Exon skipping events across known transcript of Ensembl for GIPR 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 GIPR |
| 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 GIPR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308443 | 19 | 46172734:46172850:46173892:46173992:46176108:46176212 | 46173892:46173992 | ENSG00000010310.4 | ENST00000304207.8 |
| exon_skip_308445 | 19 | 46173896:46173992:46174542:46174650:46176108:46176212 | 46174542:46174650 | ENSG00000010310.4 | ENST00000263281.3,ENST00000585889.1,ENST00000590918.1 |
| exon_skip_308446 | 19 | 46176108:46176212:46177331:46177435:46177939:46178084 | 46177331:46177435 | ENSG00000010310.4 | ENST00000304207.8,ENST00000263281.3,ENST00000585889.1,ENST00000590918.1 |
| exon_skip_308450 | 19 | 46177331:46177435:46177939:46178084:46180206:46180366 | 46177939:46178084 | ENSG00000010310.4 | ENST00000304207.8,ENST00000263281.3,ENST00000585889.1,ENST00000590918.1 |
| exon_skip_308451 | 19 | 46180206:46180366:46180580:46180641:46180967:46181037 | 46180580:46180641 | ENSG00000010310.4 | ENST00000304207.8,ENST00000263281.3,ENST00000590918.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GIPR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308443 | 19 | 46172734:46172850:46173892:46173992:46176108:46176212 | 46173892:46173992 | ENSG00000010310.4 | ENST00000304207.8 |
| exon_skip_308445 | 19 | 46173896:46173992:46174542:46174650:46176108:46176212 | 46174542:46174650 | ENSG00000010310.4 | ENST00000590918.1,ENST00000263281.3,ENST00000585889.1 |
| exon_skip_308446 | 19 | 46176108:46176212:46177331:46177435:46177939:46178084 | 46177331:46177435 | ENSG00000010310.4 | ENST00000590918.1,ENST00000263281.3,ENST00000304207.8,ENST00000585889.1 |
| exon_skip_308450 | 19 | 46177331:46177435:46177939:46178084:46180206:46180366 | 46177939:46178084 | ENSG00000010310.4 | ENST00000590918.1,ENST00000263281.3,ENST00000304207.8,ENST00000585889.1 |
| exon_skip_308451 | 19 | 46180206:46180366:46180580:46180641:46180967:46181037 | 46180580:46180641 | ENSG00000010310.4 | ENST00000590918.1,ENST00000263281.3,ENST00000304207.8 |
| 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 GIPR |
| 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 |
| ENST00000590918 | 46177331 | 46177435 | Frame-shift |
| ENST00000590918 | 46177939 | 46178084 | Frame-shift |
| ENST00000590918 | 46180580 | 46180641 | Frame-shift |
| ENST00000590918 | 46174542 | 46174650 | 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 |
| ENST00000590918 | 46177331 | 46177435 | Frame-shift |
| ENST00000590918 | 46177939 | 46178084 | Frame-shift |
| ENST00000590918 | 46180580 | 46180641 | Frame-shift |
| ENST00000590918 | 46174542 | 46174650 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GIPR |
| 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 |
| ENST00000590918 | 3306 | 466 | 46174542 | 46174650 | 272 | 379 | 57 | 93 |
| 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 |
| ENST00000590918 | 3306 | 466 | 46174542 | 46174650 | 272 | 379 | 57 | 93 |
| 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 |
| P48546 | 57 | 93 | 58 | 93 | Alternative sequence | ID=VSP_053866;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48546 | 57 | 93 | 67 | 71 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HJ0 |
| P48546 | 57 | 93 | 78 | 83 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QKH |
| P48546 | 57 | 93 | 86 | 88 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HJ0 |
| P48546 | 57 | 93 | 22 | 466 | Chain | ID=PRO_0000012825;Note=Gastric inhibitory polypeptide receptor |
| P48546 | 57 | 93 | 46 | 70 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17715056;Dbxref=PMID:17715056 |
| P48546 | 57 | 93 | 61 | 103 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17715056;Dbxref=PMID:17715056 |
| P48546 | 57 | 93 | 84 | 118 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17715056;Dbxref=PMID:17715056 |
| P48546 | 57 | 93 | 62 | 62 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22412906;Dbxref=PMID:22412906 |
| P48546 | 57 | 93 | 77 | 77 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22412906;Dbxref=PMID:22412906 |
| P48546 | 57 | 93 | 91 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QKH |
| P48546 | 57 | 93 | 22 | 138 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P48546 | 57 | 93 | 58 | 93 | Alternative sequence | ID=VSP_053866;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48546 | 57 | 93 | 67 | 71 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HJ0 |
| P48546 | 57 | 93 | 78 | 83 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QKH |
| P48546 | 57 | 93 | 86 | 88 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HJ0 |
| P48546 | 57 | 93 | 22 | 466 | Chain | ID=PRO_0000012825;Note=Gastric inhibitory polypeptide receptor |
| P48546 | 57 | 93 | 46 | 70 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17715056;Dbxref=PMID:17715056 |
| P48546 | 57 | 93 | 61 | 103 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17715056;Dbxref=PMID:17715056 |
| P48546 | 57 | 93 | 84 | 118 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17715056;Dbxref=PMID:17715056 |
| P48546 | 57 | 93 | 62 | 62 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22412906;Dbxref=PMID:22412906 |
| P48546 | 57 | 93 | 77 | 77 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22412906;Dbxref=PMID:22412906 |
| P48546 | 57 | 93 | 91 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QKH |
| P48546 | 57 | 93 | 22 | 138 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for GIPR |
| - 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 |
| LUAD | TCGA-44-2656-01 | exon_skip_308451 | 46180581 | 46180641 | 46180611 | 46180611 | Frame_Shift_Del | T | - | p.V275fs |
| BLCA | TCGA-GV-A3JZ-01 | exon_skip_308450 | 46177940 | 46178084 | 46178078 | 46178078 | Nonsense_Mutation | G | A | p.W209* |
| - 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 |
| OVCAR4_OVARY | 46173893 | 46173992 | 46173921 | 46173921 | Missense_Mutation | A | G | p.E34G |
| LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46173893 | 46173992 | 46173957 | 46173957 | Missense_Mutation | G | C | p.C46S |
| LU139_LUNG | 46173893 | 46173992 | 46173957 | 46173957 | Missense_Mutation | G | C | p.C46S |
| SBC3_LUNG | 46173893 | 46173992 | 46173957 | 46173957 | Missense_Mutation | G | C | p.C46S |
| HCT116_LARGE_INTESTINE | 46173893 | 46173992 | 46173977 | 46173977 | Missense_Mutation | G | A | p.A53T |
| OCUBM_BREAST | 46174543 | 46174650 | 46174557 | 46174557 | Missense_Mutation | G | T | p.G63W |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46174543 | 46174650 | 46174566 | 46174566 | Missense_Mutation | G | A | p.D66N |
| CW2_LARGE_INTESTINE | 46174543 | 46174650 | 46174571 | 46174571 | Missense_Mutation | G | A | p.M67I |
| DKMG_CENTRAL_NERVOUS_SYSTEM | 46174543 | 46174650 | 46174575 | 46174575 | Missense_Mutation | G | A | p.V69I |
| CME1_SOFT_TISSUE | 46174543 | 46174650 | 46174618 | 46174618 | Missense_Mutation | C | T | p.S83F |
| SNU81_LARGE_INTESTINE | 46177940 | 46178084 | 46177987 | 46177987 | Missense_Mutation | C | A | p.S179Y |
| ASH3_THYROID | 46177940 | 46178084 | 46178005 | 46178005 | Missense_Mutation | C | T | p.A185V |
| G361_SKIN | 46177940 | 46178084 | 46178044 | 46178044 | Missense_Mutation | G | A | p.G198D |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46180581 | 46180641 | 46180616 | 46180616 | Missense_Mutation | G | A | p.V277I |
| HCC1195_LUNG | 46180581 | 46180641 | 46180617 | 46180617 | Missense_Mutation | T | A | p.V277D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46180581 | 46180641 | 46180628 | 46180628 | Missense_Mutation | T | C | p.Y281H |
| HS940T_FIBROBLAST | 46174543 | 46174650 | 46174639 | 46174639 | Nonsense_Mutation | G | A | p.W90* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GIPR |
| 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 GIPR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GIPR |
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RelatedDrugs for GIPR |
| 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 |
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RelatedDiseases for GIPR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GIPR | C0005910 | Body Weight | 1 | CTD_human |
| GIPR | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
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