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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 ADIPOR1 |
 Gene summary |
| Gene information | Gene symbol | ADIPOR1 | Gene ID | 51094 |
| Gene name | adiponectin receptor 1 | |
| Synonyms | ACDCR1|CGI-45|CGI45|PAQR1|TESBP1A | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | adiponectin receptor protein 1progestin and adipoQ receptor family member 1progestin and adipoQ receptor family member I | |
| Modification date | 20180523 | |
| UniProtAcc | Q96A54 | |
| Context | PubMed: ADIPOR1 [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 |
| ADIPOR1 | GO:0009755 | hormone-mediated signaling pathway | 12802337 |
| ADIPOR1 | GO:0019395 | fatty acid oxidation | 12802337 |
| ADIPOR1 | GO:0033211 | adiponectin-activated signaling pathway | 12802337 |
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Exon skipping events across known transcript of Ensembl for ADIPOR1 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 ADIPOR1 |
| 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 ADIPOR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35494 | 1 | 202909962:202910829:202911152:202911346:202912885:202913073 | 202911152:202911346 | ENSG00000159346.8 | ENST00000436244.1,ENST00000495562.1,ENST00000340990.5 |
| exon_skip_35500 | 1 | 202912891:202913073:202914110:202914297:202915566:202915738 | 202914110:202914297 | ENSG00000159346.8 | ENST00000436244.1,ENST00000340990.5,ENST00000417068.1 |
| exon_skip_35505 | 1 | 202914110:202914297:202915566:202915738:202917431:202917548 | 202915566:202915738 | ENSG00000159346.8 | ENST00000436244.1,ENST00000426229.1,ENST00000340990.5,ENST00000417068.1 |
| exon_skip_35509 | 1 | 202915566:202915738:202917431:202917548:202920057:202920292 | 202917431:202917548 | ENSG00000159346.8 | ENST00000367254.3,ENST00000436244.1,ENST00000426229.1,ENST00000340990.5,ENST00000417068.1 |
| exon_skip_35510 | 1 | 202917431:202917548:202920057:202920292:202927312:202927413 | 202920057:202920292 | ENSG00000159346.8 | ENST00000367254.3 |
| exon_skip_35513 | 1 | 202920057:202920292:202923368:202923435:202927312:202927413 | 202923368:202923435 | ENSG00000159346.8 | ENST00000426229.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADIPOR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35494 | 1 | 202909962:202910829:202911152:202911346:202912885:202913073 | 202911152:202911346 | ENSG00000159346.8 | ENST00000340990.5,ENST00000495562.1,ENST00000436244.1 |
| exon_skip_35500 | 1 | 202912891:202913073:202914110:202914297:202915566:202915738 | 202914110:202914297 | ENSG00000159346.8 | ENST00000340990.5,ENST00000436244.1,ENST00000417068.1 |
| exon_skip_35505 | 1 | 202914110:202914297:202915566:202915738:202917431:202917548 | 202915566:202915738 | ENSG00000159346.8 | ENST00000340990.5,ENST00000436244.1,ENST00000417068.1,ENST00000426229.1 |
| exon_skip_35509 | 1 | 202915566:202915738:202917431:202917548:202920057:202920292 | 202917431:202917548 | ENSG00000159346.8 | ENST00000340990.5,ENST00000436244.1,ENST00000417068.1,ENST00000367254.3,ENST00000426229.1 |
| exon_skip_35510 | 1 | 202917431:202917548:202920057:202920292:202927312:202927413 | 202920057:202920292 | ENSG00000159346.8 | ENST00000367254.3 |
| exon_skip_35513 | 1 | 202920057:202920292:202923368:202923435:202927312:202927413 | 202923368:202923435 | ENSG00000159346.8 | ENST00000426229.1 |
| 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 ADIPOR1 |
| 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 |
| ENST00000340990 | 202911152 | 202911346 | Frame-shift |
| ENST00000340990 | 202914110 | 202914297 | Frame-shift |
| ENST00000340990 | 202915566 | 202915738 | Frame-shift |
| ENST00000340990 | 202917431 | 202917548 | 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 |
| ENST00000340990 | 202911152 | 202911346 | Frame-shift |
| ENST00000340990 | 202914110 | 202914297 | Frame-shift |
| ENST00000340990 | 202915566 | 202915738 | Frame-shift |
| ENST00000340990 | 202917431 | 202917548 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ADIPOR1 |
| 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 |
| ENST00000340990 | 2194 | 375 | 202917431 | 202917548 | 441 | 557 | 47 | 86 |
| 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 |
| ENST00000340990 | 2194 | 375 | 202917431 | 202917548 | 441 | 557 | 47 | 86 |
| 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 |
| Q96A54 | 47 | 86 | 1 | 375 | Chain | ID=PRO_0000218827;Note=Adiponectin receptor protein 1 |
| Q96A54 | 47 | 86 | 1 | 136 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25855295;Dbxref=PMID:25855295 |
| 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 |
| Q96A54 | 47 | 86 | 1 | 375 | Chain | ID=PRO_0000218827;Note=Adiponectin receptor protein 1 |
| Q96A54 | 47 | 86 | 1 | 136 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25855295;Dbxref=PMID:25855295 |
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SNVs in the skipped exons for ADIPOR1 |
| - 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-A39Y-01 | exon_skip_35500 | 202914111 | 202914297 | 202914276 | 202914276 | Frame_Shift_Del | A | - | p.L151fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35509 | 202917432 | 202917548 | 202917494 | 202917494 | Frame_Shift_Del | C | - | p.V66fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_35509 | 202917432 | 202917548 | 202917518 | 202917518 | Frame_Shift_Del | G | - | p.Q58fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_35510 | 202920058 | 202920292 | 202920102 | 202920102 | Frame_Shift_Del | G | - | p.L34fs |
| LUAD | TCGA-55-A490-01 | exon_skip_35509 | 202917432 | 202917548 | 202917477 | 202917478 | Frame_Shift_Ins | - | A | p.P71fs |
| HNSC | TCGA-CV-5434-01 | exon_skip_35510 | 202920058 | 202920292 | 202920154 | 202920155 | Frame_Shift_Ins | - | G | p.A15fs |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_35494 | 202911153 | 202911346 | 202911287 | 202911287 | Nonsense_Mutation | C | A | p.E289* |
| UCS | TCGA-N9-A4PZ-01 | exon_skip_35505 | 202915567 | 202915738 | 202915580 | 202915580 | Nonsense_Mutation | C | T | p.W139* |
| UCS | TCGA-N9-A4PZ-01 | exon_skip_35505 | 202915567 | 202915738 | 202915580 | 202915580 | Nonsense_Mutation | C | T | p.W139X |
| LGG | TCGA-DU-6392-01 | exon_skip_35509 | 202917432 | 202917548 | 202917539 | 202917539 | Nonsense_Mutation | C | A | p.E51* |
| LUAD | TCGA-55-8094-01 | exon_skip_35510 | 202920058 | 202920292 | 202920093 | 202920093 | Nonsense_Mutation | C | A | p.E36* |
| - 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 |
| HEC108_ENDOMETRIUM | 202911153 | 202911346 | 202911253 | 202911253 | Missense_Mutation | A | G | p.M300T |
| HEC108_ENDOMETRIUM | 202911153 | 202911346 | 202911301 | 202911301 | Missense_Mutation | T | C | p.H284R |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202914111 | 202914297 | 202914115 | 202914115 | Missense_Mutation | A | G | p.S205P |
| GP2D_LARGE_INTESTINE | 202915567 | 202915738 | 202915609 | 202915609 | Missense_Mutation | G | A | p.R130C |
| GP5D_LARGE_INTESTINE | 202915567 | 202915738 | 202915609 | 202915609 | Missense_Mutation | G | A | p.R130C |
| MIAPACA2_PANCREAS | 202915567 | 202915738 | 202915675 | 202915675 | Missense_Mutation | C | A | p.D108Y |
| NCIH1563_LUNG | 202920058 | 202920292 | 202920066 | 202920066 | Missense_Mutation | G | C | p.P45A |
| GMEL_SKIN | 202920058 | 202920292 | 202920150 | 202920150 | Missense_Mutation | C | T | p.A17T |
| NCIH1563_LUNG | 202920058 | 202920292 | 202920191 | 202920191 | Missense_Mutation | G | C | p.S3C |
| NCIH1155_LUNG | 202911153 | 202911346 | 202911345 | 202911345 | Splice_Site | G | A | p.G269G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 202911153 | 202911346 | 202911345 | 202911345 | Splice_Site | G | T | p.G269G |
| S117_SOFT_TISSUE | 202911153 | 202911346 | 202911345 | 202911345 | Splice_Site | G | T | p.G269G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADIPOR1 |
| 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 ADIPOR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADIPOR1 |
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RelatedDrugs for ADIPOR1 |
| 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 ADIPOR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ADIPOR1 | C0021361 | Female infertility | 1 | CTD_human |
| ADIPOR1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
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