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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 LEPR |
 Gene summary |
| Gene information | Gene symbol | LEPR | Gene ID | 3953 |
| Gene name | leptin receptor | |
| Synonyms | CD295|LEP-R|LEPRD|OB-R|OBR | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | leptin receptorOB receptorhuB219 | |
| Modification date | 20180523 | |
| UniProtAcc | P48357 | |
| Context | PubMed: LEPR [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 |
| LEPR | GO:0010507 | negative regulation of autophagy | 25060689 |
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Exon skipping events across known transcript of Ensembl for LEPR 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 LEPR |
| 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 LEPR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7067 | 1 | 65991371:65991501:66031228:66031288:66036155:66036485 | 66031228:66031288 | ENSG00000116678.14 | ENST00000462765.1 |
| exon_skip_7068 | 1 | 66031228:66031288:66036155:66036485:66038008:66038132 | 66036155:66036485 | ENSG00000116678.14 | ENST00000344610.8,ENST00000406510.3,ENST00000462765.1,ENST00000371060.3,ENST00000371059.3,ENST00000349533.6,ENST00000371058.1 |
| exon_skip_7070 | 1 | 66075629:66075789:66075896:66075979:66081690:66081907 | 66075896:66075979 | ENSG00000116678.14 | ENST00000344610.8,ENST00000371060.3,ENST00000371059.3,ENST00000349533.6,ENST00000371058.1 |
| exon_skip_7072 | 1 | 66087035:66087141:66088588:66088664:66095884:66096105 | 66088588:66088664 | ENSG00000116678.14 | ENST00000371059.3 |
| exon_skip_7073 | 1 | 66087035:66087141:66088588:66088664:66098834:66101111 | 66088588:66088664 | ENSG00000116678.14 | ENST00000371060.3 |
| exon_skip_7074 | 1 | 66087035:66087141:66088588:66088664:66101873:66102785 | 66088588:66088664 | ENSG00000116678.14 | ENST00000349533.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LEPR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7067 | 1 | 65991371:65991501:66031228:66031288:66036155:66036485 | 66031228:66031288 | ENSG00000116678.14 | ENST00000462765.1 |
| exon_skip_7068 | 1 | 66031228:66031288:66036155:66036485:66038008:66038132 | 66036155:66036485 | ENSG00000116678.14 | ENST00000344610.8,ENST00000371059.3,ENST00000371060.3,ENST00000349533.6,ENST00000406510.3,ENST00000462765.1,ENST00000371058.1 |
| exon_skip_7070 | 1 | 66075629:66075789:66075896:66075979:66081690:66081907 | 66075896:66075979 | ENSG00000116678.14 | ENST00000344610.8,ENST00000371059.3,ENST00000371060.3,ENST00000349533.6,ENST00000371058.1 |
| exon_skip_7072 | 1 | 66087035:66087141:66088588:66088664:66095884:66096105 | 66088588:66088664 | ENSG00000116678.14 | ENST00000371059.3 |
| exon_skip_7073 | 1 | 66087035:66087141:66088588:66088664:66098834:66101111 | 66088588:66088664 | ENSG00000116678.14 | ENST00000371060.3 |
| exon_skip_7074 | 1 | 66087035:66087141:66088588:66088664:66101873:66102785 | 66088588:66088664 | ENSG00000116678.14 | ENST00000349533.6 |
| 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 LEPR |
| 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 |
| ENST00000349533 | 66075896 | 66075979 | Frame-shift |
| ENST00000349533 | 66088588 | 66088664 | Frame-shift |
| ENST00000349533 | 66036155 | 66036485 | 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 |
| ENST00000349533 | 66075896 | 66075979 | Frame-shift |
| ENST00000349533 | 66088588 | 66088664 | Frame-shift |
| ENST00000349533 | 66036155 | 66036485 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LEPR |
| 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 |
| ENST00000349533 | 8244 | 1165 | 66036155 | 66036485 | 226 | 555 | 13 | 123 |
| 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 |
| ENST00000349533 | 8244 | 1165 | 66036155 | 66036485 | 226 | 555 | 13 | 123 |
| 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 |
| P48357 | 13 | 123 | 22 | 1165 | Chain | ID=PRO_0000010904;Note=Leptin receptor |
| P48357 | 13 | 123 | 37 | 90 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22405007;Dbxref=PMID:22405007 |
| P48357 | 13 | 123 | 89 | 99 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22405007;Dbxref=PMID:22405007 |
| P48357 | 13 | 123 | 23 | 23 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 41 | 41 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 56 | 56 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 73 | 73 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 81 | 81 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 98 | 98 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 109 | 109 | Natural variant | ID=VAR_002703;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18987736,ECO:0000269|PubMed:8616721,ECO:0000269|PubMed:9144432,ECO:0000269|PubMed:9158141,ECO:0000269|Pub |
| P48357 | 13 | 123 | 85 | 85 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48357 | 13 | 123 | 85 | 85 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48357 | 13 | 123 | 85 | 85 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48357 | 13 | 123 | 1 | 21 | Signal peptide | . |
| P48357 | 13 | 123 | 22 | 839 | 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 |
| P48357 | 13 | 123 | 22 | 1165 | Chain | ID=PRO_0000010904;Note=Leptin receptor |
| P48357 | 13 | 123 | 37 | 90 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22405007;Dbxref=PMID:22405007 |
| P48357 | 13 | 123 | 89 | 99 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22405007;Dbxref=PMID:22405007 |
| P48357 | 13 | 123 | 23 | 23 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 41 | 41 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 56 | 56 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 73 | 73 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 81 | 81 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 98 | 98 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786864;Dbxref=PMID:9786864 |
| P48357 | 13 | 123 | 109 | 109 | Natural variant | ID=VAR_002703;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18987736,ECO:0000269|PubMed:8616721,ECO:0000269|PubMed:9144432,ECO:0000269|PubMed:9158141,ECO:0000269|Pub |
| P48357 | 13 | 123 | 85 | 85 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48357 | 13 | 123 | 85 | 85 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48357 | 13 | 123 | 85 | 85 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48357 | 13 | 123 | 1 | 21 | Signal peptide | . |
| P48357 | 13 | 123 | 22 | 839 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for LEPR |
| - 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 |
| SKCM | TCGA-BF-AAP4-01 | exon_skip_7068 | 66036156 | 66036485 | 66036212 | 66036212 | Frame_Shift_Del | T | - | p.F33fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7068 | 66036156 | 66036485 | 66036365 | 66036365 | Frame_Shift_Del | A | - | p.K84fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7068 | 66036156 | 66036485 | 66036406 | 66036406 | Frame_Shift_Del | A | - | p.R97fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_7070 | 66075897 | 66075979 | 66075917 | 66075917 | Frame_Shift_Del | T | - | p.F645fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7070 | 66075897 | 66075979 | 66075917 | 66075917 | Frame_Shift_Del | T | - | p.F645fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7070 | 66075897 | 66075979 | 66075947 | 66075947 | Frame_Shift_Del | A | - | p.K656fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_7070 | 66075897 | 66075979 | 66075956 | 66075956 | Frame_Shift_Del | A | - | p.K658fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_7068 | 66036156 | 66036485 | 66036372 | 66036373 | Frame_Shift_Ins | - | T | p.I86fs |
| HNSC | TCGA-HD-8224-01 | exon_skip_7070 | 66075897 | 66075979 | 66075955 | 66075956 | Frame_Shift_Ins | - | A | p.EK657fs |
| HNSC | TCGA-CN-6020-01 | exon_skip_7068 | 66036156 | 66036485 | 66036308 | 66036308 | Nonsense_Mutation | G | T | p.E65* |
| CESC | TCGA-JW-A5VL-01 | exon_skip_7068 | 66036156 | 66036485 | 66036336 | 66036336 | Nonsense_Mutation | C | G | p.S74* |
| HNSC | TCGA-D6-A4Z9-01 | exon_skip_7073 exon_skip_7072 exon_skip_7074 | 66088589 | 66088664 | 66088607 | 66088607 | Nonsense_Mutation | G | A | p.W872* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_7073 exon_skip_7072 exon_skip_7074 | 66088589 | 66088664 | 66088647 | 66088647 | Nonsense_Mutation | G | T | p.G886* |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_7073 exon_skip_7072 exon_skip_7074 | 66088589 | 66088664 | 66088659 | 66088659 | Nonsense_Mutation | C | T | p.Q890* |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_7067 | 66031229 | 66031288 | 66031227 | 66031227 | Splice_Site | A | G | . |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_7067 | 66031229 | 66031288 | 66031227 | 66031227 | Splice_Site | A | G | e1-2 |
| READ | TCGA-F5-6814-01 | exon_skip_7068 | 66036156 | 66036485 | 66036155 | 66036155 | Splice_Site | G | T | . |
| - 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 |
| LN229_CENTRAL_NERVOUS_SYSTEM | 66031229 | 66031288 | 66031253 | 66031253 | Frame_Shift_Del | T | - | p.I2fs |
| LN319_CENTRAL_NERVOUS_SYSTEM | 66031229 | 66031288 | 66031274 | 66031274 | Missense_Mutation | T | C | p.V9A |
| NCIH2342_LUNG | 66036156 | 66036485 | 66036249 | 66036249 | Missense_Mutation | A | G | p.D45G |
| EMCBAC1_LUNG | 66036156 | 66036485 | 66036252 | 66036252 | Missense_Mutation | A | G | p.Y46C |
| MCC13_SKIN | 66036156 | 66036485 | 66036294 | 66036294 | Missense_Mutation | C | T | p.S60L |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66036156 | 66036485 | 66036302 | 66036302 | Missense_Mutation | C | T | p.H63Y |
| NCIH2286_LUNG | 66036156 | 66036485 | 66036341 | 66036342 | Missense_Mutation | GG | AT | p.G76I |
| NCIH2286_LUNG | 66036156 | 66036485 | 66036341 | 66036341 | Missense_Mutation | G | A | p.G76S |
| NCIH2286_LUNG | 66036156 | 66036485 | 66036342 | 66036342 | Missense_Mutation | G | T | p.G76V |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66075897 | 66075979 | 66075902 | 66075902 | Missense_Mutation | A | G | p.M640V |
| UW228_CENTRAL_NERVOUS_SYSTEM | 66075897 | 66075979 | 66075969 | 66075969 | Missense_Mutation | T | C | p.L662S |
| MELJUSO_SKIN | 66088589 | 66088664 | 66088621 | 66088621 | Missense_Mutation | A | G | p.N877S |
| CW2_LARGE_INTESTINE | 66088589 | 66088664 | 66088627 | 66088627 | Missense_Mutation | A | T | p.K879M |
| NBSUSSR_AUTONOMIC_GANGLIA | 66075897 | 66075979 | 66075976 | 66075976 | Nonsense_Mutation | G | A | p.W664* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LEPR |
| 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 LEPR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LEPR |
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RelatedDrugs for LEPR |
| 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 |
| P48357 | DB09046 | Metreleptin | Leptin receptor | biotech | approved |
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RelatedDiseases for LEPR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LEPR | C0028754 | Obesity | 8 | CTD_human;HPO |
| LEPR | C0011853 | Diabetes Mellitus, Experimental | 7 | CTD_human |
| LEPR | C0020456 | Hyperglycemia | 5 | CTD_human |
| LEPR | C0020459 | Hyperinsulinism | 5 | CTD_human;HPO |
| LEPR | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | CTD_human |
| LEPR | C0020505 | Hyperphagia | 3 | CTD_human;HPO |
| LEPR | C0001925 | Albuminuria | 2 | CTD_human |
| LEPR | C0021655 | Insulin Resistance | 2 | CTD_human |
| LEPR | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| LEPR | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
| LEPR | C0015695 | Fatty Liver | 1 | CTD_human |
| LEPR | C0016059 | Fibrosis | 1 | CTD_human |
| LEPR | C0019209 | Hepatomegaly | 1 | CTD_human |
| LEPR | C0020473 | Hyperlipidemia | 1 | CTD_human |
| LEPR | C0020538 | Hypertensive disease | 1 | CTD_human |
| LEPR | C0020619 | Hypogonadism | 1 | CTD_human |
| LEPR | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| LEPR | C0021359 | Infertility | 1 | CTD_human |
| LEPR | C0021361 | Female infertility | 1 | CTD_human |
| LEPR | C0022658 | Kidney Diseases | 1 | CTD_human |
| LEPR | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| LEPR | C0028756 | Obesity, Morbid | 1 | CTD_human |
| LEPR | C0030286 | Pancreatic Diseases | 1 | CTD_human |
| LEPR | C0032002 | Pituitary Diseases | 1 | CTD_human |
| LEPR | C0034012 | Delayed Puberty | 1 | CTD_human;HPO |
| LEPR | C0035243 | Respiratory Tract Infections | 1 | CTD_human |
| LEPR | C0085207 | Gestational Diabetes | 1 | CTD_human |
| LEPR | C0242339 | Dyslipidemias | 1 | CTD_human |
| LEPR | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
| LEPR | C0497406 | Overweight | 1 | CTD_human |
| LEPR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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