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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CNTFR |
 Gene summary |
| Gene information | Gene symbol | CNTFR | Gene ID | 1271 |
| Gene name | ciliary neurotrophic factor receptor | |
| Synonyms | - | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | ciliary neurotrophic factor receptor subunit alphaCNTF receptor subunit alphaCNTFR-alpha | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CNTFR | GO:0070120 | ciliary neurotrophic factor-mediated signaling pathway | 12643274 |
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Gene structures and expression levels for CNTFR |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000122756
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| STG | UP | 2.199428e+02 | 8.979431e-01 | 1.007110e-04 | 5.918639e-03 |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000610543.4 | CNTFR-204:protein_coding:CNTFR | 5.424013e+01 | 3.086783e+00 | 6.503036e-05 | 8.559613e-03 |
| CB | DOWN | ENST00000610543.4 | CNTFR-204:protein_coding:CNTFR | 8.769501e+02 | -1.051368e+00 | 6.089553e-05 | 4.863166e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CNTFR |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_114246 | chr9 | 34568897:34568981:34581095:34581205:34589555:34589706 | 34581095:34581205 |
| exon_skip_128892 | chr9 | 34568964:34568981:34581095:34581205:34589555:34589706 | 34581095:34581205 |
| exon_skip_162445 | chr9 | 34557526:34557692:34557867:34557984:34564599:34564698 | 34557867:34557984 |
| exon_skip_174673 | chr9 | 34568898:34568981:34581095:34581205:34589555:34589706 | 34581095:34581205 |
| exon_skip_177349 | chr9 | 34557526:34557692:34557867:34557984:34564599:34564772 | 34557867:34557984 |
| exon_skip_182863 | chr9 | 34551434:34552071:34552161:34552329:34552674:34552854 | 34552161:34552329 |
| exon_skip_20820 | chr9 | 34564599:34564832:34568897:34568981:34581095:34581205 | 34568897:34568981 |
| exon_skip_221112 | chr9 | 34557867:34557984:34564599:34564832:34568897:34568981 | 34564599:34564832 |
| exon_skip_22379 | chr9 | 34557526:34557692:34557867:34557984:34564599:34564832 | 34557867:34557984 |
| exon_skip_257190 | chr9 | 34552674:34552854:34556255:34556418:34557526:34557692 | 34556255:34556418 |
| exon_skip_54340 | chr9 | 34568897:34568981:34581095:34581205:34589555:34589641 | 34581095:34581205 |
| exon_skip_99802 | chr9 | 34568897:34568981:34581095:34581205:34590082:34590123 | 34581095:34581205 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CNTFR |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378980 | 34581095 | 34581205 | 3UTR-3UTR |
| ENST00000610543 | 34581095 | 34581205 | 3UTR-3UTR |
| ENST00000351266 | 34552161 | 34552329 | Frame-shift |
| ENST00000378980 | 34552161 | 34552329 | Frame-shift |
| ENST00000610543 | 34552161 | 34552329 | Frame-shift |
| ENST00000351266 | 34557867 | 34557984 | Frame-shift |
| ENST00000378980 | 34557867 | 34557984 | Frame-shift |
| ENST00000610543 | 34557867 | 34557984 | Frame-shift |
| ENST00000378980 | 34568897 | 34568981 | In-frame |
| ENST00000610543 | 34568897 | 34568981 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378980 | 34581095 | 34581205 | 3UTR-3UTR |
| ENST00000351266 | 34557867 | 34557984 | Frame-shift |
| ENST00000378980 | 34557867 | 34557984 | Frame-shift |
| ENST00000610543 | 34557867 | 34557984 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378980 | 34581095 | 34581205 | 3UTR-3UTR |
| ENST00000351266 | 34552161 | 34552329 | Frame-shift |
| ENST00000378980 | 34552161 | 34552329 | Frame-shift |
| ENST00000610543 | 34552161 | 34552329 | Frame-shift |
| ENST00000351266 | 34556255 | 34556418 | Frame-shift |
| ENST00000378980 | 34556255 | 34556418 | Frame-shift |
| ENST00000610543 | 34556255 | 34556418 | Frame-shift |
| ENST00000351266 | 34557867 | 34557984 | Frame-shift |
| ENST00000378980 | 34557867 | 34557984 | Frame-shift |
| ENST00000610543 | 34557867 | 34557984 | Frame-shift |
| ENST00000351266 | 34564599 | 34564832 | In-frame |
| ENST00000378980 | 34564599 | 34564832 | In-frame |
| ENST00000610543 | 34564599 | 34564832 | In-frame |
| ENST00000378980 | 34568897 | 34568981 | In-frame |
| ENST00000610543 | 34568897 | 34568981 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNTFR |
p-ENSG00000122756_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000378980 | 2069 | 372 | 34568897 | 34568981 | 295 | 378 | 0 | 28 |
| ENST00000610543 | 1943 | 372 | 34568897 | 34568981 | 171 | 254 | 0 | 28 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| ENST00000378980 | 2069 | 372 | 34568897 | 34568981 | 295 | 378 | 0 | 28 |
| ENST00000610543 | 1943 | 372 | 34568897 | 34568981 | 171 | 254 | 0 | 28 |
| ENST00000351266 | 1927 | 372 | 34564599 | 34564832 | 238 | 470 | 28 | 106 |
| ENST00000378980 | 2069 | 372 | 34564599 | 34564832 | 380 | 612 | 28 | 106 |
| ENST00000610543 | 1943 | 372 | 34564599 | 34564832 | 256 | 488 | 28 | 106 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P26992 | 0 | 28 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 0 | 28 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 0 | 28 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 0 | 28 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 0 | 28 | 1 | 22 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 0 | 28 | 1 | 22 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P26992 | 0 | 28 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 0 | 28 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 0 | 28 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 0 | 28 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 0 | 28 | 1 | 22 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 0 | 28 | 1 | 22 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 28 | 106 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 28 | 106 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 28 | 106 | 23 | 342 | Chain | ID=PRO_0000010991;Note=Ciliary neurotrophic factor receptor subunit alpha |
| P26992 | 28 | 106 | 46 | 89 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P26992 | 28 | 106 | 46 | 89 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P26992 | 28 | 106 | 46 | 89 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P26992 | 28 | 106 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 28 | 106 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 28 | 106 | 27 | 104 | Domain | Note=Ig-like C2-type |
| P26992 | 28 | 106 | 60 | 60 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 28 | 106 | 60 | 60 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 28 | 106 | 60 | 60 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 28 | 106 | 70 | 70 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 28 | 106 | 70 | 70 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26992 | 28 | 106 | 70 | 70 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNTFR |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000378980 | 34581095 | 34581205 | hsa-miR-765 | chr9:34581139-34581146 | 8mer-1a | chr9:34581127-34581147 | 155.00 | -26.29 |
| Mayo | ENST00000378980 | 34581095 | 34581205 | hsa-miR-4313 | chr9:34581175-34581182 | 8mer-1a | chr9:34581172-34581191 | 173.00 | -26.02 |
| Mayo | ENST00000378980 | 34581095 | 34581205 | hsa-miR-11181-3p | chr9:34581139-34581146 | 8mer-1a | chr9:34581127-34581147 | 155.00 | -26.29 |
| Mayo | ENST00000378980 | 34581095 | 34581205 | hsa-miR-636 | chr9:34581117-34581124 | 8mer-1a | chr9:34581117-34581137 | 155.00 | -21.95 |
| Mayo | ENST00000378980 | 34581095 | 34581205 | hsa-miR-3650 | chr9:34581111-34581118 | 8mer-1a | chr9:34581103-34581124 | 151.00 | -16.46 |
| MSBB | ENST00000378980 | 34581095 | 34581205 | hsa-miR-765 | chr9:34581139-34581146 | 8mer-1a | chr9:34581127-34581147 | 155.00 | -26.29 |
| MSBB | ENST00000378980 | 34581095 | 34581205 | hsa-miR-4313 | chr9:34581175-34581182 | 8mer-1a | chr9:34581172-34581191 | 173.00 | -26.02 |
| MSBB | ENST00000378980 | 34581095 | 34581205 | hsa-miR-11181-3p | chr9:34581139-34581146 | 8mer-1a | chr9:34581127-34581147 | 155.00 | -26.29 |
| MSBB | ENST00000378980 | 34581095 | 34581205 | hsa-miR-636 | chr9:34581117-34581124 | 8mer-1a | chr9:34581117-34581137 | 155.00 | -21.95 |
| MSBB | ENST00000378980 | 34581095 | 34581205 | hsa-miR-3650 | chr9:34581111-34581118 | 8mer-1a | chr9:34581103-34581124 | 151.00 | -16.46 |
| ROSMAP | ENST00000610543 | 34581095 | 34581205 | hsa-miR-765 | chr9:34581139-34581146 | 8mer-1a | chr9:34581127-34581147 | 155.00 | -26.29 |
| ROSMAP | ENST00000610543 | 34581095 | 34581205 | hsa-miR-4313 | chr9:34581175-34581182 | 8mer-1a | chr9:34581172-34581191 | 173.00 | -26.02 |
| ROSMAP | ENST00000610543 | 34581095 | 34581205 | hsa-miR-11181-3p | chr9:34581139-34581146 | 8mer-1a | chr9:34581127-34581147 | 155.00 | -26.29 |
| ROSMAP | ENST00000610543 | 34581095 | 34581205 | hsa-miR-636 | chr9:34581117-34581124 | 8mer-1a | chr9:34581117-34581137 | 155.00 | -21.95 |
| ROSMAP | ENST00000610543 | 34581095 | 34581205 | hsa-miR-3650 | chr9:34581111-34581118 | 8mer-1a | chr9:34581103-34581124 | 151.00 | -16.46 |
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SNVs in the skipped exons for CNTFR |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CNTFR |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNTFR |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_128892 | rs3739882 | chr9:34653112 | 1.243986e-04 | 1.103654e-02 |
| HCC | exon_skip_128892 | rs3802428 | chr9:34567202 | 2.310975e-04 | 1.827154e-02 |
| DLPFC | exon_skip_114246 | rs3802428 | chr9:34567202 | 7.757038e-04 | 4.557717e-02 |
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Correlation with RNA binding proteins (RBPs) for CNTFR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_126306 | 4.876805e-01 | 8.092490e-11 |
| CB | RALYL | exon_skip_126306 | 4.517408e-01 | 2.558033e-09 |
| CB | ZNF638 | exon_skip_114246 | 4.152531e-01 | 5.250440e-08 |
| CB | RBM6 | exon_skip_114246 | 4.012871e-01 | 1.587276e-07 |
| CB | TRA2A | exon_skip_114246 | 4.208941e-01 | 3.310095e-08 |
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RelatedDrugs for CNTFR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CNTFR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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