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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 CNKSR2 |
 Gene summary |
| Gene information | Gene symbol | CNKSR2 | Gene ID | 22866 |
| Gene name | connector enhancer of kinase suppressor of Ras 2 | |
| Synonyms | CNK2|KSR2|MAGUIN|MRXSHG | |
| Cytomap | Xp22.12 | |
| Type of gene | protein-coding | |
| Description | connector enhancer of kinase suppressor of ras 2CNK homolog protein 2connector enhancer of KSR2membrane-associated guanylate kinase-interacting protein | |
| Modification date | 20200313 | |
| UniProtAcc | A0A2R8Y5R2, A0A2R8Y5S6, A0A2R8Y604, A0A2R8Y622, A0A2R8Y700, A0A2R8Y7A1, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CNKSR2 | GO:0035556 | intracellular signal transduction | 14597674 |
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Gene structures and expression levels for CNKSR2 |
| 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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ENSG00000149970
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| 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 |
| DLPFC | UP | ENST00000645074.1 | CNKSR2-228:protein_coding:CNKSR2 | 7.660533e+00 | 3.808354e+00 | 9.341027e-04 | 3.228334e-02 |
| PCC | UP | ENST00000646697.1 | CNKSR2-236:nonsense_mediated_decay:CNKSR2 | 1.908177e+01 | 1.623068e+00 | 7.495726e-04 | 2.128527e-02 |
| PG | UP | ENST00000645679.1 | CNKSR2-232:lncRNA:CNKSR2 | 4.166700e+00 | 4.456750e+00 | 3.975756e-06 | 2.545911e-04 |
| PG | DOWN | ENST00000647058.1 | CNKSR2-237:retained_intron:CNKSR2 | 2.695730e+01 | -8.733308e-01 | 2.929174e-05 | 1.108839e-03 |
| CB | DOWN | ENST00000642565.1 | CNKSR2-211:retained_intron:CNKSR2 | 3.401378e+02 | -8.708107e-01 | 2.187547e-08 | 5.873312e-07 |
| CB | UP | ENST00000643156.1 | CNKSR2-213:nonsense_mediated_decay:CNKSR2 | 1.464647e+02 | 2.358352e+00 | 3.947882e-08 | 9.648889e-07 |
| CB | UP | ENST00000642460.1 | CNKSR2-209:retained_intron:CNKSR2 | 5.852090e+00 | 1.150486e+00 | 1.525624e-04 | 1.060234e-03 |
| CB | DOWN | ENST00000646697.1 | CNKSR2-236:nonsense_mediated_decay:CNKSR2 | 9.994658e+01 | -1.802306e+00 | 3.282333e-04 | 2.021710e-03 |
| 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 CNKSR2 |
| 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_104342 | chrX | 21516485:21516631:21526867:21527000:21531856:21531968 | 21526867:21527000 |
| exon_skip_121230 | chrX | 21490459:21490578:21497787:21497846:21501520:21501588 | 21497787:21497846 |
| exon_skip_12357 | chrX | 21532041:21532067:21561471:21561560:21563238:21563452 | 21561471:21561560 |
| exon_skip_138973 | chrX | 21432612:21432814:21440694:21440781:21470766:21470807 | 21440694:21440781 |
| exon_skip_161291 | chrX | 21501520:21501588:21516485:21516631:21526867:21527000 | 21516485:21516631 |
| exon_skip_162983 | chrX | 21609340:21609617:21637274:21637414:21641533:21641628 | 21637274:21637414 |
| exon_skip_200502 | chrX | 21440730:21440781:21468595:21468674:21470766:21470807 | 21468595:21468674 |
| exon_skip_203420 | chrX | 21591022:21591194:21594974:21595047:21595324:21595395 | 21594974:21595047 |
| exon_skip_208716 | chrX | 21501520:21501588:21526867:21527000:21531856:21531968 | 21526867:21527000 |
| exon_skip_211824 | chrX | 21531859:21532067:21561471:21561560:21563238:21563254 | 21561471:21561560 |
| exon_skip_218843 | chrX | 21501520:21501588:21503244:21503332:21504789:21506742 | 21503244:21503332 |
| exon_skip_220963 | chrX | 21609071:21609617:21637274:21637414:21641533:21641628 | 21637274:21637414 |
| exon_skip_259730 | chrX | 21606779:21606879:21609071:21609617:21648831:21649027 | 21609071:21609617 |
| exon_skip_274880 | chrX | 21606779:21606879:21607995:21608131:21609071:21609568 | 21607995:21608131 |
| exon_skip_294008 | chrX | 21531859:21532067:21561471:21561560:21563238:21563452 | 21561471:21561560 |
| exon_skip_37467 | chrX | 21591034:21591194:21594974:21595047:21595324:21595395 | 21594974:21595047 |
| exon_skip_46313 | chrX | 21440694:21440781:21468595:21468674:21470766:21470807 | 21468595:21468674 |
| exon_skip_58966 | chrX | 21590572:21590620:21590715:21590786:21591022:21591194 | 21590715:21590786 |
| 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 CNKSR2 |
| 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 |
| ENST00000379510 | 21526867 | 21527000 | Frame-shift |
| ENST00000379510 | 21594974 | 21595047 | Frame-shift |
| ENST00000379510 | 21497787 | 21497846 | In-frame |
| ENST00000379510 | 21516485 | 21516631 | In-frame |
| ENST00000379510 | 21561471 | 21561560 | 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 |
| ENST00000379510 | 21440694 | 21440781 | Frame-shift |
| ENST00000379510 | 21594974 | 21595047 | Frame-shift |
| ENST00000379510 | 21516485 | 21516631 | In-frame |
| ENST00000379510 | 21561471 | 21561560 | In-frame |
| 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 |
| ENST00000379510 | 21526867 | 21527000 | Frame-shift |
| ENST00000379510 | 21594974 | 21595047 | Frame-shift |
| ENST00000379510 | 21609071 | 21609617 | Frame-shift |
| ENST00000379510 | 21516485 | 21516631 | In-frame |
| ENST00000379510 | 21561471 | 21561560 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNKSR2 |
p-ENSG00000149970_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 |
| ENST00000379510 | 5432 | 1034 | 21497787 | 21497846 | 962 | 1020 | 227 | 247 |
| ENST00000379510 | 5432 | 1034 | 21516485 | 21516631 | 1091 | 1236 | 270 | 319 |
| ENST00000379510 | 5432 | 1034 | 21561471 | 21561560 | 1584 | 1672 | 435 | 464 |
| 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 |
| ENST00000379510 | 5432 | 1034 | 21516485 | 21516631 | 1091 | 1236 | 270 | 319 |
| ENST00000379510 | 5432 | 1034 | 21561471 | 21561560 | 1584 | 1672 | 435 | 464 |
| 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 |
| ENST00000379510 | 5432 | 1034 | 21516485 | 21516631 | 1091 | 1236 | 270 | 319 |
| ENST00000379510 | 5432 | 1034 | 21561471 | 21561560 | 1584 | 1672 | 435 | 464 |
| 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 |
| Q8WXI2 | 227 | 247 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 227 | 247 | 215 | 297 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8WXI2 | 270 | 319 | 271 | 319 | Alternative sequence | ID=VSP_043168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WXI2 | 270 | 319 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 270 | 319 | 215 | 297 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8WXI2 | 435 | 464 | 435 | 464 | Alternative sequence | ID=VSP_043169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8WXI2 | 435 | 464 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 435 | 464 | 332 | 515 | Domain | Note=DUF1170 |
| 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 |
| Q8WXI2 | 270 | 319 | 271 | 319 | Alternative sequence | ID=VSP_043168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WXI2 | 270 | 319 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 270 | 319 | 215 | 297 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8WXI2 | 435 | 464 | 435 | 464 | Alternative sequence | ID=VSP_043169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8WXI2 | 435 | 464 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 435 | 464 | 332 | 515 | Domain | Note=DUF1170 |
| 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 |
| Q8WXI2 | 270 | 319 | 271 | 319 | Alternative sequence | ID=VSP_043168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WXI2 | 270 | 319 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 270 | 319 | 215 | 297 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q8WXI2 | 435 | 464 | 435 | 464 | Alternative sequence | ID=VSP_043169;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8WXI2 | 435 | 464 | 1 | 1034 | Chain | ID=PRO_0000089970;Note=Connector enhancer of kinase suppressor of ras 2 |
| Q8WXI2 | 435 | 464 | 332 | 515 | Domain | Note=DUF1170 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNKSR2 |
| 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 |
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SNVs in the skipped exons for CNKSR2 |
| - 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 CNKSR2 |
| 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 CNKSR2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CNKSR2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_161291 | 4.797974e-01 | 5.967241e-10 |
| CB | TRA2A | exon_skip_294008 | -4.539146e-01 | 3.371497e-09 |
| CB | NUP42 | exon_skip_294008 | 4.265286e-01 | 3.472886e-08 |
| CB | RBM4 | exon_skip_294008 | -5.491111e-01 | 1.659187e-13 |
| CB | TARDBP | exon_skip_37467 | -4.382646e-01 | 1.822334e-08 |
| CB | TRA2A | exon_skip_37467 | -5.450483e-01 | 4.636806e-13 |
| CB | NUP42 | exon_skip_37467 | 5.306267e-01 | 2.419098e-12 |
| IFG | A1CF | exon_skip_294008 | -4.215212e-01 | 2.547937e-02 |
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RelatedDrugs for CNKSR2 |
| 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 CNKSR2 |
| 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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