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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 CUL3 |
 Gene summary |
| Gene information | Gene symbol | CUL3 | Gene ID | 8452 |
| Gene name | cullin 3 | |
| Synonyms | CUL-3|PHA2E | |
| Cytomap | 2q36.2 | |
| Type of gene | protein-coding | |
| Description | cullin-3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q13618 | |
| Context | PubMed: CUL3 [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 |
| CUL3 | GO:0000209 | protein polyubiquitination | 19261606 |
| CUL3 | GO:0006511 | ubiquitin-dependent protein catabolic process | 25401743|27561354 |
| CUL3 | GO:0006513 | protein monoubiquitination | 22358839 |
| CUL3 | GO:0006888 | ER to Golgi vesicle-mediated transport | 22358839 |
| CUL3 | GO:0016567 | protein ubiquitination | 17543862|19782033|19995937|20389280 |
| CUL3 | GO:0031145 | anaphase-promoting complex-dependent catabolic process | 10500095 |
| CUL3 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 19261606|19782033|20389280 |
| CUL3 | GO:0071630 | nuclear protein quality control by the ubiquitin-proteasome system | 27561354 |
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Exon skipping events across known transcript of Ensembl for CUL3 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 CUL3 |
| 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 CUL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347216 | 2 | 225338749:225339093:225342916:225343062:225360548:225360683 | 225342916:225343062 | ENSG00000036257.8 | ENST00000454323.1 |
| exon_skip_347218 | 2 | 225343019:225343062:225346608:225346795:225360548:225360623 | 225346608:225346795 | ENSG00000036257.8 | ENST00000409777.1,ENST00000344951.4,ENST00000264414.4,ENST00000409096.1 |
| exon_skip_347221 | 2 | 225346608:225346795:225360548:225360683:225362469:225362536 | 225360548:225360683 | ENSG00000036257.8 | ENST00000409777.1,ENST00000344951.4,ENST00000264414.4,ENST00000409096.1 |
| exon_skip_347225 | 2 | 225362469:225362566:225365079:225365204:225367681:225367789 | 225365079:225365204 | ENSG00000036257.8 | ENST00000409777.1,ENST00000344951.4,ENST00000264414.4,ENST00000409096.1 |
| exon_skip_347228 | 2 | 225367708:225367789:225368368:225368539:225370672:225370849 | 225368368:225368539 | ENSG00000036257.8 | ENST00000409777.1,ENST00000344951.4,ENST00000264414.4,ENST00000409096.1 |
| exon_skip_347230 | 2 | 225371574:225371720:225376070:225376299:225378240:225378355 | 225376070:225376299 | ENSG00000036257.8 | ENST00000409777.1,ENST00000344951.4,ENST00000264414.4,ENST00000409096.1 |
| exon_skip_347231 | 2 | 225379352:225379489:225400244:225400358:225421011:225421106 | 225400244:225400358 | ENSG00000036257.8 | ENST00000432260.2 |
| exon_skip_347232 | 2 | 225379352:225379489:225400244:225400358:225422375:225422537 | 225400244:225400358 | ENSG00000036257.8 | ENST00000409777.1,ENST00000264414.4,ENST00000409096.1,ENST00000436172.1 |
| exon_skip_347233 | 2 | 225379352:225379489:225400244:225400358:225449660:225450065 | 225400244:225400358 | ENSG00000036257.8 | ENST00000344951.4 |
| exon_skip_347237 | 2 | 225400323:225400358:225421011:225421106:225422375:225422537 | 225421011:225421106 | ENSG00000036257.8 | ENST00000546102.1 |
| exon_skip_347238 | 2 | 225400323:225400358:225421011:225421137:225422375:225422537 | 225421011:225421137 | ENSG00000036257.8 | ENST00000432260.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CUL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347216 | 2 | 225338749:225339093:225342916:225343062:225360548:225360683 | 225342916:225343062 | ENSG00000036257.8 | ENST00000454323.1 |
| exon_skip_347218 | 2 | 225343019:225343062:225346608:225346795:225360548:225360623 | 225346608:225346795 | ENSG00000036257.8 | ENST00000264414.4,ENST00000344951.4,ENST00000409096.1,ENST00000409777.1 |
| exon_skip_347221 | 2 | 225346608:225346795:225360548:225360683:225362469:225362536 | 225360548:225360683 | ENSG00000036257.8 | ENST00000264414.4,ENST00000344951.4,ENST00000409096.1,ENST00000409777.1 |
| exon_skip_347225 | 2 | 225362469:225362566:225365079:225365204:225367681:225367789 | 225365079:225365204 | ENSG00000036257.8 | ENST00000264414.4,ENST00000344951.4,ENST00000409096.1,ENST00000409777.1 |
| exon_skip_347228 | 2 | 225367708:225367789:225368368:225368539:225370672:225370849 | 225368368:225368539 | ENSG00000036257.8 | ENST00000264414.4,ENST00000344951.4,ENST00000409096.1,ENST00000409777.1 |
| exon_skip_347230 | 2 | 225371574:225371720:225376070:225376299:225378240:225378355 | 225376070:225376299 | ENSG00000036257.8 | ENST00000264414.4,ENST00000344951.4,ENST00000409096.1,ENST00000409777.1 |
| exon_skip_347231 | 2 | 225379352:225379489:225400244:225400358:225421011:225421106 | 225400244:225400358 | ENSG00000036257.8 | ENST00000432260.2 |
| exon_skip_347232 | 2 | 225379352:225379489:225400244:225400358:225422375:225422537 | 225400244:225400358 | ENSG00000036257.8 | ENST00000264414.4,ENST00000409096.1,ENST00000409777.1,ENST00000436172.1 |
| exon_skip_347233 | 2 | 225379352:225379489:225400244:225400358:225449660:225450065 | 225400244:225400358 | ENSG00000036257.8 | ENST00000344951.4 |
| exon_skip_347237 | 2 | 225400323:225400358:225421011:225421106:225422375:225422537 | 225421011:225421106 | ENSG00000036257.8 | ENST00000546102.1 |
| exon_skip_347238 | 2 | 225400323:225400358:225421011:225421137:225422375:225422537 | 225421011:225421137 | ENSG00000036257.8 | ENST00000432260.2 |
| 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 CUL3 |
| 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 |
| ENST00000264414 | 225346608 | 225346795 | Frame-shift |
| ENST00000264414 | 225365079 | 225365204 | Frame-shift |
| ENST00000264414 | 225376070 | 225376299 | Frame-shift |
| ENST00000264414 | 225360548 | 225360683 | In-frame |
| ENST00000264414 | 225368368 | 225368539 | In-frame |
| ENST00000264414 | 225400244 | 225400358 | 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 |
| ENST00000264414 | 225346608 | 225346795 | Frame-shift |
| ENST00000264414 | 225365079 | 225365204 | Frame-shift |
| ENST00000264414 | 225376070 | 225376299 | Frame-shift |
| ENST00000264414 | 225360548 | 225360683 | In-frame |
| ENST00000264414 | 225368368 | 225368539 | In-frame |
| ENST00000264414 | 225400244 | 225400358 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CUL3 |
| 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 |
| ENST00000264414 | 6758 | 768 | 225400244 | 225400358 | 604 | 717 | 88 | 126 |
| ENST00000264414 | 6758 | 768 | 225368368 | 225368539 | 1546 | 1716 | 402 | 459 |
| ENST00000264414 | 6758 | 768 | 225360548 | 225360683 | 2047 | 2181 | 569 | 614 |
| 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 |
| ENST00000264414 | 6758 | 768 | 225400244 | 225400358 | 604 | 717 | 88 | 126 |
| ENST00000264414 | 6758 | 768 | 225368368 | 225368539 | 1546 | 1716 | 402 | 459 |
| ENST00000264414 | 6758 | 768 | 225360548 | 225360683 | 2047 | 2181 | 569 | 614 |
| 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 |
| Q13618 | 88 | 126 | 23 | 88 | Alternative sequence | ID=VSP_008825;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13618 | 88 | 126 | 2 | 768 | Chain | ID=PRO_0000119793;Note=Cullin-3 |
| Q13618 | 88 | 126 | 89 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 88 | 126 | 101 | 122 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 88 | 126 | 124 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 88 | 126 | 95 | 98 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 402 | 459 | 2 | 768 | Chain | ID=PRO_0000119793;Note=Cullin-3 |
| Q13618 | 402 | 459 | 413 | 413 | Natural variant | ID=VAR_067532;Note=In PHA2E. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22266938;Dbxref=dbSNP:rs199469656,PMID:22266938 |
| Q13618 | 402 | 459 | 459 | 459 | Natural variant | ID=VAR_067533;Note=In PHA2E. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22266938;Dbxref=dbSNP:rs199469658,PMID:22266938 |
| Q13618 | 569 | 614 | 2 | 768 | Chain | ID=PRO_0000119793;Note=Cullin-3 |
| Q13618 | 569 | 614 | 585 | 585 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q13618 | 569 | 614 | 609 | 609 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q13618 | 88 | 126 | 23 | 88 | Alternative sequence | ID=VSP_008825;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13618 | 88 | 126 | 2 | 768 | Chain | ID=PRO_0000119793;Note=Cullin-3 |
| Q13618 | 88 | 126 | 89 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 88 | 126 | 101 | 122 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 88 | 126 | 124 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 88 | 126 | 95 | 98 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4EOZ |
| Q13618 | 402 | 459 | 2 | 768 | Chain | ID=PRO_0000119793;Note=Cullin-3 |
| Q13618 | 402 | 459 | 413 | 413 | Natural variant | ID=VAR_067532;Note=In PHA2E. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22266938;Dbxref=dbSNP:rs199469656,PMID:22266938 |
| Q13618 | 402 | 459 | 459 | 459 | Natural variant | ID=VAR_067533;Note=In PHA2E. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22266938;Dbxref=dbSNP:rs199469658,PMID:22266938 |
| Q13618 | 569 | 614 | 2 | 768 | Chain | ID=PRO_0000119793;Note=Cullin-3 |
| Q13618 | 569 | 614 | 585 | 585 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q13618 | 569 | 614 | 609 | 609 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CUL3 |
| - 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. |
CUL3_LUAD_exon_skip_347230_psi_boxplot.png |
CUL3_LUSC_exon_skip_347230_psi_boxplot.png |
| - 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 |
| KIRP | TCGA-B9-A8YI-01 | exon_skip_347221 | 225360549 | 225360683 | 225360561 | 225360561 | Frame_Shift_Del | T | - | p.Y617fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_347221 | 225360549 | 225360683 | 225360601 | 225360601 | Frame_Shift_Del | A | - | p.F597fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_347225 | 225365080 | 225365204 | 225365116 | 225365116 | Frame_Shift_Del | G | - | p.P526fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_347228 | 225368369 | 225368539 | 225368388 | 225368388 | Frame_Shift_Del | T | - | p.N453fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_347228 | 225368369 | 225368539 | 225368388 | 225368388 | Frame_Shift_Del | T | - | p.N459fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_347228 | 225368369 | 225368539 | 225368413 | 225368413 | Frame_Shift_Del | T | - | p.S445fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_347228 | 225368369 | 225368539 | 225368413 | 225368413 | Frame_Shift_Del | T | - | p.S451fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_347228 | 225368369 | 225368539 | 225368504 | 225368504 | Frame_Shift_Del | T | - | p.K414fs |
| KIRC | TCGA-BP-4965-01 | exon_skip_347221 | 225360549 | 225360683 | 225360644 | 225360645 | Frame_Shift_Ins | - | TA | p.W583fs |
| STAD | TCGA-CG-5723-01 | exon_skip_347228 | 225368369 | 225368539 | 225368388 | 225368389 | Frame_Shift_Ins | - | T | p.N459fs |
| HNSC | TCGA-QK-A8ZA-01 | exon_skip_347228 | 225368369 | 225368539 | 225368438 | 225368439 | Frame_Shift_Ins | - | A | p.C436fs |
| COAD | TCGA-DM-A28F-01 | exon_skip_347216 | 225342917 | 225343062 | 225343024 | 225343024 | Nonsense_Mutation | C | A | p.E696X |
| HNSC | TCGA-CN-6019-01 | exon_skip_347225 | 225365080 | 225365204 | 225365129 | 225365129 | Nonsense_Mutation | T | A | p.K521* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_347228 | 225368369 | 225368539 | 225368527 | 225368527 | Nonsense_Mutation | C | A | p.E407* |
| LUSC | TCGA-18-5595-01 | exon_skip_347230 | 225376071 | 225376299 | 225376190 | 225376190 | Nonsense_Mutation | G | C | p.S261* |
| LUSC | TCGA-18-4721-01 | exon_skip_347230 | 225376071 | 225376299 | 225376242 | 225376242 | Nonsense_Mutation | C | A | p.E244* |
| HNSC | TCGA-CV-5435-01 | exon_skip_347232 exon_skip_347233 exon_skip_347231 | 225400245 | 225400358 | 225400286 | 225400286 | Nonsense_Mutation | G | A | p.Q113* |
| LUSC | TCGA-39-5021-01 | exon_skip_347218 | 225346609 | 225346795 | 225346608 | 225346608 | Splice_Site | C | T | p.V683_splice |
| UCEC | TCGA-D1-A17B-01 | exon_skip_347221 | 225360549 | 225360683 | 225360684 | 225360684 | Splice_Site | C | A | p.E576_splice |
| HNSC | TCGA-CV-5432-01 | exon_skip_347225 | 225365080 | 225365204 | 225365205 | 225365205 | Splice_Site | C | A | p.V496_splice |
| LUAD | TCGA-05-4249-01 | exon_skip_347230 | 225376071 | 225376299 | 225376300 | 225376300 | Splice_Site | C | T | p.M219_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-05-4249-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_347230 | |
| Skipped exon start: 225376071 | |
| Skipped exon end: 225376299 | |
| Mutation start: 225376300 | |
| Mutation end: 225376300 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.M219_splice | |
exon_skip_26084_LUAD_TCGA-05-4249-01.png | |
exon_skip_347230_LUAD_TCGA-05-4249-01.png | |
 | Sample: TCGA-18-5595-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_347230 | |
| Skipped exon start: 225376071 | |
| Skipped exon end: 225376299 | |
| Mutation start: 225376190 | |
| Mutation end: 225376190 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S261* | |
exon_skip_132208_LUSC_TCGA-18-5595-01.png | |
exon_skip_296846_LUSC_TCGA-18-5595-01.png | |
exon_skip_347230_LUSC_TCGA-18-5595-01.png | |
| - 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 | 225368369 | 225368539 | 225368387 | 225368388 | Frame_Shift_Ins | - | T | p.N453fs |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225342917 | 225343062 | 225342999 | 225342999 | Missense_Mutation | T | C | p.D698G |
| CW2_LARGE_INTESTINE | 225346609 | 225346795 | 225346713 | 225346713 | Missense_Mutation | C | A | p.R642L |
| SNU81_LARGE_INTESTINE | 225346609 | 225346795 | 225346714 | 225346714 | Missense_Mutation | G | A | p.R642W |
| NCIH2081_LUNG | 225368369 | 225368539 | 225368390 | 225368390 | Missense_Mutation | T | G | p.K452N |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 225368369 | 225368539 | 225368486 | 225368486 | Missense_Mutation | C | G | p.R420S |
| HEC108_ENDOMETRIUM | 225368369 | 225368539 | 225368499 | 225368499 | Missense_Mutation | A | G | p.M416T |
| NCIH460_LUNG | 225368369 | 225368539 | 225368517 | 225368517 | Missense_Mutation | G | A | p.T410I |
| RH18_SOFT_TISSUE | 225376071 | 225376299 | 225376090 | 225376090 | Missense_Mutation | C | G | p.L288F |
| JHUEM1_ENDOMETRIUM | 225376071 | 225376299 | 225376263 | 225376263 | Missense_Mutation | A | G | p.S231P |
| NB14_AUTONOMIC_GANGLIA | 225376071 | 225376299 | 225376286 | 225376286 | Missense_Mutation | T | G | p.K223T |
| BFTC905_URINARY_TRACT | 225400245 | 225400358 | 225400247 | 225400247 | Missense_Mutation | T | A | p.M126L |
| NCIH1793_LUNG | 225368369 | 225368539 | 225368371 | 225368371 | Nonsense_Mutation | T | A | p.K459* |
| EN_ENDOMETRIUM | 225368369 | 225368539 | 225368453 | 225368453 | Nonsense_Mutation | A | T | p.Y431* |
| IGROV1_OVARY | 225346609 | 225346795 | 225346609 | 225346609 | Splice_Site | C | A | p.V677F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CUL3 |
| 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 |
| exon_skip_347218 | 2 | 225343019:225343062:225346608:225346795:225360548:225360623 | 225346608:225346795 | ENST00000409777.1,ENST00000344951.4,ENST00000264414.4,ENST00000409096.1 | KIRC | rs2070127 | chr2:225346646 | T/C | 7.58e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUL3 |
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RelatedDrugs for CUL3 |
| 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 CUL3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CUL3 | C0025202 | melanoma | 1 | CTD_human |
| CUL3 | C3469606 | PSEUDOHYPOALDOSTERONISM, TYPE IIE | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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