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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for WDR33 |
Gene summary |
Gene information | Gene symbol | WDR33 | Gene ID | 55339 |
Gene name | WD repeat domain 33 | |
Synonyms | NET14|WDC146 | |
Cytomap | 2q14.3 | |
Type of gene | protein-coding | |
Description | pre-mRNA 3' end processing protein WDR33WD repeat-containing protein 33WD repeat-containing protein WDC146 | |
Modification date | 20180523 | |
UniProtAcc | Q9C0J8 | |
Context | PubMed: WDR33 [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 |
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Exon skipping events across known transcript of Ensembl for WDR33 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 WDR33 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for WDR33 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_343311 | 2 | 128466250:128466466:128467063:128467156:128467266:128467430 | 128467063:128467156 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343314 | 2 | 128467266:128467430:128471156:128471595:128474728:128474837 | 128471156:128471595 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343320 | 2 | 128471156:128471595:128474728:128474837:128476838:128477927 | 128474728:128474837 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343321 | 2 | 128480826:128480921:128481906:128482017:128482460:128482539 | 128481906:128482017 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343323 | 2 | 128484225:128484351:128520635:128520733:128522401:128522553 | 128520635:128520733 | ENSG00000136709.7 | ENST00000436787.1,ENST00000322313.4 |
exon_skip_343329 | 2 | 128526506:128526575:128528351:128528578:128568585:128568721 | 128528351:128528578 | ENSG00000136709.7 | ENST00000409658.3,ENST00000393006.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR33 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_343311 | 2 | 128466250:128466466:128467063:128467156:128467266:128467430 | 128467063:128467156 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343314 | 2 | 128467266:128467430:128471156:128471595:128474728:128474837 | 128471156:128471595 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343320 | 2 | 128471156:128471595:128474728:128474837:128476838:128477927 | 128474728:128474837 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343321 | 2 | 128480826:128480921:128481906:128482017:128482460:128482539 | 128481906:128482017 | ENSG00000136709.7 | ENST00000322313.4 |
exon_skip_343323 | 2 | 128484225:128484351:128520635:128520733:128522401:128522553 | 128520635:128520733 | ENSG00000136709.7 | ENST00000322313.4,ENST00000436787.1 |
exon_skip_343329 | 2 | 128526506:128526575:128528351:128528578:128568585:128568721 | 128528351:128528578 | ENSG00000136709.7 | ENST00000393006.1,ENST00000409658.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for WDR33 |
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 |
ENST00000322313 | 128471156 | 128471595 | Frame-shift |
ENST00000322313 | 128474728 | 128474837 | Frame-shift |
ENST00000322313 | 128520635 | 128520733 | Frame-shift |
ENST00000322313 | 128467063 | 128467156 | In-frame |
ENST00000322313 | 128481906 | 128482017 | 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 |
ENST00000322313 | 128471156 | 128471595 | Frame-shift |
ENST00000322313 | 128474728 | 128474837 | Frame-shift |
ENST00000322313 | 128520635 | 128520733 | Frame-shift |
ENST00000322313 | 128467063 | 128467156 | In-frame |
ENST00000322313 | 128481906 | 128482017 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDR33 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000322313 | 9488 | 1336 | 128481906 | 128482017 | 1245 | 1355 | 362 | 398 |
ENST00000322313 | 9488 | 1336 | 128467063 | 128467156 | 3632 | 3724 | 1157 | 1188 |
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 |
ENST00000322313 | 9488 | 1336 | 128481906 | 128482017 | 1245 | 1355 | 362 | 398 |
ENST00000322313 | 9488 | 1336 | 128467063 | 128467156 | 3632 | 3724 | 1157 | 1188 |
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 |
Q9C0J8 | 362 | 398 | 327 | 1336 | Alternative sequence | ID=VSP_041334;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:15489334 |
Q9C0J8 | 362 | 398 | 368 | 370 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9N |
Q9C0J8 | 362 | 398 | 378 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9N |
Q9C0J8 | 362 | 398 | 387 | 397 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9N |
Q9C0J8 | 362 | 398 | 2 | 1336 | Chain | ID=PRO_0000051382;Note=pre-mRNA 3' end processing protein WDR33 |
Q9C0J8 | 362 | 398 | 329 | 369 | Repeat | Note=WD 6 |
Q9C0J8 | 362 | 398 | 373 | 412 | Repeat | Note=WD 7 |
Q9C0J8 | 1157 | 1188 | 327 | 1336 | Alternative sequence | ID=VSP_041334;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:15489334 |
Q9C0J8 | 1157 | 1188 | 2 | 1336 | Chain | ID=PRO_0000051382;Note=pre-mRNA 3' end processing protein WDR33 |
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 |
Q9C0J8 | 362 | 398 | 327 | 1336 | Alternative sequence | ID=VSP_041334;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:15489334 |
Q9C0J8 | 362 | 398 | 368 | 370 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9N |
Q9C0J8 | 362 | 398 | 378 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9N |
Q9C0J8 | 362 | 398 | 387 | 397 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9N |
Q9C0J8 | 362 | 398 | 2 | 1336 | Chain | ID=PRO_0000051382;Note=pre-mRNA 3' end processing protein WDR33 |
Q9C0J8 | 362 | 398 | 329 | 369 | Repeat | Note=WD 6 |
Q9C0J8 | 362 | 398 | 373 | 412 | Repeat | Note=WD 7 |
Q9C0J8 | 1157 | 1188 | 327 | 1336 | Alternative sequence | ID=VSP_041334;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:15489334 |
Q9C0J8 | 1157 | 1188 | 2 | 1336 | Chain | ID=PRO_0000051382;Note=pre-mRNA 3' end processing protein WDR33 |
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SNVs in the skipped exons for WDR33 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
WDR33_LUSC_exon_skip_343314_psi_boxplot.png |
WDR33_PAAD_exon_skip_343314_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 |
BLCA | TCGA-GC-A3RB-01 | exon_skip_343314 | 128471157 | 128471595 | 128471200 | 128471200 | Frame_Shift_Del | G | - | p.R1089fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_343321 | 128481907 | 128482017 | 128481975 | 128481975 | Frame_Shift_Del | C | - | p.G376fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_343323 | 128520636 | 128520733 | 128520664 | 128520664 | Frame_Shift_Del | A | - | p.L232fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_343329 | 128528352 | 128528578 | 128528356 | 128528356 | Frame_Shift_Del | A | - | p.L67fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_343329 | 128528352 | 128528578 | 128528390 | 128528390 | Frame_Shift_Del | T | - | p.T56fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_343329 | 128528352 | 128528578 | 128528390 | 128528390 | Frame_Shift_Del | T | - | p.T56fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_343329 | 128528352 | 128528578 | 128528454 | 128528454 | Frame_Shift_Del | T | - | p.Q36fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_343329 | 128528352 | 128528578 | 128528521 | 128528521 | Frame_Shift_Del | A | - | p.F12fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_343329 | 128528352 | 128528578 | 128528521 | 128528521 | Frame_Shift_Del | A | - | p.F12fs |
KIRC | TCGA-B0-5119-01 | exon_skip_343321 | 128481907 | 128482017 | 128481936 | 128481937 | Frame_Shift_Ins | - | AT | p.I389fs |
KIRC | TCGA-B0-5119-01 | exon_skip_343321 | 128481907 | 128482017 | 128481936 | 128481937 | Frame_Shift_Ins | - | AT | p.T389fs |
LUSC | TCGA-66-2763-01 | exon_skip_343314 | 128471157 | 128471595 | 128471191 | 128471191 | Nonsense_Mutation | C | A | p.E1092* |
PAAD | TCGA-IB-7651-01 | exon_skip_343314 | 128471157 | 128471595 | 128471362 | 128471362 | Nonsense_Mutation | G | A | p.R1035* |
PAAD | TCGA-IB-7651-01 | exon_skip_343314 | 128471157 | 128471595 | 128471362 | 128471362 | Nonsense_Mutation | G | A | p.R1035X |
STAD | TCGA-HU-8602-01 | exon_skip_343323 | 128520636 | 128520733 | 128520648 | 128520648 | Nonsense_Mutation | T | A | p.R238* |
STAD | TCGA-HU-8602-01 | exon_skip_343323 | 128520636 | 128520733 | 128520648 | 128520648 | Nonsense_Mutation | T | A | p.R238X |
STAD | TCGA-D7-A6EZ-01 | exon_skip_343311 | 128467064 | 128467156 | 128467158 | 128467158 | Splice_Site | T | A | . |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
C33A_CERVIX | 128471157 | 128471595 | 128471197 | 128471197 | Frame_Shift_Del | C | - | p.D1090fs |
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128471157 | 128471595 | 128471239 | 128471239 | Frame_Shift_Del | C | - | p.A1076fs |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128471157 | 128471595 | 128471298 | 128471298 | Frame_Shift_Del | G | - | p.P1056fs |
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128474729 | 128474837 | 128474736 | 128474736 | Frame_Shift_Del | G | - | p.P954fs |
LC2AD_LUNG | 128467064 | 128467156 | 128467070 | 128467070 | Missense_Mutation | C | G | p.E1187Q |
LOVO_LARGE_INTESTINE | 128467064 | 128467156 | 128467100 | 128467100 | Missense_Mutation | G | A | p.R1177W |
LS411N_LARGE_INTESTINE | 128467064 | 128467156 | 128467100 | 128467100 | Missense_Mutation | G | A | p.R1177W |
D502MG_CENTRAL_NERVOUS_SYSTEM | 128467064 | 128467156 | 128467103 | 128467103 | Missense_Mutation | C | T | p.G1176R |
NCIH146_LUNG | 128471157 | 128471595 | 128471203 | 128471203 | Missense_Mutation | G | A | p.P1088S |
A253_SALIVARY_GLAND | 128471157 | 128471595 | 128471209 | 128471209 | Missense_Mutation | G | A | p.R1086C |
SNU1040_LARGE_INTESTINE | 128471157 | 128471595 | 128471223 | 128471223 | Missense_Mutation | C | A | p.R1081M |
SW48_LARGE_INTESTINE | 128471157 | 128471595 | 128471280 | 128471280 | Missense_Mutation | C | T | p.S1062N |
RL952_ENDOMETRIUM | 128471157 | 128471595 | 128471325 | 128471325 | Missense_Mutation | C | T | p.R1047Q |
KLE_ENDOMETRIUM | 128471157 | 128471595 | 128471524 | 128471524 | Missense_Mutation | G | C | p.P981A |
ZR751_BREAST | 128471157 | 128471595 | 128471545 | 128471545 | Missense_Mutation | G | A | p.R974W |
YMB1E_BREAST | 128471157 | 128471595 | 128471545 | 128471545 | Missense_Mutation | G | A | p.R974W |
UMUC14_URINARY_TRACT | 128471157 | 128471595 | 128471553 | 128471553 | Missense_Mutation | G | A | p.S971L |
MEWO_SKIN | 128471157 | 128471595 | 128471572 | 128471572 | Missense_Mutation | G | A | p.H965Y |
SNU175_LARGE_INTESTINE | 128471157 | 128471595 | 128471586 | 128471586 | Missense_Mutation | C | T | p.R960H |
GP2D_LARGE_INTESTINE | 128471157 | 128471595 | 128471586 | 128471586 | Missense_Mutation | C | T | p.R960H |
GP5D_LARGE_INTESTINE | 128471157 | 128471595 | 128471586 | 128471586 | Missense_Mutation | C | T | p.R960H |
LS180_LARGE_INTESTINE | 128481907 | 128482017 | 128481971 | 128481971 | Missense_Mutation | T | C | p.I378V |
HEC50B_ENDOMETRIUM | 128481907 | 128482017 | 128482007 | 128482007 | Missense_Mutation | C | G | p.E366Q |
NCIH2087_LUNG | 128520636 | 128520733 | 128520647 | 128520647 | Missense_Mutation | C | T | p.R238K |
SNU1040_LARGE_INTESTINE | 128520636 | 128520733 | 128520663 | 128520663 | Missense_Mutation | G | A | p.R233C |
OC314_OVARY | 128528352 | 128528578 | 128528354 | 128528354 | Missense_Mutation | C | T | p.E68K |
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128528352 | 128528578 | 128528366 | 128528366 | Missense_Mutation | T | G | p.I64L |
SNUC2B_LARGE_INTESTINE | 128528352 | 128528578 | 128528380 | 128528380 | Missense_Mutation | T | C | p.Y59C |
UACC893_BREAST | 128528352 | 128528578 | 128528404 | 128528404 | Missense_Mutation | G | T | p.A51D |
NCIH650_LUNG | 128528352 | 128528578 | 128528528 | 128528528 | Missense_Mutation | G | A | p.R10C |
BE2M17_AUTONOMIC_GANGLIA | 128528352 | 128528578 | 128528533 | 128528533 | Missense_Mutation | G | T | p.P8H |
LB996RCC_KIDNEY | 128471157 | 128471595 | 128471176 | 128471176 | Nonsense_Mutation | G | A | p.R1097* |
SNU1040_LARGE_INTESTINE | 128471157 | 128471595 | 128471326 | 128471326 | Nonsense_Mutation | G | A | p.R1047* |
MM127_SKIN | 128471157 | 128471595 | 128471594 | 128471594 | Splice_Site | A | T | p.G957G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR33 |
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 WDR33 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR33 |
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RelatedDrugs for WDR33 |
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 WDR33 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |