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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 WDPCP |
 Gene summary |
| Gene information | Gene symbol | WDPCP | Gene ID | 51057 |
| Gene name | WD repeat containing planar cell polarity effector | |
| Synonyms | BBS15|C2orf86|CHDTHP|CPLANE5|FRITZ|FRTZ | |
| Cytomap | 2p15 | |
| Type of gene | protein-coding | |
| Description | WD repeat-containing and planar cell polarity effector protein fritz homologBardet-Biedl syndrome 15 proteinWD repeat-containing protein C2orf86ciliogenesis and planar polarity effector 5 | |
| Modification date | 20180523 | |
| UniProtAcc | O95876 | |
| Context | PubMed: WDPCP [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 WDPCP 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 WDPCP |
| 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 WDPCP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339581 | 2 | 63380048:63380080:63380629:63380709:63401804:63401967 | 63380629:63380709 | ENSG00000143951.11 | ENST00000409354.2,ENST00000272321.7,ENST00000398544.3,ENST00000409120.1,ENST00000409199.1 |
| exon_skip_339583 | 2 | 63401804:63401967:63486441:63486544:63540382:63540446 | 63486441:63486544 | ENSG00000143951.11 | ENST00000272321.7,ENST00000398544.3,ENST00000409120.1,ENST00000409199.1 |
| exon_skip_339588 | 2 | 63540382:63540446:63605520:63605644:63609040:63609209 | 63605520:63605644 | ENSG00000143951.11 | ENST00000409562.3,ENST00000409354.2,ENST00000272321.7,ENST00000398544.3,ENST00000409120.1,ENST00000409199.1 |
| exon_skip_339590 | 2 | 63605520:63605644:63609040:63609229:63631182:63631792 | 63609040:63609229 | ENSG00000143951.11 | ENST00000409562.3,ENST00000409354.2,ENST00000272321.7,ENST00000398544.3,ENST00000409120.1,ENST00000409835.1,ENST00000409199.1,ENST00000417238.1 |
| exon_skip_339592 | 2 | 63609040:63609229:63631182:63631792:63660878:63661064 | 63631182:63631792 | ENSG00000143951.11 | ENST00000409562.3,ENST00000272321.7,ENST00000398544.3,ENST00000409120.1,ENST00000409835.1,ENST00000409199.1,ENST00000417238.1 |
| exon_skip_339595 | 2 | 63631182:63631792:63660878:63661070:63664554:63664688 | 63660878:63661070 | ENSG00000143951.11 | ENST00000409562.3,ENST00000272321.7,ENST00000493315.1,ENST00000398544.3,ENST00000409120.1,ENST00000409835.1,ENST00000409199.1,ENST00000417238.1 |
| exon_skip_339598 | 2 | 63664590:63664688:63666890:63666989:63711737:63711797 | 63666890:63666989 | ENSG00000143951.11 | ENST00000418148.1 |
| exon_skip_339599 | 2 | 63664590:63664688:63666890:63667005:63711737:63711797 | 63666890:63667005 | ENSG00000143951.11 | ENST00000409562.3,ENST00000272321.7,ENST00000493315.1,ENST00000409835.1,ENST00000417238.1 |
| exon_skip_339600 | 2 | 63711737:63711797:63712050:63712121:63713675:63713720 | 63712050:63712121 | ENSG00000143951.11 | ENST00000409562.3,ENST00000272321.7,ENST00000418148.1,ENST00000409835.1,ENST00000417238.1 |
| exon_skip_339601 | 2 | 63711737:63711797:63712050:63712121:63714580:63714628 | 63712050:63712121 | ENSG00000143951.11 | ENST00000490935.1 |
| exon_skip_339603 | 2 | 63712075:63712121:63713675:63713720:63714580:63714628 | 63713675:63713720 | ENSG00000143951.11 | ENST00000409562.3,ENST00000272321.7,ENST00000418148.1,ENST00000409835.1,ENST00000417238.1 |
| exon_skip_339607 | 2 | 63719989:63720074:63798508:63798760:63815330:63815400 | 63798508:63798760 | ENSG00000143951.11 | ENST00000417238.1 |
| exon_skip_339614 | 2 | 63877792:63877972:63938630:63938725:64040755:64040841 | 63938630:63938725 | ENSG00000143951.11 | ENST00000490935.1 |
| exon_skip_339619 | 2 | 63938630:63938725:64040755:64040841:64054755:64054977 | 64040755:64040841 | ENSG00000143951.11 | ENST00000490935.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDPCP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339581 | 2 | 63380048:63380080:63380629:63380709:63401804:63401967 | 63380629:63380709 | ENSG00000143951.11 | ENST00000409354.2,ENST00000272321.7,ENST00000409199.1,ENST00000409120.1,ENST00000398544.3 |
| exon_skip_339583 | 2 | 63401804:63401967:63486441:63486544:63540382:63540446 | 63486441:63486544 | ENSG00000143951.11 | ENST00000272321.7,ENST00000409199.1,ENST00000409120.1,ENST00000398544.3 |
| exon_skip_339588 | 2 | 63540382:63540446:63605520:63605644:63609040:63609209 | 63605520:63605644 | ENSG00000143951.11 | ENST00000409354.2,ENST00000272321.7,ENST00000409199.1,ENST00000409120.1,ENST00000398544.3,ENST00000409562.3 |
| exon_skip_339590 | 2 | 63605520:63605644:63609040:63609229:63631182:63631792 | 63609040:63609229 | ENSG00000143951.11 | ENST00000409354.2,ENST00000272321.7,ENST00000409199.1,ENST00000409120.1,ENST00000398544.3,ENST00000409562.3,ENST00000409835.1,ENST00000417238.1 |
| exon_skip_339592 | 2 | 63609040:63609229:63631182:63631792:63660878:63661064 | 63631182:63631792 | ENSG00000143951.11 | ENST00000272321.7,ENST00000409199.1,ENST00000409120.1,ENST00000398544.3,ENST00000409562.3,ENST00000409835.1,ENST00000417238.1 |
| exon_skip_339595 | 2 | 63631182:63631792:63660878:63661070:63664554:63664688 | 63660878:63661070 | ENSG00000143951.11 | ENST00000272321.7,ENST00000409199.1,ENST00000409120.1,ENST00000398544.3,ENST00000409562.3,ENST00000409835.1,ENST00000417238.1,ENST00000493315.1 |
| exon_skip_339598 | 2 | 63664590:63664688:63666890:63666989:63711737:63711797 | 63666890:63666989 | ENSG00000143951.11 | ENST00000418148.1 |
| exon_skip_339599 | 2 | 63664590:63664688:63666890:63667005:63711737:63711797 | 63666890:63667005 | ENSG00000143951.11 | ENST00000272321.7,ENST00000409562.3,ENST00000409835.1,ENST00000417238.1,ENST00000493315.1 |
| exon_skip_339600 | 2 | 63711737:63711797:63712050:63712121:63713675:63713720 | 63712050:63712121 | ENSG00000143951.11 | ENST00000272321.7,ENST00000409562.3,ENST00000409835.1,ENST00000417238.1,ENST00000418148.1 |
| exon_skip_339601 | 2 | 63711737:63711797:63712050:63712121:63714580:63714628 | 63712050:63712121 | ENSG00000143951.11 | ENST00000490935.1 |
| exon_skip_339603 | 2 | 63712075:63712121:63713675:63713720:63714580:63714628 | 63713675:63713720 | ENSG00000143951.11 | ENST00000272321.7,ENST00000409562.3,ENST00000409835.1,ENST00000417238.1,ENST00000418148.1 |
| exon_skip_339607 | 2 | 63719989:63720074:63798508:63798760:63815330:63815400 | 63798508:63798760 | ENSG00000143951.11 | ENST00000417238.1 |
| exon_skip_339614 | 2 | 63877792:63877972:63938630:63938725:64040755:64040841 | 63938630:63938725 | ENSG00000143951.11 | ENST00000490935.1 |
| exon_skip_339619 | 2 | 63938630:63938725:64040755:64040841:64054755:64054977 | 64040755:64040841 | ENSG00000143951.11 | ENST00000490935.1 |
| 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 WDPCP |
| 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 |
| ENST00000272321 | 63380629 | 63380709 | Frame-shift |
| ENST00000272321 | 63486441 | 63486544 | Frame-shift |
| ENST00000272321 | 63605520 | 63605644 | Frame-shift |
| ENST00000272321 | 63631182 | 63631792 | Frame-shift |
| ENST00000272321 | 63666890 | 63667005 | Frame-shift |
| ENST00000272321 | 63712050 | 63712121 | Frame-shift |
| ENST00000272321 | 63609040 | 63609229 | In-frame |
| ENST00000272321 | 63660878 | 63661070 | In-frame |
| ENST00000272321 | 63713675 | 63713720 | 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 |
| ENST00000272321 | 63380629 | 63380709 | Frame-shift |
| ENST00000272321 | 63486441 | 63486544 | Frame-shift |
| ENST00000272321 | 63605520 | 63605644 | Frame-shift |
| ENST00000272321 | 63631182 | 63631792 | Frame-shift |
| ENST00000272321 | 63666890 | 63667005 | Frame-shift |
| ENST00000272321 | 63712050 | 63712121 | Frame-shift |
| ENST00000272321 | 63609040 | 63609229 | In-frame |
| ENST00000272321 | 63660878 | 63661070 | In-frame |
| ENST00000272321 | 63713675 | 63713720 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDPCP |
| 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 |
| ENST00000272321 | 3409 | 746 | 63713675 | 63713720 | 737 | 781 | 69 | 84 |
| ENST00000272321 | 3409 | 746 | 63660878 | 63661070 | 1162 | 1353 | 211 | 275 |
| ENST00000272321 | 3409 | 746 | 63609040 | 63609229 | 1964 | 2152 | 478 | 541 |
| 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 |
| ENST00000272321 | 3409 | 746 | 63713675 | 63713720 | 737 | 781 | 69 | 84 |
| ENST00000272321 | 3409 | 746 | 63660878 | 63661070 | 1162 | 1353 | 211 | 275 |
| ENST00000272321 | 3409 | 746 | 63609040 | 63609229 | 1964 | 2152 | 478 | 541 |
| 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 |
| O95876 | 69 | 84 | 1 | 166 | Alternative sequence | ID=VSP_032408;Note=In isoform 3. MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISD->MFSSLHS;Ontology_term=ECO:0000303,ECO:0000303;evidence |
| O95876 | 69 | 84 | 1 | 746 | Chain | ID=PRO_0000325802;Note=WD repeat-containing and planar cell polarity effector protein fritz homolog |
| O95876 | 211 | 275 | 1 | 746 | Chain | ID=PRO_0000325802;Note=WD repeat-containing and planar cell polarity effector protein fritz homolog |
| O95876 | 211 | 275 | 268 | 268 | Natural variant | ID=VAR_039919;Note=G->S;Dbxref=dbSNP:rs17617459 |
| O95876 | 478 | 541 | 1 | 746 | Chain | ID=PRO_0000325802;Note=WD repeat-containing and planar cell polarity effector protein fritz homolog |
| 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 |
| O95876 | 69 | 84 | 1 | 166 | Alternative sequence | ID=VSP_032408;Note=In isoform 3. MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISD->MFSSLHS;Ontology_term=ECO:0000303,ECO:0000303;evidence |
| O95876 | 69 | 84 | 1 | 746 | Chain | ID=PRO_0000325802;Note=WD repeat-containing and planar cell polarity effector protein fritz homolog |
| O95876 | 211 | 275 | 1 | 746 | Chain | ID=PRO_0000325802;Note=WD repeat-containing and planar cell polarity effector protein fritz homolog |
| O95876 | 211 | 275 | 268 | 268 | Natural variant | ID=VAR_039919;Note=G->S;Dbxref=dbSNP:rs17617459 |
| O95876 | 478 | 541 | 1 | 746 | Chain | ID=PRO_0000325802;Note=WD repeat-containing and planar cell polarity effector protein fritz homolog |
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SNVs in the skipped exons for WDPCP |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339581 | 63380630 | 63380709 | 63380656 | 63380656 | Frame_Shift_Del | A | - | p.L519fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339581 | 63380630 | 63380709 | 63380656 | 63380656 | Frame_Shift_Del | A | - | p.L519fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339590 | 63609041 | 63609229 | 63609185 | 63609185 | Frame_Shift_Del | G | - | p.Q302fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339598 | 63666891 | 63666989 | 63666946 | 63666946 | Frame_Shift_Del | T | - | p.K148fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339599 | 63666891 | 63667005 | 63666946 | 63666946 | Frame_Shift_Del | T | - | p.K148fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_339599 | 63666891 | 63667005 | 63667002 | 63667002 | Frame_Shift_Del | G | - | p.L130fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_339600 exon_skip_339601 | 63712051 | 63712121 | 63712094 | 63712094 | Frame_Shift_Del | T | - | p.N94fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_339603 | 63713676 | 63713720 | 63713696 | 63713696 | Frame_Shift_Del | T | - | p.K79fs |
| SKCM | TCGA-D3-A8GV-06 | exon_skip_339590 | 63609041 | 63609229 | 63609218 | 63609218 | Nonsense_Mutation | G | A | p.R291* |
| SKCM | TCGA-ER-A19M-06 | exon_skip_339592 | 63631183 | 63631792 | 63631766 | 63631766 | Nonsense_Mutation | C | T | p.W284X |
| SKCM | TCGA-ER-A19M-06 | exon_skip_339592 | 63631183 | 63631792 | 63631766 | 63631766 | Nonsense_Mutation | C | T | p.W92* |
| DLBC | TCGA-FF-A7CX-01 | exon_skip_339595 | 63660879 | 63661070 | 63661025 | 63661025 | Nonsense_Mutation | G | A | p.R227X |
| HNSC | TCGA-CV-7568-01 | exon_skip_339595 | 63660879 | 63661070 | 63661028 | 63661028 | Nonsense_Mutation | C | A | p.E34* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_339600 exon_skip_339601 | 63712051 | 63712121 | 63712074 | 63712074 | Nonsense_Mutation | G | A | p.R101* |
| HNSC | TCGA-HD-7754-01 | exon_skip_339588 | 63605521 | 63605644 | 63605643 | 63605645 | Splice_Site | TGC | - | p.350_splice |
| - 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 |
| HCT116_LARGE_INTESTINE | 63609041 | 63609229 | 63609043 | 63609044 | Frame_Shift_Del | TC | - | p.E541fs |
| SNU719_STOMACH | 63380630 | 63380709 | 63380686 | 63380686 | Missense_Mutation | T | G | p.E701A |
| SUIT2_PANCREAS | 63380630 | 63380709 | 63380707 | 63380707 | Missense_Mutation | T | C | p.Q694R |
| SNU1040_LARGE_INTESTINE | 63486442 | 63486544 | 63486457 | 63486457 | Missense_Mutation | T | C | p.I634V |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63486442 | 63486544 | 63486469 | 63486469 | Missense_Mutation | C | A | p.D630Y |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63486442 | 63486544 | 63486496 | 63486496 | Missense_Mutation | C | T | p.V621M |
| CORL23_LUNG | 63605521 | 63605644 | 63605538 | 63605538 | Missense_Mutation | G | T | p.F577L |
| BB49EBV_MATCHED_NORMAL_TISSUE | 63605521 | 63605644 | 63605569 | 63605569 | Missense_Mutation | C | T | p.R567K |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63605521 | 63605644 | 63605585 | 63605585 | Missense_Mutation | T | G | p.T562P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 63605521 | 63605644 | 63605633 | 63605633 | Missense_Mutation | T | C | p.T546A |
| GCIY_STOMACH | 63609041 | 63609229 | 63609078 | 63609078 | Missense_Mutation | G | T | p.N529K |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63631183 | 63631792 | 63631333 | 63631333 | Missense_Mutation | T | A | p.S429C |
| HEC251_ENDOMETRIUM | 63631183 | 63631792 | 63631412 | 63631412 | Missense_Mutation | T | G | p.Q402H |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63631183 | 63631792 | 63631629 | 63631629 | Missense_Mutation | G | A | p.S330L |
| NCIH2110_LUNG | 63631183 | 63631792 | 63631716 | 63631716 | Missense_Mutation | G | A | p.T301I |
| MELHO_SKIN | 63631183 | 63631792 | 63631731 | 63631731 | Missense_Mutation | G | A | p.P296L |
| SW982_SOFT_TISSUE | 63660879 | 63661070 | 63660943 | 63660943 | Missense_Mutation | G | A | p.P254L |
| HT115_LARGE_INTESTINE | 63712051 | 63712121 | 63712118 | 63712118 | Missense_Mutation | C | A | p.R86L |
| SARC9371_BONE | 63713676 | 63713720 | 63713700 | 63713700 | Missense_Mutation | C | T | p.E77K |
| HEC251_ENDOMETRIUM | 63660879 | 63661070 | 63661028 | 63661028 | Nonsense_Mutation | C | A | p.E226* |
| LK2_LUNG | 63713676 | 63713720 | 63713677 | 63713677 | Splice_Site | C | T | p.E84E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDPCP |
| 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 WDPCP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDPCP |
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RelatedDrugs for WDPCP |
| 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 WDPCP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WDPCP | C1857587 | Orstavik Lindemann Solberg syndrome | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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