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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 TP63 |
 Gene summary |
| Gene information | Gene symbol | TP63 | Gene ID | 8626 |
| Gene name | tumor protein p63 | |
| Synonyms | AIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L | |
| Cytomap | 3q28 | |
| Type of gene | protein-coding | |
| Description | tumor protein 63amplified in squamous cell carcinomachronic ulcerative stomatitis proteinkeratinocyte transcription factor KETtransformation-related protein 63tumor protein p53-competing protein | |
| Modification date | 20180521 | |
| UniProtAcc | Q9H3D4 | |
| Context | PubMed: TP63 [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 |
| TP63 | GO:0045747 | positive regulation of Notch signaling pathway | 11641404 |
| TP63 | GO:0045892 | negative regulation of transcription, DNA-templated | 12446784 |
| TP63 | GO:0045893 | positive regulation of transcription, DNA-templated | 12446784|16343436 |
| TP63 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22521434 |
| TP63 | GO:2000271 | positive regulation of fibroblast apoptotic process | 9774969 |
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Exon skipping events across known transcript of Ensembl for TP63 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 TP63 |
| 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 TP63 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380499 | 3 | 189456430:189456563:189526060:189526315:189582020:189582057 | 189526060:189526315 | ENSG00000073282.8 | ENST00000418709.2,ENST00000320472.5,ENST00000440651.2,ENST00000392460.3,ENST00000264731.3 |
| exon_skip_380505 | 3 | 189507589:189507631:189526060:189526315:189582020:189582057 | 189526060:189526315 | ENSG00000073282.8 | ENST00000354600.5,ENST00000392463.2,ENST00000460036.1,ENST00000456148.1,ENST00000392461.3,ENST00000437221.1 |
| exon_skip_380510 | 3 | 189526060:189526315:189561985:189562201:189582020:189582057 | 189561985:189562201 | ENSG00000073282.8 | ENST00000434928.1 |
| exon_skip_380512 | 3 | 189590647:189590784:189604182:189604340:189607128:189607273 | 189604182:189604340 | ENSG00000073282.8 | ENST00000354600.5,ENST00000392463.2,ENST00000440651.2,ENST00000456148.1,ENST00000449992.1,ENST00000392460.3,ENST00000382063.4,ENST00000264731.3 |
| exon_skip_380513 | 3 | 189604182:189604340:189607128:189607273:189611994:189612010 | 189607128:189607273 | ENSG00000073282.8 | ENST00000392463.2,ENST00000392460.3 |
| exon_skip_380514 | 3 | 189607210:189607273:189608577:189608671:189611994:189612010 | 189608577:189608671 | ENSG00000073282.8 | ENST00000354600.5,ENST00000440651.2,ENST00000456148.1,ENST00000449992.1,ENST00000382063.4,ENST00000264731.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TP63 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380499 | 3 | 189456430:189456563:189526060:189526315:189582020:189582057 | 189526060:189526315 | ENSG00000073282.8 | ENST00000264731.3,ENST00000418709.2,ENST00000320472.5,ENST00000392460.3,ENST00000440651.2 |
| exon_skip_380505 | 3 | 189507589:189507631:189526060:189526315:189582020:189582057 | 189526060:189526315 | ENSG00000073282.8 | ENST00000354600.5,ENST00000460036.1,ENST00000437221.1,ENST00000392463.2,ENST00000392461.3,ENST00000456148.1 |
| exon_skip_380510 | 3 | 189526060:189526315:189561985:189562201:189582020:189582057 | 189561985:189562201 | ENSG00000073282.8 | ENST00000434928.1 |
| exon_skip_380513 | 3 | 189604182:189604340:189607128:189607273:189611994:189612010 | 189607128:189607273 | ENSG00000073282.8 | ENST00000392460.3,ENST00000392463.2 |
| exon_skip_380514 | 3 | 189607210:189607273:189608577:189608671:189611994:189612010 | 189608577:189608671 | ENSG00000073282.8 | ENST00000264731.3,ENST00000382063.4,ENST00000440651.2,ENST00000354600.5,ENST00000449992.1,ENST00000456148.1 |
| 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 TP63 |
| 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 |
| ENST00000264731 | 189604182 | 189604340 | Frame-shift |
| ENST00000264731 | 189608577 | 189608671 | Frame-shift |
| ENST00000264731 | 189526060 | 189526315 | 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 |
| ENST00000264731 | 189608577 | 189608671 | Frame-shift |
| ENST00000264731 | 189526060 | 189526315 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TP63 |
| 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 |
| ENST00000264731 | 4926 | 680 | 189526060 | 189526315 | 414 | 668 | 108 | 193 |
| 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 |
| ENST00000264731 | 4926 | 680 | 189526060 | 189526315 | 414 | 668 | 108 | 193 |
| 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 |
| 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 |
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SNVs in the skipped exons for TP63 |
| - 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-A39Y-01 | exon_skip_380512 | 189604183 | 189604340 | 189604235 | 189604235 | Frame_Shift_Del | A | - | p.K468fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_380512 | 189604183 | 189604340 | 189604235 | 189604235 | Frame_Shift_Del | A | - | p.K468fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380512 | 189604183 | 189604340 | 189604282 | 189604282 | Frame_Shift_Del | C | - | p.N483fs |
| HNSC | TCGA-CV-6003-01 | exon_skip_380505 exon_skip_380499 | 189526061 | 189526315 | 189526228 | 189526229 | Frame_Shift_Ins | - | A | p.A164fs |
| HNSC | TCGA-CV-6003-01 | exon_skip_380505 exon_skip_380499 | 189526061 | 189526315 | 189526228 | 189526229 | Frame_Shift_Ins | - | A | p.P165fs |
| SKCM | TCGA-FR-A726-01 | exon_skip_380505 exon_skip_380499 | 189526061 | 189526315 | 189526100 | 189526100 | Nonsense_Mutation | C | T | p.Q122* |
| SKCM | TCGA-EB-A3XD-01 | exon_skip_380505 exon_skip_380499 | 189526061 | 189526315 | 189526280 | 189526280 | Nonsense_Mutation | C | T | p.Q182* |
| SKCM | TCGA-EB-A3XD-01 | exon_skip_380505 exon_skip_380499 | 189526061 | 189526315 | 189526280 | 189526280 | Nonsense_Mutation | C | T | p.Q88X |
| CESC | TCGA-C5-A1MF-01 | exon_skip_380514 | 189608578 | 189608671 | 189608648 | 189608648 | Nonsense_Mutation | C | T | p.Q575* |
| - 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 |
| BC3C_URINARY_TRACT | 189526061 | 189526315 | 189526293 | 189526304 | In_Frame_Del | CCGCCAAGTCGG | - | p.AKSA187del |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 189526061 | 189526315 | 189526151 | 189526151 | Missense_Mutation | G | A | p.A139T |
| COLO679_SKIN | 189526061 | 189526315 | 189526179 | 189526179 | Missense_Mutation | C | T | p.P148L |
| SCABER_URINARY_TRACT | 189526061 | 189526315 | 189526197 | 189526197 | Missense_Mutation | C | G | p.S154C |
| OMC1_CERVIX | 189526061 | 189526315 | 189526197 | 189526197 | Missense_Mutation | C | T | p.S154F |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 189526061 | 189526315 | 189526200 | 189526200 | Missense_Mutation | C | T | p.T155I |
| MEWO_SKIN | 189526061 | 189526315 | 189526221 | 189526221 | Missense_Mutation | C | T | p.S162L |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 189526061 | 189526315 | 189526287 | 189526287 | Missense_Mutation | C | T | p.S184L |
| NB1_AUTONOMIC_GANGLIA | 189526061 | 189526315 | 189526287 | 189526287 | Missense_Mutation | C | T | p.S184L |
| JAR_PLACENTA | 189604183 | 189604340 | 189604202 | 189604202 | Missense_Mutation | T | C | p.S457P |
| HCT116_LARGE_INTESTINE | 189604183 | 189604340 | 189604242 | 189604242 | Missense_Mutation | A | G | p.N470S |
| R262_CENTRAL_NERVOUS_SYSTEM | 189604183 | 189604340 | 189604249 | 189604249 | Missense_Mutation | G | T | p.M472I |
| PACADD137_PANCREAS | 189604183 | 189604340 | 189604251 | 189604251 | Missense_Mutation | A | G | p.N473S |
| LS411N_LARGE_INTESTINE | 189604183 | 189604340 | 189604263 | 189604263 | Missense_Mutation | C | T | p.S477F |
| SNUC5_LARGE_INTESTINE | 189604183 | 189604340 | 189604287 | 189604287 | Missense_Mutation | A | G | p.Q485R |
| COLO829_SKIN | 189604183 | 189604340 | 189604330 | 189604330 | Missense_Mutation | G | T | p.M499I |
| HT29_LARGE_INTESTINE | 189607129 | 189607273 | 189607131 | 189607131 | Missense_Mutation | C | T | p.P504S |
| KYSE270_OESOPHAGUS | 189607129 | 189607273 | 189607132 | 189607132 | Missense_Mutation | C | G | p.P504R |
| SKN_ENDOMETRIUM | 189607129 | 189607273 | 189607158 | 189607158 | Missense_Mutation | G | A | p.A513T |
| LOXIMVI_SKIN | 189607129 | 189607273 | 189607237 | 189607237 | Missense_Mutation | C | T | p.P539L |
| VMRCLCP_LUNG | 189608578 | 189608671 | 189608581 | 189608581 | Missense_Mutation | C | G | p.F552L |
| SKOV3_OVARY | 189608578 | 189608671 | 189608603 | 189608603 | Missense_Mutation | T | G | p.S560A |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 189526061 | 189526315 | 189526315 | 189526315 | Splice_Site | G | A | p.T193T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TP63 |
| 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 TP63 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TP63 |
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RelatedDrugs for TP63 |
| 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 TP63 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TP63 | C1785148 | RAPP-HODGKIN SYNDROME | 6 | CTD_human;ORPHANET;UNIPROT |
| TP63 | C1858562 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 | 5 | CTD_human;UNIPROT |
| TP63 | C0406709 | Hay-Wells syndrome | 3 | CTD_human;UNIPROT |
| TP63 | C0024121 | Lung Neoplasms | 2 | CTD_human |
| TP63 | C1854442 | SPLIT-HAND/FOOT MALFORMATION 4 | 2 | CTD_human;UNIPROT |
| TP63 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| TP63 | C0006145 | Breast Diseases | 1 | CTD_human |
| TP63 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| TP63 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| TP63 | C0008924 | Cleft Lip | 1 | CTD_human;HPO;ORPHANET |
| TP63 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| TP63 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| TP63 | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
| TP63 | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
| TP63 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| TP63 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| TP63 | C0037268 | Skin Abnormalities | 1 | CTD_human |
| TP63 | C0038987 | Sweat Gland Neoplasms | 1 | CTD_human |
| TP63 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| TP63 | C0206720 | Squamous Cell Neoplasms | 1 | CTD_human |
| TP63 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| TP63 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| TP63 | C0406704 | Rudiger syndrome 1 | 1 | CTD_human;ORPHANET |
| TP63 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| TP63 | C1720887 | Female Urogenital Diseases | 1 | CTD_human |
| TP63 | C1863204 | ADULT SYNDROME | 1 | CTD_human;ORPHANET;UNIPROT |
| TP63 | C1863753 | LIMB-MAMMARY SYNDROME | 1 | CTD_human;ORPHANET |
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