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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 PAX3 |
 Gene summary |
| Gene information | Gene symbol | PAX3 | Gene ID | 5077 |
| Gene name | paired box 3 | |
| Synonyms | CDHS|HUP2|WS1|WS3 | |
| Cytomap | 2q36.1 | |
| Type of gene | protein-coding | |
| Description | paired box protein Pax-3paired box homeotic gene 3paired domain gene 3paired domain gene HuP2transcriptional factor PAX3 | |
| Modification date | 20180522 | |
| UniProtAcc | P23760 | |
| Context | PubMed: PAX3 [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 |
| PAX3 | GO:0045893 | positive regulation of transcription, DNA-templated | 11863357 |
| PAX3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11863357 |
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Exon skipping events across known transcript of Ensembl for PAX3 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 PAX3 |
| 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 PAX3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347072 | 2 | 223066130:223066161:223066662:223066909:223084858:223085073 | 223066662:223066909 | ENSG00000135903.14 | ENST00000392070.2,ENST00000392069.2,ENST00000409551.3 |
| exon_skip_347076 | 2 | 223158885:223159020:223160246:223160373:223161696:223161932 | 223160246:223160373 | ENSG00000135903.14 | ENST00000409551.3 |
| exon_skip_347077 | 2 | 223158885:223159020:223160246:223160376:223161696:223161932 | 223160246:223160376 | ENSG00000135903.14 | ENST00000350526.4,ENST00000336840.6,ENST00000392070.2,ENST00000392069.2,ENST00000409828.3,ENST00000258387.5,ENST00000344493.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAX3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347072 | 2 | 223066130:223066161:223066662:223066909:223084858:223085073 | 223066662:223066909 | ENSG00000135903.14 | ENST00000392069.2,ENST00000392070.2,ENST00000409551.3 |
| 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 PAX3 |
| 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 |
| ENST00000350526 | 223160246 | 223160376 | Frame-shift |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PAX3 |
| 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 |
| 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 |
| 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 PAX3 |
| - 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 |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_347072 | 223066663 | 223066909 | 223066692 | 223066692 | Frame_Shift_Del | G | - | p.T464fs |
| SKCM | TCGA-QB-AA9O-06 | exon_skip_347076 | 223160247 | 223160373 | 223160298 | 223160298 | Nonsense_Mutation | G | A | p.R134* |
| SKCM | TCGA-QB-AA9O-06 | exon_skip_347077 | 223160247 | 223160376 | 223160298 | 223160298 | Nonsense_Mutation | G | A | p.R134* |
| COAD | TCGA-AM-5820-01 | exon_skip_347072 | 223066663 | 223066909 | 223066911 | 223066912 | Splice_Site | - | A | . |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 223066663 | 223066909 | 223066768 | 223066769 | Frame_Shift_Del | AG | - | p.L439fs |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223066663 | 223066909 | 223066678 | 223066678 | Missense_Mutation | C | T | p.G469R |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223066663 | 223066909 | 223066717 | 223066717 | Missense_Mutation | T | C | p.T456A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 223066663 | 223066909 | 223066717 | 223066717 | Missense_Mutation | T | C | p.T456A |
| SNUC5_LARGE_INTESTINE | 223066663 | 223066909 | 223066722 | 223066722 | Missense_Mutation | C | T | p.S454N |
| HCT15_LARGE_INTESTINE | 223066663 | 223066909 | 223066732 | 223066732 | Missense_Mutation | G | T | p.P451T |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 223066663 | 223066909 | 223066765 | 223066765 | Missense_Mutation | C | A | p.D440Y |
| RCCJW_KIDNEY | 223066663 | 223066909 | 223066779 | 223066779 | Missense_Mutation | T | C | p.H435R |
| KYSE270_OESOPHAGUS | 223066663 | 223066909 | 223066788 | 223066788 | Missense_Mutation | C | G | p.R432T |
| RHJT_SOFT_TISSUE | 223066663 | 223066909 | 223066812 | 223066812 | Missense_Mutation | G | T | p.T424K |
| OVK18_OVARY | 223160247 | 223160373 | 223160274 | 223160274 | Missense_Mutation | C | T | p.V142I |
| OVK18_OVARY | 223160247 | 223160376 | 223160274 | 223160274 | Missense_Mutation | C | T | p.V142I |
| NCIH446_LUNG | 223160247 | 223160373 | 223160307 | 223160307 | Missense_Mutation | A | C | p.W131G |
| NCIH446_LUNG | 223160247 | 223160376 | 223160307 | 223160307 | Missense_Mutation | A | C | p.W131G |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223160247 | 223160373 | 223160337 | 223160337 | Missense_Mutation | A | G | p.Y121H |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 223160247 | 223160376 | 223160337 | 223160337 | Missense_Mutation | A | G | p.Y121H |
| SNU81_LARGE_INTESTINE | 223160247 | 223160373 | 223160353 | 223160353 | Missense_Mutation | C | A | p.E115D |
| SNU81_LARGE_INTESTINE | 223160247 | 223160376 | 223160353 | 223160353 | Missense_Mutation | C | A | p.E115D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAX3 |
| 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 PAX3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAX3 |
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RelatedDrugs for PAX3 |
| 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 PAX3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAX3 | C1847800 | Waardenburg Syndrome Type 1 | 14 | ORPHANET;UNIPROT |
| PAX3 | C0079661 | Klein's Syndrome | 5 | ORPHANET;UNIPROT |
| PAX3 | C0080178 | Spina Bifida | 4 | CTD_human |
| PAX3 | C0027794 | Neural Tube Defects | 3 | CTD_human |
| PAX3 | C1852510 | Craniofacial deafness hand syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| PAX3 | C0011053 | Deafness | 1 | CTD_human;HPO |
| PAX3 | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
| PAX3 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| PAX3 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
| PAX3 | C1261473 | Sarcoma | 1 | CTD_human |
| PAX3 | C1710096 | Sinonasal undifferentiated carcinoma | 1 | CTD_human |
| PAX3 | C3266898 | Waardenburg Syndrome | 1 | CTD_human |
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