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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 PAX7 |
 Gene summary |
| Gene information | Gene symbol | PAX7 | Gene ID | 5081 |
| Gene name | paired box 7 | |
| Synonyms | HUP1|PAX7B|RMS2 | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | paired box protein Pax-7PAX7 transcriptional factorpaired box homeotic gene 7paired domain gene 7 | |
| Modification date | 20180527 | |
| UniProtAcc | P23759 | |
| Context | PubMed: PAX7 [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 PAX7 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 PAX7 |
| 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 PAX7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2137 | 1 | 18958017:18958182:18960796:18961032:18961604:18961734 | 18960796:18961032 | ENSG00000009709.7 | ENST00000420770.2,ENST00000400661.3 |
| exon_skip_2139 | 1 | 19029587:19029790:19062125:19062372:19071307:19075360 | 19062125:19062372 | ENSG00000009709.7 | ENST00000420770.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAX7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| 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 PAX7 |
| 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 |
| 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 PAX7 |
| 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 PAX7 |
| - 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_2139 | 19062126 | 19062372 | 19062159 | 19062159 | Frame_Shift_Del | C | - | p.P398fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_2139 | 19062126 | 19062372 | 19062159 | 19062159 | Frame_Shift_Del | C | - | p.P398fs |
| SKCM | TCGA-D3-A8GQ-06 | exon_skip_2137 | 18960797 | 18961032 | 18960829 | 18960829 | Nonsense_Mutation | C | T | p.Q40* |
| - 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 |
| DV90_LUNG | 18960797 | 18961032 | 18960932 | 18960932 | Missense_Mutation | G | A | p.R74Q |
| HCT15_LARGE_INTESTINE | 18960797 | 18961032 | 18960984 | 18960984 | Missense_Mutation | G | T | p.Q91H |
| HRT18_LARGE_INTESTINE | 18960797 | 18961032 | 18960984 | 18960984 | Missense_Mutation | G | T | p.Q91H |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18960797 | 18961032 | 18961001 | 18961001 | Missense_Mutation | G | T | p.R97L |
| TGBC11TKB_STOMACH | 19062126 | 19062372 | 19062154 | 19062154 | Missense_Mutation | C | T | p.A395V |
| NCIH510_LUNG | 19062126 | 19062372 | 19062190 | 19062190 | Missense_Mutation | C | A | p.S407Y |
| KM12_LARGE_INTESTINE | 19062126 | 19062372 | 19062192 | 19062192 | Missense_Mutation | C | T | p.P408S |
| RERFLCAD2_LUNG | 19062126 | 19062372 | 19062192 | 19062192 | Missense_Mutation | C | A | p.P408T |
| NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19062126 | 19062372 | 19062339 | 19062339 | Missense_Mutation | G | T | p.V457L |
| MERO84_LUNG | 18960797 | 18961032 | 18960985 | 18960985 | Nonsense_Mutation | G | T | p.E92* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAX7 |
| 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 PAX7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAX7 |
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RelatedDrugs for PAX7 |
| 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 PAX7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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