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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 PAXIP1 |
 Gene summary |
| Gene information | Gene symbol | PAXIP1 | Gene ID | 22976 |
| Gene name | PAX interacting protein 1 | |
| Synonyms | CAGF28|CAGF29|PACIP1|PAXIP1L|PTIP|TNRC2 | |
| Cytomap | 7q36.2 | |
| Type of gene | protein-coding | |
| Description | PAX-interacting protein 1PAX interacting (with transcription-activation domain) protein 1PAX transcription activation domain interacting protein 1 likeprotein encoded by CAG trinucleotide repeats | |
| Modification date | 20180522 | |
| UniProtAcc | Q6ZW49 | |
| Context | PubMed: PAXIP1 [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 |
| PAXIP1 | GO:0010212 | response to ionizing radiation | 15456759 |
| PAXIP1 | GO:0051568 | histone H3-K4 methylation | 17178841 |
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Exon skipping events across known transcript of Ensembl for PAXIP1 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 PAXIP1 |
| 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 PAXIP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_480741 | 7 | 154738074:154738135:154738221:154738297:154738388:154738523 | 154738221:154738297 | ENSG00000157212.14 | ENST00000473219.1,ENST00000464717.1,ENST00000404141.1,ENST00000397192.1,ENST00000457196.1 |
| exon_skip_480742 | 7 | 154747238:154747341:154748933:154749004:154751599:154751643 | 154748933:154749004 | ENSG00000157212.14 | ENST00000473219.1,ENST00000464717.1,ENST00000404141.1,ENST00000397192.1,ENST00000457196.1 |
| exon_skip_480745 | 7 | 154760758:154760836:154767405:154768041:154774928:154775042 | 154767405:154768041 | ENSG00000157212.14 | ENST00000473219.1,ENST00000404141.1,ENST00000475066.1,ENST00000397192.1,ENST00000457196.1 |
| exon_skip_480747 | 7 | 154774928:154775042:154777726:154777889:154782715:154782777 | 154777726:154777889 | ENSG00000157212.14 | ENST00000457196.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAXIP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_480741 | 7 | 154738074:154738135:154738221:154738297:154738388:154738523 | 154738221:154738297 | ENSG00000157212.14 | ENST00000404141.1,ENST00000457196.1,ENST00000464717.1,ENST00000397192.1,ENST00000473219.1 |
| exon_skip_480742 | 7 | 154747238:154747341:154748933:154749004:154751599:154751643 | 154748933:154749004 | ENSG00000157212.14 | ENST00000404141.1,ENST00000457196.1,ENST00000464717.1,ENST00000397192.1,ENST00000473219.1 |
| exon_skip_480745 | 7 | 154760758:154760836:154767405:154768041:154774928:154775042 | 154767405:154768041 | ENSG00000157212.14 | ENST00000404141.1,ENST00000457196.1,ENST00000397192.1,ENST00000473219.1,ENST00000475066.1 |
| exon_skip_480747 | 7 | 154774928:154775042:154777726:154777889:154782715:154782777 | 154777726:154777889 | ENSG00000157212.14 | ENST00000457196.1 |
| 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 PAXIP1 |
| 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 PAXIP1 |
| 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 PAXIP1 |
| - 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-A3A0-01 | exon_skip_480742 | 154748934 | 154749004 | 154748978 | 154748978 | Frame_Shift_Del | T | - | p.K835fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_480745 | 154767406 | 154768041 | 154767673 | 154767673 | Frame_Shift_Del | G | - | p.A269fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_480745 | 154767406 | 154768041 | 154767939 | 154767939 | Frame_Shift_Del | A | - | p.Y181fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_480745 | 154767406 | 154768041 | 154768002 | 154768002 | Frame_Shift_Del | T | - | p.I160fs |
| HNSC | TCGA-BA-6870-01 | exon_skip_480741 | 154738222 | 154738297 | 154738224 | 154738225 | Frame_Shift_Ins | - | T | p.I1044fs |
| HNSC | TCGA-BA-6870-01 | exon_skip_480741 | 154738222 | 154738297 | 154738224 | 154738225 | Frame_Shift_Ins | - | T | p.R1044fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_480745 | 154767406 | 154768041 | 154767544 | 154767545 | Frame_Shift_Ins | - | A | p.Y312fs |
| SKCM | TCGA-BF-A5ES-01 | exon_skip_480745 | 154767406 | 154768041 | 154767776 | 154767777 | Frame_Shift_Ins | - | A | p.T235fs |
| KIRP | TCGA-4A-A93X-01 | exon_skip_480741 | 154738222 | 154738297 | 154738247 | 154738247 | Nonsense_Mutation | G | T | p.C1036X |
| UCEC | TCGA-B5-A11E-01 | exon_skip_480745 | 154767406 | 154768041 | 154767882 | 154767882 | Nonsense_Mutation | C | A | p.E200* |
| COAD | TCGA-CM-6674-01 | exon_skip_480745 | 154767406 | 154768041 | 154768017 | 154768017 | Nonsense_Mutation | G | A | p.R155X |
| STAD | TCGA-CG-5721-01 | exon_skip_480742 | 154748934 | 154749004 | 154748932 | 154748932 | Splice_Site | A | G | p.R850_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 |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154738222 | 154738297 | 154738279 | 154738279 | Missense_Mutation | A | C | p.L1026V |
| NCIH2171_LUNG | 154767406 | 154768041 | 154767433 | 154767433 | Missense_Mutation | C | A | p.Q349H |
| HEC59_ENDOMETRIUM | 154767406 | 154768041 | 154767474 | 154767474 | Missense_Mutation | G | A | p.R336W |
| SNU719_STOMACH | 154767406 | 154768041 | 154767474 | 154767474 | Missense_Mutation | G | A | p.R336W |
| HEC251_ENDOMETRIUM | 154767406 | 154768041 | 154767546 | 154767546 | Missense_Mutation | A | C | p.L312V |
| SNU685_ENDOMETRIUM | 154767406 | 154768041 | 154767806 | 154767806 | Missense_Mutation | T | A | p.E225V |
| SNU685_ENDOMETRIUM | 154767406 | 154768041 | 154767806 | 154767807 | Missense_Mutation | TC | AA | p.E225L |
| SNU398_LIVER | 154767406 | 154768041 | 154767819 | 154767819 | Missense_Mutation | C | T | p.A221T |
| HEC251_ENDOMETRIUM | 154767406 | 154768041 | 154767857 | 154767857 | Missense_Mutation | G | T | p.S208Y |
| NCIH1770_LUNG | 154767406 | 154768041 | 154767876 | 154767876 | Missense_Mutation | C | T | p.E202K |
| NCIH2106_LUNG | 154767406 | 154768041 | 154767876 | 154767876 | Missense_Mutation | C | T | p.E202K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154767406 | 154768041 | 154767929 | 154767929 | Missense_Mutation | C | T | p.R184H |
| SNU685_ENDOMETRIUM | 154767406 | 154768041 | 154767807 | 154767807 | Nonsense_Mutation | C | A | p.E225* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAXIP1 |
| 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 PAXIP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAXIP1 |
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RelatedDrugs for PAXIP1 |
| 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 PAXIP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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