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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for TPD52L1 |
 Gene summary |
| Gene information | Gene symbol | TPD52L1 | Gene ID | 7164 |
| Gene name | TPD52 like 1 | |
| Synonyms | D53|TPD53 | |
| Cytomap | 6q22.31 | |
| Type of gene | protein-coding | |
| Description | tumor protein D53tumor protein D52 like 1 | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TPD52L1 | GO:0000086 | G2/M transition of mitotic cell cycle | 16112108 |
| TPD52L1 | GO:0043406 | positive regulation of MAP kinase activity | 14761963 |
| TPD52L1 | GO:0046330 | positive regulation of JNK cascade | 14761963 |
| TPD52L1 | GO:2001235 | positive regulation of apoptotic signaling pathway | 14761963 |
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Gene structures and expression levels for TPD52L1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000111907
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000530868.1 | TPD52L1-209:lncRNA:TPD52L1 | 6.012165e+01 | 8.383016e-01 | 1.679552e-03 | 4.982609e-02 |
| PG | UP | ENST00000528193.5 | TPD52L1-208:protein_coding:TPD52L1 | 1.375233e+01 | 8.714611e-01 | 4.776156e-03 | 4.426106e-02 |
| TC | UP | ENST00000368402.9 | TPD52L1-203:protein_coding:TPD52L1 | 1.888568e+03 | 9.444677e-01 | 1.556788e-13 | 7.308721e-11 |
| TC | UP | ENST00000534368.5 | TPD52L1-215:protein_coding:TPD52L1 | 2.805186e+00 | 2.026224e+00 | 1.644208e-09 | 1.989188e-07 |
| TC | UP | ENST00000532978.5 | TPD52L1-212:retained_intron:TPD52L1 | 1.401608e+02 | 8.275377e-01 | 1.607793e-07 | 8.988985e-06 |
| TC | UP | ENST00000392483.6 | TPD52L1-205:retained_intron:TPD52L1 | 1.189311e+02 | 1.046680e+00 | 2.153278e-04 | 2.966709e-03 |
| TC | UP | ENST00000524679.1 | TPD52L1-206:protein_coding:TPD52L1 | 6.757735e+00 | 8.327735e-01 | 3.915403e-04 | 4.750703e-03 |
| TC | UP | ENST00000532423.5 | TPD52L1-210:retained_intron:TPD52L1 | 1.028457e+01 | 1.583155e+00 | 2.101783e-03 | 1.741329e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TPD52L1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_175652 | chr6 | 125248340:125248383:125253717:125253755:125262834:125263038 | 125253717:125253755 |
| exon_skip_175725 | chr6 | 125253717:125253755:125257098:125257158:125262834:125263038 | 125257098:125257158 |
| exon_skip_187761 | chr6 | 125248282:125248383:125252022:125252036:125253717:125253739 | 125252022:125252036 |
| exon_skip_188300 | chr6 | 125253741:125253755:125257098:125257158:125262834:125263038 | 125257098:125257158 |
| exon_skip_194292 | chr6 | 125248340:125248383:125257098:125257158:125262834:125263038 | 125257098:125257158 |
| exon_skip_21721 | chr6 | 125248282:125248383:125253717:125253755:125257098:125257158 | 125253717:125253755 |
| exon_skip_222386 | chr6 | 125248282:125248383:125252022:125252036:125253717:125253755 | 125252022:125252036 |
| exon_skip_22712 | chr6 | 125248282:125248383:125253717:125253755:125262834:125263038 | 125253717:125253755 |
| exon_skip_237814 | chr6 | 125248340:125248383:125253717:125253755:125257098:125257158 | 125253717:125253755 |
| exon_skip_245187 | chr6 | 125220078:125220193:125229118:125229266:125248282:125248360 | 125229118:125229266 |
| exon_skip_24826 | chr6 | 125248340:125248383:125252022:125252036:125253717:125253755 | 125252022:125252036 |
| exon_skip_277936 | chr6 | 125253717:125253755:125257098:125257180:125262834:125263038 | 125257098:125257180 |
| exon_skip_44981 | chr6 | 125248282:125248383:125257098:125257158:125262834:125263038 | 125257098:125257158 |
| exon_skip_47243 | chr6 | 125253741:125253755:125257098:125257180:125262834:125263038 | 125257098:125257180 |
| exon_skip_84223 | chr6 | 125153900:125153970:125220078:125220193:125229118:125229266 | 125220078:125220193 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_175725 | ROSMAP_DLPFC | 5.611211e-01 | 6.775000e-01 | -1.163789e-01 | 1.312863e-15 |
| exon_skip_188300 | ROSMAP_PCC | 5.860000e-01 | 7.083529e-01 | -1.223529e-01 | 3.333086e-10 |
| exon_skip_22712 | MSBB_PG | 7.079661e-01 | 5.804444e-01 | 1.275217e-01 | 7.179844e-03 |
| exon_skip_22712 | Mayo_CB | 6.274074e-01 | 5.265714e-01 | 1.008360e-01 | 1.354973e-02 |
| exon_skip_175725 | Mayo_CB | 5.541975e-01 | 6.714865e-01 | -1.172890e-01 | 7.633922e-07 |
| exon_skip_22712 | Mayo_TC | 7.309756e-01 | 6.296104e-01 | 1.013652e-01 | 6.433715e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for TPD52L1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000534000 | 125220078 | 125220193 | Frame-shift |
| ENST00000534000 | 125229118 | 125229266 | Frame-shift |
| ENST00000534000 | 125257098 | 125257158 | Frame-shift |
| ENST00000534000 | 125253717 | 125253755 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000534000 | 125257098 | 125257158 | Frame-shift |
| ENST00000534000 | 125253717 | 125253755 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000534000 | 125220078 | 125220193 | Frame-shift |
| ENST00000534000 | 125229118 | 125229266 | Frame-shift |
| ENST00000534000 | 125257098 | 125257158 | Frame-shift |
| ENST00000534000 | 125253717 | 125253755 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TPD52L1 |
p-ENSG00000111907_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000534000 | 2373 | 204 | 125253717 | 125253755 | 684 | 721 | 129 | 141 |
| Loci of skipped exons in MSBB 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 |
| ENST00000534000 | 2373 | 204 | 125253717 | 125253755 | 684 | 721 | 129 | 141 |
| Loci of skipped exons in Mayo 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 |
| ENST00000534000 | 2373 | 204 | 125253717 | 125253755 | 684 | 721 | 129 | 141 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q16890 | 129 | 141 | 129 | 131 | Alternative sequence | ID=VSP_036752;Note=In isoform 3 and isoform 4. SYS->RRK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9484778,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:9484778 |
| Q16890 | 129 | 141 | 132 | 204 | Alternative sequence | ID=VSP_036753;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9484778,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:9484778 |
| Q16890 | 129 | 141 | 1 | 204 | Chain | ID=PRO_0000185741;Note=Tumor protein D53 |
| Q16890 | 129 | 141 | 131 | 131 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q16890 | 129 | 141 | 133 | 133 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q16890 | 129 | 141 | 129 | 131 | Alternative sequence | ID=VSP_036752;Note=In isoform 3 and isoform 4. SYS->RRK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9484778,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:9484778 |
| Q16890 | 129 | 141 | 132 | 204 | Alternative sequence | ID=VSP_036753;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9484778,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:9484778 |
| Q16890 | 129 | 141 | 1 | 204 | Chain | ID=PRO_0000185741;Note=Tumor protein D53 |
| Q16890 | 129 | 141 | 131 | 131 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q16890 | 129 | 141 | 133 | 133 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q16890 | 129 | 141 | 129 | 131 | Alternative sequence | ID=VSP_036752;Note=In isoform 3 and isoform 4. SYS->RRK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9484778,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:9484778 |
| Q16890 | 129 | 141 | 132 | 204 | Alternative sequence | ID=VSP_036753;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9484778,ECO:0000303|Ref.3;Dbxref=PMID:14702039,PMID:9484778 |
| Q16890 | 129 | 141 | 1 | 204 | Chain | ID=PRO_0000185741;Note=Tumor protein D53 |
| Q16890 | 129 | 141 | 131 | 131 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q16890 | 129 | 141 | 133 | 133 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TPD52L1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for TPD52L1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for TPD52L1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | ROSMAP | DLPFC | exon_skip_175725 | -4.275051e-01 | 1.130000e-16 | chr6 | + | 125253717 | 125253755 | 125257098 | 125257158 | 125262834 | 125263038 |
| ADstage | ROSMAP | HCC | exon_skip_175725 | -4.039646e-01 | 3.860000e-12 | chr6 | + | 125253717 | 125253755 | 125257098 | 125257158 | 125262834 | 125263038 |
| ADstage | ROSMAP | PCC | exon_skip_188300 | -4.795534e-01 | 9.180000e-14 | chr6 | + | 125253741 | 125253755 | 125257098 | 125257158 | 125262834 | 125263038 |
| ADstage | ROSMAP | PCC | exon_skip_24826 | -3.625062e-01 | 4.460000e-08 | chr6 | + | 125248340 | 125248383 | 125252022 | 125252036 | 125253717 | 125253755 |
| CDR | MSBB | IFG | exon_skip_175725 | -4.380475e-01 | 1.972862e-02 | chr6 | + | 125253717 | 125253755 | 125257098 | 125257158 | 125262834 | 125263038 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TPD52L1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_22712 | rs3799731 | chr6:125255226 | 2.322226e-05 | 2.368203e-03 |
| DLPFC | exon_skip_22712 | rs3799732 | chr6:125253363 | 3.244066e-05 | 3.159758e-03 |
| DLPFC | exon_skip_22712 | rs3823218 | chr6:125254594 | 3.244066e-05 | 3.159758e-03 |
| DLPFC | exon_skip_22712 | rs4142130 | chr6:125264587 | 4.031412e-05 | 3.826245e-03 |
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Correlation with RNA binding proteins (RBPs) for TPD52L1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP1 | exon_skip_22712 | 4.256229e-01 | 5.092934e-08 |
| DLPFC | RBM3 | exon_skip_22712 | -4.873147e-01 | 9.698771e-22 |
| DLPFC | RBM3 | exon_skip_175725 | 4.627558e-01 | 1.322642e-19 |
| FL | RBM3 | exon_skip_22712 | -5.776136e-01 | 1.576324e-15 |
| FL | RBM3 | exon_skip_175725 | 4.837937e-01 | 7.796909e-13 |
| HCC | RBM3 | exon_skip_22712 | -5.485259e-01 | 9.066780e-23 |
| HCC | ZNF326 | exon_skip_175725 | -5.100323e-01 | 1.751333e-19 |
| HCC | RBM47 | exon_skip_175725 | -4.030004e-01 | 4.392521e-12 |
| HCC | RBM41 | exon_skip_175725 | -4.096442e-01 | 1.800317e-12 |
| HCC | HNRNPF | exon_skip_175725 | -5.731183e-01 | 3.100632e-25 |
| IFG | RBM3 | exon_skip_22712 | -7.762336e-01 | 1.948734e-06 |
| IFG | HNRNPK | exon_skip_22712 | -4.426456e-01 | 2.077063e-02 |
| IFG | RBM3 | exon_skip_175725 | 4.471236e-01 | 1.705451e-02 |
| IFG | HNRNPF | exon_skip_277936 | 4.167296e-01 | 4.791068e-02 |
| PCC | RBM3 | exon_skip_175652 | -6.429176e-01 | 1.816264e-26 |
| PCC | RBM3 | exon_skip_188300 | 5.324902e-01 | 3.832919e-17 |
| PCC | RBM3 | exon_skip_47243 | 4.480796e-01 | 5.781868e-12 |
| PG | RBM3 | exon_skip_22712 | -5.977434e-01 | 3.643276e-17 |
| PG | RBM3 | exon_skip_175725 | 5.661236e-01 | 1.984720e-18 |
| PG | NUP42 | exon_skip_175725 | 4.120135e-01 | 1.224833e-09 |
| STG | RBM3 | exon_skip_22712 | -4.289466e-01 | 1.896912e-04 |
| STG | RBM3 | exon_skip_175725 | 4.287285e-01 | 2.236052e-05 |
| TC | RBM3 | exon_skip_22712 | -5.889070e-01 | 3.226852e-16 |
| TC | RBM3 | exon_skip_44981 | 4.689393e-01 | 4.535162e-10 |
| TC | SRSF2 | exon_skip_175725 | 4.749843e-01 | 2.208973e-10 |
| TC | RBM3 | exon_skip_175725 | 6.103573e-01 | 1.050505e-17 |
| TC | NOVA1 | exon_skip_175725 | 4.984930e-01 | 1.972487e-11 |
| TC | RBM3 | exon_skip_277936 | 4.814776e-01 | 1.321028e-10 |
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RelatedDrugs for TPD52L1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TPD52L1 |
| 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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