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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 TPD52L2 |
 Gene summary |
| Gene information | Gene symbol | TPD52L2 | Gene ID | 7165 |
| Gene name | TPD52 like 2 | |
| Synonyms | D54|TPD54 | |
| Cytomap | 20q13.33 | |
| Type of gene | protein-coding | |
| Description | tumor protein D54HCCR-binding protein 2tumor protein D52 like 2 | |
| Modification date | 20200313 | |
| 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 |
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Gene structures and expression levels for TPD52L2 |
| 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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ENSG00000101150
| 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 |
| PG | UP | ENST00000346249.8 | TPD52L2-202:protein_coding:TPD52L2 | 5.125420e+01 | 2.083830e+00 | 6.764267e-08 | 1.102926e-05 |
| CB | DOWN | ENST00000611972.4 | TPD52L2-209:protein_coding:TPD52L2 | 8.595448e+02 | -1.119233e+00 | 1.371823e-12 | 1.926113e-10 |
| 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 TPD52L2 |
| 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_104964 | chr20 | 63873668:63873816:63882719:63882820:63889190:63889238 | 63882719:63882820 |
| exon_skip_108393 | chr20 | 63873751:63873816:63875816:63875875:63882719:63882820 | 63875816:63875875 |
| exon_skip_115889 | chr20 | 63865243:63865384:63869365:63869441:63873668:63873805 | 63869365:63869441 |
| exon_skip_117816 | chr20 | 63865294:63865384:63869365:63869441:63873668:63873805 | 63869365:63869441 |
| exon_skip_14081 | chr20 | 63882754:63882820:63887564:63887605:63889190:63889238 | 63887564:63887605 |
| exon_skip_153748 | chr20 | 63873668:63873816:63875816:63875875:63882719:63882820 | 63875816:63875875 |
| exon_skip_20274 | chr20 | 63882750:63882820:63887564:63887605:63889190:63889238 | 63887564:63887605 |
| exon_skip_204176 | chr20 | 63882719:63882820:63889190:63889238:63889850:63890424 | 63889190:63889238 |
| exon_skip_210663 | chr20 | 63882754:63882820:63886016:63886042:63887564:63887605 | 63886016:63886042 |
| exon_skip_222891 | chr20 | 63882750:63882820:63889190:63889238:63889850:63890122 | 63889190:63889238 |
| exon_skip_244167 | chr20 | 63882750:63882820:63889190:63889238:63889850:63891545 | 63889190:63889238 |
| exon_skip_255655 | chr20 | 63873751:63873816:63882719:63882820:63889190:63889238 | 63882719:63882820 |
| exon_skip_262020 | chr20 | 63882719:63882820:63889190:63889238:63889850:63890122 | 63889190:63889238 |
| exon_skip_262614 | chr20 | 63882750:63882820:63886016:63886042:63887564:63887605 | 63886016:63886042 |
| exon_skip_263262 | chr20 | 63869365:63869441:63873668:63873816:63875816:63875875 | 63873668:63873816 |
| exon_skip_281303 | chr20 | 63865294:63865384:63869296:63869441:63873668:63873805 | 63869296:63869441 |
| exon_skip_289091 | chr20 | 63882750:63882820:63889190:63889238:63889850:63890424 | 63889190:63889238 |
| 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_255998 | MSBB_PG | 3.953636e-01 | 6.412500e-01 | -2.458864e-01 | 1.665600e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for TPD52L2 |
| 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 |
| ENST00000346249 | 63869296 | 63869441 | Frame-shift |
| ENST00000346249 | 63889190 | 63889238 | Frame-shift |
| ENST00000346249 | 63875816 | 63875875 | 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 |
| ENST00000346249 | 63889190 | 63889238 | Frame-shift |
| ENST00000346249 | 63875816 | 63875875 | 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 |
| ENST00000346249 | 63869296 | 63869441 | Frame-shift |
| ENST00000346249 | 63873668 | 63873816 | Frame-shift |
| ENST00000346249 | 63889190 | 63889238 | Frame-shift |
| ENST00000346249 | 63875816 | 63875875 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TPD52L2 |
p-ENSG00000101150_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 |
| ENST00000346249 | 2314 | 206 | 63875816 | 63875875 | 392 | 450 | 105 | 124 |
| 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 |
| ENST00000346249 | 2314 | 206 | 63875816 | 63875875 | 392 | 450 | 105 | 124 |
| 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 |
| ENST00000346249 | 2314 | 206 | 63875816 | 63875875 | 392 | 450 | 105 | 124 |
| 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 |
| O43399 | 105 | 124 | 106 | 125 | Alternative sequence | ID=VSP_006547;Note=In isoform 2%2C isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43399 | 105 | 124 | 1 | 206 | Chain | ID=PRO_0000185744;Note=Tumor protein D54 |
| 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 |
| O43399 | 105 | 124 | 106 | 125 | Alternative sequence | ID=VSP_006547;Note=In isoform 2%2C isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43399 | 105 | 124 | 1 | 206 | Chain | ID=PRO_0000185744;Note=Tumor protein D54 |
| 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 |
| O43399 | 105 | 124 | 106 | 125 | Alternative sequence | ID=VSP_006547;Note=In isoform 2%2C isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43399 | 105 | 124 | 1 | 206 | Chain | ID=PRO_0000185744;Note=Tumor protein D54 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TPD52L2 |
| 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 TPD52L2 |
| - 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 TPD52L2 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TPD52L2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_262614 | rs6010691 | chr20:63892747 | 2.923153e-04 | 2.210580e-02 |
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Correlation with RNA binding proteins (RBPs) for TPD52L2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_153748 | -4.399293e-01 | 6.546891e-09 |
| CB | PCBP4 | exon_skip_153748 | 4.642977e-01 | 7.070875e-10 |
| CB | TIA1 | exon_skip_230432 | 5.355875e-01 | 3.486840e-13 |
| CB | PCBP4 | exon_skip_230432 | 4.112964e-01 | 7.220139e-08 |
| CB | NUP42 | exon_skip_230432 | 6.626427e-01 | 1.846664e-21 |
| CB | RALYL | exon_skip_230432 | 5.209298e-01 | 1.933614e-12 |
| CB | SRSF9 | exon_skip_230432 | 4.080518e-01 | 9.347008e-08 |
| CB | NUP42 | exon_skip_14081 | 5.558205e-01 | 4.147654e-14 |
| CB | SRSF9 | exon_skip_14081 | 4.222553e-01 | 3.621273e-08 |
| FL | SRSF2 | exon_skip_20274 | 4.062078e-01 | 1.302584e-07 |
| FL | SRSF9 | exon_skip_20274 | 4.246773e-01 | 2.967600e-08 |
| HCC | PCBP4 | exon_skip_153748 | 5.260508e-01 | 7.856326e-21 |
| HCC | DAZAP1 | exon_skip_20274 | -6.019455e-01 | 2.659044e-28 |
| HCC | SRSF11 | exon_skip_20274 | -5.492983e-01 | 6.411006e-23 |
| STG | SRSF2 | exon_skip_20274 | 4.390506e-01 | 8.131376e-05 |
| STG | SRSF11 | exon_skip_20274 | 4.148060e-01 | 2.154595e-04 |
| STG | NUP42 | exon_skip_20274 | 4.616470e-01 | 3.061285e-05 |
| STG | SRSF9 | exon_skip_20274 | 5.068016e-01 | 3.490400e-06 |
| TC | PCBP4 | exon_skip_108393 | 5.069624e-01 | 7.889282e-12 |
| TC | SRSF2 | exon_skip_230432 | 5.028550e-01 | 1.234272e-11 |
| TC | MBNL1 | exon_skip_230432 | 4.167258e-01 | 4.222009e-08 |
| TC | MATR3 | exon_skip_230432 | 7.567856e-01 | 5.583219e-31 |
| TC | ILF2 | exon_skip_230432 | 5.413015e-01 | 1.465345e-13 |
| TC | RBM24 | exon_skip_230432 | 8.220793e-01 | 1.731486e-40 |
| TC | PUM1 | exon_skip_230432 | 6.903993e-01 | 5.551413e-24 |
| TC | NUP42 | exon_skip_230432 | 7.484436e-01 | 5.563309e-30 |
| TC | RALYL | exon_skip_230432 | 9.201209e-01 | 3.256521e-66 |
| TC | EIF4G2 | exon_skip_230432 | 4.017276e-01 | 1.400601e-07 |
| TC | CELF1 | exon_skip_230432 | 6.217960e-01 | 1.714505e-18 |
| TC | CPEB1 | exon_skip_230432 | 5.706784e-01 | 3.317515e-15 |
| TC | EWSR1 | exon_skip_230432 | 4.307283e-01 | 1.305519e-08 |
| TC | SRSF9 | exon_skip_230432 | 4.161139e-01 | 4.438843e-08 |
| TC | SRSF5 | exon_skip_230432 | 4.191331e-01 | 3.463614e-08 |
| TC | HNRNPH2 | exon_skip_230432 | 7.380820e-01 | 8.554548e-29 |
| TC | YBX2 | exon_skip_230432 | 5.349211e-01 | 3.180596e-13 |
| TC | ESRP1 | exon_skip_230432 | 6.602278e-01 | 2.167074e-21 |
| TC | NOVA1 | exon_skip_230432 | 6.635336e-01 | 1.165650e-21 |
| TC | NUP42 | exon_skip_14081 | 6.409519e-01 | 6.933021e-20 |
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RelatedDrugs for TPD52L2 |
| 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 TPD52L2 |
| 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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