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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 PACSIN3 |
 Gene summary |
| Gene information | Gene symbol | PACSIN3 | Gene ID | 29763 |
| Gene name | protein kinase C and casein kinase substrate in neurons 3 | |
| Synonyms | SDPIII | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | protein kinase C and casein kinase substrate in neurons protein 3SH3 domain-containing protein 6511syndapin III | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UKS6 | |
| Context | PubMed: PACSIN3 [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 |
| PACSIN3 | GO:0097320 | plasma membrane tubulation | 23236520 |
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Exon skipping events across known transcript of Ensembl for PACSIN3 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 PACSIN3 |
| 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 PACSIN3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70749 | 11 | 47199539:47199597:47199916:47200038:47200444:47200578 | 47199916:47200038 | ENSG00000165912.11 | ENST00000539589.1,ENST00000298838.6,ENST00000532457.1,ENST00000528462.1 |
| exon_skip_70751 | 11 | 47199974:47200038:47200444:47200581:47200709:47200776 | 47200444:47200581 | ENSG00000165912.11 | ENST00000539589.1,ENST00000298838.6,ENST00000528462.1 |
| exon_skip_70754 | 11 | 47200444:47200581:47200709:47200830:47200961:47201137 | 47200709:47200830 | ENSG00000165912.11 | ENST00000539589.1,ENST00000298838.6,ENST00000528462.1 |
| exon_skip_70756 | 11 | 47202026:47202241:47203953:47204110:47204224:47204315 | 47203953:47204110 | ENSG00000165912.11 | ENST00000531226.1,ENST00000539589.1,ENST00000298838.6,ENST00000525725.1,ENST00000532457.1,ENST00000528462.1 |
| exon_skip_70759 | 11 | 47203956:47204110:47204224:47204315:47204554:47204616 | 47204224:47204315 | ENSG00000165912.11 | ENST00000524509.1,ENST00000539589.1,ENST00000298838.6,ENST00000530405.1,ENST00000525725.1,ENST00000532457.1,ENST00000528462.1 |
| exon_skip_70761 | 11 | 47203956:47204110:47204224:47204360:47204554:47204616 | 47204224:47204360 | ENSG00000165912.11 | ENST00000531226.1 |
| exon_skip_70762 | 11 | 47203956:47204110:47204554:47204616:47207899:47207958 | 47204554:47204616 | ENSG00000165912.11 | ENST00000528201.1 |
| exon_skip_70763 | 11 | 47203956:47204110:47204554:47204620:47207899:47207958 | 47204554:47204620 | ENSG00000165912.11 | ENST00000530513.1 |
| exon_skip_70767 | 11 | 47204224:47204315:47204554:47204620:47207899:47207958 | 47204554:47204620 | ENSG00000165912.11 | ENST00000532457.1 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENSG00000165912.11 | ENST00000524509.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PACSIN3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70749 | 11 | 47199539:47199597:47199916:47200038:47200444:47200578 | 47199916:47200038 | ENSG00000165912.11 | ENST00000298838.6,ENST00000539589.1,ENST00000532457.1,ENST00000528462.1 |
| exon_skip_70751 | 11 | 47199974:47200038:47200444:47200581:47200709:47200776 | 47200444:47200581 | ENSG00000165912.11 | ENST00000298838.6,ENST00000539589.1,ENST00000528462.1 |
| exon_skip_70754 | 11 | 47200444:47200581:47200709:47200830:47200961:47201137 | 47200709:47200830 | ENSG00000165912.11 | ENST00000298838.6,ENST00000539589.1,ENST00000528462.1 |
| exon_skip_70756 | 11 | 47202026:47202241:47203953:47204110:47204224:47204315 | 47203953:47204110 | ENSG00000165912.11 | ENST00000298838.6,ENST00000539589.1,ENST00000532457.1,ENST00000528462.1,ENST00000531226.1,ENST00000525725.1 |
| exon_skip_70759 | 11 | 47203956:47204110:47204224:47204315:47204554:47204616 | 47204224:47204315 | ENSG00000165912.11 | ENST00000298838.6,ENST00000539589.1,ENST00000532457.1,ENST00000528462.1,ENST00000525725.1,ENST00000530405.1,ENST00000524509.1 |
| exon_skip_70761 | 11 | 47203956:47204110:47204224:47204360:47204554:47204616 | 47204224:47204360 | ENSG00000165912.11 | ENST00000531226.1 |
| exon_skip_70762 | 11 | 47203956:47204110:47204554:47204616:47207899:47207958 | 47204554:47204616 | ENSG00000165912.11 | ENST00000528201.1 |
| exon_skip_70763 | 11 | 47203956:47204110:47204554:47204620:47207899:47207958 | 47204554:47204620 | ENSG00000165912.11 | ENST00000530513.1 |
| exon_skip_70767 | 11 | 47204224:47204315:47204554:47204620:47207899:47207958 | 47204554:47204620 | ENSG00000165912.11 | ENST00000532457.1 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENSG00000165912.11 | ENST00000524509.1 |
| 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 PACSIN3 |
| 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 |
| ENST00000298838 | 47204224 | 47204315 | 3UTR-3CDS |
| ENST00000539589 | 47204224 | 47204315 | 3UTR-3CDS |
| ENST00000298838 | 47199916 | 47200038 | Frame-shift |
| ENST00000539589 | 47199916 | 47200038 | Frame-shift |
| ENST00000298838 | 47200444 | 47200581 | Frame-shift |
| ENST00000539589 | 47200444 | 47200581 | Frame-shift |
| ENST00000298838 | 47200709 | 47200830 | Frame-shift |
| ENST00000539589 | 47200709 | 47200830 | Frame-shift |
| ENST00000298838 | 47203953 | 47204110 | Frame-shift |
| ENST00000539589 | 47203953 | 47204110 | 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 |
| ENST00000298838 | 47204224 | 47204315 | 3UTR-3CDS |
| ENST00000539589 | 47204224 | 47204315 | 3UTR-3CDS |
| ENST00000298838 | 47199916 | 47200038 | Frame-shift |
| ENST00000539589 | 47199916 | 47200038 | Frame-shift |
| ENST00000298838 | 47200444 | 47200581 | Frame-shift |
| ENST00000539589 | 47200444 | 47200581 | Frame-shift |
| ENST00000298838 | 47200709 | 47200830 | Frame-shift |
| ENST00000539589 | 47200709 | 47200830 | Frame-shift |
| ENST00000298838 | 47203953 | 47204110 | Frame-shift |
| ENST00000539589 | 47203953 | 47204110 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PACSIN3 |
| 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 PACSIN3 |
| - 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 |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_70751 | 47200445 | 47200581 | 47200457 | 47200457 | Frame_Shift_Del | G | - | p.P342fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_70759 | 47204225 | 47204315 | 47204238 | 47204238 | Frame_Shift_Del | C | - | p.G14fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_70761 | 47204225 | 47204360 | 47204238 | 47204238 | Frame_Shift_Del | C | - | p.G14fs |
| SARC | TCGA-DX-A8BG-01 | exon_skip_70749 | 47199917 | 47200038 | 47199923 | 47199923 | Nonsense_Mutation | G | A | p.R385* |
| - 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 |
| COLO824_BREAST | 47200445 | 47200581 | 47200457 | 47200457 | Missense_Mutation | G | A | p.P342L |
| SNU175_LARGE_INTESTINE | 47200445 | 47200581 | 47200547 | 47200547 | Missense_Mutation | C | T | p.R312Q |
| HUPT4_PANCREAS | 47200710 | 47200830 | 47200765 | 47200765 | Missense_Mutation | C | T | p.R282H |
| NCIH716_LARGE_INTESTINE | 47200710 | 47200830 | 47200779 | 47200779 | Missense_Mutation | G | C | p.D277E |
| H3118_UPPER_AERODIGESTIVE_TRACT | 47200710 | 47200830 | 47200790 | 47200790 | Missense_Mutation | C | A | p.A274S |
| 639V_URINARY_TRACT | 47203954 | 47204110 | 47203963 | 47203963 | Missense_Mutation | C | T | p.V68M |
| TE4_OESOPHAGUS | 47203954 | 47204110 | 47203963 | 47203963 | Missense_Mutation | C | T | p.V68M |
| NCIH446_LUNG | 47203954 | 47204110 | 47204083 | 47204083 | Missense_Mutation | G | C | p.R28G |
| MS1_SKIN | 47203954 | 47204110 | 47204092 | 47204092 | Missense_Mutation | T | G | p.T25P |
| MS1_LUNG | 47203954 | 47204110 | 47204092 | 47204092 | Missense_Mutation | T | G | p.T25P |
| NCIH1155_LUNG | 47203954 | 47204110 | 47204097 | 47204097 | Missense_Mutation | C | T | p.R23K |
| NUGC2_STOMACH | 47203954 | 47204110 | 47204102 | 47204102 | Missense_Mutation | G | T | p.N21K |
| T47D_BREAST | 47204225 | 47204360 | 47204275 | 47204275 | Missense_Mutation | C | T | p.A2T |
| T47D_BREAST | 47204225 | 47204315 | 47204275 | 47204275 | Missense_Mutation | C | T | p.A2T |
| RERFLCFM_LUNG | 47200710 | 47200830 | 47200823 | 47200823 | Nonsense_Mutation | C | A | p.E263* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PACSIN3 |
| 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 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | ESCA | rs140269538 | chr11:47205905 | CCT/C | 5.08e-04 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | LGG | rs140269538 | chr11:47205905 | CCT/C | 6.05e-04 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | LUAD | rs140269538 | chr11:47205905 | CCT/C | 1.07e-05 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | LUAD | rs140269538 | chr11:47205905 | CCT/C | 6.31e-05 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | LUSC | rs140269538 | chr11:47205905 | CCT/C | 8.28e-05 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | LUSC | rs140269538 | chr11:47205905 | CCT/C | 1.32e-03 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | STAD | rs140269538 | chr11:47205905 | CCT/C | 7.98e-05 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | STAD | rs140269538 | chr11:47205905 | CCT/C | 1.62e-03 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | THCA | rs140269538 | chr11:47205905 | CCT/C | 2.55e-03 |
| exon_skip_70778 | 11 | 47204554:47204620:47205870:47206048:47207899:47207958 | 47205870:47206048 | ENST00000524509.1 | THCA | rs140269538 | chr11:47205905 | CCT/C | 3.06e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PACSIN3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PACSIN3 |
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RelatedDrugs for PACSIN3 |
| 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 PACSIN3 |
| 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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