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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 PUSL1 |
 Gene summary |
| Gene information | Gene symbol | PUSL1 | Gene ID | 126789 |
| Gene name | pseudouridylate synthase like 1 | |
| Synonyms | - | |
| Cytomap | 1p36.33 | |
| Type of gene | protein-coding | |
| Description | tRNA pseudouridine synthase-like 1tRNA pseudouridylate synthase-like 1tRNA-uridine isomerase-like 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N0Z8 | |
| Context | PubMed: PUSL1 [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 PUSL1 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 PUSL1 |
| 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 PUSL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_182 | 1 | 1244833:1244983:1245060:1245231:1246013:1246068 | 1245060:1245231 | ENSG00000169972.7 | ENST00000467712.1,ENST00000379031.5 |
| exon_skip_183 | 1 | 1244833:1244983:1245085:1245231:1246013:1246068 | 1245085:1245231 | ENSG00000169972.7 | ENST00000470520.1 |
| exon_skip_192 | 1 | 1246013:1246068:1246288:1246451:1246709:1247056 | 1246288:1246451 | ENSG00000169972.7 | ENST00000379031.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PUSL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_182 | 1 | 1244833:1244983:1245060:1245231:1246013:1246068 | 1245060:1245231 | ENSG00000169972.7 | ENST00000379031.5,ENST00000467712.1 |
| exon_skip_183 | 1 | 1244833:1244983:1245085:1245231:1246013:1246068 | 1245085:1245231 | ENSG00000169972.7 | ENST00000470520.1 |
| exon_skip_192 | 1 | 1246013:1246068:1246288:1246451:1246709:1247056 | 1246288:1246451 | ENSG00000169972.7 | ENST00000379031.5 |
| 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 PUSL1 |
| 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 |
| ENST00000379031 | 1246288 | 1246451 | Frame-shift |
| ENST00000379031 | 1245060 | 1245231 | In-frame |
| 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 |
| ENST00000379031 | 1246288 | 1246451 | Frame-shift |
| ENST00000379031 | 1245060 | 1245231 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PUSL1 |
| 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 |
| ENST00000379031 | 1304 | 303 | 1245060 | 1245231 | 551 | 721 | 158 | 214 |
| 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 |
| ENST00000379031 | 1304 | 303 | 1245060 | 1245231 | 551 | 721 | 158 | 214 |
| 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 |
| Q8N0Z8 | 158 | 214 | 1 | 161 | Alternative sequence | ID=VSP_036048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N0Z8 | 158 | 214 | 1 | 303 | Chain | ID=PRO_0000057522;Note=tRNA pseudouridine synthase-like 1 |
| Q8N0Z8 | 158 | 214 | 197 | 197 | Natural variant | ID=VAR_051869;Note=R->W;Dbxref=dbSNP:rs34738574 |
| 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 |
| Q8N0Z8 | 158 | 214 | 1 | 161 | Alternative sequence | ID=VSP_036048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N0Z8 | 158 | 214 | 1 | 303 | Chain | ID=PRO_0000057522;Note=tRNA pseudouridine synthase-like 1 |
| Q8N0Z8 | 158 | 214 | 197 | 197 | Natural variant | ID=VAR_051869;Note=R->W;Dbxref=dbSNP:rs34738574 |
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SNVs in the skipped exons for PUSL1 |
| - 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 |
| THCA | TCGA-E8-A417-01 | exon_skip_183 exon_skip_182 | 1245061 | 1245231 | 1245216 | 1245216 | Frame_Shift_Del | C | - | p.T210fs |
| THCA | TCGA-E8-A417-01 | exon_skip_183 exon_skip_182 | 1245086 | 1245231 | 1245216 | 1245216 | Frame_Shift_Del | C | - | p.T210fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_192 | 1246289 | 1246451 | 1246327 | 1246327 | Frame_Shift_Del | G | - | p.L246fs |
| KIRC | TCGA-B0-4710-01 | exon_skip_192 | 1246289 | 1246451 | 1246311 | 1246312 | Frame_Shift_Ins | - | G | p.L241fs |
| - 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 |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1245086 | 1245231 | 1245116 | 1245116 | Missense_Mutation | G | A | p.D177N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1245061 | 1245231 | 1245116 | 1245116 | Missense_Mutation | G | A | p.D177N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1245086 | 1245231 | 1245185 | 1245185 | Missense_Mutation | G | A | p.V200I |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1245061 | 1245231 | 1245185 | 1245185 | Missense_Mutation | G | A | p.V200I |
| HEC6_ENDOMETRIUM | 1246289 | 1246451 | 1246344 | 1246344 | Missense_Mutation | C | T | p.A252V |
| SNU478_BILIARY_TRACT | 1246289 | 1246451 | 1246373 | 1246373 | Missense_Mutation | G | C | p.D262H |
| RL952_ENDOMETRIUM | 1246289 | 1246451 | 1246398 | 1246398 | Missense_Mutation | G | A | p.R270H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1245086 | 1245231 | 1245164 | 1245164 | Nonsense_Mutation | C | T | p.R193* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1245061 | 1245231 | 1245164 | 1245164 | Nonsense_Mutation | C | T | p.R193* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PUSL1 |
| 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 PUSL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PUSL1 |
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RelatedDrugs for PUSL1 |
| 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 PUSL1 |
| 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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