|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for OCLN |
 Gene summary |
| Gene information | Gene symbol | OCLN | Gene ID | 100506658 |
| Gene name | occludin | |
| Synonyms | BLCPMG|PPP1R115|PTORCH1 | |
| Cytomap | 5q13.2 | |
| Type of gene | protein-coding | |
| Description | occludinphosphatase 1, regulatory subunit 115tight junction protein occludin | |
| Modification date | 20180519 | |
| UniProtAcc | Q16625 | |
| Context | PubMed: OCLN [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 |
Top |
Exon skipping events across known transcript of Ensembl for OCLN 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. |
 |
Top |
Gene isoform structures and expression levels for OCLN |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for OCLN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435325 | 5 | 68800027:68800121:68804967:68805646:68809774:68809936 | 68804967:68805646 | ENSG00000197822.6 | ENST00000396442.2,ENST00000355237.2 |
| exon_skip_435326 | 5 | 68800027:68800121:68804967:68805646:68830520:68830666 | 68804967:68805646 | ENSG00000197822.6 | ENST00000380766.2 |
| exon_skip_435327 | 5 | 68800027:68800121:68809774:68809936:68830520:68830666 | 68809774:68809936 | ENSG00000197822.6 | ENST00000538151.1 |
| exon_skip_435330 | 5 | 68804967:68805646:68809774:68809936:68830520:68830666 | 68809774:68809936 | ENSG00000197822.6 | ENST00000396442.2,ENST00000355237.2 |
| exon_skip_435333 | 5 | 68809774:68809936:68830520:68830666:68840730:68840946 | 68830520:68830666 | ENSG00000197822.6 | ENST00000396442.2,ENST00000355237.2,ENST00000538151.1 |
| exon_skip_435334 | 5 | 68830520:68830666:68840730:68840946:68843756:68843928 | 68840730:68840946 | ENSG00000197822.6 | ENST00000396442.2,ENST00000380766.2,ENST00000355237.2,ENST00000542132.1,ENST00000538151.1 |
| exon_skip_435336 | 5 | 68843756:68843928:68847370:68847412:68849396:68849498 | 68847370:68847412 | ENSG00000197822.6 | ENST00000514370.1,ENST00000396442.2,ENST00000380766.2,ENST00000355237.2,ENST00000510666.1,ENST00000542132.1,ENST00000538151.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for OCLN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435325 | 5 | 68800027:68800121:68804967:68805646:68809774:68809936 | 68804967:68805646 | ENSG00000197822.6 | ENST00000355237.2,ENST00000396442.2 |
| exon_skip_435326 | 5 | 68800027:68800121:68804967:68805646:68830520:68830666 | 68804967:68805646 | ENSG00000197822.6 | ENST00000380766.2 |
| exon_skip_435327 | 5 | 68800027:68800121:68809774:68809936:68830520:68830666 | 68809774:68809936 | ENSG00000197822.6 | ENST00000538151.1 |
| exon_skip_435330 | 5 | 68804967:68805646:68809774:68809936:68830520:68830666 | 68809774:68809936 | ENSG00000197822.6 | ENST00000355237.2,ENST00000396442.2 |
| exon_skip_435333 | 5 | 68809774:68809936:68830520:68830666:68840730:68840946 | 68830520:68830666 | ENSG00000197822.6 | ENST00000355237.2,ENST00000396442.2,ENST00000538151.1 |
| exon_skip_435334 | 5 | 68830520:68830666:68840730:68840946:68843756:68843928 | 68840730:68840946 | ENSG00000197822.6 | ENST00000355237.2,ENST00000396442.2,ENST00000380766.2,ENST00000538151.1,ENST00000542132.1 |
| exon_skip_435336 | 5 | 68843756:68843928:68847370:68847412:68849396:68849498 | 68847370:68847412 | ENSG00000197822.6 | ENST00000355237.2,ENST00000396442.2,ENST00000380766.2,ENST00000538151.1,ENST00000542132.1,ENST00000514370.1,ENST00000510666.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for OCLN |
| 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 |
| ENST00000355237 | 68804967 | 68805646 | Frame-shift |
| ENST00000396442 | 68804967 | 68805646 | Frame-shift |
| ENST00000355237 | 68830520 | 68830666 | Frame-shift |
| ENST00000396442 | 68830520 | 68830666 | Frame-shift |
| ENST00000355237 | 68809774 | 68809936 | In-frame |
| ENST00000396442 | 68809774 | 68809936 | In-frame |
| ENST00000355237 | 68840730 | 68840946 | In-frame |
| ENST00000396442 | 68840730 | 68840946 | In-frame |
| ENST00000355237 | 68847370 | 68847412 | In-frame |
| ENST00000396442 | 68847370 | 68847412 | 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 |
| ENST00000355237 | 68804967 | 68805646 | Frame-shift |
| ENST00000396442 | 68804967 | 68805646 | Frame-shift |
| ENST00000355237 | 68830520 | 68830666 | Frame-shift |
| ENST00000396442 | 68830520 | 68830666 | Frame-shift |
| ENST00000355237 | 68809774 | 68809936 | In-frame |
| ENST00000396442 | 68809774 | 68809936 | In-frame |
| ENST00000355237 | 68840730 | 68840946 | In-frame |
| ENST00000396442 | 68840730 | 68840946 | In-frame |
| ENST00000355237 | 68847370 | 68847412 | In-frame |
| ENST00000396442 | 68847370 | 68847412 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for OCLN |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000355237 | 6455 | 522 | 68809774 | 68809936 | 1166 | 1327 | 243 | 297 |
| ENST00000396442 | 1765 | 522 | 68809774 | 68809936 | 909 | 1070 | 243 | 297 |
| ENST00000355237 | 6455 | 522 | 68840730 | 68840946 | 1474 | 1689 | 346 | 417 |
| ENST00000396442 | 1765 | 522 | 68840730 | 68840946 | 1217 | 1432 | 346 | 417 |
| ENST00000355237 | 6455 | 522 | 68847370 | 68847412 | 1862 | 1903 | 475 | 489 |
| ENST00000396442 | 1765 | 522 | 68847370 | 68847412 | 1605 | 1646 | 475 | 489 |
| 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 |
| ENST00000355237 | 6455 | 522 | 68809774 | 68809936 | 1166 | 1327 | 243 | 297 |
| ENST00000396442 | 1765 | 522 | 68809774 | 68809936 | 909 | 1070 | 243 | 297 |
| ENST00000355237 | 6455 | 522 | 68840730 | 68840946 | 1474 | 1689 | 346 | 417 |
| ENST00000396442 | 1765 | 522 | 68840730 | 68840946 | 1217 | 1432 | 346 | 417 |
| ENST00000355237 | 6455 | 522 | 68847370 | 68847412 | 1862 | 1903 | 475 | 489 |
| ENST00000396442 | 1765 | 522 | 68847370 | 68847412 | 1605 | 1646 | 475 | 489 |
| 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 |
Top |
SNVs in the skipped exons for OCLN |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-A1EG-01 | exon_skip_435325 exon_skip_435326 | 68804968 | 68805646 | 68805549 | 68805549 | Frame_Shift_Del | A | - | p.Q211fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_435327 exon_skip_435330 | 68809775 | 68809936 | 68809916 | 68809916 | Frame_Shift_Del | C | - | p.P292fs |
| KICH | TCGA-KO-8404-01 | exon_skip_435334 | 68840731 | 68840946 | 68840857 | 68840857 | Frame_Shift_Del | A | - | p.G388fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_435333 | 68830521 | 68830666 | 68830523 | 68830524 | Frame_Shift_Ins | - | A | p.VK298fs |
| SKCM | TCGA-D3-A51G-06 | exon_skip_435327 exon_skip_435330 | 68809775 | 68809936 | 68809847 | 68809847 | Nonsense_Mutation | C | T | p.R17X |
| SKCM | TCGA-D3-A51G-06 | exon_skip_435327 exon_skip_435330 | 68809775 | 68809936 | 68809847 | 68809847 | Nonsense_Mutation | C | T | p.R268* |
| - 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 |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68804968 | 68805646 | 68805397 | 68805398 | Frame_Shift_Ins | - | A | p.I161fs |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68804968 | 68805646 | 68804973 | 68804973 | Missense_Mutation | C | T | p.P19L |
| NCIH810_LUNG | 68804968 | 68805646 | 68805221 | 68805221 | Missense_Mutation | G | T | p.V102L |
| RERFLCAD2_LUNG | 68804968 | 68805646 | 68805258 | 68805258 | Missense_Mutation | A | T | p.Y114F |
| CW2_LARGE_INTESTINE | 68804968 | 68805646 | 68805431 | 68805431 | Missense_Mutation | T | C | p.Y172H |
| MEWO_SKIN | 68804968 | 68805646 | 68805531 | 68805531 | Missense_Mutation | G | A | p.G205E |
| KYSE150_OESOPHAGUS | 68804968 | 68805646 | 68805569 | 68805569 | Missense_Mutation | C | G | p.Q218E |
| SNU81_LARGE_INTESTINE | 68804968 | 68805646 | 68805570 | 68805570 | Missense_Mutation | A | G | p.Q218R |
| NCIH322_LUNG | 68804968 | 68805646 | 68805602 | 68805602 | Missense_Mutation | G | T | p.V229L |
| H3118_UPPER_AERODIGESTIVE_TRACT | 68809775 | 68809936 | 68809831 | 68809831 | Missense_Mutation | C | G | p.F262L |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68809775 | 68809936 | 68809868 | 68809868 | Missense_Mutation | G | C | p.D275H |
| 59M_OVARY | 68830521 | 68830666 | 68830597 | 68830597 | Missense_Mutation | T | C | p.M323T |
| HMCB_SKIN | 68840731 | 68840946 | 68840786 | 68840786 | Missense_Mutation | C | A | p.Q365K |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68840731 | 68840946 | 68840856 | 68840856 | Missense_Mutation | G | A | p.G388E |
| RL952_ENDOMETRIUM | 68840731 | 68840946 | 68840894 | 68840894 | Missense_Mutation | G | A | p.D401N |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 68840731 | 68840946 | 68840898 | 68840898 | Missense_Mutation | A | G | p.Y402C |
| SNU1040_LARGE_INTESTINE | 68840731 | 68840946 | 68840898 | 68840898 | Missense_Mutation | A | G | p.Y402C |
| HEC251_ENDOMETRIUM | 68840731 | 68840946 | 68840912 | 68840912 | Missense_Mutation | G | A | p.E407K |
| HEC1A_ENDOMETRIUM | 68840731 | 68840946 | 68840912 | 68840912 | Missense_Mutation | G | A | p.E407K |
| HEC1_ENDOMETRIUM | 68840731 | 68840946 | 68840912 | 68840912 | Missense_Mutation | G | A | p.E407K |
| HEC1B_ENDOMETRIUM | 68840731 | 68840946 | 68840912 | 68840912 | Missense_Mutation | G | A | p.E407K |
| NCIH358_LUNG | 68809775 | 68809936 | 68809935 | 68809935 | Splice_Site | G | T | p.W297L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OCLN |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OCLN |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OCLN |
Top |
RelatedDrugs for OCLN |
| 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 |
Top |
RelatedDiseases for OCLN |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| OCLN | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| OCLN | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| OCLN | C0019156 | Hepatic Veno-Occlusive Disease | 1 | CTD_human |
| OCLN | C0035309 | Retinal Diseases | 1 | CTD_human |
| OCLN | C0038002 | Splenomegaly | 1 | CTD_human |
| OCLN | C2609414 | Acute kidney injury | 1 | CTD_human |
| OCLN | C3489725 | Pseudo-TORCH syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|