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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 DENND5A |
 Gene summary |
| Gene information | Gene symbol | DENND5A | Gene ID | 23258 |
| Gene name | DENN domain containing 5A | |
| Synonyms | EIEE49|RAB6IP1 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | DENN domain-containing protein 5ADENN/MADD domain containing 5ARAB6 interacting protein 1rab6-interacting protein 1 | |
| Modification date | 20180522 | |
| UniProtAcc | Q6IQ26 | |
| Context | PubMed: DENND5A [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 DENND5A 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 DENND5A |
| 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 DENND5A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69008 | 11 | 9161235:9161401:9161735:9161795:9163486:9163649 | 9161735:9161795 | ENSG00000184014.3 | ENST00000533737.1 |
| exon_skip_69014 | 11 | 9163520:9163655:9164268:9164392:9164949:9164999 | 9164268:9164392 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000531747.1,ENST00000530044.1,ENST00000533737.1 |
| exon_skip_69015 | 11 | 9163520:9163655:9164268:9164392:9165643:9165726 | 9164268:9164392 | ENSG00000184014.3 | ENST00000528725.1 |
| exon_skip_69019 | 11 | 9163520:9163655:9164268:9165032:9165643:9165726 | 9164268:9165032 | ENSG00000184014.3 | ENST00000529977.1 |
| exon_skip_69023 | 11 | 9164268:9164392:9164949:9165032:9165643:9165726 | 9164949:9165032 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000531747.1,ENST00000530044.1 |
| exon_skip_69026 | 11 | 9166608:9166660:9167216:9167362:9168576:9168698 | 9167216:9167362 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000530044.1,ENST00000524446.1 |
| exon_skip_69027 | 11 | 9166608:9166660:9167216:9167362:9171627:9171720 | 9167216:9167362 | ENSG00000184014.3 | ENST00000531747.1 |
| exon_skip_69030 | 11 | 9167259:9167362:9168576:9168698:9171627:9171720 | 9168576:9168698 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000530044.1,ENST00000526707.1,ENST00000524446.1 |
| exon_skip_69032 | 11 | 9171627:9171756:9172226:9172293:9173904:9173954 | 9172226:9172293 | ENSG00000184014.3 | ENST00000524446.1 |
| exon_skip_69033 | 11 | 9171627:9171756:9172226:9172311:9173904:9173954 | 9172226:9172311 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000530044.1 |
| exon_skip_69034 | 11 | 9172226:9172311:9173904:9173989:9182259:9182412 | 9173904:9173989 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000530044.1 |
| exon_skip_69037 | 11 | 9173904:9173989:9182259:9182412:9187382:9187514 | 9182259:9182412 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000530044.1 |
| exon_skip_69039 | 11 | 9182259:9182412:9187382:9187514:9191402:9191496 | 9187382:9187514 | ENSG00000184014.3 | ENST00000328194.3,ENST00000527700.1,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69043 | 11 | 9191469:9191496:9192173:9192324:9199678:9199795 | 9192173:9192324 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69046 | 11 | 9192173:9192324:9198318:9198449:9199678:9199795 | 9198318:9198449 | ENSG00000184014.3 | ENST00000527896.1 |
| exon_skip_69047 | 11 | 9200404:9200620:9202313:9202631:9215040:9215117 | 9202313:9202631 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69050 | 11 | 9202313:9202631:9215040:9215228:9225206:9225864 | 9215040:9215228 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69051 | 11 | 9228219:9228329:9228719:9228755:9229107:9229179 | 9228719:9228755 | ENSG00000184014.3 | ENST00000530780.1 |
| exon_skip_69052 | 11 | 9228219:9228329:9229107:9229179:9286507:9286634 | 9229107:9229179 | ENSG00000184014.3 | ENST00000530044.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DENND5A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69008 | 11 | 9161235:9161401:9161735:9161795:9163486:9163649 | 9161735:9161795 | ENSG00000184014.3 | ENST00000533737.1 |
| exon_skip_69014 | 11 | 9163520:9163655:9164268:9164392:9164949:9164999 | 9164268:9164392 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1,ENST00000533737.1,ENST00000531747.1 |
| exon_skip_69015 | 11 | 9163520:9163655:9164268:9164392:9165643:9165726 | 9164268:9164392 | ENSG00000184014.3 | ENST00000528725.1 |
| exon_skip_69019 | 11 | 9163520:9163655:9164268:9165032:9165643:9165726 | 9164268:9165032 | ENSG00000184014.3 | ENST00000529977.1 |
| exon_skip_69023 | 11 | 9164268:9164392:9164949:9165032:9165643:9165726 | 9164949:9165032 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1,ENST00000531747.1 |
| exon_skip_69026 | 11 | 9166608:9166660:9167216:9167362:9168576:9168698 | 9167216:9167362 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1,ENST00000524446.1 |
| exon_skip_69027 | 11 | 9166608:9166660:9167216:9167362:9171627:9171720 | 9167216:9167362 | ENSG00000184014.3 | ENST00000531747.1 |
| exon_skip_69030 | 11 | 9167259:9167362:9168576:9168698:9171627:9171720 | 9168576:9168698 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1,ENST00000524446.1,ENST00000526707.1 |
| exon_skip_69032 | 11 | 9171627:9171756:9172226:9172293:9173904:9173954 | 9172226:9172293 | ENSG00000184014.3 | ENST00000524446.1 |
| exon_skip_69033 | 11 | 9171627:9171756:9172226:9172311:9173904:9173954 | 9172226:9172311 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1 |
| exon_skip_69034 | 11 | 9172226:9172311:9173904:9173989:9182259:9182412 | 9173904:9173989 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1 |
| exon_skip_69037 | 11 | 9173904:9173989:9182259:9182412:9187382:9187514 | 9182259:9182412 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1 |
| exon_skip_69039 | 11 | 9182259:9182412:9187382:9187514:9191402:9191496 | 9187382:9187514 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000527700.1,ENST00000526707.1 |
| exon_skip_69043 | 11 | 9191469:9191496:9192173:9192324:9199678:9199795 | 9192173:9192324 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69046 | 11 | 9192173:9192324:9198318:9198449:9199678:9199795 | 9198318:9198449 | ENSG00000184014.3 | ENST00000527896.1 |
| exon_skip_69047 | 11 | 9200404:9200620:9202313:9202631:9215040:9215117 | 9202313:9202631 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69050 | 11 | 9202313:9202631:9215040:9215228:9225206:9225864 | 9215040:9215228 | ENSG00000184014.3 | ENST00000328194.3,ENST00000530044.1,ENST00000526707.1 |
| exon_skip_69051 | 11 | 9228219:9228329:9228719:9228755:9229107:9229179 | 9228719:9228755 | ENSG00000184014.3 | ENST00000530780.1 |
| exon_skip_69052 | 11 | 9228219:9228329:9229107:9229179:9286507:9286634 | 9229107:9229179 | ENSG00000184014.3 | ENST00000530044.1 |
| 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 DENND5A |
| 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 |
| ENST00000328194 | 9164268 | 9164392 | Frame-shift |
| ENST00000328194 | 9164949 | 9165032 | Frame-shift |
| ENST00000328194 | 9167216 | 9167362 | Frame-shift |
| ENST00000328194 | 9168576 | 9168698 | Frame-shift |
| ENST00000328194 | 9172226 | 9172311 | Frame-shift |
| ENST00000328194 | 9173904 | 9173989 | Frame-shift |
| ENST00000328194 | 9192173 | 9192324 | Frame-shift |
| ENST00000328194 | 9215040 | 9215228 | Frame-shift |
| ENST00000328194 | 9182259 | 9182412 | In-frame |
| ENST00000328194 | 9187382 | 9187514 | In-frame |
| ENST00000328194 | 9202313 | 9202631 | 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 |
| ENST00000328194 | 9164268 | 9164392 | Frame-shift |
| ENST00000328194 | 9164949 | 9165032 | Frame-shift |
| ENST00000328194 | 9167216 | 9167362 | Frame-shift |
| ENST00000328194 | 9168576 | 9168698 | Frame-shift |
| ENST00000328194 | 9172226 | 9172311 | Frame-shift |
| ENST00000328194 | 9173904 | 9173989 | Frame-shift |
| ENST00000328194 | 9192173 | 9192324 | Frame-shift |
| ENST00000328194 | 9215040 | 9215228 | Frame-shift |
| ENST00000328194 | 9182259 | 9182412 | In-frame |
| ENST00000328194 | 9187382 | 9187514 | In-frame |
| ENST00000328194 | 9202313 | 9202631 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DENND5A |
| 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 |
| ENST00000328194 | 5048 | 1287 | 9202313 | 9202631 | 1459 | 1776 | 379 | 485 |
| ENST00000328194 | 5048 | 1287 | 9187382 | 9187514 | 2473 | 2604 | 717 | 761 |
| ENST00000328194 | 5048 | 1287 | 9182259 | 9182412 | 2605 | 2757 | 761 | 812 |
| 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 |
| ENST00000328194 | 5048 | 1287 | 9202313 | 9202631 | 1459 | 1776 | 379 | 485 |
| ENST00000328194 | 5048 | 1287 | 9187382 | 9187514 | 2473 | 2604 | 717 | 761 |
| ENST00000328194 | 5048 | 1287 | 9182259 | 9182412 | 2605 | 2757 | 761 | 812 |
| 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 |
| Q6IQ26 | 379 | 485 | 1 | 1287 | Chain | ID=PRO_0000097142;Note=DENN domain-containing protein 5A |
| Q6IQ26 | 379 | 485 | 278 | 414 | Domain | Note=cDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q6IQ26 | 379 | 485 | 416 | 598 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q6IQ26 | 717 | 761 | 1 | 1287 | Chain | ID=PRO_0000097142;Note=DENN domain-containing protein 5A |
| Q6IQ26 | 761 | 812 | 1 | 1287 | Chain | ID=PRO_0000097142;Note=DENN domain-containing protein 5A |
| Q6IQ26 | 761 | 812 | 787 | 950 | Domain | Note=RUN 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00178 |
| 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 |
| Q6IQ26 | 379 | 485 | 1 | 1287 | Chain | ID=PRO_0000097142;Note=DENN domain-containing protein 5A |
| Q6IQ26 | 379 | 485 | 278 | 414 | Domain | Note=cDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q6IQ26 | 379 | 485 | 416 | 598 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q6IQ26 | 717 | 761 | 1 | 1287 | Chain | ID=PRO_0000097142;Note=DENN domain-containing protein 5A |
| Q6IQ26 | 761 | 812 | 1 | 1287 | Chain | ID=PRO_0000097142;Note=DENN domain-containing protein 5A |
| Q6IQ26 | 761 | 812 | 787 | 950 | Domain | Note=RUN 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00178 |
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SNVs in the skipped exons for DENND5A |
| - 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. |
DENND5A_LIHC_exon_skip_69019_psi_boxplot.png |
| - 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-G3-A3CJ-01 | exon_skip_69019 | 9164269 | 9165032 | 9165019 | 9165019 | Frame_Shift_Del | C | - | p.G1106fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_69023 | 9164950 | 9165032 | 9165019 | 9165019 | Frame_Shift_Del | C | - | p.G1106fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69027 exon_skip_69026 | 9167217 | 9167362 | 9167317 | 9167317 | Frame_Shift_Del | C | - | p.G968fs |
| STAD | TCGA-CG-4465-01 | exon_skip_69027 exon_skip_69026 | 9167217 | 9167362 | 9167317 | 9167317 | Frame_Shift_Del | C | - | p.G968fs |
| KIRP | TCGA-A4-7996-01 | exon_skip_69034 | 9173905 | 9173989 | 9173965 | 9173965 | Frame_Shift_Del | G | - | p.L821fs |
| KIRP | TCGA-A4-7996-01 | exon_skip_69034 | 9173905 | 9173989 | 9173965 | 9173965 | Frame_Shift_Del | G | - | p.L822fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69037 | 9182260 | 9182412 | 9182322 | 9182322 | Frame_Shift_Del | G | - | p.L792fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_69039 | 9187383 | 9187514 | 9187416 | 9187416 | Frame_Shift_Del | A | - | p.F750fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69043 | 9192174 | 9192324 | 9192267 | 9192267 | Frame_Shift_Del | A | - | p.L656fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_69047 | 9202314 | 9202631 | 9202504 | 9202504 | Frame_Shift_Del | G | - | p.P422fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_69027 exon_skip_69026 | 9167217 | 9167362 | 9167316 | 9167317 | Frame_Shift_Ins | - | C | p.G968fs |
| BLCA | TCGA-KQ-A41P-01 | exon_skip_69027 exon_skip_69026 | 9167217 | 9167362 | 9167252 | 9167252 | Nonsense_Mutation | G | A | p.Q990* |
| SKCM | TCGA-D9-A1JW-06 | exon_skip_69030 | 9168577 | 9168698 | 9168652 | 9168652 | Nonsense_Mutation | C | A | p.E928* |
| SKCM | TCGA-D9-A1JW-06 | exon_skip_69030 | 9168577 | 9168698 | 9168652 | 9168652 | Nonsense_Mutation | C | A | p.E928X |
| UCEC | TCGA-BG-A0M8-01 | exon_skip_69034 | 9173905 | 9173989 | 9173925 | 9173925 | Nonsense_Mutation | G | T | p.S834* |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_69039 | 9187383 | 9187514 | 9187423 | 9187423 | Nonsense_Mutation | C | T | p.W748* |
| SKCM | TCGA-FS-A1Z3-06 | exon_skip_69039 | 9187383 | 9187514 | 9187423 | 9187423 | Nonsense_Mutation | C | T | p.W748X |
| COAD | TCGA-AY-6197-01 | exon_skip_69030 | 9168577 | 9168698 | 9168575 | 9168575 | Splice_Site | A | G | . |
| KIRP | TCGA-5P-A9K3-01 | exon_skip_69039 | 9187383 | 9187514 | 9187516 | 9187517 | Splice_Site | - | AGAA | . |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_69050 | 9215041 | 9215228 | 9215038 | 9215039 | Splice_Site | CA | - | p.E379_splice |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_69050 | 9215041 | 9215228 | 9215039 | 9215040 | Splice_Site | CA | - | e5+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69019 | |
| Skipped exon start: 9164269 | |
| Skipped exon end: 9165032 | |
| Mutation start: 9165019 | |
| Mutation end: 9165019 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G1106fs | |
| Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69023 | |
| Skipped exon start: 9164950 | |
| Skipped exon end: 9165032 | |
| Mutation start: 9165019 | |
| Mutation end: 9165019 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G1106fs | |
| Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69047 | |
| Skipped exon start: 9202314 | |
| Skipped exon end: 9202631 | |
| Mutation start: 9202504 | |
| Mutation end: 9202504 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P422fs | |
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png | |
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| - 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 | 9167217 | 9167362 | 9167317 | 9167317 | Frame_Shift_Del | C | - | p.G968fs |
| CORL88_LUNG | 9164269 | 9164392 | 9164284 | 9164284 | Missense_Mutation | T | C | p.I1166V |
| CORL88_LUNG | 9164269 | 9165032 | 9164284 | 9164284 | Missense_Mutation | T | C | p.I1166V |
| C33A_CERVIX | 9164269 | 9164392 | 9164367 | 9164367 | Missense_Mutation | C | T | p.C1138Y |
| C33A_CERVIX | 9164269 | 9165032 | 9164367 | 9164367 | Missense_Mutation | C | T | p.C1138Y |
| DU145_PROSTATE | 9167217 | 9167362 | 9167242 | 9167242 | Missense_Mutation | C | A | p.R993M |
| KNS62_LUNG | 9167217 | 9167362 | 9167317 | 9167317 | Missense_Mutation | C | T | p.G968D |
| HCC4006_LUNG | 9168577 | 9168698 | 9168580 | 9168580 | Missense_Mutation | T | C | p.I952V |
| SNU1_STOMACH | 9168577 | 9168698 | 9168604 | 9168604 | Missense_Mutation | A | G | p.C944R |
| HEC59_ENDOMETRIUM | 9168577 | 9168698 | 9168669 | 9168669 | Missense_Mutation | C | T | p.R922H |
| C33A_CERVIX | 9173905 | 9173989 | 9173931 | 9173931 | Missense_Mutation | A | G | p.L832P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9173905 | 9173989 | 9173948 | 9173948 | Missense_Mutation | G | T | p.D826E |
| C33A_CERVIX | 9182260 | 9182412 | 9182396 | 9182396 | Missense_Mutation | A | G | p.V767A |
| HEC151_ENDOMETRIUM | 9187383 | 9187514 | 9187390 | 9187390 | Missense_Mutation | C | T | p.R759H |
| JHUEM1_ENDOMETRIUM | 9187383 | 9187514 | 9187475 | 9187475 | Missense_Mutation | G | A | p.R731C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9187383 | 9187514 | 9187492 | 9187492 | Missense_Mutation | G | T | p.T725N |
| SNU175_LARGE_INTESTINE | 9192174 | 9192324 | 9192183 | 9192183 | Missense_Mutation | G | A | p.A683V |
| MCC13_SKIN | 9192174 | 9192324 | 9192220 | 9192220 | Missense_Mutation | G | A | p.P671S |
| SJSA1_BONE | 9192174 | 9192324 | 9192231 | 9192231 | Missense_Mutation | G | A | p.P667L |
| TFK1_BILIARY_TRACT | 9202314 | 9202631 | 9202357 | 9202357 | Missense_Mutation | C | T | p.R471Q |
| SKNDZ_AUTONOMIC_GANGLIA | 9202314 | 9202631 | 9202475 | 9202475 | Missense_Mutation | C | A | p.A432S |
| SNUC2A_LARGE_INTESTINE | 9202314 | 9202631 | 9202520 | 9202520 | Missense_Mutation | C | T | p.A417T |
| SNUC2B_LARGE_INTESTINE | 9202314 | 9202631 | 9202520 | 9202520 | Missense_Mutation | C | T | p.A417T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9202314 | 9202631 | 9202610 | 9202610 | Missense_Mutation | T | C | p.I387V |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9215041 | 9215228 | 9215088 | 9215088 | Missense_Mutation | G | T | p.H364N |
| HUH28_BILIARY_TRACT | 9215041 | 9215228 | 9215187 | 9215187 | Missense_Mutation | G | A | p.L331F |
| SNU410_PANCREAS | 9215041 | 9215228 | 9215218 | 9215218 | Missense_Mutation | T | G | p.R320S |
| GB1_CENTRAL_NERVOUS_SYSTEM | 9215041 | 9215228 | 9215218 | 9215218 | Missense_Mutation | T | G | p.R320S |
| NCCIT_TESTIS | 9215041 | 9215228 | 9215218 | 9215218 | Missense_Mutation | T | G | p.R320S |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 9229108 | 9229179 | 9229150 | 9229150 | Missense_Mutation | C | T | p.A47T |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9164269 | 9164392 | 9164391 | 9164391 | Splice_Site | C | T | p.R1130Q |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9164269 | 9165032 | 9164391 | 9164391 | Splice_Site | C | T | p.R1130Q |
| HCC2998_LARGE_INTESTINE | 9167217 | 9167362 | 9167218 | 9167218 | Splice_Site | T | C | p.E1001G |
| WM35_SKIN | 9173905 | 9173989 | 9173989 | 9173989 | Splice_Site | C | T | p.G813R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DENND5A |
| 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 DENND5A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DENND5A |
Top |
RelatedDrugs for DENND5A |
| 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 DENND5A |
| 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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