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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 CLINT1 |
 Gene summary |
| Gene information | Gene symbol | CLINT1 | Gene ID | 9685 |
| Gene name | clathrin interactor 1 | |
| Synonyms | CLINT|ENTH|EPN4|EPNR | |
| Cytomap | 5q33.3 | |
| Type of gene | protein-coding | |
| Description | clathrin interactor 1clathrin interacting protein localized in the trans-Golgi regionenthoprotinepsin 4epsin-related proteinepsinR | |
| Modification date | 20180522 | |
| UniProtAcc | Q14677 | |
| Context | PubMed: CLINT1 [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 CLINT1 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 CLINT1 |
| 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 CLINT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_445941 | 5 | 157214609:157215000:157216370:157216521:157218710:157218732 | 157216370:157216521 | ENSG00000113282.9 | ENST00000518855.1,ENST00000411809.2 |
| exon_skip_445943 | 5 | 157214609:157215000:157216370:157216575:157218710:157218732 | 157216370:157216575 | ENSG00000113282.9 | ENST00000530742.1,ENST00000523094.1,ENST00000296951.5,ENST00000523908.1 |
| exon_skip_445947 | 5 | 157216370:157216521:157217607:157217659:157218710:157218732 | 157217607:157217659 | ENSG00000113282.9 | ENST00000521047.1 |
| exon_skip_445948 | 5 | 157216370:157216521:157218710:157219003:157221905:157221980 | 157218710:157219003 | ENSG00000113282.9 | ENST00000518855.1,ENST00000411809.2 |
| exon_skip_445951 | 5 | 157216370:157216575:157218710:157219003:157221905:157221980 | 157218710:157219003 | ENSG00000113282.9 | ENST00000530742.1,ENST00000523094.1,ENST00000296951.5,ENST00000523908.1 |
| exon_skip_445952 | 5 | 157218765:157219003:157221905:157221980:157230657:157230720 | 157221905:157221980 | ENSG00000113282.9 | ENST00000530742.1,ENST00000523094.1,ENST00000296951.5,ENST00000530302.1,ENST00000411809.2,ENST00000523908.1 |
| exon_skip_445954 | 5 | 157221905:157221980:157230657:157230727:157232873:157232964 | 157230657:157230727 | ENSG00000113282.9 | ENST00000530742.1,ENST00000523094.1,ENST00000296951.5,ENST00000530302.1,ENST00000411809.2,ENST00000523908.1 |
| exon_skip_445956 | 5 | 157232873:157233120:157236635:157236813:157240070:157240235 | 157236635:157236813 | ENSG00000113282.9 | ENST00000530742.1,ENST00000523094.1,ENST00000296951.5,ENST00000411809.2,ENST00000523908.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CLINT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_445941 | 5 | 157214609:157215000:157216370:157216521:157218710:157218732 | 157216370:157216521 | ENSG00000113282.9 | ENST00000411809.2,ENST00000518855.1 |
| exon_skip_445943 | 5 | 157214609:157215000:157216370:157216575:157218710:157218732 | 157216370:157216575 | ENSG00000113282.9 | ENST00000523094.1,ENST00000530742.1,ENST00000296951.5,ENST00000523908.1 |
| exon_skip_445947 | 5 | 157216370:157216521:157217607:157217659:157218710:157218732 | 157217607:157217659 | ENSG00000113282.9 | ENST00000521047.1 |
| exon_skip_445948 | 5 | 157216370:157216521:157218710:157219003:157221905:157221980 | 157218710:157219003 | ENSG00000113282.9 | ENST00000411809.2,ENST00000518855.1 |
| exon_skip_445951 | 5 | 157216370:157216575:157218710:157219003:157221905:157221980 | 157218710:157219003 | ENSG00000113282.9 | ENST00000523094.1,ENST00000530742.1,ENST00000296951.5,ENST00000523908.1 |
| exon_skip_445952 | 5 | 157218765:157219003:157221905:157221980:157230657:157230720 | 157221905:157221980 | ENSG00000113282.9 | ENST00000523094.1,ENST00000530742.1,ENST00000411809.2,ENST00000296951.5,ENST00000523908.1,ENST00000530302.1 |
| exon_skip_445954 | 5 | 157221905:157221980:157230657:157230727:157232873:157232964 | 157230657:157230727 | ENSG00000113282.9 | ENST00000523094.1,ENST00000530742.1,ENST00000411809.2,ENST00000296951.5,ENST00000523908.1,ENST00000530302.1 |
| exon_skip_445956 | 5 | 157232873:157233120:157236635:157236813:157240070:157240235 | 157236635:157236813 | ENSG00000113282.9 | ENST00000523094.1,ENST00000530742.1,ENST00000411809.2,ENST00000296951.5,ENST00000523908.1 |
| 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 CLINT1 |
| 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 |
| ENST00000411809 | 157216370 | 157216521 | Frame-shift |
| ENST00000411809 | 157218710 | 157219003 | Frame-shift |
| ENST00000411809 | 157230657 | 157230727 | Frame-shift |
| ENST00000411809 | 157236635 | 157236813 | Frame-shift |
| ENST00000411809 | 157221905 | 157221980 | 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 |
| ENST00000411809 | 157216370 | 157216521 | Frame-shift |
| ENST00000411809 | 157218710 | 157219003 | Frame-shift |
| ENST00000411809 | 157230657 | 157230727 | Frame-shift |
| ENST00000411809 | 157236635 | 157236813 | Frame-shift |
| ENST00000411809 | 157221905 | 157221980 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CLINT1 |
| 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 |
| ENST00000411809 | 3457 | 625 | 157221905 | 157221980 | 1218 | 1292 | 337 | 362 |
| 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 |
| ENST00000411809 | 3457 | 625 | 157221905 | 157221980 | 1218 | 1292 | 337 | 362 |
| 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 |
| Q14677 | 337 | 362 | 1 | 625 | Chain | ID=PRO_0000074521;Note=Clathrin interactor 1 |
| Q14677 | 337 | 362 | 311 | 485 | Compositional bias | Note=Ser-rich;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00016 |
| Q14677 | 337 | 362 | 349 | 349 | Mutagenesis | Note=Decreases AP-1 and AP-2 binding. D->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12538641;Dbxref=PMID:12538641 |
| 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 |
| Q14677 | 337 | 362 | 1 | 625 | Chain | ID=PRO_0000074521;Note=Clathrin interactor 1 |
| Q14677 | 337 | 362 | 311 | 485 | Compositional bias | Note=Ser-rich;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00016 |
| Q14677 | 337 | 362 | 349 | 349 | Mutagenesis | Note=Decreases AP-1 and AP-2 binding. D->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12538641;Dbxref=PMID:12538641 |
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SNVs in the skipped exons for CLINT1 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_445941 | 157216371 | 157216521 | 157216407 | 157216407 | Frame_Shift_Del | G | - | p.Q500fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_445943 | 157216371 | 157216575 | 157216407 | 157216407 | Frame_Shift_Del | G | - | p.Q500fs |
| HNSC | TCGA-HD-A634-01 | exon_skip_445941 | 157216371 | 157216521 | 157216481 | 157216485 | Frame_Shift_Del | GGCAA | - | p.LP473fs |
| HNSC | TCGA-HD-A634-01 | exon_skip_445943 | 157216371 | 157216575 | 157216481 | 157216485 | Frame_Shift_Del | GGCAA | - | p.LP473fs |
| ESCA | TCGA-R6-A6XQ-01 | exon_skip_445956 | 157236636 | 157236813 | 157236744 | 157236744 | Frame_Shift_Del | G | - | p.P178fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_445948 exon_skip_445951 | 157218711 | 157219003 | 157218887 | 157218887 | Nonsense_Mutation | C | A | p.E384* |
| HNSC | TCGA-CN-A63U-01 | exon_skip_445948 exon_skip_445951 | 157218711 | 157219003 | 157218920 | 157218920 | Nonsense_Mutation | C | A | p.E373* |
| - 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 |
| NCIH727_LUNG | 157216371 | 157216575 | 157216423 | 157216423 | Missense_Mutation | C | T | p.M493I |
| NCIH727_LUNG | 157216371 | 157216521 | 157216423 | 157216423 | Missense_Mutation | C | T | p.M493I |
| HCT15_LARGE_INTESTINE | 157216371 | 157216575 | 157216481 | 157216481 | Missense_Mutation | G | T | p.P474H |
| HCT15_LARGE_INTESTINE | 157216371 | 157216521 | 157216481 | 157216481 | Missense_Mutation | G | T | p.P474H |
| SW756_CERVIX | 157218711 | 157219003 | 157218718 | 157218718 | Missense_Mutation | C | G | p.R458T |
| NCIH2110_LUNG | 157218711 | 157219003 | 157218755 | 157218755 | Missense_Mutation | T | G | p.S446R |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 157218711 | 157219003 | 157218758 | 157218758 | Missense_Mutation | T | C | p.M445V |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 157218711 | 157219003 | 157218805 | 157218805 | Missense_Mutation | G | A | p.S429L |
| RDES_BONE | 157218711 | 157219003 | 157218881 | 157218881 | Missense_Mutation | C | G | p.V404L |
| CAL39_VULVA | 157218711 | 157219003 | 157218901 | 157218901 | Missense_Mutation | G | A | p.S397L |
| NCIH510_LUNG | 157218711 | 157219003 | 157218989 | 157218989 | Missense_Mutation | C | A | p.G368W |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 157221906 | 157221980 | 157221920 | 157221920 | Missense_Mutation | C | T | p.S358N |
| MEWO_SKIN | 157230658 | 157230727 | 157230669 | 157230669 | Missense_Mutation | C | T | p.S334N |
| IM95_STOMACH | 157230658 | 157230727 | 157230703 | 157230703 | Missense_Mutation | A | G | p.S323P |
| MDAMB361_BREAST | 157236636 | 157236813 | 157236658 | 157236658 | Missense_Mutation | C | T | p.E225K |
| HEC108_ENDOMETRIUM | 157218711 | 157219003 | 157219003 | 157219003 | Splice_Site | A | G | p.V363A |
| JHUEM7_ENDOMETRIUM | 157230658 | 157230727 | 157230727 | 157230727 | Splice_Site | T | C | p.T315A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CLINT1 |
| 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 CLINT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLINT1 |
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RelatedDrugs for CLINT1 |
| 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 CLINT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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