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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 CCDC93 |
 Gene summary |
| Gene information | Gene symbol | CCDC93 | Gene ID | 54520 |
| Gene name | coiled-coil domain containing 93 | |
| Synonyms | - | |
| Cytomap | 2q14.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 93 | |
| Modification date | 20180523 | |
| UniProtAcc | Q567U6 | |
| Context | PubMed: CCDC93 [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 CCDC93 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 CCDC93 |
| 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 CCDC93 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_342858 | 2 | 118677880:118677972:118688612:118688726:118693070:118693155 | 118688612:118688726 | ENSG00000125633.6 | ENST00000319432.5,ENST00000437999.1,ENST00000376300.2 |
| exon_skip_342860 | 2 | 118698764:118698873:118701599:118701662:118703104:118703158 | 118701599:118701662 | ENSG00000125633.6 | ENST00000319432.5,ENST00000376300.2 |
| exon_skip_342861 | 2 | 118701599:118701662:118702308:118702373:118703104:118703158 | 118702308:118702373 | ENSG00000125633.6 | ENST00000437999.1 |
| exon_skip_342866 | 2 | 118715940:118716057:118731483:118731570:118732425:118732473 | 118731483:118731570 | ENSG00000125633.6 | ENST00000319432.5,ENST00000376300.2 |
| exon_skip_342868 | 2 | 118732763:118732856:118735569:118735606:118743544:118743645 | 118735569:118735606 | ENSG00000125633.6 | ENST00000460781.1,ENST00000376300.2 |
| exon_skip_342871 | 2 | 118735569:118735606:118743544:118743645:118753021:118753078 | 118743544:118743645 | ENSG00000125633.6 | ENST00000460781.1,ENST00000376300.2 |
| exon_skip_342873 | 2 | 118753839:118753938:118758396:118758508:118764297:118764392 | 118758396:118758508 | ENSG00000125633.6 | ENST00000319432.5,ENST00000376300.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC93 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_342858 | 2 | 118677880:118677972:118688612:118688726:118693070:118693155 | 118688612:118688726 | ENSG00000125633.6 | ENST00000376300.2,ENST00000319432.5,ENST00000437999.1 |
| exon_skip_342860 | 2 | 118698764:118698873:118701599:118701662:118703104:118703158 | 118701599:118701662 | ENSG00000125633.6 | ENST00000376300.2,ENST00000319432.5 |
| exon_skip_342861 | 2 | 118701599:118701662:118702308:118702373:118703104:118703158 | 118702308:118702373 | ENSG00000125633.6 | ENST00000437999.1 |
| exon_skip_342866 | 2 | 118715940:118716057:118731483:118731570:118732425:118732473 | 118731483:118731570 | ENSG00000125633.6 | ENST00000376300.2,ENST00000319432.5 |
| exon_skip_342867 | 2 | 118732763:118732856:118735569:118735603:118743544:118743645 | 118735569:118735603 | ENSG00000125633.6 | ENST00000319432.5 |
| exon_skip_342868 | 2 | 118732763:118732856:118735569:118735606:118743544:118743645 | 118735569:118735606 | ENSG00000125633.6 | ENST00000376300.2,ENST00000460781.1 |
| exon_skip_342871 | 2 | 118735569:118735606:118743544:118743645:118753021:118753078 | 118743544:118743645 | ENSG00000125633.6 | ENST00000376300.2,ENST00000460781.1 |
| exon_skip_342873 | 2 | 118753839:118753938:118758396:118758508:118764297:118764392 | 118758396:118758508 | ENSG00000125633.6 | ENST00000376300.2,ENST00000319432.5 |
| 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 CCDC93 |
| 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 |
| ENST00000376300 | 118735569 | 118735606 | Frame-shift |
| ENST00000376300 | 118743544 | 118743645 | Frame-shift |
| ENST00000376300 | 118758396 | 118758508 | Frame-shift |
| ENST00000376300 | 118688612 | 118688726 | In-frame |
| ENST00000376300 | 118701599 | 118701662 | In-frame |
| ENST00000376300 | 118731483 | 118731570 | 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 |
| ENST00000376300 | 118735569 | 118735606 | Frame-shift |
| ENST00000376300 | 118743544 | 118743645 | Frame-shift |
| ENST00000376300 | 118758396 | 118758508 | Frame-shift |
| ENST00000376300 | 118688612 | 118688726 | In-frame |
| ENST00000376300 | 118701599 | 118701662 | In-frame |
| ENST00000376300 | 118731483 | 118731570 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC93 |
| 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 |
| ENST00000376300 | 6916 | 631 | 118731483 | 118731570 | 940 | 1026 | 267 | 296 |
| ENST00000376300 | 6916 | 631 | 118701599 | 118701662 | 1489 | 1551 | 450 | 471 |
| ENST00000376300 | 6916 | 631 | 118688612 | 118688726 | 1867 | 1980 | 576 | 614 |
| 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 |
| ENST00000376300 | 6916 | 631 | 118731483 | 118731570 | 940 | 1026 | 267 | 296 |
| ENST00000376300 | 6916 | 631 | 118701599 | 118701662 | 1489 | 1551 | 450 | 471 |
| ENST00000376300 | 6916 | 631 | 118688612 | 118688726 | 1867 | 1980 | 576 | 614 |
| 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 |
| Q567U6 | 267 | 296 | 1 | 631 | Chain | ID=PRO_0000234604;Note=Coiled-coil domain-containing protein 93 |
| Q567U6 | 267 | 296 | 231 | 428 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q567U6 | 267 | 296 | 1 | 430 | Region | Note=Sufficient for interaction with CCDC22;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25355947;Dbxref=PMID:25355947 |
| Q567U6 | 450 | 471 | 1 | 631 | Chain | ID=PRO_0000234604;Note=Coiled-coil domain-containing protein 93 |
| Q567U6 | 450 | 471 | 465 | 465 | Natural variant | ID=VAR_054111;Note=Y->H;Dbxref=dbSNP:rs17047557 |
| Q567U6 | 450 | 471 | 448 | 631 | Region | Note=Sufficient for interaction with WASHC2C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25355947;Dbxref=PMID:25355947 |
| Q567U6 | 576 | 614 | 1 | 631 | Chain | ID=PRO_0000234604;Note=Coiled-coil domain-containing protein 93 |
| Q567U6 | 576 | 614 | 560 | 601 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q567U6 | 576 | 614 | 448 | 631 | Region | Note=Sufficient for interaction with WASHC2C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25355947;Dbxref=PMID:25355947 |
| 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 |
| Q567U6 | 267 | 296 | 1 | 631 | Chain | ID=PRO_0000234604;Note=Coiled-coil domain-containing protein 93 |
| Q567U6 | 267 | 296 | 231 | 428 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q567U6 | 267 | 296 | 1 | 430 | Region | Note=Sufficient for interaction with CCDC22;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25355947;Dbxref=PMID:25355947 |
| Q567U6 | 450 | 471 | 1 | 631 | Chain | ID=PRO_0000234604;Note=Coiled-coil domain-containing protein 93 |
| Q567U6 | 450 | 471 | 465 | 465 | Natural variant | ID=VAR_054111;Note=Y->H;Dbxref=dbSNP:rs17047557 |
| Q567U6 | 450 | 471 | 448 | 631 | Region | Note=Sufficient for interaction with WASHC2C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25355947;Dbxref=PMID:25355947 |
| Q567U6 | 576 | 614 | 1 | 631 | Chain | ID=PRO_0000234604;Note=Coiled-coil domain-containing protein 93 |
| Q567U6 | 576 | 614 | 560 | 601 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q567U6 | 576 | 614 | 448 | 631 | Region | Note=Sufficient for interaction with WASHC2C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25355947;Dbxref=PMID:25355947 |
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SNVs in the skipped exons for CCDC93 |
| - 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-A3A0-01 | exon_skip_342868 | 118735570 | 118735606 | 118735578 | 118735578 | Frame_Shift_Del | T | - | p.M217fs |
| SARC | TCGA-DX-A8BM-01 | exon_skip_342858 | 118688613 | 118688726 | 118688640 | 118688640 | Nonsense_Mutation | G | T | p.Y605* |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_342858 | 118688613 | 118688726 | 118688702 | 118688702 | Nonsense_Mutation | T | A | p.K585* |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_342858 | 118688613 | 118688726 | 118688702 | 118688702 | Nonsense_Mutation | T | A | p.K585X |
| HNSC | TCGA-CV-7095-01 | exon_skip_342873 | 118758397 | 118758508 | 118758500 | 118758500 | Nonsense_Mutation | G | C | p.S87* |
| - 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 |
| TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118731484 | 118731570 | 118731522 | 118731522 | Missense_Mutation | C | A | p.A284S |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118735570 | 118735606 | 118735589 | 118735589 | Missense_Mutation | C | T | p.R213H |
| HUCCT1_BILIARY_TRACT | 118743545 | 118743645 | 118743575 | 118743575 | Missense_Mutation | C | T | p.R197Q |
| RCCFG2_KIDNEY | 118743545 | 118743645 | 118743638 | 118743638 | Missense_Mutation | T | C | p.Y176C |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 118758397 | 118758508 | 118758401 | 118758401 | Missense_Mutation | A | G | p.V120A |
| KYSE30_OESOPHAGUS | 118758397 | 118758508 | 118758408 | 118758408 | Missense_Mutation | G | A | p.P118S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC93 |
| 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 CCDC93 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC93 |
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RelatedDrugs for CCDC93 |
| 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 CCDC93 |
| 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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