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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 CCDC80 |
 Gene summary |
| Gene information | Gene symbol | CCDC80 | Gene ID | 151887 |
| Gene name | coiled-coil domain containing 80 | |
| Synonyms | DRO1|SSG1|URB|okuribin | |
| Cytomap | 3q13.2 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 80down-regulated by oncogenes protein 1nuclear envelope protein okuribinsteroid sensitive gene 1up-regulated in BRS-3 deficient mouse homolog | |
| Modification date | 20180519 | |
| UniProtAcc | Q76M96 | |
| Context | PubMed: CCDC80 [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 CCDC80 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 CCDC80 |
| 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 CCDC80 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386510 | 3 | 112324446:112324610:112326022:112326103:112328824:112328928 | 112326022:112326103 | ENSG00000091986.11 | ENST00000479368.1,ENST00000206423.3,ENST00000439685.2 |
| exon_skip_386511 | 3 | 112326022:112326103:112328824:112328928:112335556:112335705 | 112328824:112328928 | ENSG00000091986.11 | ENST00000206423.3,ENST00000439685.2 |
| exon_skip_386513 | 3 | 112328824:112328928:112335556:112335705:112337814:112337951 | 112335556:112335705 | ENSG00000091986.11 | ENST00000461431.1,ENST00000206423.3,ENST00000439685.2 |
| exon_skip_386514 | 3 | 112337814:112337951:112348959:112349116:112356874:112356944 | 112348959:112349116 | ENSG00000091986.11 | ENST00000461431.1,ENST00000206423.3,ENST00000439685.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC80 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386510 | 3 | 112324446:112324610:112326022:112326103:112328824:112328928 | 112326022:112326103 | ENSG00000091986.11 | ENST00000206423.3,ENST00000439685.2,ENST00000479368.1 |
| exon_skip_386511 | 3 | 112326022:112326103:112328824:112328928:112335556:112335705 | 112328824:112328928 | ENSG00000091986.11 | ENST00000206423.3,ENST00000439685.2 |
| exon_skip_386513 | 3 | 112328824:112328928:112335556:112335705:112337814:112337951 | 112335556:112335705 | ENSG00000091986.11 | ENST00000206423.3,ENST00000439685.2,ENST00000461431.1 |
| exon_skip_386514 | 3 | 112337814:112337951:112348959:112349116:112356874:112356944 | 112348959:112349116 | ENSG00000091986.11 | ENST00000206423.3,ENST00000439685.2,ENST00000461431.1 |
| 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 CCDC80 |
| 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 |
| ENST00000206423 | 112328824 | 112328928 | Frame-shift |
| ENST00000439685 | 112328824 | 112328928 | Frame-shift |
| ENST00000206423 | 112335556 | 112335705 | Frame-shift |
| ENST00000439685 | 112335556 | 112335705 | Frame-shift |
| ENST00000206423 | 112348959 | 112349116 | Frame-shift |
| ENST00000439685 | 112348959 | 112349116 | Frame-shift |
| ENST00000206423 | 112326022 | 112326103 | In-frame |
| ENST00000439685 | 112326022 | 112326103 | 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 |
| ENST00000206423 | 112328824 | 112328928 | Frame-shift |
| ENST00000439685 | 112328824 | 112328928 | Frame-shift |
| ENST00000206423 | 112335556 | 112335705 | Frame-shift |
| ENST00000439685 | 112335556 | 112335705 | Frame-shift |
| ENST00000206423 | 112348959 | 112349116 | Frame-shift |
| ENST00000439685 | 112348959 | 112349116 | Frame-shift |
| ENST00000206423 | 112326022 | 112326103 | In-frame |
| ENST00000439685 | 112326022 | 112326103 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC80 |
| 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 |
| ENST00000206423 | 4681 | 950 | 112326022 | 112326103 | 3380 | 3460 | 808 | 835 |
| ENST00000439685 | 3574 | 950 | 112326022 | 112326103 | 2814 | 2894 | 808 | 835 |
| 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 |
| ENST00000206423 | 4681 | 950 | 112326022 | 112326103 | 3380 | 3460 | 808 | 835 |
| ENST00000439685 | 3574 | 950 | 112326022 | 112326103 | 2814 | 2894 | 808 | 835 |
| 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 |
| Q76M96 | 808 | 835 | 1 | 865 | Alternative sequence | ID=VSP_024135;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q76M96 | 808 | 835 | 1 | 865 | Alternative sequence | ID=VSP_024135;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q76M96 | 808 | 835 | 22 | 950 | Chain | ID=PRO_0000282418;Note=Coiled-coil domain-containing protein 80 |
| Q76M96 | 808 | 835 | 22 | 950 | Chain | ID=PRO_0000282418;Note=Coiled-coil domain-containing protein 80 |
| 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 |
| Q76M96 | 808 | 835 | 1 | 865 | Alternative sequence | ID=VSP_024135;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q76M96 | 808 | 835 | 1 | 865 | Alternative sequence | ID=VSP_024135;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q76M96 | 808 | 835 | 22 | 950 | Chain | ID=PRO_0000282418;Note=Coiled-coil domain-containing protein 80 |
| Q76M96 | 808 | 835 | 22 | 950 | Chain | ID=PRO_0000282418;Note=Coiled-coil domain-containing protein 80 |
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SNVs in the skipped exons for CCDC80 |
| - 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 |
| BLCA | TCGA-ZF-AA4W-01 | exon_skip_386513 | 112335557 | 112335705 | 112335584 | 112335584 | Frame_Shift_Del | T | - | p.K765fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_386513 | 112335557 | 112335705 | 112335650 | 112335650 | Frame_Shift_Del | A | - | p.F743fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_386514 | 112348960 | 112349116 | 112348978 | 112348978 | Frame_Shift_Del | T | - | p.I673fs |
| - 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 |
| HCC2998_LARGE_INTESTINE | 112326023 | 112326103 | 112326027 | 112326027 | Missense_Mutation | A | C | p.I834M |
| TMK1_STOMACH | 112326023 | 112326103 | 112326028 | 112326028 | Missense_Mutation | A | T | p.I834N |
| SW1271_LUNG | 112326023 | 112326103 | 112326060 | 112326060 | Missense_Mutation | C | A | p.E823D |
| JHUEM2_ENDOMETRIUM | 112326023 | 112326103 | 112326098 | 112326098 | Missense_Mutation | G | A | p.R811C |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112326023 | 112326103 | 112326098 | 112326098 | Missense_Mutation | G | A | p.R811C |
| MEWO_SKIN | 112328825 | 112328928 | 112328885 | 112328885 | Missense_Mutation | C | T | p.D789N |
| NCIH1793_LUNG | 112328825 | 112328928 | 112328888 | 112328888 | Missense_Mutation | T | C | p.N788D |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112328825 | 112328928 | 112328914 | 112328914 | Missense_Mutation | C | A | p.R779M |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112335557 | 112335705 | 112335564 | 112335564 | Missense_Mutation | G | T | p.L772I |
| MCC13_SKIN | 112335557 | 112335705 | 112335573 | 112335573 | Missense_Mutation | C | T | p.E769K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 112335557 | 112335705 | 112335584 | 112335584 | Missense_Mutation | T | C | p.K765R |
| NCIH727_LUNG | 112335557 | 112335705 | 112335633 | 112335633 | Missense_Mutation | C | T | p.D749N |
| NB1643_AUTONOMIC_GANGLIA | 112335557 | 112335705 | 112335642 | 112335642 | Missense_Mutation | G | C | p.R746G |
| C4I_CERVIX | 112335557 | 112335705 | 112335642 | 112335642 | Missense_Mutation | G | C | p.R746G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112335557 | 112335705 | 112335657 | 112335657 | Missense_Mutation | C | T | p.D741N |
| KYSE140_OESOPHAGUS | 112348960 | 112349116 | 112348975 | 112348975 | Missense_Mutation | C | T | p.D674N |
| LU65_LUNG | 112326023 | 112326103 | 112326024 | 112326024 | Splice_Site | A | G | p.N835N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC80 |
| 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 CCDC80 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC80 |
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RelatedDrugs for CCDC80 |
| 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 CCDC80 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CCDC80 | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
| CCDC80 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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