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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 CCDC113 |
 Gene summary |
| Gene information | Gene symbol | CCDC113 | Gene ID | 29070 |
| Gene name | coiled-coil domain containing 113 | |
| Synonyms | HSPC065 | |
| Cytomap | 16q21 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 113 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H0I3 | |
| Context | PubMed: CCDC113 [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 CCDC113 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 CCDC113 |
| 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 CCDC113 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137167 | 16 | 58283855:58284019:58286630:58286757:58287901:58288000 | 58286630:58286757 | ENSG00000103021.5 | ENST00000219299.4 |
| exon_skip_137170 | 16 | 58286630:58286757:58287901:58288063:58292271:58292427 | 58287901:58288063 | ENSG00000103021.5 | ENST00000219299.4 |
| exon_skip_137171 | 16 | 58293757:58293838:58296288:58296444:58301382:58301490 | 58296288:58296444 | ENSG00000103021.5 | ENST00000219299.4,ENST00000443128.2 |
| exon_skip_137172 | 16 | 58296288:58296444:58301382:58301490:58312385:58312541 | 58301382:58301490 | ENSG00000103021.5 | ENST00000219299.4,ENST00000443128.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC113 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137167 | 16 | 58283855:58284019:58286630:58286757:58287901:58288000 | 58286630:58286757 | ENSG00000103021.5 | ENST00000219299.4 |
| exon_skip_137168 | 16 | 58283855:58284019:58286630:58286757:58292271:58292427 | 58286630:58286757 | ENSG00000103021.5 | ENST00000443128.2 |
| exon_skip_137170 | 16 | 58286630:58286757:58287901:58288063:58292271:58292427 | 58287901:58288063 | ENSG00000103021.5 | ENST00000219299.4 |
| exon_skip_137171 | 16 | 58293757:58293838:58296288:58296444:58301382:58301490 | 58296288:58296444 | ENSG00000103021.5 | ENST00000443128.2,ENST00000219299.4 |
| exon_skip_137172 | 16 | 58296288:58296444:58301382:58301490:58312385:58312541 | 58301382:58301490 | ENSG00000103021.5 | ENST00000443128.2,ENST00000219299.4 |
| 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 CCDC113 |
| 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 |
| ENST00000219299 | 58286630 | 58286757 | Frame-shift |
| ENST00000219299 | 58287901 | 58288063 | In-frame |
| ENST00000219299 | 58296288 | 58296444 | In-frame |
| ENST00000219299 | 58301382 | 58301490 | 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 |
| ENST00000219299 | 58286630 | 58286757 | Frame-shift |
| ENST00000219299 | 58287901 | 58288063 | In-frame |
| ENST00000219299 | 58296288 | 58296444 | In-frame |
| ENST00000219299 | 58301382 | 58301490 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC113 |
| 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 |
| ENST00000219299 | 5289 | 377 | 58287901 | 58288063 | 308 | 469 | 76 | 130 |
| ENST00000219299 | 5289 | 377 | 58296288 | 58296444 | 707 | 862 | 209 | 261 |
| ENST00000219299 | 5289 | 377 | 58301382 | 58301490 | 863 | 970 | 261 | 297 |
| 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 |
| ENST00000219299 | 5289 | 377 | 58287901 | 58288063 | 308 | 469 | 76 | 130 |
| ENST00000219299 | 5289 | 377 | 58296288 | 58296444 | 707 | 862 | 209 | 261 |
| ENST00000219299 | 5289 | 377 | 58301382 | 58301490 | 863 | 970 | 261 | 297 |
| 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 |
| Q9H0I3 | 76 | 130 | 77 | 130 | Alternative sequence | ID=VSP_042753;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H0I3 | 76 | 130 | 1 | 377 | Chain | ID=PRO_0000279399;Note=Coiled-coil domain-containing protein 113 |
| Q9H0I3 | 76 | 130 | 95 | 243 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H0I3 | 209 | 261 | 1 | 377 | Chain | ID=PRO_0000279399;Note=Coiled-coil domain-containing protein 113 |
| Q9H0I3 | 209 | 261 | 95 | 243 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H0I3 | 261 | 297 | 1 | 377 | Chain | ID=PRO_0000279399;Note=Coiled-coil domain-containing protein 113 |
| Q9H0I3 | 261 | 297 | 280 | 354 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9H0I3 | 76 | 130 | 77 | 130 | Alternative sequence | ID=VSP_042753;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H0I3 | 76 | 130 | 1 | 377 | Chain | ID=PRO_0000279399;Note=Coiled-coil domain-containing protein 113 |
| Q9H0I3 | 76 | 130 | 95 | 243 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H0I3 | 209 | 261 | 1 | 377 | Chain | ID=PRO_0000279399;Note=Coiled-coil domain-containing protein 113 |
| Q9H0I3 | 209 | 261 | 95 | 243 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H0I3 | 261 | 297 | 1 | 377 | Chain | ID=PRO_0000279399;Note=Coiled-coil domain-containing protein 113 |
| Q9H0I3 | 261 | 297 | 280 | 354 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CCDC113 |
| - 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 |
| BRCA | TCGA-BH-A0BP-01 | exon_skip_137170 | 58287902 | 58288063 | 58287992 | 58287992 | Nonsense_Mutation | G | T | p.E107* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_137171 | 58296289 | 58296444 | 58296370 | 58296370 | Nonsense_Mutation | G | T | p.E237* |
| - 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 |
| HEC59_ENDOMETRIUM | 58301383 | 58301490 | 58301455 | 58301456 | Frame_Shift_Ins | - | A | p.E286fs |
| KM12_LARGE_INTESTINE | 58301383 | 58301490 | 58301455 | 58301456 | Frame_Shift_Ins | - | A | p.E286fs |
| HEC151_ENDOMETRIUM | 58286631 | 58286757 | 58286636 | 58286636 | Missense_Mutation | T | C | p.V36A |
| HEC6_ENDOMETRIUM | 58286631 | 58286757 | 58286680 | 58286680 | Missense_Mutation | T | C | p.Y51H |
| SNU1196_BILIARY_TRACT | 58287902 | 58288063 | 58287915 | 58287915 | Missense_Mutation | G | A | p.R81H |
| RHJT_SOFT_TISSUE | 58296289 | 58296444 | 58296392 | 58296392 | Missense_Mutation | C | T | p.T244I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC113 |
| 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 CCDC113 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC113 |
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RelatedDrugs for CCDC113 |
| 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 CCDC113 |
| 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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