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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 CCDC117 |
 Gene summary |
| Gene information | Gene symbol | CCDC117 | Gene ID | 150275 |
| Gene name | coiled-coil domain containing 117 | |
| Synonyms | dJ366L4.1 | |
| Cytomap | 22q12.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 117 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IWD4 | |
| Context | PubMed: CCDC117 [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 CCDC117 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 CCDC117 |
| 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 CCDC117 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_364111 | 22 | 29169712:29169766:29176935:29177160:29179495:29179633 | 29176935:29177160 | ENSG00000159873.5 | ENST00000432510.1,ENST00000443309.2,ENST00000453543.1,ENST00000249064.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC117 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_364111 | 22 | 29169712:29169766:29176935:29177160:29179495:29179633 | 29176935:29177160 | ENSG00000159873.5 | ENST00000249064.4,ENST00000453543.1,ENST00000443309.2,ENST00000432510.1 |
| 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 CCDC117 |
| 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 |
| ENST00000249064 | 29176935 | 29177160 | 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 |
| ENST00000249064 | 29176935 | 29177160 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC117 |
| 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 |
| ENST00000249064 | 4002 | 279 | 29176935 | 29177160 | 416 | 640 | 80 | 154 |
| 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 |
| ENST00000249064 | 4002 | 279 | 29176935 | 29177160 | 416 | 640 | 80 | 154 |
| 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 |
| Q8IWD4 | 80 | 154 | 12 | 120 | Alternative sequence | ID=VSP_021185;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15461802;Dbxref=PMID:15461802 |
| Q8IWD4 | 80 | 154 | 63 | 80 | Alternative sequence | ID=VSP_054912;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWD4 | 80 | 154 | 80 | 155 | Alternative sequence | ID=VSP_054913;Note=In isoform 4. DCPVRKKRITEAELCAGPNDWILCAHQDVEGHGVNPSVSGLSIPGILDVICEEMDQTTGEPQCEVARRKLQEIEDR->E;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWD4 | 80 | 154 | 1 | 279 | Chain | ID=PRO_0000254138;Note=Coiled-coil domain-containing protein 117 |
| Q8IWD4 | 80 | 154 | 141 | 168 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWD4 | 80 | 154 | 147 | 147 | Natural variant | ID=VAR_028823;Note=R->S;Dbxref=dbSNP:rs13057011 |
| Q8IWD4 | 80 | 154 | 102 | 102 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8IWD4 | 80 | 154 | 12 | 120 | Alternative sequence | ID=VSP_021185;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15461802;Dbxref=PMID:15461802 |
| Q8IWD4 | 80 | 154 | 63 | 80 | Alternative sequence | ID=VSP_054912;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWD4 | 80 | 154 | 80 | 155 | Alternative sequence | ID=VSP_054913;Note=In isoform 4. DCPVRKKRITEAELCAGPNDWILCAHQDVEGHGVNPSVSGLSIPGILDVICEEMDQTTGEPQCEVARRKLQEIEDR->E;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWD4 | 80 | 154 | 1 | 279 | Chain | ID=PRO_0000254138;Note=Coiled-coil domain-containing protein 117 |
| Q8IWD4 | 80 | 154 | 141 | 168 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWD4 | 80 | 154 | 147 | 147 | Natural variant | ID=VAR_028823;Note=R->S;Dbxref=dbSNP:rs13057011 |
| Q8IWD4 | 80 | 154 | 102 | 102 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CCDC117 |
| - 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 |
| SKCM | TCGA-EB-A51B-01 | exon_skip_364111 | 29176936 | 29177160 | 29177147 | 29177148 | Frame_Shift_Del | GA | - | p.E151fs |
| BLCA | TCGA-KQ-A41R-01 | exon_skip_364111 | 29176936 | 29177160 | 29176964 | 29176964 | Nonsense_Mutation | G | T | p.E90* |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_364111 | 29176936 | 29177160 | 29177153 | 29177153 | Nonsense_Mutation | G | T | p.E153* |
| - 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 |
| EFO21_OVARY | 29176936 | 29177160 | 29177135 | 29177136 | Frame_Shift_Ins | - | G | p.R147fs |
| MEWO_SKIN | 29176936 | 29177160 | 29177040 | 29177040 | Missense_Mutation | C | T | p.P115L |
| NCIH2135_LUNG | 29176936 | 29177160 | 29177105 | 29177105 | Missense_Mutation | A | C | p.T137P |
| 647V_URINARY_TRACT | 29176936 | 29177160 | 29177144 | 29177144 | Missense_Mutation | C | A | p.Q150K |
| SNU81_LARGE_INTESTINE | 29176936 | 29177160 | 29176936 | 29176936 | Splice_Site | T | G | p.D80E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC117 |
| 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 CCDC117 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC117 |
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RelatedDrugs for CCDC117 |
| 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 CCDC117 |
| 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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