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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 CCDC18 |
 Gene summary |
| Gene information | Gene symbol | CCDC18 | Gene ID | 343099 |
| Gene name | coiled-coil domain containing 18 | |
| Synonyms | NY-SAR-41 | |
| Cytomap | 1p22.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 18sarcoma antigen NY-SAR-24sarcoma antigen NY-SAR-41 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T9S5 | |
| Context | PubMed: CCDC18 [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 CCDC18 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 CCDC18 |
| 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 CCDC18 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7953 | 1 | 93646315:93646409:93648916:93649052:93651901:93651955 | 93648916:93649052 | ENSG00000122483.13 | ENST00000479653.1 |
| exon_skip_7954 | 1 | 93648916:93649052:93649534:93649703:93651901:93651955 | 93649534:93649703 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000481180.1,ENST00000334652.5,ENST00000448243.1,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7956 | 1 | 93667448:93667545:93671066:93671188:93672663:93672955 | 93671066:93671188 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000481180.1,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7958 | 1 | 93672667:93672955:93676358:93676483:93677657:93677818 | 93676358:93676483 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000455267.1,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7961 | 1 | 93682192:93682303:93683294:93683426:93687165:93687300 | 93683294:93683426 | ENSG00000122483.13 | ENST00000401026.3,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7962 | 1 | 93687415:93687493:93691889:93692006:93697982:93698150 | 93691889:93692006 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000455267.1,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000421014.2,ENST00000557479.1 |
| exon_skip_7963 | 1 | 93691889:93692006:93697982:93698150:93701804:93701947 | 93697982:93698150 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000455267.1,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7964 | 1 | 93697982:93698150:93701804:93701947:93704866:93705030 | 93701804:93701947 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000455267.1,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7967 | 1 | 93705321:93705453:93711661:93711761:93712394:93712449 | 93711661:93711761 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000455267.1,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7972 | 1 | 93711661:93711761:93712394:93712511:93720027:93720171 | 93712394:93712511 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7973 | 1 | 93712394:93712511:93720027:93720171:93721891:93722095 | 93720027:93720171 | ENSG00000122483.13 | ENST00000401026.3,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 |
| exon_skip_7976 | 1 | 93724304:93724442:93730257:93730458:93735903:93736371 | 93730257:93730458 | ENSG00000122483.13 | ENST00000370276.1,ENST00000343253.7 |
| exon_skip_7977 | 1 | 93730257:93730458:93735903:93736371:93744019:93744034 | 93735903:93736371 | ENSG00000122483.13 | ENST00000370276.1,ENST00000343253.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC18 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7953 | 1 | 93646315:93646409:93648916:93649052:93651901:93651955 | 93648916:93649052 | ENSG00000122483.13 | ENST00000479653.1 |
| exon_skip_7954 | 1 | 93648916:93649052:93649534:93649703:93651901:93651955 | 93649534:93649703 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000448243.1,ENST00000370276.1,ENST00000481180.1 |
| exon_skip_7956 | 1 | 93667448:93667545:93671066:93671188:93672663:93672955 | 93671066:93671188 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000481180.1 |
| exon_skip_7958 | 1 | 93672667:93672955:93676358:93676483:93677657:93677818 | 93676358:93676483 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000455267.1 |
| exon_skip_7961 | 1 | 93682192:93682303:93683294:93683426:93687165:93687300 | 93683294:93683426 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000334652.5,ENST00000370276.1 |
| exon_skip_7962 | 1 | 93687415:93687493:93691889:93692006:93697982:93698150 | 93691889:93692006 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000455267.1,ENST00000421014.2 |
| exon_skip_7963 | 1 | 93691889:93692006:93697982:93698150:93701804:93701947 | 93697982:93698150 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000455267.1 |
| exon_skip_7964 | 1 | 93697982:93698150:93701804:93701947:93704866:93705030 | 93701804:93701947 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000455267.1 |
| exon_skip_7967 | 1 | 93705321:93705453:93711661:93711761:93712394:93712449 | 93711661:93711761 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000455267.1 |
| exon_skip_7972 | 1 | 93711661:93711761:93712394:93712511:93720027:93720171 | 93712394:93712511 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1 |
| exon_skip_7973 | 1 | 93712394:93712511:93720027:93720171:93721891:93722095 | 93720027:93720171 | ENSG00000122483.13 | ENST00000343253.7,ENST00000401026.3,ENST00000557479.1,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1 |
| exon_skip_7976 | 1 | 93724304:93724442:93730257:93730458:93735903:93736371 | 93730257:93730458 | ENSG00000122483.13 | ENST00000343253.7,ENST00000370276.1 |
| exon_skip_7977 | 1 | 93730257:93730458:93735903:93736371:93744019:93744034 | 93735903:93736371 | ENSG00000122483.13 | ENST00000343253.7,ENST00000370276.1 |
| 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 CCDC18 |
| 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 |
| ENST00000343253 | 93649534 | 93649703 | Frame-shift |
| ENST00000343253 | 93671066 | 93671188 | Frame-shift |
| ENST00000343253 | 93676358 | 93676483 | Frame-shift |
| ENST00000343253 | 93701804 | 93701947 | Frame-shift |
| ENST00000343253 | 93711661 | 93711761 | Frame-shift |
| ENST00000343253 | 93683294 | 93683426 | In-frame |
| ENST00000343253 | 93691889 | 93692006 | In-frame |
| ENST00000343253 | 93697982 | 93698150 | In-frame |
| ENST00000343253 | 93712394 | 93712511 | In-frame |
| ENST00000343253 | 93720027 | 93720171 | In-frame |
| ENST00000343253 | 93730257 | 93730458 | In-frame |
| ENST00000343253 | 93735903 | 93736371 | 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 |
| ENST00000343253 | 93649534 | 93649703 | Frame-shift |
| ENST00000343253 | 93671066 | 93671188 | Frame-shift |
| ENST00000343253 | 93676358 | 93676483 | Frame-shift |
| ENST00000343253 | 93701804 | 93701947 | Frame-shift |
| ENST00000343253 | 93711661 | 93711761 | Frame-shift |
| ENST00000343253 | 93683294 | 93683426 | In-frame |
| ENST00000343253 | 93691889 | 93692006 | In-frame |
| ENST00000343253 | 93697982 | 93698150 | In-frame |
| ENST00000343253 | 93712394 | 93712511 | In-frame |
| ENST00000343253 | 93720027 | 93720171 | In-frame |
| ENST00000343253 | 93730257 | 93730458 | In-frame |
| ENST00000343253 | 93735903 | 93736371 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC18 |
| 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 |
| ENST00000343253 | 4884 | 1454 | 93683294 | 93683426 | 2330 | 2461 | 609 | 653 |
| ENST00000343253 | 4884 | 1454 | 93691889 | 93692006 | 2675 | 2791 | 724 | 763 |
| ENST00000343253 | 4884 | 1454 | 93697982 | 93698150 | 2792 | 2959 | 763 | 819 |
| ENST00000343253 | 4884 | 1454 | 93712394 | 93712511 | 3581 | 3697 | 1026 | 1065 |
| ENST00000343253 | 4884 | 1454 | 93720027 | 93720171 | 3698 | 3841 | 1065 | 1113 |
| ENST00000343253 | 4884 | 1454 | 93730257 | 93730458 | 4184 | 4384 | 1227 | 1294 |
| ENST00000343253 | 4884 | 1454 | 93735903 | 93736371 | 4385 | 4852 | 1294 | 1450 |
| 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 |
| ENST00000343253 | 4884 | 1454 | 93683294 | 93683426 | 2330 | 2461 | 609 | 653 |
| ENST00000343253 | 4884 | 1454 | 93691889 | 93692006 | 2675 | 2791 | 724 | 763 |
| ENST00000343253 | 4884 | 1454 | 93697982 | 93698150 | 2792 | 2959 | 763 | 819 |
| ENST00000343253 | 4884 | 1454 | 93712394 | 93712511 | 3581 | 3697 | 1026 | 1065 |
| ENST00000343253 | 4884 | 1454 | 93720027 | 93720171 | 3698 | 3841 | 1065 | 1113 |
| ENST00000343253 | 4884 | 1454 | 93730257 | 93730458 | 4184 | 4384 | 1227 | 1294 |
| ENST00000343253 | 4884 | 1454 | 93735903 | 93736371 | 4385 | 4852 | 1294 | 1450 |
| 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 |
| Q5T9S5 | 609 | 653 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 609 | 653 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 724 | 763 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 724 | 763 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 763 | 819 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 763 | 819 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1026 | 1065 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1026 | 1065 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1065 | 1113 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1065 | 1113 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1227 | 1294 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1227 | 1294 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1294 | 1450 | 1295 | 1450 | Alternative sequence | ID=VSP_024636;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5T9S5 | 1294 | 1450 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1294 | 1450 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1294 | 1450 | 1355 | 1355 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| 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 |
| Q5T9S5 | 609 | 653 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 609 | 653 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 724 | 763 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 724 | 763 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 763 | 819 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 763 | 819 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1026 | 1065 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1026 | 1065 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1065 | 1113 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1065 | 1113 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1227 | 1294 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1227 | 1294 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1294 | 1450 | 1295 | 1450 | Alternative sequence | ID=VSP_024636;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5T9S5 | 1294 | 1450 | 1 | 1454 | Chain | ID=PRO_0000284775;Note=Coiled-coil domain-containing protein 18 |
| Q5T9S5 | 1294 | 1450 | 508 | 1309 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5T9S5 | 1294 | 1450 | 1355 | 1355 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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SNVs in the skipped exons for CCDC18 |
| - 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 |
| STAD | TCGA-BR-4361-01 | exon_skip_7954 | 93649535 | 93649703 | 93649684 | 93649684 | Frame_Shift_Del | A | - | p.Q95fs |
| STAD | TCGA-B7-A5TI-01 | exon_skip_7956 | 93671067 | 93671188 | 93671100 | 93671103 | Frame_Shift_Del | CTAA | - | p.LT277fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_7958 | 93676359 | 93676483 | 93676361 | 93676361 | Frame_Shift_Del | A | - | p.L404fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7958 | 93676359 | 93676483 | 93676361 | 93676361 | Frame_Shift_Del | A | - | p.L404fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_7958 | 93676359 | 93676483 | 93676361 | 93676361 | Frame_Shift_Del | A | - | p.L404fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_7958 | 93676359 | 93676483 | 93676457 | 93676457 | Frame_Shift_Del | A | - | p.A436fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7958 | 93676359 | 93676483 | 93676457 | 93676457 | Frame_Shift_Del | A | - | p.A436fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7961 | 93683295 | 93683426 | 93683368 | 93683368 | Frame_Shift_Del | A | - | p.E634fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7961 | 93683295 | 93683426 | 93683400 | 93683400 | Frame_Shift_Del | A | - | p.K645fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_7962 | 93691890 | 93692006 | 93691978 | 93691978 | Frame_Shift_Del | A | - | p.E754fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7963 | 93697983 | 93698150 | 93698012 | 93698012 | Frame_Shift_Del | A | - | p.I773fs |
| BRCA | TCGA-BH-A18R-01 | exon_skip_7964 | 93701805 | 93701947 | 93701816 | 93701816 | Frame_Shift_Del | G | - | p.E943fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7964 | 93701805 | 93701947 | 93701839 | 93701839 | Frame_Shift_Del | G | - | p.R831fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7972 | 93712395 | 93712511 | 93712444 | 93712444 | Frame_Shift_Del | A | - | p.Q1043fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_7972 | 93712395 | 93712511 | 93712464 | 93712464 | Frame_Shift_Del | G | - | p.G1050fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_7973 | 93720028 | 93720171 | 93720077 | 93720077 | Frame_Shift_Del | A | - | p.E1083fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_7973 | 93720028 | 93720171 | 93720124 | 93720124 | Frame_Shift_Del | A | - | p.K1099fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7973 | 93720028 | 93720171 | 93720124 | 93720124 | Frame_Shift_Del | A | - | p.K1099fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7973 | 93720028 | 93720171 | 93720124 | 93720124 | Frame_Shift_Del | A | - | p.K1099fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7977 | 93735904 | 93736371 | 93736023 | 93736023 | Frame_Shift_Del | A | - | p.P1334fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7977 | 93735904 | 93736371 | 93736023 | 93736023 | Frame_Shift_Del | A | - | p.P1334fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_7977 | 93735904 | 93736371 | 93736332 | 93736332 | Frame_Shift_Del | A | - | p.L1437fs |
| BLCA | TCGA-ZF-AA4W-01 | exon_skip_7961 | 93683295 | 93683426 | 93683367 | 93683368 | Frame_Shift_Ins | - | A | p.E634fs |
| STAD | TCGA-BR-6452-01 | exon_skip_7973 | 93720028 | 93720171 | 93720123 | 93720124 | Frame_Shift_Ins | - | A | p.L1098fs |
| BLCA | TCGA-BT-A0YX-01 | exon_skip_7954 | 93649535 | 93649703 | 93649605 | 93649605 | Nonsense_Mutation | C | T | p.Q187* |
| BLCA | TCGA-BT-A0YX-01 | exon_skip_7954 | 93649535 | 93649703 | 93649605 | 93649605 | Nonsense_Mutation | C | T | p.Q69* |
| COAD | TCGA-CM-4743-01 | exon_skip_7958 | 93676359 | 93676483 | 93676448 | 93676448 | Nonsense_Mutation | C | A | p.C433X |
| HNSC | TCGA-D6-A4ZB-01 | exon_skip_7963 | 93697983 | 93698150 | 93698028 | 93698028 | Nonsense_Mutation | C | T | p.Q779* |
| COAD | TCGA-CA-6717-01 | exon_skip_7972 | 93712395 | 93712511 | 93712459 | 93712459 | Nonsense_Mutation | T | G | p.L1049X |
| STAD | TCGA-BR-8680-01 | exon_skip_7972 | 93712395 | 93712511 | 93712497 | 93712497 | Nonsense_Mutation | G | T | p.E1180* |
| SKCM | TCGA-GN-A26C-01 | exon_skip_7973 | 93720028 | 93720171 | 93720073 | 93720073 | Nonsense_Mutation | C | T | p.R1081* |
| SKCM | TCGA-GN-A26C-01 | exon_skip_7973 | 93720028 | 93720171 | 93720073 | 93720073 | Nonsense_Mutation | C | T | p.R1082X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_7973 | 93720028 | 93720171 | 93720073 | 93720073 | Nonsense_Mutation | C | T | p.R1200* |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_7964 | 93701805 | 93701947 | 93701802 | 93701803 | Splice_Site | - | T | p.V821_splice |
| - 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 |
| HEC151_ENDOMETRIUM | 93649535 | 93649703 | 93649684 | 93649684 | Frame_Shift_Del | A | - | p.Q95fs |
| 22RV1_PROSTATE | 93697983 | 93698150 | 93698143 | 93698143 | Frame_Shift_Del | A | - | p.E817fs |
| MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93649535 | 93649703 | 93649650 | 93649650 | Missense_Mutation | G | A | p.V84I |
| SISO_CERVIX | 93649535 | 93649703 | 93649693 | 93649693 | Missense_Mutation | C | G | p.P98R |
| SARC9371_BONE | 93649535 | 93649703 | 93649695 | 93649695 | Missense_Mutation | A | G | p.R99G |
| SW48_LARGE_INTESTINE | 93671067 | 93671188 | 93671118 | 93671118 | Missense_Mutation | G | A | p.E283K |
| SNU1040_LARGE_INTESTINE | 93671067 | 93671188 | 93671151 | 93671151 | Missense_Mutation | T | C | p.Y294H |
| RL952_ENDOMETRIUM | 93676359 | 93676483 | 93676381 | 93676381 | Missense_Mutation | T | A | p.F411Y |
| SNGM_ENDOMETRIUM | 93676359 | 93676483 | 93676413 | 93676413 | Missense_Mutation | A | G | p.S422G |
| PCI4B_UPPER_AERODIGESTIVE_TRACT | 93683295 | 93683426 | 93683304 | 93683304 | Missense_Mutation | G | C | p.E613Q |
| HT115_LARGE_INTESTINE | 93691890 | 93692006 | 93691970 | 93691970 | Missense_Mutation | A | C | p.E751D |
| NCIH1155_LUNG | 93697983 | 93698150 | 93698023 | 93698023 | Missense_Mutation | G | A | p.S777N |
| A253_SALIVARY_GLAND | 93697983 | 93698150 | 93698107 | 93698107 | Missense_Mutation | G | C | p.R805T |
| ZR7530_BREAST | 93697983 | 93698150 | 93698121 | 93698121 | Missense_Mutation | G | C | p.E810Q |
| SKMG1_CENTRAL_NERVOUS_SYSTEM | 93701805 | 93701947 | 93701817 | 93701817 | Missense_Mutation | G | A | p.E824K |
| A704_KIDNEY | 93701805 | 93701947 | 93701842 | 93701842 | Missense_Mutation | A | T | p.E832V |
| LS411N_LARGE_INTESTINE | 93701805 | 93701947 | 93701850 | 93701850 | Missense_Mutation | G | A | p.A835T |
| HCC1143_BREAST | 93701805 | 93701947 | 93701865 | 93701865 | Missense_Mutation | A | G | p.K840E |
| CW2_LARGE_INTESTINE | 93701805 | 93701947 | 93701890 | 93701890 | Missense_Mutation | C | T | p.A848V |
| COV318_OVARY | 93701805 | 93701947 | 93701938 | 93701938 | Missense_Mutation | G | T | p.G864V |
| MDAMB157_BREAST | 93711662 | 93711761 | 93711667 | 93711667 | Missense_Mutation | G | A | p.C995Y |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 93711662 | 93711761 | 93711710 | 93711710 | Missense_Mutation | G | T | p.M1009I |
| JHUEM7_ENDOMETRIUM | 93720028 | 93720171 | 93720049 | 93720049 | Missense_Mutation | T | G | p.L1073V |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93730258 | 93730458 | 93730260 | 93730260 | Missense_Mutation | G | A | p.M1228I |
| SNUC5_LARGE_INTESTINE | 93730258 | 93730458 | 93730262 | 93730262 | Missense_Mutation | T | C | p.I1229T |
| HEC251_ENDOMETRIUM | 93730258 | 93730458 | 93730450 | 93730450 | Missense_Mutation | C | A | p.L1292I |
| NCIH1155_LUNG | 93735904 | 93736371 | 93736114 | 93736114 | Missense_Mutation | G | A | p.G1365S |
| UACC257_SKIN | 93735904 | 93736371 | 93736186 | 93736186 | Missense_Mutation | G | A | p.E1389K |
| HT115_LARGE_INTESTINE | 93735904 | 93736371 | 93736343 | 93736343 | Missense_Mutation | C | A | p.S1441Y |
| A253_SALIVARY_GLAND | 93648917 | 93649052 | 93648964 | 93648964 | Nonsense_Mutation | G | T | p.E16* |
| IGROV1_OVARY | 93671067 | 93671188 | 93671118 | 93671118 | Nonsense_Mutation | G | T | p.E283* |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93676359 | 93676483 | 93676391 | 93676391 | Nonsense_Mutation | T | G | p.Y414* |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 93701805 | 93701947 | 93701882 | 93701882 | Nonsense_Mutation | T | A | p.C845* |
| GAK_SKIN | 93701805 | 93701947 | 93701882 | 93701882 | Nonsense_Mutation | T | A | p.C845* |
| SKMEL24_SKIN | 93720028 | 93720171 | 93720073 | 93720073 | Nonsense_Mutation | C | T | p.R1081* |
| HEC251_ENDOMETRIUM | 93735904 | 93736371 | 93735997 | 93735997 | Nonsense_Mutation | G | T | p.E1326* |
| CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93683295 | 93683426 | 93683296 | 93683296 | Splice_Site | A | G | p.E610G |
| HCC1395_BREAST | 93691890 | 93692006 | 93692006 | 93692006 | Splice_Site | G | A | p.E763E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC18 |
| 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 |
| exon_skip_7973 | 1 | 93712394:93712511:93720027:93720171:93721891:93722095 | 93720027:93720171 | ENST00000401026.3,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 | BLCA | rs12030843 | chr1:93720070 | C/G | 2.31e-03 |
| exon_skip_7973 | 1 | 93712394:93712511:93720027:93720171:93721891:93722095 | 93720027:93720171 | ENST00000401026.3,ENST00000338949.4,ENST00000334652.5,ENST00000370276.1,ENST00000343253.7,ENST00000557479.1 | LUSC | rs12030843 | chr1:93720070 | C/G | 4.31e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC18 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC18 |
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RelatedDrugs for CCDC18 |
| 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 CCDC18 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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