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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 CCDC30 |
 Gene summary |
| Gene information | Gene symbol | CCDC30 | Gene ID | 728621 |
| Gene name | coiled-coil domain containing 30 | |
| Synonyms | PFD6L|PFDN6L | |
| Cytomap | 1p34.2 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 30prefoldin subunit 6-like protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q5VVM6 | |
| Context | PubMed: CCDC30 [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 CCDC30 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 CCDC30 |
| 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 CCDC30 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_4811 | 1 | 42964488:42964587:42986833:42986927:43031966:43032146 | 42986833:42986927 | ENSG00000186409.10 | ENST00000507855.1 |
| exon_skip_4812 | 1 | 42964488:42964587:42995272:42995392:43000559:43000660 | 42995272:42995392 | ENSG00000186409.10 | ENST00000509712.1 |
| exon_skip_4813 | 1 | 42964488:42964587:43000559:43000660:43002146:43002272 | 43000559:43000660 | ENSG00000186409.10 | ENST00000495044.1,ENST00000477155.1,ENST00000428554.2 |
| exon_skip_4820 | 1 | 43000559:43000660:43002146:43002272:43011080:43011250 | 43002146:43002272 | ENSG00000186409.10 | ENST00000509712.1,ENST00000477155.1 |
| exon_skip_4824 | 1 | 43002243:43002272:43004843:43004981:43011080:43011250 | 43004843:43004981 | ENSG00000186409.10 | ENST00000342022.4,ENST00000340612.4,ENST00000428554.2 |
| exon_skip_4828 | 1 | 43011080:43011250:43021826:43022076:43031966:43032146 | 43021826:43022076 | ENSG00000186409.10 | ENST00000342022.4,ENST00000509712.1,ENST00000340612.4,ENST00000428554.2,ENST00000471390.1 |
| exon_skip_4830 | 1 | 43031966:43032146:43042690:43042900:43047030:43047087 | 43042690:43042900 | ENSG00000186409.10 | ENST00000342022.4,ENST00000390640.4,ENST00000507855.1,ENST00000340612.4,ENST00000477155.1,ENST00000514642.1,ENST00000428554.2 |
| exon_skip_4831 | 1 | 43042690:43042900:43046502:43046652:43047030:43047087 | 43046502:43046652 | ENSG00000186409.10 | ENST00000509712.1 |
| exon_skip_4835 | 1 | 43076648:43076761:43102907:43103049:43108143:43108280 | 43102907:43103049 | ENSG00000186409.10 | ENST00000342022.4,ENST00000390640.4,ENST00000507855.1,ENST00000340612.4,ENST00000477155.1,ENST00000428554.2,ENST00000471390.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC30 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_4811 | 1 | 42964488:42964587:42986833:42986927:43031966:43032146 | 42986833:42986927 | ENSG00000186409.10 | ENST00000507855.1 |
| exon_skip_4812 | 1 | 42964488:42964587:42995272:42995392:43000559:43000660 | 42995272:42995392 | ENSG00000186409.10 | ENST00000509712.1 |
| exon_skip_4813 | 1 | 42964488:42964587:43000559:43000660:43002146:43002272 | 43000559:43000660 | ENSG00000186409.10 | ENST00000477155.1,ENST00000428554.2,ENST00000495044.1 |
| exon_skip_4820 | 1 | 43000559:43000660:43002146:43002272:43011080:43011250 | 43002146:43002272 | ENSG00000186409.10 | ENST00000477155.1,ENST00000509712.1 |
| exon_skip_4824 | 1 | 43002243:43002272:43004843:43004981:43011080:43011250 | 43004843:43004981 | ENSG00000186409.10 | ENST00000428554.2,ENST00000342022.4,ENST00000340612.4 |
| exon_skip_4828 | 1 | 43011080:43011250:43021826:43022076:43031966:43032146 | 43021826:43022076 | ENSG00000186409.10 | ENST00000428554.2,ENST00000509712.1,ENST00000471390.1,ENST00000342022.4,ENST00000340612.4 |
| exon_skip_4829 | 1 | 43021826:43022076:43023809:43023947:43031966:43032146 | 43023809:43023947 | ENSG00000186409.10 | ENST00000477155.1 |
| exon_skip_4830 | 1 | 43031966:43032146:43042690:43042900:43047030:43047087 | 43042690:43042900 | ENSG00000186409.10 | ENST00000477155.1,ENST00000428554.2,ENST00000507855.1,ENST00000342022.4,ENST00000340612.4,ENST00000514642.1,ENST00000390640.4 |
| exon_skip_4831 | 1 | 43042690:43042900:43046502:43046652:43047030:43047087 | 43046502:43046652 | ENSG00000186409.10 | ENST00000509712.1 |
| exon_skip_4835 | 1 | 43076648:43076761:43102907:43103049:43108143:43108280 | 43102907:43103049 | ENSG00000186409.10 | ENST00000477155.1,ENST00000428554.2,ENST00000507855.1,ENST00000471390.1,ENST00000342022.4,ENST00000340612.4,ENST00000390640.4 |
| 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 CCDC30 |
| 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 |
| ENST00000428554 | 43000559 | 43000660 | 5UTR-5UTR |
| ENST00000342022 | 43021826 | 43022076 | Frame-shift |
| ENST00000428554 | 43021826 | 43022076 | Frame-shift |
| ENST00000342022 | 43102907 | 43103049 | Frame-shift |
| ENST00000428554 | 43102907 | 43103049 | Frame-shift |
| ENST00000342022 | 43004843 | 43004981 | In-frame |
| ENST00000428554 | 43004843 | 43004981 | In-frame |
| ENST00000342022 | 43042690 | 43042900 | In-frame |
| ENST00000428554 | 43042690 | 43042900 | 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 |
| ENST00000428554 | 43000559 | 43000660 | 5UTR-5UTR |
| ENST00000342022 | 43021826 | 43022076 | Frame-shift |
| ENST00000428554 | 43021826 | 43022076 | Frame-shift |
| ENST00000342022 | 43102907 | 43103049 | Frame-shift |
| ENST00000428554 | 43102907 | 43103049 | Frame-shift |
| ENST00000342022 | 43004843 | 43004981 | In-frame |
| ENST00000428554 | 43004843 | 43004981 | In-frame |
| ENST00000342022 | 43042690 | 43042900 | In-frame |
| ENST00000428554 | 43042690 | 43042900 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC30 |
| 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 |
| ENST00000342022 | 3115 | 783 | 43004843 | 43004981 | 228 | 365 | 39 | 85 |
| ENST00000428554 | 3665 | 783 | 43004843 | 43004981 | 1261 | 1398 | 39 | 85 |
| ENST00000342022 | 3115 | 783 | 43042690 | 43042900 | 966 | 1175 | 285 | 355 |
| ENST00000428554 | 3665 | 783 | 43042690 | 43042900 | 1999 | 2208 | 285 | 355 |
| 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 |
| ENST00000342022 | 3115 | 783 | 43004843 | 43004981 | 228 | 365 | 39 | 85 |
| ENST00000428554 | 3665 | 783 | 43004843 | 43004981 | 1261 | 1398 | 39 | 85 |
| ENST00000342022 | 3115 | 783 | 43042690 | 43042900 | 966 | 1175 | 285 | 355 |
| ENST00000428554 | 3665 | 783 | 43042690 | 43042900 | 1999 | 2208 | 285 | 355 |
| 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 |
| Q5VVM6 | 39 | 85 | 1 | 211 | Alternative sequence | ID=VSP_033791;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16710767;Dbxref=PMID:16710767 |
| Q5VVM6 | 39 | 85 | 1 | 211 | Alternative sequence | ID=VSP_033791;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16710767;Dbxref=PMID:16710767 |
| Q5VVM6 | 39 | 85 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 39 | 85 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 39 | 85 | 22 | 98 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VVM6 | 39 | 85 | 22 | 98 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VVM6 | 285 | 355 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 285 | 355 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 285 | 355 | 165 | 497 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VVM6 | 285 | 355 | 165 | 497 | 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 |
| Q5VVM6 | 39 | 85 | 1 | 211 | Alternative sequence | ID=VSP_033791;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16710767;Dbxref=PMID:16710767 |
| Q5VVM6 | 39 | 85 | 1 | 211 | Alternative sequence | ID=VSP_033791;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16710767;Dbxref=PMID:16710767 |
| Q5VVM6 | 39 | 85 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 39 | 85 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 39 | 85 | 22 | 98 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VVM6 | 39 | 85 | 22 | 98 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VVM6 | 285 | 355 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 285 | 355 | 1 | 783 | Chain | ID=PRO_0000336044;Note=Coiled-coil domain-containing protein 30 |
| Q5VVM6 | 285 | 355 | 165 | 497 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5VVM6 | 285 | 355 | 165 | 497 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CCDC30 |
| - 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-CG-4305-01 | exon_skip_4820 | 43002147 | 43002272 | 43002166 | 43002166 | Frame_Shift_Del | A | - | p.E4fs |
| COAD | TCGA-CM-4743-01 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002203 | Frame_Shift_Del | AGAG | - | p.15_16del |
| LUAD | TCGA-38-4625-01 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002201 | Frame_Shift_Del | AG | - | p.KE15fs |
| SARC | TCGA-3B-A9HL-01 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002201 | Frame_Shift_Del | AG | - | p.KE15fs |
| SKCM | TCGA-D3-A2J8-06 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002201 | Frame_Shift_Del | AG | - | p.KE15fs |
| SKCM | TCGA-ER-A2NB-01 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002201 | Frame_Shift_Del | AG | - | p.KE15fs |
| THYM | TCGA-ZB-A96M-01 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002201 | Frame_Shift_Del | AG | - | p.KE15fs |
| UCS | TCGA-N5-A59E-01 | exon_skip_4820 | 43002147 | 43002272 | 43002200 | 43002201 | Frame_Shift_Del | AG | - | p.KE15fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_4824 | 43004844 | 43004981 | 43004927 | 43004927 | Frame_Shift_Del | T | - | p.H67fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_4835 | 43102908 | 43103049 | 43102921 | 43102921 | Frame_Shift_Del | A | - | p.K504fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_4835 | 43102908 | 43103049 | 43102934 | 43102934 | Frame_Shift_Del | A | - | p.Q508fs |
| BLCA | TCGA-GV-A6ZA-01 | exon_skip_4824 | 43004844 | 43004981 | 43004857 | 43004857 | Nonsense_Mutation | C | G | p.S44* |
| LUAD | TCGA-05-4427-01 | exon_skip_4828 | 43021827 | 43022076 | 43021930 | 43021930 | Nonsense_Mutation | C | T | p.R177* |
| BLCA | TCGA-FD-A5BR-01 | exon_skip_4835 | 43102908 | 43103049 | 43102993 | 43102993 | Nonsense_Mutation | A | T | p.K528* |
| - 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 | 43002147 | 43002272 | 43002166 | 43002166 | Frame_Shift_Del | A | - | p.E4fs |
| GP2D_LARGE_INTESTINE | 43002147 | 43002272 | 43002166 | 43002166 | Frame_Shift_Del | A | - | p.E4fs |
| IGROV1_OVARY | 43002147 | 43002272 | 43002166 | 43002166 | Frame_Shift_Del | A | - | p.E4fs |
| EPLC272H_LUNG | 43004844 | 43004981 | 43004848 | 43004848 | Missense_Mutation | T | G | p.L41W |
| CAL148_BREAST | 43004844 | 43004981 | 43004977 | 43004977 | Missense_Mutation | C | G | p.T84R |
| GP2D_LARGE_INTESTINE | 43021827 | 43022076 | 43021883 | 43021883 | Missense_Mutation | G | A | p.G161D |
| GP5D_LARGE_INTESTINE | 43021827 | 43022076 | 43021883 | 43021883 | Missense_Mutation | G | A | p.G161D |
| NCIH2135_LUNG | 43021827 | 43022076 | 43021899 | 43021899 | Missense_Mutation | G | T | p.E166D |
| CW2_LARGE_INTESTINE | 43021827 | 43022076 | 43021976 | 43021976 | Missense_Mutation | C | A | p.P192H |
| KMRC1_KIDNEY | 43042691 | 43042900 | 43042716 | 43042716 | Missense_Mutation | A | G | p.Q294R |
| NCIH748_LUNG | 43102908 | 43103049 | 43102913 | 43102913 | Missense_Mutation | A | G | p.Y501C |
| MEWO_SKIN | 43102908 | 43103049 | 43102918 | 43102918 | Missense_Mutation | G | A | p.E503K |
| SF295_CENTRAL_NERVOUS_SYSTEM | 43102908 | 43103049 | 43102959 | 43102959 | Missense_Mutation | G | C | p.K516N |
| NCIH2023_LUNG | 43102908 | 43103049 | 43103017 | 43103017 | Missense_Mutation | G | A | p.E536K |
| NCIH2887_LUNG | 43102908 | 43103049 | 43103019 | 43103019 | Missense_Mutation | A | C | p.E536D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC30 |
| 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 CCDC30 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC30 |
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RelatedDrugs for CCDC30 |
| 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 CCDC30 |
| 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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