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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 CCDC158 |
 Gene summary |
| Gene information | Gene symbol | CCDC158 | Gene ID | 339965 |
| Gene name | coiled-coil domain containing 158 | |
| Synonyms | - | |
| Cytomap | 4q21.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 158 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5M9N0 | |
| Context | PubMed: CCDC158 [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 CCDC158 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 CCDC158 |
| 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 CCDC158 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_430265 | 4 | 77252496:77252556:77253584:77253644:77255174:77255320 | 77253584:77253644 | ENSG00000163749.13 | ENST00000388914.3 |
| exon_skip_430266 | 4 | 77276476:77276589:77278526:77278679:77283278:77283468 | 77278526:77278679 | ENSG00000163749.13 | ENST00000504667.1,ENST00000388914.3 |
| exon_skip_430268 | 4 | 77300442:77300557:77303762:77303873:77304814:77304891 | 77303762:77303873 | ENSG00000163749.13 | ENST00000434846.2,ENST00000388914.3 |
| exon_skip_430270 | 4 | 77304814:77304891:77305240:77305568:77305708:77305818 | 77305240:77305568 | ENSG00000163749.13 | ENST00000434846.2,ENST00000388914.3 |
| exon_skip_430272 | 4 | 77305708:77305818:77317421:77317639:77324290:77324429 | 77317421:77317639 | ENSG00000163749.13 | ENST00000434846.2,ENST00000388914.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC158 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_430265 | 4 | 77252496:77252556:77253584:77253644:77255174:77255320 | 77253584:77253644 | ENSG00000163749.13 | ENST00000388914.3 |
| exon_skip_430266 | 4 | 77276476:77276589:77278526:77278679:77283278:77283468 | 77278526:77278679 | ENSG00000163749.13 | ENST00000504667.1,ENST00000388914.3 |
| exon_skip_430268 | 4 | 77300442:77300557:77303762:77303873:77304814:77304891 | 77303762:77303873 | ENSG00000163749.13 | ENST00000388914.3,ENST00000434846.2 |
| exon_skip_430270 | 4 | 77304814:77304891:77305240:77305568:77305708:77305818 | 77305240:77305568 | ENSG00000163749.13 | ENST00000388914.3,ENST00000434846.2 |
| exon_skip_430272 | 4 | 77305708:77305818:77317421:77317639:77324290:77324429 | 77317421:77317639 | ENSG00000163749.13 | ENST00000388914.3,ENST00000434846.2 |
| 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 CCDC158 |
| 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 |
| ENST00000388914 | 77305240 | 77305568 | Frame-shift |
| ENST00000388914 | 77317421 | 77317639 | Frame-shift |
| ENST00000388914 | 77253584 | 77253644 | In-frame |
| ENST00000388914 | 77278526 | 77278679 | In-frame |
| ENST00000388914 | 77303762 | 77303873 | 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 |
| ENST00000388914 | 77305240 | 77305568 | Frame-shift |
| ENST00000388914 | 77317421 | 77317639 | Frame-shift |
| ENST00000388914 | 77253584 | 77253644 | In-frame |
| ENST00000388914 | 77278526 | 77278679 | In-frame |
| ENST00000388914 | 77303762 | 77303873 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC158 |
| 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 |
| ENST00000388914 | 3680 | 1113 | 77303762 | 77303873 | 957 | 1067 | 268 | 304 |
| ENST00000388914 | 3680 | 1113 | 77278526 | 77278679 | 2174 | 2326 | 673 | 724 |
| ENST00000388914 | 3680 | 1113 | 77253584 | 77253644 | 2964 | 3023 | 937 | 956 |
| 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 |
| ENST00000388914 | 3680 | 1113 | 77303762 | 77303873 | 957 | 1067 | 268 | 304 |
| ENST00000388914 | 3680 | 1113 | 77278526 | 77278679 | 2174 | 2326 | 673 | 724 |
| ENST00000388914 | 3680 | 1113 | 77253584 | 77253644 | 2964 | 3023 | 937 | 956 |
| 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 |
| Q5M9N0 | 268 | 304 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
| Q5M9N0 | 268 | 304 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5M9N0 | 268 | 304 | 297 | 297 | Natural variant | ID=VAR_039910;Note=I->V;Dbxref=dbSNP:rs17001885 |
| Q5M9N0 | 673 | 724 | 368 | 947 | Alternative sequence | ID=VSP_032391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5M9N0 | 673 | 724 | 407 | 1113 | Alternative sequence | ID=VSP_032392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5M9N0 | 673 | 724 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
| Q5M9N0 | 673 | 724 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5M9N0 | 937 | 956 | 368 | 947 | Alternative sequence | ID=VSP_032391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5M9N0 | 937 | 956 | 407 | 1113 | Alternative sequence | ID=VSP_032392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5M9N0 | 937 | 956 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
| Q5M9N0 | 937 | 956 | 948 | 1056 | Compositional bias | Note=Ser-rich |
| 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 |
| Q5M9N0 | 268 | 304 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
| Q5M9N0 | 268 | 304 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5M9N0 | 268 | 304 | 297 | 297 | Natural variant | ID=VAR_039910;Note=I->V;Dbxref=dbSNP:rs17001885 |
| Q5M9N0 | 673 | 724 | 368 | 947 | Alternative sequence | ID=VSP_032391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5M9N0 | 673 | 724 | 407 | 1113 | Alternative sequence | ID=VSP_032392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5M9N0 | 673 | 724 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
| Q5M9N0 | 673 | 724 | 243 | 833 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q5M9N0 | 937 | 956 | 368 | 947 | Alternative sequence | ID=VSP_032391;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q5M9N0 | 937 | 956 | 407 | 1113 | Alternative sequence | ID=VSP_032392;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5M9N0 | 937 | 956 | 1 | 1113 | Chain | ID=PRO_0000325760;Note=Coiled-coil domain-containing protein 158 |
| Q5M9N0 | 937 | 956 | 948 | 1056 | Compositional bias | Note=Ser-rich |
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SNVs in the skipped exons for CCDC158 |
| - 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-D7-8572-01 | exon_skip_430265 | 77253585 | 77253644 | 77253601 | 77253605 | Frame_Shift_Del | ATCTC | - | p.951_952del |
| STAD | TCGA-D7-8572-01 | exon_skip_430265 | 77253585 | 77253644 | 77253601 | 77253605 | Frame_Shift_Del | ATCTC | - | p.R951fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_430266 | 77278527 | 77278679 | 77278594 | 77278594 | Frame_Shift_Del | T | - | p.K702fs |
| KICH | TCGA-KN-8430-01 | exon_skip_430270 | 77305241 | 77305568 | 77305357 | 77305357 | Frame_Shift_Del | T | - | p.I204fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_430270 | 77305241 | 77305568 | 77305435 | 77305435 | Frame_Shift_Del | T | - | p.M179fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_430272 | 77317422 | 77317639 | 77317620 | 77317620 | Frame_Shift_Del | A | - | p.F30fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_430272 | 77317422 | 77317639 | 77317620 | 77317620 | Frame_Shift_Del | A | - | p.F30fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_430270 | 77305241 | 77305568 | 77305356 | 77305357 | Frame_Shift_Ins | - | T | p.I204fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_430266 | 77278527 | 77278679 | 77278635 | 77278635 | Nonsense_Mutation | C | A | p.E689* |
| SKCM | TCGA-EE-A29E-06 | exon_skip_430268 | 77303763 | 77303873 | 77303806 | 77303806 | Nonsense_Mutation | G | A | p.R291* |
| LGG | TCGA-DU-6392-01 | exon_skip_430270 | 77305241 | 77305568 | 77305273 | 77305273 | Nonsense_Mutation | C | A | p.E232* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_430270 | 77305241 | 77305568 | 77305285 | 77305285 | Nonsense_Mutation | C | A | p.E228* |
| BLCA | TCGA-UY-A9PE-01 | exon_skip_430270 | 77305241 | 77305568 | 77305450 | 77305450 | Nonsense_Mutation | C | A | p.E173* |
| GBM | TCGA-15-0742-01 | exon_skip_430270 | 77305241 | 77305568 | 77305567 | 77305567 | Nonsense_Mutation | G | A | p.R133_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 |
| HCT116_LARGE_INTESTINE | 77305241 | 77305568 | 77305357 | 77305357 | Frame_Shift_Del | T | - | p.I204fs |
| MFE280_ENDOMETRIUM | 77317422 | 77317639 | 77317616 | 77317616 | Frame_Shift_Del | A | - | p.S33fs |
| DOTC24510_CERVIX | 77317422 | 77317639 | 77317628 | 77317628 | Frame_Shift_Del | A | - | p.S28fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77278527 | 77278679 | 77278560 | 77278560 | Missense_Mutation | T | C | p.T714A |
| MDAMB231_BREAST | 77278527 | 77278679 | 77278575 | 77278575 | Missense_Mutation | C | T | p.E709K |
| SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77278527 | 77278679 | 77278649 | 77278649 | Missense_Mutation | C | A | p.R684L |
| PEDS005TPFAD_KIDNEY | 77278527 | 77278679 | 77278668 | 77278668 | Missense_Mutation | C | T | p.V678I |
| IGROV1_OVARY | 77303763 | 77303873 | 77303790 | 77303790 | Missense_Mutation | C | A | p.S296I |
| NCIH1339_LUNG | 77305241 | 77305568 | 77305330 | 77305330 | Missense_Mutation | G | C | p.L213V |
| A101D_SKIN | 77305241 | 77305568 | 77305351 | 77305351 | Missense_Mutation | C | T | p.E206K |
| HS294T_SKIN | 77305241 | 77305568 | 77305351 | 77305351 | Missense_Mutation | C | T | p.E206K |
| SNU81_LARGE_INTESTINE | 77305241 | 77305568 | 77305359 | 77305359 | Missense_Mutation | T | G | p.K203T |
| NCIH2722_PLEURA | 77305241 | 77305568 | 77305429 | 77305429 | Missense_Mutation | G | A | p.L180F |
| HCC2998_LARGE_INTESTINE | 77305241 | 77305568 | 77305468 | 77305468 | Missense_Mutation | C | A | p.D167Y |
| LK2_LUNG | 77305241 | 77305568 | 77305477 | 77305477 | Missense_Mutation | T | C | p.M164V |
| AU565_BREAST | 77305241 | 77305568 | 77305480 | 77305480 | Missense_Mutation | C | T | p.D163N |
| PEDS005TPFAD_KIDNEY | 77305241 | 77305568 | 77305549 | 77305549 | Missense_Mutation | G | T | p.Q140K |
| MELHO_SKIN | 77317422 | 77317639 | 77317543 | 77317543 | Missense_Mutation | T | A | p.K56I |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77317422 | 77317639 | 77317561 | 77317561 | Missense_Mutation | T | C | p.Q50R |
| DIFI_LARGE_INTESTINE | 77317422 | 77317639 | 77317565 | 77317565 | Missense_Mutation | T | C | p.T49A |
| HCC2998_LARGE_INTESTINE | 77317422 | 77317639 | 77317566 | 77317566 | Missense_Mutation | C | A | p.L48F |
| SCLC22H_LUNG | 77317422 | 77317639 | 77317570 | 77317570 | Missense_Mutation | G | C | p.T47S |
| GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77317422 | 77317639 | 77317606 | 77317606 | Missense_Mutation | C | T | p.R35H |
| HEC251_ENDOMETRIUM | 77303763 | 77303873 | 77303833 | 77303833 | Nonsense_Mutation | C | A | p.G282* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC158 |
| 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 CCDC158 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC158 |
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RelatedDrugs for CCDC158 |
| 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 CCDC158 |
| 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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