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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 CCDC138 |
 Gene summary |
| Gene information | Gene symbol | CCDC138 | Gene ID | 165055 |
| Gene name | coiled-coil domain containing 138 | |
| Synonyms | - | |
| Cytomap | 2q13 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 138 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96M89 | |
| Context | PubMed: CCDC138 [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 CCDC138 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 CCDC138 |
| 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 CCDC138 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328541 | 2 | 109403228:109403260:109404487:109404545:109405307:109405422 | 109404487:109404545 | ENSG00000163006.7 | ENST00000470608.1 |
| exon_skip_328542 | 2 | 109403243:109403371:109404487:109404545:109405307:109405422 | 109404487:109404545 | ENSG00000163006.7 | ENST00000295124.4,ENST00000409529.2 |
| exon_skip_328544 | 2 | 109404487:109404545:109405307:109405422:109408130:109408258 | 109405307:109405422 | ENSG00000163006.7 | ENST00000295124.4,ENST00000412964.2 |
| exon_skip_328547 | 2 | 109405307:109405422:109408130:109408258:109410995:109411126 | 109408130:109408258 | ENSG00000163006.7 | ENST00000295124.4,ENST00000412964.2 |
| exon_skip_328548 | 2 | 109405307:109405422:109408135:109408258:109410995:109411126 | 109408135:109408258 | ENSG00000163006.7 | ENST00000447782.1 |
| exon_skip_328549 | 2 | 109405307:109405422:109408167:109408258:109410995:109411126 | 109408167:109408258 | ENSG00000163006.7 | ENST00000470608.1 |
| exon_skip_328550 | 2 | 109410995:109411177:109414883:109415042:109421344:109421464 | 109414883:109415042 | ENSG00000163006.7 | ENST00000295124.4,ENST00000412964.2,ENST00000409529.2 |
| exon_skip_328552 | 2 | 109429275:109429383:109432396:109432561:109455640:109455757 | 109432396:109432561 | ENSG00000163006.7 | ENST00000295124.4,ENST00000412964.2,ENST00000409529.2,ENST00000456512.1 |
| exon_skip_328556 | 2 | 109432396:109432561:109455640:109455757:109463193:109463236 | 109455640:109455757 | ENSG00000163006.7 | ENST00000295124.4,ENST00000412964.2,ENST00000409529.2,ENST00000456512.1 |
| exon_skip_328565 | 2 | 109463193:109463386:109473249:109473426:109489906:109490045 | 109473249:109473426 | ENSG00000163006.7 | ENST00000295124.4 |
| exon_skip_328566 | 2 | 109463193:109463386:109473249:109473426:109492543:109493032 | 109473249:109473426 | ENSG00000163006.7 | ENST00000412964.2,ENST00000409529.2 |
| exon_skip_328570 | 2 | 109473383:109473426:109489906:109490045:109492543:109493032 | 109489906:109490045 | ENSG00000163006.7 | ENST00000295124.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC138 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328541 | 2 | 109403228:109403260:109404487:109404545:109405307:109405422 | 109404487:109404545 | ENSG00000163006.7 | ENST00000470608.1 |
| exon_skip_328542 | 2 | 109403243:109403371:109404487:109404545:109405307:109405422 | 109404487:109404545 | ENSG00000163006.7 | ENST00000409529.2,ENST00000295124.4 |
| exon_skip_328544 | 2 | 109404487:109404545:109405307:109405422:109408130:109408258 | 109405307:109405422 | ENSG00000163006.7 | ENST00000412964.2,ENST00000295124.4 |
| exon_skip_328546 | 2 | 109405307:109405422:109408010:109408258:109410995:109411126 | 109408010:109408258 | ENSG00000163006.7 | ENST00000409529.2 |
| exon_skip_328547 | 2 | 109405307:109405422:109408130:109408258:109410995:109411126 | 109408130:109408258 | ENSG00000163006.7 | ENST00000412964.2,ENST00000295124.4 |
| exon_skip_328548 | 2 | 109405307:109405422:109408135:109408258:109410995:109411126 | 109408135:109408258 | ENSG00000163006.7 | ENST00000447782.1 |
| exon_skip_328549 | 2 | 109405307:109405422:109408167:109408258:109410995:109411126 | 109408167:109408258 | ENSG00000163006.7 | ENST00000470608.1 |
| exon_skip_328550 | 2 | 109410995:109411177:109414883:109415042:109421344:109421464 | 109414883:109415042 | ENSG00000163006.7 | ENST00000412964.2,ENST00000409529.2,ENST00000295124.4 |
| exon_skip_328552 | 2 | 109429275:109429383:109432396:109432561:109455640:109455757 | 109432396:109432561 | ENSG00000163006.7 | ENST00000412964.2,ENST00000409529.2,ENST00000295124.4,ENST00000456512.1 |
| exon_skip_328556 | 2 | 109432396:109432561:109455640:109455757:109463193:109463236 | 109455640:109455757 | ENSG00000163006.7 | ENST00000412964.2,ENST00000409529.2,ENST00000295124.4,ENST00000456512.1 |
| exon_skip_328565 | 2 | 109463193:109463386:109473249:109473426:109489906:109490045 | 109473249:109473426 | ENSG00000163006.7 | ENST00000295124.4 |
| exon_skip_328566 | 2 | 109463193:109463386:109473249:109473426:109492543:109493032 | 109473249:109473426 | ENSG00000163006.7 | ENST00000412964.2,ENST00000409529.2 |
| exon_skip_328570 | 2 | 109473383:109473426:109489906:109490045:109492543:109493032 | 109489906:109490045 | ENSG00000163006.7 | ENST00000295124.4 |
| 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 CCDC138 |
| 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 |
| ENST00000295124 | 109404487 | 109404545 | Frame-shift |
| ENST00000295124 | 109405307 | 109405422 | Frame-shift |
| ENST00000295124 | 109408130 | 109408258 | Frame-shift |
| ENST00000295124 | 109489906 | 109490045 | Frame-shift |
| ENST00000295124 | 109414883 | 109415042 | In-frame |
| ENST00000295124 | 109432396 | 109432561 | In-frame |
| ENST00000295124 | 109455640 | 109455757 | In-frame |
| ENST00000295124 | 109473249 | 109473426 | 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 |
| ENST00000295124 | 109404487 | 109404545 | Frame-shift |
| ENST00000295124 | 109405307 | 109405422 | Frame-shift |
| ENST00000295124 | 109408130 | 109408258 | Frame-shift |
| ENST00000295124 | 109489906 | 109490045 | Frame-shift |
| ENST00000295124 | 109414883 | 109415042 | In-frame |
| ENST00000295124 | 109432396 | 109432561 | In-frame |
| ENST00000295124 | 109455640 | 109455757 | In-frame |
| ENST00000295124 | 109473249 | 109473426 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC138 |
| 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 |
| ENST00000295124 | 2400 | 665 | 109414883 | 109415042 | 637 | 795 | 192 | 245 |
| ENST00000295124 | 2400 | 665 | 109432396 | 109432561 | 1102 | 1266 | 347 | 402 |
| ENST00000295124 | 2400 | 665 | 109455640 | 109455757 | 1267 | 1383 | 402 | 441 |
| ENST00000295124 | 2400 | 665 | 109473249 | 109473426 | 1577 | 1753 | 505 | 564 |
| 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 |
| ENST00000295124 | 2400 | 665 | 109414883 | 109415042 | 637 | 795 | 192 | 245 |
| ENST00000295124 | 2400 | 665 | 109432396 | 109432561 | 1102 | 1266 | 347 | 402 |
| ENST00000295124 | 2400 | 665 | 109455640 | 109455757 | 1267 | 1383 | 402 | 441 |
| ENST00000295124 | 2400 | 665 | 109473249 | 109473426 | 1577 | 1753 | 505 | 564 |
| 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 |
| Q96M89 | 192 | 245 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| Q96M89 | 192 | 245 | 198 | 323 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96M89 | 347 | 402 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| Q96M89 | 402 | 441 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| Q96M89 | 505 | 564 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| 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 |
| Q96M89 | 192 | 245 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| Q96M89 | 192 | 245 | 198 | 323 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96M89 | 347 | 402 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| Q96M89 | 402 | 441 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
| Q96M89 | 505 | 564 | 1 | 665 | Chain | ID=PRO_0000288454;Note=Coiled-coil domain-containing protein 138 |
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SNVs in the skipped exons for CCDC138 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_328550 | 109414884 | 109415042 | 109414937 | 109414937 | Frame_Shift_Del | T | - | p.R210fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328550 | 109414884 | 109415042 | 109414963 | 109414963 | Frame_Shift_Del | T | - | p.L219fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_328550 | 109414884 | 109415042 | 109414998 | 109414998 | Frame_Shift_Del | G | - | p.G231fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_328552 | 109432397 | 109432561 | 109432425 | 109432425 | Frame_Shift_Del | T | - | p.L358fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328552 | 109432397 | 109432561 | 109432502 | 109432502 | Frame_Shift_Del | A | - | p.K384fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328565 exon_skip_328566 | 109473250 | 109473426 | 109473308 | 109473308 | Frame_Shift_Del | A | - | p.G525fs |
| LIHC | TCGA-G3-A5SJ-01 | exon_skip_328544 | 109405308 | 109405422 | 109405347 | 109405347 | Nonsense_Mutation | C | A | p.S64* |
| LIHC | TCGA-G3-A5SJ-01 | exon_skip_328544 | 109405308 | 109405422 | 109405347 | 109405347 | Nonsense_Mutation | C | A | p.S64X |
| LUAD | TCGA-38-4631-01 | exon_skip_328550 | 109414884 | 109415042 | 109415040 | 109415040 | Nonsense_Mutation | G | T | p.E245* |
| KIRC | TCGA-B8-5551-01 | exon_skip_328542 exon_skip_328541 | 109404488 | 109404545 | 109404486 | 109404486 | Splice_Site | A | T | . |
| CHOL | TCGA-W5-AA38-01 | exon_skip_328544 | 109405308 | 109405422 | 109405307 | 109405307 | Splice_Site | G | T | . |
| UCEC | TCGA-D1-A17H-01 | exon_skip_328544 | 109405308 | 109405422 | 109405307 | 109405307 | Splice_Site | G | T | p.G51_splice |
| THYM | TCGA-XU-AAXY-01 | exon_skip_328544 | 109405308 | 109405422 | 109405423 | 109405423 | Splice_Site | G | T | . |
| LIHC | TCGA-DD-AACI-01 | exon_skip_328549 exon_skip_328548 exon_skip_328547 | 109408131 | 109408258 | 109408129 | 109408129 | Splice_Site | A | T | . |
| - 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 |
| LS180_LARGE_INTESTINE | 109414884 | 109415042 | 109414937 | 109414937 | Frame_Shift_Del | T | - | p.R210fs |
| RPMI6666_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109473250 | 109473426 | 109473280 | 109473283 | Frame_Shift_Del | TTTG | - | p.LC516fs |
| IPC298_SKIN | 109404488 | 109404545 | 109404521 | 109404521 | Missense_Mutation | A | G | p.K43E |
| HEC108_ENDOMETRIUM | 109405308 | 109405422 | 109405347 | 109405347 | Missense_Mutation | C | T | p.S64L |
| NO10_CENTRAL_NERVOUS_SYSTEM | 109408136 | 109408258 | 109408151 | 109408151 | Missense_Mutation | C | A | p.S96Y |
| NO10_CENTRAL_NERVOUS_SYSTEM | 109408131 | 109408258 | 109408151 | 109408151 | Missense_Mutation | C | A | p.S96Y |
| NCIH1155_LUNG | 109414884 | 109415042 | 109414930 | 109414930 | Missense_Mutation | G | A | p.R208Q |
| EN_ENDOMETRIUM | 109414884 | 109415042 | 109414935 | 109414935 | Missense_Mutation | C | T | p.R210C |
| HT144_SKIN | 109414884 | 109415042 | 109414936 | 109414936 | Missense_Mutation | G | A | p.R210H |
| NH12_AUTONOMIC_GANGLIA | 109414884 | 109415042 | 109414936 | 109414936 | Missense_Mutation | G | C | p.R210P |
| HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109414884 | 109415042 | 109414936 | 109414936 | Missense_Mutation | G | C | p.R210P |
| NCIH510_LUNG | 109432397 | 109432561 | 109432439 | 109432439 | Missense_Mutation | A | G | p.M362V |
| KYSE150_OESOPHAGUS | 109432397 | 109432561 | 109432448 | 109432448 | Missense_Mutation | A | G | p.I365V |
| C32_SKIN | 109432397 | 109432561 | 109432542 | 109432542 | Missense_Mutation | T | C | p.I396T |
| MRKNU1_BREAST | 109455641 | 109455757 | 109455646 | 109455646 | Missense_Mutation | G | T | p.L404F |
| HCC2998_LARGE_INTESTINE | 109455641 | 109455757 | 109455717 | 109455717 | Missense_Mutation | T | G | p.F428C |
| SNU81_LARGE_INTESTINE | 109455641 | 109455757 | 109455717 | 109455717 | Missense_Mutation | T | G | p.F428C |
| HEC251_ENDOMETRIUM | 109473250 | 109473426 | 109473277 | 109473277 | Missense_Mutation | C | A | p.S515Y |
| CAL78_BONE | 109473250 | 109473426 | 109473298 | 109473298 | Missense_Mutation | C | T | p.T522I |
| EMCBAC1_LUNG | 109473250 | 109473426 | 109473317 | 109473317 | Missense_Mutation | G | T | p.L528F |
| MUGCHOR1_BONE | 109473250 | 109473426 | 109473405 | 109473405 | Missense_Mutation | C | G | p.L558V |
| DSH1_URINARY_TRACT | 109489907 | 109490045 | 109489954 | 109489954 | Missense_Mutation | C | T | p.R581C |
| GP5D_LARGE_INTESTINE | 109489907 | 109490045 | 109489957 | 109489957 | Missense_Mutation | A | G | p.T582A |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109455641 | 109455757 | 109455641 | 109455641 | Splice_Site | C | A | p.L403I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC138 |
| 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_328549 | 2 | 109405307:109405422:109408167:109408258:109410995:109411126 | 109408167:109408258 | ENST00000470608.1 | HNSC | rs6740879 | chr2:109408208 | G/A | 2.70e-03 |
| exon_skip_328548 | 2 | 109405307:109405422:109408135:109408258:109410995:109411126 | 109408135:109408258 | ENST00000447782.1 | HNSC | rs6740879 | chr2:109408208 | G/A | 2.70e-03 |
| exon_skip_328547 | 2 | 109405307:109405422:109408130:109408258:109410995:109411126 | 109408130:109408258 | ENST00000295124.4,ENST00000412964.2 | HNSC | rs6740879 | chr2:109408208 | G/A | 2.70e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC138 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC138 |
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RelatedDrugs for CCDC138 |
| 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 CCDC138 |
| 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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