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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 CCDC120 |
 Gene summary |
| Gene information | Gene symbol | CCDC120 | Gene ID | 90060 |
| Gene name | coiled-coil domain containing 120 | |
| Synonyms | JM11 | |
| Cytomap | Xp11.23 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 120 | |
| Modification date | 20180522 | |
| UniProtAcc | Q96HB5 | |
| Context | PubMed: CCDC120 [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 CCDC120 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 CCDC120 |
| 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 CCDC120 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510479 | X | 48916545:48916626:48919489:48919635:48919765:48919820 | 48919489:48919635 | ENSG00000147144.8 | ENST00000603986.1,ENST00000422185.2 |
| exon_skip_510480 | X | 48916545:48916626:48919489:48919648:48919765:48919820 | 48919489:48919648 | ENSG00000147144.8 | ENST00000536628.2 |
| exon_skip_510482 | X | 48921391:48921532:48921900:48922195:48922566:48922629 | 48921900:48922195 | ENSG00000147144.8 | ENST00000496529.2,ENST00000603986.1,ENST00000597275.1,ENST00000603906.1,ENST00000422185.2,ENST00000376396.3,ENST00000536628.2 |
| exon_skip_510487 | X | 48921900:48922195:48922566:48922629:48922984:48923159 | 48922566:48922629 | ENSG00000147144.8 | ENST00000496529.2,ENST00000603986.1,ENST00000597275.1,ENST00000603906.1,ENST00000422185.2,ENST00000376396.3,ENST00000536628.2 |
| exon_skip_510488 | X | 48923277:48923376:48924711:48925626:48926079:48926305 | 48924711:48925626 | ENSG00000147144.8 | ENST00000603986.1,ENST00000603906.1,ENST00000422185.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC120 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510479 | X | 48916545:48916626:48919489:48919635:48919765:48919820 | 48919489:48919635 | ENSG00000147144.8 | ENST00000422185.2,ENST00000603986.1 |
| exon_skip_510480 | X | 48916545:48916626:48919489:48919648:48919765:48919820 | 48919489:48919648 | ENSG00000147144.8 | ENST00000536628.2 |
| exon_skip_510482 | X | 48921391:48921532:48921900:48922195:48922566:48922629 | 48921900:48922195 | ENSG00000147144.8 | ENST00000597275.1,ENST00000496529.2,ENST00000376396.3,ENST00000422185.2,ENST00000603986.1,ENST00000536628.2,ENST00000603906.1 |
| exon_skip_510487 | X | 48921900:48922195:48922566:48922629:48922984:48923159 | 48922566:48922629 | ENSG00000147144.8 | ENST00000597275.1,ENST00000496529.2,ENST00000376396.3,ENST00000422185.2,ENST00000603986.1,ENST00000536628.2,ENST00000603906.1 |
| exon_skip_510488 | X | 48923277:48923376:48924711:48925626:48926079:48926305 | 48924711:48925626 | ENSG00000147144.8 | ENST00000422185.2,ENST00000603986.1,ENST00000603906.1 |
| 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 CCDC120 |
| 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 |
| ENST00000496529 | 48921900 | 48922195 | Frame-shift |
| ENST00000597275 | 48921900 | 48922195 | Frame-shift |
| ENST00000496529 | 48922566 | 48922629 | In-frame |
| ENST00000597275 | 48922566 | 48922629 | 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 |
| ENST00000496529 | 48921900 | 48922195 | Frame-shift |
| ENST00000597275 | 48921900 | 48922195 | Frame-shift |
| ENST00000496529 | 48922566 | 48922629 | In-frame |
| ENST00000597275 | 48922566 | 48922629 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC120 |
| 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 |
| ENST00000496529 | 2432 | 630 | 48922566 | 48922629 | 915 | 977 | 206 | 227 |
| ENST00000597275 | 2769 | 630 | 48922566 | 48922629 | 1127 | 1189 | 206 | 227 |
| 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 |
| ENST00000496529 | 2432 | 630 | 48922566 | 48922629 | 915 | 977 | 206 | 227 |
| ENST00000597275 | 2769 | 630 | 48922566 | 48922629 | 1127 | 1189 | 206 | 227 |
| 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 |
| Q96HB5 | 206 | 227 | 1 | 630 | Chain | ID=PRO_0000254141;Note=Coiled-coil domain-containing protein 120 |
| Q96HB5 | 206 | 227 | 1 | 630 | Chain | ID=PRO_0000254141;Note=Coiled-coil domain-containing protein 120 |
| 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 |
| Q96HB5 | 206 | 227 | 1 | 630 | Chain | ID=PRO_0000254141;Note=Coiled-coil domain-containing protein 120 |
| Q96HB5 | 206 | 227 | 1 | 630 | Chain | ID=PRO_0000254141;Note=Coiled-coil domain-containing protein 120 |
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SNVs in the skipped exons for CCDC120 |
| - 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 |
| BLCA | TCGA-FD-A3N6-01 | exon_skip_510488 | 48924712 | 48925626 | 48924786 | 48924786 | Frame_Shift_Del | C | - | p.A344fs |
| ESCA | TCGA-IG-A97H-01 | exon_skip_510488 | 48924712 | 48925626 | 48924907 | 48924908 | Frame_Shift_Del | TG | - | p.A420fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_510488 | 48924712 | 48925626 | 48925140 | 48925140 | Frame_Shift_Del | G | - | p.W462fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_510488 | 48924712 | 48925626 | 48925140 | 48925140 | Frame_Shift_Del | G | - | p.W497fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_510488 | 48924712 | 48925626 | 48925140 | 48925140 | Frame_Shift_Del | G | - | p.W462fs |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_510482 | 48921901 | 48922195 | 48922114 | 48922114 | Nonsense_Mutation | C | T | p.Q180* |
| CESC | TCGA-EK-A3GK-01 | exon_skip_510487 | 48922567 | 48922629 | 48922603 | 48922603 | Nonsense_Mutation | C | G | p.S219* |
| BLCA | TCGA-DK-A3IT-01 | exon_skip_510488 | 48924712 | 48925626 | 48925163 | 48925163 | Nonsense_Mutation | G | T | p.E470* |
| - 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 |
| PACADD137_PANCREAS | 48924712 | 48925626 | 48925140 | 48925140 | Frame_Shift_Del | G | - | p.W462fs |
| LS411N_LARGE_INTESTINE | 48924712 | 48925626 | 48925140 | 48925140 | Frame_Shift_Del | G | - | p.W462fs |
| CCK81_LARGE_INTESTINE | 48924712 | 48925626 | 48925610 | 48925610 | Frame_Shift_Del | C | - | p.P620fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48921901 | 48922195 | 48922173 | 48922173 | Missense_Mutation | G | A | p.M199I |
| KM12_LARGE_INTESTINE | 48921901 | 48922195 | 48922177 | 48922177 | Missense_Mutation | C | T | p.L201F |
| NCIH64_LUNG | 48922567 | 48922629 | 48922589 | 48922589 | Missense_Mutation | G | C | p.E214D |
| 639V_URINARY_TRACT | 48924712 | 48925626 | 48924759 | 48924759 | Missense_Mutation | A | T | p.Q335L |
| NCIBL2122_MATCHED_NORMAL_TISSUE | 48924712 | 48925626 | 48924780 | 48924780 | Missense_Mutation | A | C | p.D342A |
| SW48_LARGE_INTESTINE | 48924712 | 48925626 | 48924828 | 48924828 | Missense_Mutation | G | A | p.S358N |
| SNU1040_LARGE_INTESTINE | 48924712 | 48925626 | 48924860 | 48924860 | Missense_Mutation | G | A | p.A369T |
| ARH77_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48924712 | 48925626 | 48924881 | 48924881 | Missense_Mutation | T | C | p.S376P |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48924712 | 48925626 | 48924906 | 48924906 | Missense_Mutation | C | T | p.S384F |
| ABC1_LUNG | 48924712 | 48925626 | 48924966 | 48924966 | Missense_Mutation | C | T | p.T404I |
| LB1047EBV_MATCHED_NORMAL_TISSUE | 48924712 | 48925626 | 48925010 | 48925010 | Missense_Mutation | C | T | p.R419W |
| LB1047RCC_KIDNEY | 48924712 | 48925626 | 48925010 | 48925010 | Missense_Mutation | C | T | p.R419W |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48924712 | 48925626 | 48925059 | 48925059 | Missense_Mutation | G | A | p.R435Q |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48924712 | 48925626 | 48925119 | 48925119 | Missense_Mutation | G | A | p.R455H |
| HS606T_FIBROBLAST | 48924712 | 48925626 | 48925141 | 48925141 | Missense_Mutation | G | C | p.W462C |
| HCC2450_LUNG | 48924712 | 48925626 | 48925325 | 48925325 | Missense_Mutation | G | A | p.E524K |
| HEC1_ENDOMETRIUM | 48924712 | 48925626 | 48925332 | 48925332 | Missense_Mutation | C | A | p.P526H |
| GP2D_LARGE_INTESTINE | 48924712 | 48925626 | 48925340 | 48925340 | Missense_Mutation | C | T | p.H529Y |
| GP5D_LARGE_INTESTINE | 48924712 | 48925626 | 48925340 | 48925340 | Missense_Mutation | C | T | p.H529Y |
| RERFLCFM_LUNG | 48924712 | 48925626 | 48925376 | 48925376 | Missense_Mutation | C | T | p.R541C |
| SNGM_ENDOMETRIUM | 48924712 | 48925626 | 48925386 | 48925386 | Missense_Mutation | C | T | p.S544L |
| SNUC2A_LARGE_INTESTINE | 48924712 | 48925626 | 48925482 | 48925482 | Missense_Mutation | G | A | p.R576Q |
| HCC1359_LUNG | 48924712 | 48925626 | 48925515 | 48925515 | Missense_Mutation | C | T | p.P587L |
| LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48924712 | 48925626 | 48925532 | 48925532 | Missense_Mutation | C | T | p.R593C |
| EN_ENDOMETRIUM | 48924712 | 48925626 | 48925539 | 48925539 | Missense_Mutation | A | G | p.Y595C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC120 |
| 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 CCDC120 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC120 |
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RelatedDrugs for CCDC120 |
| 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 CCDC120 |
| 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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