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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 CCDC74A |
 Gene summary |
| Gene information | Gene symbol | CCDC74A | Gene ID | 90557 |
| Gene name | coiled-coil domain containing 74A | |
| Synonyms | - | |
| Cytomap | 2q21.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 74A | |
| Modification date | 20180519 | |
| UniProtAcc | Q96AQ1 | |
| Context | PubMed: CCDC74A [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 CCDC74A 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 CCDC74A |
| 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 CCDC74A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENSG00000163040.10 | ENST00000454549.2 |
| exon_skip_329816 | 2 | 132287219:132287264:132288151:132288400:132289236:132289375 | 132288151:132288400 | ENSG00000163040.10 | ENST00000295171.6 |
| exon_skip_329841 | 2 | 132287219:132287264:132288349:132288400:132289236:132289375 | 132288349:132288400 | ENSG00000163040.10 | ENST00000434330.1,ENST00000409856.3 |
| exon_skip_329859 | 2 | 132289301:132289375:132290161:132290354:132290436:132290510 | 132290161:132290354 | ENSG00000163040.10 | ENST00000295171.6,ENST00000409856.3 |
| exon_skip_329864 | 2 | 132289301:132289375:132290282:132290354:132290436:132290510 | 132290282:132290354 | ENSG00000163040.10 | ENST00000434330.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC74A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENSG00000163040.10 | ENST00000454549.2 |
| exon_skip_329816 | 2 | 132287219:132287264:132288151:132288400:132289236:132289375 | 132288151:132288400 | ENSG00000163040.10 | ENST00000295171.6 |
| exon_skip_329841 | 2 | 132287219:132287264:132288349:132288400:132289236:132289375 | 132288349:132288400 | ENSG00000163040.10 | ENST00000409856.3,ENST00000434330.1 |
| exon_skip_329859 | 2 | 132289301:132289375:132290161:132290354:132290436:132290510 | 132290161:132290354 | ENSG00000163040.10 | ENST00000295171.6,ENST00000409856.3 |
| exon_skip_329864 | 2 | 132289301:132289375:132290282:132290354:132290436:132290510 | 132290282:132290354 | ENSG00000163040.10 | ENST00000434330.1 |
| 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 CCDC74A |
| 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 |
| ENST00000295171 | 132290161 | 132290354 | Frame-shift |
| ENST00000295171 | 132288151 | 132288400 | 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 |
| ENST00000295171 | 132290161 | 132290354 | Frame-shift |
| ENST00000295171 | 132288151 | 132288400 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC74A |
| 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 |
| ENST00000295171 | 1560 | 378 | 132288151 | 132288400 | 434 | 682 | 98 | 181 |
| 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 |
| ENST00000295171 | 1560 | 378 | 132288151 | 132288400 | 434 | 682 | 98 | 181 |
| 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 |
| Q96AQ1 | 98 | 181 | 100 | 165 | Alternative sequence | ID=VSP_022729;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96AQ1 | 98 | 181 | 1 | 378 | Chain | ID=PRO_0000274374;Note=Coiled-coil domain-containing protein 74A |
| 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 |
| Q96AQ1 | 98 | 181 | 100 | 165 | Alternative sequence | ID=VSP_022729;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96AQ1 | 98 | 181 | 1 | 378 | Chain | ID=PRO_0000274374;Note=Coiled-coil domain-containing protein 74A |
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SNVs in the skipped exons for CCDC74A |
| - 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. |
CCDC74A_KIRC_exon_skip_329816_psi_boxplot.png |
| - 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 |
| COAD | TCGA-AM-5820-01 | exon_skip_329859 | 132290162 | 132290354 | 132290249 | 132290249 | Frame_Shift_Del | C | - | p.H191fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_329859 | 132290162 | 132290354 | 132290249 | 132290249 | Frame_Shift_Del | C | - | p.H257fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_329859 | 132290162 | 132290354 | 132290249 | 132290249 | Frame_Shift_Del | C | - | p.H257fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_329859 | 132290162 | 132290354 | 132290249 | 132290249 | Frame_Shift_Del | C | - | p.H257fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_329859 | 132290162 | 132290354 | 132290249 | 132290249 | Frame_Shift_Del | C | - | p.H257fs |
| KICH | TCGA-KN-8437-01 | exon_skip_329859 | 132290162 | 132290354 | 132290264 | 132290265 | Frame_Shift_Ins | - | C | p.L262fs |
| KIRC | TCGA-BP-4795-01 | exon_skip_329816 | 132288152 | 132288400 | 132288265 | 132288265 | Nonsense_Mutation | G | T | p.E239* |
| LUAD | TCGA-75-6207-01 | exon_skip_329859 | 132290162 | 132290354 | 132290277 | 132290277 | Nonsense_Mutation | C | T | p.R267* |
| PAAD | TCGA-IB-7651-01 | exon_skip_329859 | 132290162 | 132290354 | 132290277 | 132290277 | Nonsense_Mutation | C | T | p.R267* |
| PAAD | TCGA-IB-7651-01 | exon_skip_329859 | 132290162 | 132290354 | 132290277 | 132290277 | Nonsense_Mutation | C | T | p.R267X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BP-4795-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_329816 | |
| Skipped exon start: 132288152 | |
| Skipped exon end: 132288400 | |
| Mutation start: 132288265 | |
| Mutation end: 132288265 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E239* | |
exon_skip_329816_KIRC_TCGA-BP-4795-01.png | |
| - 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 |
| MERO14_LUNG | 132288152 | 132288400 | 132288220 | 132288220 | Missense_Mutation | G | A | p.G122R |
| SHP77_LUNG | 132290162 | 132290354 | 132290193 | 132290193 | Missense_Mutation | G | A | p.A239T |
| OVTOKO_OVARY | 132290162 | 132290354 | 132290199 | 132290199 | Missense_Mutation | T | C | p.C241R |
| NH12_AUTONOMIC_GANGLIA | 132290162 | 132290354 | 132290199 | 132290199 | Missense_Mutation | T | C | p.C241R |
| JEG3_PLACENTA | 132290162 | 132290354 | 132290205 | 132290205 | Missense_Mutation | G | T | p.G243W |
| NCIH2030_LUNG | 132290162 | 132290354 | 132290208 | 132290208 | Missense_Mutation | A | T | p.N244Y |
| JHH7_LIVER | 132290162 | 132290354 | 132290239 | 132290239 | Missense_Mutation | C | T | p.A254V |
| MELJUSO_SKIN | 132290162 | 132290354 | 132290271 | 132290271 | Missense_Mutation | C | T | p.P265S |
| HCT15_LARGE_INTESTINE | 132290283 | 132290354 | 132290277 | 132290277 | Nonsense_Mutation | C | T | p.R267* |
| HCT15_LARGE_INTESTINE | 132290162 | 132290354 | 132290277 | 132290277 | Nonsense_Mutation | C | T | p.R267* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC74A |
| 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_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | GBM | rs10174409 | chr2:132286155 | G/C | 3.24e-06 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | GBM | rs10174409 | chr2:132286155 | G/C | 4.55e-05 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | CESC | rs10174409 | chr2:132286155 | G/C | 1.55e-06 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | ESCA | rs10174409 | chr2:132286155 | G/C | 2.79e-05 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | KIRP | rs10174409 | chr2:132286155 | G/C | 2.68e-12 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | KIRP | rs10174409 | chr2:132286155 | G/C | 9.67e-07 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | LGG | rs10174409 | chr2:132286155 | G/C | 6.63e-19 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | LGG | rs10174409 | chr2:132286155 | G/C | 3.78e-15 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | KIRC | rs10174409 | chr2:132286155 | G/C | 6.87e-21 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | KIRC | rs10174409 | chr2:132286155 | G/C | 8.70e-15 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | MESO | rs10174409 | chr2:132286155 | G/C | 5.03e-06 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | MESO | rs10174409 | chr2:132286155 | G/C | 3.16e-05 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | LUSC | rs10174409 | chr2:132286155 | G/C | 1.22e-08 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | PCPG | rs10174409 | chr2:132286155 | G/C | 7.29e-07 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | PCPG | rs10174409 | chr2:132286155 | G/C | 1.67e-05 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | PAAD | rs10174409 | chr2:132286155 | G/C | 8.92e-10 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | PAAD | rs10174409 | chr2:132286155 | G/C | 3.55e-05 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | PRAD | rs10174409 | chr2:132286155 | G/C | 1.08e-11 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | PRAD | rs10174409 | chr2:132286155 | G/C | 2.69e-11 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | SARC | rs10174409 | chr2:132286155 | G/C | 4.72e-10 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | SARC | rs10174409 | chr2:132286155 | G/C | 2.20e-07 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | THYM | rs10174409 | chr2:132286155 | G/C | 5.07e-05 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | THCA | rs10174409 | chr2:132286155 | G/C | 3.94e-25 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | THCA | rs10174409 | chr2:132286155 | G/C | 3.22e-16 |
| exon_skip_329799 | 2 | 132285506:132285919:132286065:132286200:132287219:132287264 | 132286065:132286200 | ENST00000454549.2 | UCEC | rs10174409 | chr2:132286155 | G/C | 2.68e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC74A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC74A |
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RelatedDrugs for CCDC74A |
| 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 CCDC74A |
| 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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