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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 CCDC51 |
 Gene summary |
| Gene information | Gene symbol | CCDC51 | Gene ID | 79714 |
| Gene name | coiled-coil domain containing 51 | |
| Synonyms | - | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 51 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96ER9 | |
| Context | PubMed: CCDC51 [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 CCDC51 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 CCDC51 |
| 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 CCDC51 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_383559 | 3 | 48475116:48475281:48476226:48476546:48481397:48481475 | 48476226:48476546 | ENSG00000164051.9 | ENST00000395694.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC51 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_383559 | 3 | 48475116:48475281:48476226:48476546:48481397:48481475 | 48476226:48476546 | ENSG00000164051.9 | ENST00000395694.2 |
| 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 CCDC51 |
| 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 |
| ENST00000395694 | 48476226 | 48476546 | 3UTR-3CDS |
| 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 |
| ENST00000395694 | 48476226 | 48476546 | 3UTR-3CDS |
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Infer the effects of exon skipping event on protein functional features for CCDC51 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for CCDC51 |
| - 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-G3-A3CJ-01 | exon_skip_383559 | 48476227 | 48476546 | 48476240 | 48476240 | Frame_Shift_Del | C | - | p.G100fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383559 | 48476227 | 48476546 | 48476247 | 48476247 | Frame_Shift_Del | C | - | p.A98fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_383559 | 48476227 | 48476546 | 48476311 | 48476311 | Frame_Shift_Del | G | - | p.T76fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383559 | 48476227 | 48476546 | 48476423 | 48476423 | Frame_Shift_Del | G | - | p.P39fs |
| HNSC | TCGA-CV-7425-01 | exon_skip_383559 | 48476227 | 48476546 | 48476325 | 48476325 | Nonsense_Mutation | G | A | p.Q72* |
| LUAD | TCGA-86-7955-01 | exon_skip_383559 | 48476227 | 48476546 | 48476460 | 48476460 | Nonsense_Mutation | C | A | p.G27* |
| - 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 |
| MFE319_ENDOMETRIUM | 48476227 | 48476546 | 48476304 | 48476304 | Missense_Mutation | C | G | p.A79P |
| SNUC5_LARGE_INTESTINE | 48476227 | 48476546 | 48476336 | 48476336 | Missense_Mutation | C | T | p.G68E |
| CAL78_BONE | 48476227 | 48476546 | 48476348 | 48476348 | Missense_Mutation | C | G | p.G64A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48476227 | 48476546 | 48476420 | 48476420 | Missense_Mutation | C | T | p.G40D |
| TOV21G_OVARY | 48476227 | 48476546 | 48476474 | 48476474 | Missense_Mutation | C | T | p.R22Q |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48476227 | 48476546 | 48476474 | 48476474 | Missense_Mutation | C | T | p.R22Q |
| CAMA1_BREAST | 48476227 | 48476546 | 48476492 | 48476492 | Missense_Mutation | A | C | p.V16G |
| WM88_SKIN | 48476227 | 48476546 | 48476253 | 48476253 | Nonsense_Mutation | G | A | p.R96* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC51 |
| 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 CCDC51 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC51 |
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RelatedDrugs for CCDC51 |
| 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 CCDC51 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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