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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 CCDC33 |
 Gene summary |
| Gene information | Gene symbol | CCDC33 | Gene ID | 80125 |
| Gene name | coiled-coil domain containing 33 | |
| Synonyms | CT61|HP11097 | |
| Cytomap | 15q24.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 33cancer/testis antigen 61hypothetical protein HP11097 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N5R6 | |
| Context | PubMed: CCDC33 [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 CCDC33 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 CCDC33 |
| 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 CCDC33 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_123483 | 15 | 74536343:74536489:74554780:74554914:74559018:74559128 | 74554780:74554914 | ENSG00000140481.9 | ENST00000398814.3,ENST00000321288.5 |
| exon_skip_123484 | 15 | 74572303:74572433:74573008:74573142:74574118:74574190 | 74573008:74573142 | ENSG00000140481.9 | ENST00000558659.1,ENST00000398814.3,ENST00000321288.5 |
| exon_skip_123485 | 15 | 74622529:74622695:74623003:74623092:74623321:74623453 | 74623003:74623092 | ENSG00000140481.9 | ENST00000558821.1,ENST00000560565.1,ENST00000558659.1,ENST00000398814.3,ENST00000268082.4,ENST00000321374.5,ENST00000321288.5 |
| exon_skip_123486 | 15 | 74623324:74623453:74623543:74623637:74625019:74625186 | 74623543:74623637 | ENSG00000140481.9 | ENST00000558821.1,ENST00000558659.1,ENST00000398814.3,ENST00000268082.4,ENST00000321374.5,ENST00000321288.5 |
| exon_skip_123491 | 15 | 74625019:74625186:74625561:74625663:74626221:74626308 | 74625561:74625663 | ENSG00000140481.9 | ENST00000558659.1,ENST00000268082.4,ENST00000321288.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC33 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_123483 | 15 | 74536343:74536489:74554780:74554914:74559018:74559128 | 74554780:74554914 | ENSG00000140481.9 | ENST00000321288.5,ENST00000398814.3 |
| exon_skip_123484 | 15 | 74572303:74572433:74573008:74573142:74574118:74574190 | 74573008:74573142 | ENSG00000140481.9 | ENST00000321288.5,ENST00000398814.3,ENST00000558659.1 |
| exon_skip_123485 | 15 | 74622529:74622695:74623003:74623092:74623321:74623453 | 74623003:74623092 | ENSG00000140481.9 | ENST00000321288.5,ENST00000398814.3,ENST00000558659.1,ENST00000560565.1,ENST00000321374.5,ENST00000558821.1,ENST00000268082.4 |
| exon_skip_123486 | 15 | 74623324:74623453:74623543:74623637:74625019:74625186 | 74623543:74623637 | ENSG00000140481.9 | ENST00000321288.5,ENST00000398814.3,ENST00000558659.1,ENST00000321374.5,ENST00000558821.1,ENST00000268082.4 |
| exon_skip_123491 | 15 | 74625019:74625186:74625561:74625663:74626221:74626308 | 74625561:74625663 | ENSG00000140481.9 | ENST00000321288.5,ENST00000558659.1,ENST00000268082.4 |
| 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 CCDC33 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CCDC33 |
| 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 CCDC33 |
| - 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_123483 | 74554781 | 74554914 | 74554864 | 74554864 | Frame_Shift_Del | G | - | p.W293fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_123484 | 74573009 | 74573142 | 74573101 | 74573101 | Frame_Shift_Del | A | - | p.G327fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_123484 | 74573009 | 74573142 | 74573101 | 74573101 | Frame_Shift_Del | A | - | p.G532fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_123484 | 74573009 | 74573142 | 74573101 | 74573101 | Frame_Shift_Del | A | - | p.K531fs |
| UCEC | TCGA-AP-A053-01 | exon_skip_123485 | 74623004 | 74623092 | 74623089 | 74623090 | Frame_Shift_Del | TC | - | p.I514fs |
| BLCA | TCGA-DK-AA6U-01 | exon_skip_123491 | 74625562 | 74625663 | 74625627 | 74625627 | Frame_Shift_Del | A | - | p.P871fs |
| LGG | TCGA-DU-7007-01 | exon_skip_123483 | 74554781 | 74554914 | 74554908 | 74554908 | Nonsense_Mutation | C | T | p.Q308* |
| - 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 |
| RKO_LARGE_INTESTINE | 74554781 | 74554914 | 74554864 | 74554864 | Frame_Shift_Del | G | - | p.W90fs |
| IM95_STOMACH | 74554781 | 74554914 | 74554863 | 74554864 | Frame_Shift_Ins | - | G | p.W90fs |
| HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74554781 | 74554914 | 74554802 | 74554802 | Missense_Mutation | G | C | p.K69N |
| LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74554781 | 74554914 | 74554806 | 74554806 | Missense_Mutation | A | G | p.N71D |
| GCT_SOFT_TISSUE | 74554781 | 74554914 | 74554869 | 74554869 | Missense_Mutation | G | A | p.D92N |
| CAL72_BONE | 74573009 | 74573142 | 74573075 | 74573075 | Missense_Mutation | G | A | p.R319H |
| HOS_BONE | 74573009 | 74573142 | 74573075 | 74573075 | Missense_Mutation | G | A | p.R319H |
| WM1552C_SKIN | 74573009 | 74573142 | 74573075 | 74573075 | Missense_Mutation | G | A | p.R319H |
| KYSE140_OESOPHAGUS | 74623004 | 74623092 | 74623052 | 74623052 | Missense_Mutation | T | G | p.L502R |
| SNU1040_LARGE_INTESTINE | 74623544 | 74623637 | 74623562 | 74623562 | Missense_Mutation | C | T | p.R566W |
| 639V_URINARY_TRACT | 74623544 | 74623637 | 74623565 | 74623565 | Missense_Mutation | G | A | p.V567M |
| HCC15_LUNG | 74623544 | 74623637 | 74623584 | 74623584 | Missense_Mutation | A | T | p.Q573L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74623544 | 74623637 | 74623635 | 74623635 | Missense_Mutation | C | T | p.T590M |
| SW579_THYROID | 74625562 | 74625663 | 74625592 | 74625592 | Missense_Mutation | G | A | p.D250N |
| CGTHW1_THYROID | 74625562 | 74625663 | 74625592 | 74625592 | Missense_Mutation | G | A | p.D250N |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74625562 | 74625663 | 74625592 | 74625592 | Missense_Mutation | G | A | p.D250N |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74623544 | 74623637 | 74623583 | 74623583 | Nonsense_Mutation | C | T | p.Q573* |
| HCC1395_BREAST | 74573009 | 74573142 | 74573010 | 74573010 | Splice_Site | G | T | p.M297I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC33 |
| 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 CCDC33 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC33 |
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RelatedDrugs for CCDC33 |
| 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 CCDC33 |
| 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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