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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 CCND3 |
Gene summary |
| Gene information | Gene symbol | CCND3 | Gene ID | 896 |
| Gene name | cyclin D3 | |
| Synonyms | - | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | G1/S-specific cyclin-D3D3-type cyclin | |
| Modification date | 20180523 | |
| UniProtAcc | P30281 | |
| Context | PubMed: CCND3 [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 |
| CCND3 | GO:0001934 | positive regulation of protein phosphorylation | 8114739 |
| CCND3 | GO:0045737 | positive regulation of cyclin-dependent protein serine/threonine kinase activity | 8114739 |
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Exon skipping events across known transcript of Ensembl for CCND3 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 CCND3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CCND3 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459538 | 6 | 41903633:41903845:41904296:41904433:41904972:41905132 | 41904296:41904433 | ENSG00000112576.8 | ENST00000372991.4,ENST00000511642.1,ENST00000415497.2,ENST00000372987.4,ENST00000372988.4,ENST00000414200.2 |
| exon_skip_459540 | 6 | 41904972:41905132:41908107:41908323:41909189:41909191 | 41908107:41908323 | ENSG00000112576.8 | ENST00000512426.1 |
| exon_skip_459546 | 6 | 41904972:41905132:41908107:41908323:42016238:42016414 | 41908107:41908323 | ENSG00000112576.8 | ENST00000372988.4,ENST00000510503.1,ENST00000505672.1 |
| exon_skip_459547 | 6 | 41904972:41905132:41908107:41908323:42017388:42018095 | 41908107:41908323 | ENSG00000112576.8 | ENST00000511642.1 |
| exon_skip_459552 | 6 | 41904972:41905132:41997746:41997928:42016238:42016414 | 41997746:41997928 | ENSG00000112576.8 | ENST00000505884.1,ENST00000508143.1 |
| exon_skip_459555 | 6 | 41908231:41908323:41908689:41908899:42016238:42016426 | 41908689:41908899 | ENSG00000112576.8 | ENST00000514588.1 |
| exon_skip_459558 | 6 | 41908231:41908323:41997746:41997928:42016238:42016414 | 41997746:41997928 | ENSG00000112576.8 | ENST00000502771.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCND3 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459538 | 6 | 41903633:41903845:41904296:41904433:41904972:41905132 | 41904296:41904433 | ENSG00000112576.8 | ENST00000372991.4,ENST00000511642.1,ENST00000372987.4,ENST00000415497.2,ENST00000372988.4,ENST00000414200.2 |
| exon_skip_459540 | 6 | 41904972:41905132:41908107:41908323:41909189:41909191 | 41908107:41908323 | ENSG00000112576.8 | ENST00000512426.1 |
| exon_skip_459546 | 6 | 41904972:41905132:41908107:41908323:42016238:42016414 | 41908107:41908323 | ENSG00000112576.8 | ENST00000372988.4,ENST00000510503.1,ENST00000505672.1 |
| exon_skip_459547 | 6 | 41904972:41905132:41908107:41908323:42017388:42018095 | 41908107:41908323 | ENSG00000112576.8 | ENST00000511642.1 |
| exon_skip_459552 | 6 | 41904972:41905132:41997746:41997928:42016238:42016414 | 41997746:41997928 | ENSG00000112576.8 | ENST00000508143.1,ENST00000505884.1 |
| exon_skip_459555 | 6 | 41908231:41908323:41908689:41908899:42016238:42016426 | 41908689:41908899 | ENSG00000112576.8 | ENST00000514588.1 |
| exon_skip_459558 | 6 | 41908231:41908323:41997746:41997928:42016238:42016414 | 41997746:41997928 | ENSG00000112576.8 | ENST00000502771.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CCND3 |
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 |
| ENST00000372991 | 41904296 | 41904433 | Frame-shift |
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 |
| ENST00000372991 | 41904296 | 41904433 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CCND3 |
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 CCND3 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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_459546 exon_skip_459547 exon_skip_459540 | 41908108 | 41908323 | 41908153 | 41908153 | Frame_Shift_Del | T | - | p.K42fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_459555 | 41908690 | 41908899 | 41908694 | 41908694 | Frame_Shift_Del | G | - | p.P15fs |
- 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 |
| NCIH2135_LUNG | 41908108 | 41908323 | 41908148 | 41908149 | Frame_Shift_Del | CA | - | p.C125fs |
| EW16_BONE | 41908108 | 41908323 | 41908168 | 41908178 | Frame_Shift_Del | GGGCGTGGTCT | - | p.ETTP115fs |
| HCT15_LARGE_INTESTINE | 41904297 | 41904433 | 41904421 | 41904421 | Missense_Mutation | G | A | p.A196V |
| NCIH1688_LUNG | 41908108 | 41908323 | 41908157 | 41908157 | Missense_Mutation | T | C | p.E122G |
| WM1799_SKIN | 41908108 | 41908323 | 41908286 | 41908286 | Missense_Mutation | G | A | p.P79L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41908108 | 41908323 | 41908313 | 41908313 | Missense_Mutation | T | C | p.E70G |
| SNU1040_LARGE_INTESTINE | 41908108 | 41908323 | 41908109 | 41908109 | Splice_Site | C | T | p.R138Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCND3 |
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 CCND3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCND3 |
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RelatedDrugs for CCND3 |
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 CCND3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |