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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 CCND2 |
 Gene summary |
| Gene information | Gene symbol | CCND2 | Gene ID | 894 |
| Gene name | cyclin D2 | |
| Synonyms | KIAK0002|MPPH3 | |
| Cytomap | 12p13.32 | |
| Type of gene | protein-coding | |
| Description | G1/S-specific cyclin-D2 | |
| Modification date | 20180523 | |
| UniProtAcc | P30279 | |
| Context | PubMed: CCND2 [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 |
| CCND2 | GO:0001934 | positive regulation of protein phosphorylation | 8114739 |
| CCND2 | 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 CCND2 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 CCND2 |
| 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 CCND2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79250 | 12 | 4385229:4385386:4387925:4388085:4398007:4398156 | 4387925:4388085 | ENSG00000118971.3 | ENST00000261254.3 |
| exon_skip_79255 | 12 | 4387965:4388085:4398007:4398156:4409025:4414516 | 4398007:4398156 | ENSG00000118971.3 | ENST00000261254.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCND2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79250 | 12 | 4385229:4385386:4387925:4388085:4398007:4398156 | 4387925:4388085 | ENSG00000118971.3 | ENST00000261254.3 |
| exon_skip_79255 | 12 | 4387965:4388085:4398007:4398156:4409025:4414516 | 4398007:4398156 | ENSG00000118971.3 | ENST00000261254.3 |
| 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 CCND2 |
| 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 |
| ENST00000261254 | 4387925 | 4388085 | Frame-shift |
| ENST00000261254 | 4398007 | 4398156 | 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 |
| ENST00000261254 | 4387925 | 4388085 | Frame-shift |
| ENST00000261254 | 4398007 | 4398156 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CCND2 |
| 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 CCND2 |
| - 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 |
| HNSC | TCGA-F7-A624-01 | exon_skip_79255 | 4398008 | 4398156 | 4398027 | 4398027 | Nonsense_Mutation | C | G | p.Y197* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_79250 | 4387926 | 4388085 | 4387925 | 4387925 | Splice_Site | G | A | . |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_79255 | 4398008 | 4398156 | 4398007 | 4398007 | Splice_Site | G | T | e4-1 |
| - 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 |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4387926 | 4388085 | 4387950 | 4387950 | Missense_Mutation | A | G | p.K146E |
| 2313287_STOMACH | 4387926 | 4388085 | 4387984 | 4387984 | Missense_Mutation | A | G | p.H157R |
| NCIH250_LUNG | 4387926 | 4388085 | 4388006 | 4388006 | Missense_Mutation | G | T | p.L164F |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4387926 | 4388085 | 4388007 | 4388007 | Missense_Mutation | C | T | p.R165C |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 4387926 | 4388085 | 4388034 | 4388034 | Missense_Mutation | C | G | p.L174V |
| LB1047EBV_MATCHED_NORMAL_TISSUE | 4398008 | 4398156 | 4398046 | 4398046 | Missense_Mutation | A | G | p.T204A |
| LB1047RCC_KIDNEY | 4398008 | 4398156 | 4398046 | 4398046 | Missense_Mutation | A | G | p.T204A |
| NCIH1435_LUNG | 4398008 | 4398156 | 4398073 | 4398073 | Missense_Mutation | G | T | p.G213W |
| IMR5_AUTONOMIC_GANGLIA | 4398008 | 4398156 | 4398076 | 4398076 | Missense_Mutation | C | A | p.L214I |
| IMR32_AUTONOMIC_GANGLIA | 4398008 | 4398156 | 4398076 | 4398076 | Missense_Mutation | C | A | p.L214I |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 4398008 | 4398156 | 4398137 | 4398137 | Missense_Mutation | A | G | p.K234R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCND2 |
| 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 CCND2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCND2 |
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RelatedDrugs for CCND2 |
| 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 CCND2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CCND2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| CCND2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| CCND2 | C0016059 | Fibrosis | 1 | CTD_human |
| CCND2 | C0018800 | Cardiomegaly | 1 | CTD_human |
| CCND2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| CCND2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CCND2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| CCND2 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| CCND2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| CCND2 | C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 1 | CTD_human |
| CCND2 | C1879677 | Alcohol Toxicity | 1 | PSYGENET |
| CCND2 | C4014742 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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