|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for CCND1 |
 Gene summary |
| Gene information | Gene symbol | CCND1 | Gene ID | 595 |
| Gene name | cyclin D1 | |
| Synonyms | BCL1|D11S287E|PRAD1|U21B31 | |
| Cytomap | 11q13.3 | |
| Type of gene | protein-coding | |
| Description | G1/S-specific cyclin-D1B-cell CLL/lymphoma 1B-cell lymphoma 1 proteinBCL-1 oncogenePRAD1 oncogene | |
| Modification date | 20180527 | |
| UniProtAcc | P24385 | |
| Context | PubMed: CCND1 [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 |
| CCND1 | GO:0000082 | G1/S transition of mitotic cell cycle | 19412162 |
| CCND1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16569215|18417529 |
| CCND1 | GO:0001934 | positive regulation of protein phosphorylation | 8114739 |
| CCND1 | GO:0006974 | cellular response to DNA damage stimulus | 19412162 |
| CCND1 | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | 19124461 |
| CCND1 | GO:0031571 | mitotic G1 DNA damage checkpoint | 19412162 |
| CCND1 | GO:0044321 | response to leptin | 17344214 |
| CCND1 | GO:0045737 | positive regulation of cyclin-dependent protein serine/threonine kinase activity | 8114739 |
| CCND1 | GO:0070141 | response to UV-A | 18483258 |
| CCND1 | GO:0071157 | negative regulation of cell cycle arrest | 19124461 |
Top |
Exon skipping events across known transcript of Ensembl for CCND1 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. |
 |
Top |
Gene isoform structures and expression levels for CCND1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CCND1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_62685 | 11 | 69455998:69456279:69457798:69458014:69458599:69458759 | 69457798:69458014 | ENSG00000110092.3 | ENST00000539241.1 |
| exon_skip_62691 | 11 | 69457798:69458014:69458599:69458759:69462761:69462910 | 69458599:69458759 | ENSG00000110092.3 | ENST00000227507.2 |
| exon_skip_62694 | 11 | 69458599:69458759:69462761:69462910:69465885:69466175 | 69462761:69462910 | ENSG00000110092.3 | ENST00000227507.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CCND1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_62685 | 11 | 69455998:69456279:69457798:69458014:69458599:69458759 | 69457798:69458014 | ENSG00000110092.3 | ENST00000539241.1 |
| exon_skip_62691 | 11 | 69457798:69458014:69458599:69458759:69462761:69462910 | 69458599:69458759 | ENSG00000110092.3 | ENST00000227507.2 |
| exon_skip_62694 | 11 | 69458599:69458759:69462761:69462910:69465885:69466175 | 69462761:69462910 | ENSG00000110092.3 | ENST00000227507.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CCND1 |
| 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 |
| ENST00000227507 | 69458599 | 69458759 | Frame-shift |
| ENST00000227507 | 69462761 | 69462910 | 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 |
| ENST00000227507 | 69458599 | 69458759 | Frame-shift |
| ENST00000227507 | 69462761 | 69462910 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for CCND1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
Top |
SNVs in the skipped exons for CCND1 |
| - 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-DD-A39Y-01 | 69458600 | 69458759 | 69458617 | 69458617 | Frame_Shift_Del | G | - | p.L144fs |
| - 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 |
| TOV21G_OVARY | 69457799 | 69458014 | 69457951 | 69457951 | Frame_Shift_Del | C | - | p.I117fs |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69457799 | 69458014 | 69457880 | 69457880 | Missense_Mutation | G | C | p.V94L |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69457799 | 69458014 | 69457950 | 69457950 | Missense_Mutation | T | C | p.I117T |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 69457799 | 69458014 | 69457964 | 69457964 | Missense_Mutation | G | A | p.E122K |
| HEC50B_ENDOMETRIUM | 69458600 | 69458759 | 69458610 | 69458610 | Missense_Mutation | T | A | p.L142Q |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69458600 | 69458759 | 69458659 | 69458659 | Missense_Mutation | C | A | p.H158Q |
| HEC108_ENDOMETRIUM | 69458600 | 69458759 | 69458688 | 69458688 | Missense_Mutation | T | C | p.M168T |
| SISO_CERVIX | 69462762 | 69462910 | 69462786 | 69462786 | Missense_Mutation | C | T | p.P200L |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69462762 | 69462910 | 69462786 | 69462786 | Missense_Mutation | C | T | p.P200L |
| VCAP_PROSTATE | 69462762 | 69462910 | 69462843 | 69462843 | Missense_Mutation | G | A | p.S219N |
| HRT18_LARGE_INTESTINE | 69462762 | 69462910 | 69462849 | 69462849 | Missense_Mutation | A | G | p.N221S |
| SNU1040_LARGE_INTESTINE | 69462762 | 69462910 | 69462878 | 69462878 | Missense_Mutation | C | T | p.R231C |
| LOXIMVI_SKIN | 69462762 | 69462910 | 69462905 | 69462905 | Missense_Mutation | G | C | p.D240H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCND1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCND1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCND1 |
Top |
RelatedDrugs for CCND1 |
| 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 |
| P24385 | DB01169 | Arsenic trioxide | G1/S-specific cyclin-D1 | small molecule | approved|investigational | |
| P24385 | DB11718 | Encorafenib | G1/S-specific cyclin-D1 | small molecule | approved|investigational |
Top |
RelatedDiseases for CCND1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CCND1 | C1458155 | Mammary Neoplasms | 6 | CTD_human |
| CCND1 | C2239176 | Liver carcinoma | 5 | CTD_human |
| CCND1 | C0009375 | Colonic Neoplasms | 4 | CTD_human |
| CCND1 | C0024667 | Animal Mammary Neoplasms | 4 | CTD_human |
| CCND1 | C0024668 | Mammary Neoplasms, Experimental | 3 | CTD_human |
| CCND1 | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
| CCND1 | C0020507 | Hyperplasia | 2 | CTD_human |
| CCND1 | C0024121 | Lung Neoplasms | 2 | CTD_human |
| CCND1 | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 2 | CTD_human;ORPHANET |
| CCND1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| CCND1 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| CCND1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| CCND1 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| CCND1 | C0007528 | Cecal Neoplasms | 1 | CTD_human |
| CCND1 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| CCND1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| CCND1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| CCND1 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| CCND1 | C0020502 | Hyperparathyroidism | 1 | CTD_human |
| CCND1 | C0021846 | Intestinal Polyps | 1 | CTD_human |
| CCND1 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| CCND1 | C0023418 | leukemia | 1 | CTD_human |
| CCND1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| CCND1 | C0026764 | Multiple Myeloma | 1 | CTD_human;ORPHANET |
| CCND1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| CCND1 | C0030354 | Papilloma | 1 | CTD_human |
| CCND1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| CCND1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CCND1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| CCND1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| CCND1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| CCND1 | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| CCND1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| CCND1 | C0042076 | Urologic Neoplasms | 1 | CTD_human |
| CCND1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| CCND1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| CCND1 | C0919532 | Genomic Instability | 1 | CTD_human |
| CCND1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| CCND1 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|