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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 CNTD2 |
Gene summary |
| Gene information | Gene symbol | CNTD2 | Gene ID | 79935 |
| Gene name | cyclin N-terminal domain containing 2 | |
| Synonyms | CCNP | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | cyclin N-terminal domain-containing protein 2cyclin P | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H8S5 | |
| Context | PubMed: CNTD2 [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 CNTD2 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 CNTD2 |
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 CNTD2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318603 | 19 | 40729294:40729453:40730394:40730550:40730628:40730718 | 40730394:40730550 | ENSG00000105219.4 | ENST00000513948.1,ENST00000430325.2 |
| exon_skip_318618 | 19 | 40729504:40729549:40730394:40730550:40732281:40732564 | 40730394:40730550 | ENSG00000105219.4 | ENST00000433940.1,ENST00000221818.1 |
| exon_skip_318636 | 19 | 40730394:40730550:40730628:40730718:40732281:40732564 | 40730628:40730718 | ENSG00000105219.4 | ENST00000430325.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CNTD2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318603 | 19 | 40729294:40729453:40730394:40730550:40730628:40730718 | 40730394:40730550 | ENSG00000105219.4 | ENST00000430325.2,ENST00000513948.1 |
| exon_skip_318618 | 19 | 40729504:40729549:40730394:40730550:40732281:40732564 | 40730394:40730550 | ENSG00000105219.4 | ENST00000221818.1,ENST00000433940.1 |
| exon_skip_318636 | 19 | 40730394:40730550:40730628:40730718:40732281:40732564 | 40730628:40730718 | ENSG00000105219.4 | ENST00000430325.2 |
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 CNTD2 |
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 |
| ENST00000430325 | 40730394 | 40730550 | In-frame |
| ENST00000430325 | 40730628 | 40730718 | In-frame |
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 |
| ENST00000430325 | 40730394 | 40730550 | In-frame |
| ENST00000430325 | 40730628 | 40730718 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNTD2 |
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 |
| ENST00000430325 | 1834 | 307 | 40730628 | 40730718 | 317 | 406 | 89 | 119 |
| ENST00000430325 | 1834 | 307 | 40730394 | 40730550 | 407 | 562 | 119 | 171 |
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 |
| ENST00000430325 | 1834 | 307 | 40730628 | 40730718 | 317 | 406 | 89 | 119 |
| ENST00000430325 | 1834 | 307 | 40730394 | 40730550 | 407 | 562 | 119 | 171 |
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 |
| Q9H8S5 | 89 | 119 | 90 | 119 | Alternative sequence | ID=VSP_044165;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H8S5 | 89 | 119 | 1 | 307 | Chain | ID=PRO_0000263704;Note=Cyclin N-terminal domain-containing protein 2 |
| Q9H8S5 | 89 | 119 | 102 | 203 | Domain | Note=Cyclin N-terminal |
| Q9H8S5 | 119 | 171 | 90 | 119 | Alternative sequence | ID=VSP_044165;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H8S5 | 119 | 171 | 1 | 307 | Chain | ID=PRO_0000263704;Note=Cyclin N-terminal domain-containing protein 2 |
| Q9H8S5 | 119 | 171 | 102 | 203 | Domain | Note=Cyclin N-terminal |
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 |
| Q9H8S5 | 89 | 119 | 90 | 119 | Alternative sequence | ID=VSP_044165;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H8S5 | 89 | 119 | 1 | 307 | Chain | ID=PRO_0000263704;Note=Cyclin N-terminal domain-containing protein 2 |
| Q9H8S5 | 89 | 119 | 102 | 203 | Domain | Note=Cyclin N-terminal |
| Q9H8S5 | 119 | 171 | 90 | 119 | Alternative sequence | ID=VSP_044165;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H8S5 | 119 | 171 | 1 | 307 | Chain | ID=PRO_0000263704;Note=Cyclin N-terminal domain-containing protein 2 |
| Q9H8S5 | 119 | 171 | 102 | 203 | Domain | Note=Cyclin N-terminal |
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SNVs in the skipped exons for CNTD2 |
- 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 |
| KICH | TCGA-KO-8405-01 | exon_skip_318636 | 40730629 | 40730718 | 40730638 | 40730639 | Frame_Shift_Ins | - | C | p.V116fs |
- 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 |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40730395 | 40730550 | 40730418 | 40730418 | Frame_Shift_Del | T | - | p.M164fs |
| SNUC2A_LARGE_INTESTINE | 40730395 | 40730550 | 40730418 | 40730418 | Frame_Shift_Del | T | - | p.M164fs |
| SNUC2B_LARGE_INTESTINE | 40730395 | 40730550 | 40730418 | 40730418 | Frame_Shift_Del | T | - | p.M164fs |
| COLO829_MATCHED_NORMAL_TISSUE | 40730395 | 40730550 | 40730426 | 40730426 | Missense_Mutation | G | A | p.A161V |
| JHOS4_OVARY | 40730395 | 40730550 | 40730471 | 40730471 | Missense_Mutation | C | G | p.R146P |
| OMC1_CERVIX | 40730395 | 40730550 | 40730508 | 40730508 | Missense_Mutation | G | A | p.H134Y |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40730629 | 40730718 | 40730685 | 40730685 | Missense_Mutation | G | A | p.R101C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNTD2 |
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 CNTD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNTD2 |
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RelatedDrugs for CNTD2 |
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 CNTD2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |