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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 CBX5 |
 Gene summary |
| Gene information | Gene symbol | CBX5 | Gene ID | 23468 |
| Gene name | chromobox 5 | |
| Synonyms | HEL25|HP1|HP1A | |
| Cytomap | 12q13.13 | |
| Type of gene | protein-coding | |
| Description | chromobox protein homolog 5HP1 alpha homologHP1-ALPHAHP1Hs alphaantigen p25chromobox homolog 5 (HP1 alpha homolog, Drosophila)epididymis luminal protein 25heterochromatin protein 1 homolog alphaheterochromatin protein 1-alpha | |
| Modification date | 20180519 | |
| UniProtAcc | P45973 | |
| Context | PubMed: CBX5 [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 |
| CBX5 | GO:0045892 | negative regulation of transcription, DNA-templated | 9636147 |
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Exon skipping events across known transcript of Ensembl for CBX5 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 CBX5 |
| 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 CBX5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_92980 | 12 | 54635538:54635689:54639898:54639999:54645824:54646011 | 54639898:54639999 | ENSG00000094916.9 | ENST00000439541.2,ENST00000547872.1,ENST00000550411.1,ENST00000209875.4 |
| exon_skip_92984 | 12 | 54639898:54639999:54645824:54646011:54651297:54651476 | 54645824:54646011 | ENSG00000094916.9 | ENST00000439541.2,ENST00000550411.1,ENST00000209875.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CBX5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_92980 | 12 | 54635538:54635689:54639898:54639999:54645824:54646011 | 54639898:54639999 | ENSG00000094916.9 | ENST00000209875.4,ENST00000439541.2,ENST00000547872.1,ENST00000550411.1 |
| exon_skip_92984 | 12 | 54639898:54639999:54645824:54646011:54651297:54651476 | 54645824:54646011 | ENSG00000094916.9 | ENST00000209875.4,ENST00000439541.2,ENST00000550411.1 |
| 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 CBX5 |
| 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 |
| ENST00000209875 | 54639898 | 54639999 | Frame-shift |
| ENST00000439541 | 54639898 | 54639999 | Frame-shift |
| ENST00000550411 | 54639898 | 54639999 | Frame-shift |
| ENST00000209875 | 54645824 | 54646011 | Frame-shift |
| ENST00000439541 | 54645824 | 54646011 | Frame-shift |
| ENST00000550411 | 54645824 | 54646011 | 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 |
| ENST00000209875 | 54639898 | 54639999 | Frame-shift |
| ENST00000439541 | 54639898 | 54639999 | Frame-shift |
| ENST00000550411 | 54639898 | 54639999 | Frame-shift |
| ENST00000209875 | 54645824 | 54646011 | Frame-shift |
| ENST00000439541 | 54645824 | 54646011 | Frame-shift |
| ENST00000550411 | 54645824 | 54646011 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CBX5 |
| 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 CBX5 |
| - 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. |
CBX5_LUAD_exon_skip_92984_psi_boxplot.png |
CBX5_UCEC_exon_skip_92984_psi_boxplot.png |
| - 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 |
| ACC | TCGA-OR-A5LB-01 | exon_skip_92984 | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| KIRC | TCGA-B2-5635-01 | exon_skip_92984 | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| LIHC | TCGA-G3-A25Y-01 | exon_skip_92984 | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_92984 | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_92984 | 54645825 | 54646011 | 54645831 | 54645832 | Frame_Shift_Ins | - | T | p.K106fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_92984 | 54645825 | 54646011 | 54645888 | 54645889 | Frame_Shift_Ins | - | T | p.S87fs |
| UCS | TCGA-N8-A4PI-01 | exon_skip_92984 | 54645825 | 54646011 | 54645939 | 54645939 | Nonsense_Mutation | A | T | p.Y70* |
| UCS | TCGA-N8-A4PI-01 | exon_skip_92984 | 54645825 | 54646011 | 54645939 | 54645939 | Nonsense_Mutation | A | T | p.Y70X |
| LUAD | TCGA-44-7659-01 | exon_skip_92984 | 54645825 | 54646011 | 54645824 | 54645824 | Splice_Site | C | T | p.E108_splice |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_92984 | 54645825 | 54646011 | 54645824 | 54645825 | Splice_Site | - | CT | p.E108_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-44-7659-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_92984 | |
| Skipped exon start: 54645825 | |
| Skipped exon end: 54646011 | |
| Mutation start: 54645824 | |
| Mutation end: 54645824 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.E108_splice | |
exon_skip_92984_LUAD_TCGA-44-7659-01.png | |
 | Sample: TCGA-AP-A0LH-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_92984 | |
| Skipped exon start: 54645825 | |
| Skipped exon end: 54646011 | |
| Mutation start: 54645888 | |
| Mutation end: 54645889 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.S87fs | |
exon_skip_304690_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_304691_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_453156_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_49506_UCEC_TCGA-AP-A0LH-01.png | |
exon_skip_92984_UCEC_TCGA-AP-A0LH-01.png | |
 | Sample: TCGA-D1-A163-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_92984 | |
| Skipped exon start: 54645825 | |
| Skipped exon end: 54646011 | |
| Mutation start: 54645831 | |
| Mutation end: 54645832 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.K106fs | |
exon_skip_110606_UCEC_TCGA-D1-A163-01.png | |
exon_skip_370065_UCEC_TCGA-D1-A163-01.png | |
exon_skip_442649_UCEC_TCGA-D1-A163-01.png | |
exon_skip_92984_UCEC_TCGA-D1-A163-01.png | |
| - 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 |
| DV90_LUNG | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| GP2D_LARGE_INTESTINE | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| IGROV1_OVARY | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| EN_ENDOMETRIUM | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| GP5D_LARGE_INTESTINE | 54645825 | 54646011 | 54645832 | 54645832 | Frame_Shift_Del | T | - | p.K106fs |
| CW2_LARGE_INTESTINE | 54645825 | 54646011 | 54645831 | 54645832 | Frame_Shift_Ins | - | T | p.K106fs |
| BICR78_UPPER_AERODIGESTIVE_TRACT | 54645825 | 54646011 | 54645841 | 54645842 | Missense_Mutation | GA | TT | p.S103N |
| C10_LARGE_INTESTINE | 54645825 | 54646011 | 54645841 | 54645841 | Missense_Mutation | G | T | p.S103Y |
| SCLC22H_LUNG | 54645825 | 54646011 | 54645841 | 54645841 | Missense_Mutation | G | T | p.S103Y |
| SKES1_BONE | 54645825 | 54646011 | 54645841 | 54645841 | Missense_Mutation | G | T | p.S103Y |
| CCLFPEDS0008T_SOFT_TISSUE | 54645825 | 54646011 | 54645842 | 54645842 | Missense_Mutation | A | T | p.S103T |
| BT474_BREAST | 54645825 | 54646011 | 54645847 | 54645847 | Missense_Mutation | A | G | p.I101T |
| HEC1B_ENDOMETRIUM | 54645825 | 54646011 | 54645970 | 54645970 | Missense_Mutation | G | T | p.P60H |
| HT115_LARGE_INTESTINE | 54645825 | 54646011 | 54645985 | 54645985 | Missense_Mutation | T | G | p.K55T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CBX5 |
| 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 CBX5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CBX5 |
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RelatedDrugs for CBX5 |
| 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 CBX5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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