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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 CBX1 |
 Gene summary |
| Gene information | Gene symbol | CBX1 | Gene ID | 10951 |
| Gene name | chromobox 1 | |
| Synonyms | CBX|HP1-BETA|HP1Hs-beta|HP1Hsbeta|M31|MOD1|p25beta | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | chromobox protein homolog 1HP1 beta homologchromobox homolog 1 (HP1 beta homolog Drosophila )heterochromatin protein 1 homolog betaheterochromatin protein 1-betaheterochromatin protein p25 betamodifier 1 protein | |
| Modification date | 20180522 | |
| UniProtAcc | P83916 | |
| Context | PubMed: CBX1 [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 CBX1 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 CBX1 |
| 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 CBX1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291052 | 17 | 46152450:46152462:46153350:46153540:46154226:46154400 | 46153350:46153540 | ENSG00000108468.10 | ENST00000402583.1 |
| exon_skip_291054 | 17 | 46152450:46152462:46153362:46153540:46154226:46154400 | 46153362:46153540 | ENSG00000108468.10 | ENST00000495350.1,ENST00000581003.1,ENST00000225603.4,ENST00000444685.1,ENST00000393408.3 |
| exon_skip_291065 | 17 | 46153362:46153540:46154226:46154403:46178629:46178649 | 46154226:46154403 | ENSG00000108468.10 | ENST00000495350.1,ENST00000225603.4,ENST00000402583.1 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENSG00000108468.10 | ENST00000581003.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CBX1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291052 | 17 | 46152450:46152462:46153350:46153540:46154226:46154400 | 46153350:46153540 | ENSG00000108468.10 | ENST00000402583.1 |
| exon_skip_291054 | 17 | 46152450:46152462:46153362:46153540:46154226:46154400 | 46153362:46153540 | ENSG00000108468.10 | ENST00000393408.3,ENST00000225603.4,ENST00000581003.1,ENST00000495350.1,ENST00000444685.1 |
| exon_skip_291065 | 17 | 46153362:46153540:46154226:46154403:46178629:46178649 | 46154226:46154403 | ENSG00000108468.10 | ENST00000225603.4,ENST00000402583.1,ENST00000495350.1 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENSG00000108468.10 | ENST00000581003.1 |
| 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 CBX1 |
| 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 |
| ENST00000225603 | 46154226 | 46154403 | 3UTR-3CDS |
| ENST00000225603 | 46153362 | 46153540 | Frame-shift |
| ENST00000393408 | 46153362 | 46153540 | 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 |
| ENST00000225603 | 46154226 | 46154403 | 3UTR-3CDS |
| ENST00000225603 | 46153362 | 46153540 | Frame-shift |
| ENST00000393408 | 46153362 | 46153540 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CBX1 |
| 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 CBX1 |
| - 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. |
CBX1_COAD_exon_skip_291065_psi_boxplot.png |
CBX1_STAD_exon_skip_291065_psi_boxplot.png |
CBX1_TGCT_exon_skip_291065_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 |
| COAD | TCGA-AA-3663-01 | exon_skip_291065 | 46154227 | 46154403 | 46154355 | 46154355 | Frame_Shift_Del | T | - | p.Q5fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_291065 | 46154227 | 46154403 | 46154355 | 46154355 | Frame_Shift_Del | T | - | p.K4fs |
| STAD | TCGA-CG-5733-01 | exon_skip_291065 | 46154227 | 46154403 | 46154355 | 46154355 | Frame_Shift_Del | T | - | p.Q5fs |
| HNSC | TCGA-CV-7101-01 | exon_skip_291052 exon_skip_291054 | 46153351 | 46153540 | 46153470 | 46153470 | Nonsense_Mutation | G | A | p.Q71* |
| HNSC | TCGA-CV-7101-01 | exon_skip_291052 exon_skip_291054 | 46153363 | 46153540 | 46153470 | 46153470 | Nonsense_Mutation | G | A | p.Q71* |
| TGCT | TCGA-2G-AALG-01 | exon_skip_291065 | 46154227 | 46154403 | 46154242 | 46154242 | Nonsense_Mutation | C | T | p.W42* |
| TGCT | TCGA-2G-AALG-01 | exon_skip_291065 | 46154227 | 46154403 | 46154242 | 46154242 | Nonsense_Mutation | C | T | p.W42X |
| STAD | TCGA-HU-A4H3-01 | exon_skip_291065 | 46154227 | 46154403 | 46154279 | 46154279 | Nonsense_Mutation | G | A | p.R30* |
| STAD | TCGA-HU-A4H3-01 | exon_skip_291065 | 46154227 | 46154403 | 46154279 | 46154279 | Nonsense_Mutation | G | A | p.R30X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-2G-AALG-01 |
| Cancer type: TGCT | |
| ESID: exon_skip_291065 | |
| Skipped exon start: 46154227 | |
| Skipped exon end: 46154403 | |
| Mutation start: 46154242 | |
| Mutation end: 46154242 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W42X | |
| Sample: TCGA-2G-AALG-01 |
| Cancer type: TGCT | |
| ESID: exon_skip_291065 | |
| Skipped exon start: 46154227 | |
| Skipped exon end: 46154403 | |
| Mutation start: 46154242 | |
| Mutation end: 46154242 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W42* | |
exon_skip_291065_TGCT_TCGA-2G-AALG-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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46154227 | 46154403 | 46154354 | 46154355 | Frame_Shift_Ins | - | T | p.Q5fs |
| TUHR14TKB_KIDNEY | 46154227 | 46154403 | 46154354 | 46154355 | Frame_Shift_Ins | - | T | p.Q5fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46154227 | 46154403 | 46154230 | 46154230 | Missense_Mutation | G | A | p.S46L |
| JHUEM7_ENDOMETRIUM | 46154227 | 46154403 | 46154232 | 46154232 | Missense_Mutation | G | T | p.F45L |
| NB10_AUTONOMIC_GANGLIA | 46154227 | 46154403 | 46154278 | 46154278 | Missense_Mutation | C | T | p.R30Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CBX1 |
| 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 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENST00000581003.1 | BLCA | rs6504024 | chr17:46165586 | T/C | 1.27e-04 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENST00000581003.1 | BLCA | rs6504024 | chr17:46165586 | T/C | 1.79e-03 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENST00000581003.1 | LGG | rs6504024 | chr17:46165586 | T/C | 5.11e-04 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENST00000581003.1 | LGG | rs6504024 | chr17:46165586 | T/C | 5.11e-04 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENST00000581003.1 | SARC | rs6504024 | chr17:46165586 | T/C | 2.10e-04 |
| exon_skip_291068 | 17 | 46154226:46154403:46165527:46165669:46178629:46178649 | 46165527:46165669 | ENST00000581003.1 | SARC | rs6504024 | chr17:46165586 | T/C | 2.10e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CBX1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CBX1 |
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RelatedDrugs for CBX1 |
| 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 CBX1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CBX1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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