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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 COPB1 |
 Gene summary |
| Gene information | Gene symbol | COPB1 | Gene ID | 1315 |
| Gene name | coatomer protein complex subunit beta 1 | |
| Synonyms | COPB | |
| Cytomap | 11p15.2 | |
| Type of gene | protein-coding | |
| Description | coatomer subunit betabeta coat proteinbeta-cop | |
| Modification date | 20180523 | |
| UniProtAcc | P53618 | |
| Context | PubMed: COPB1 [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 COPB1 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 COPB1 |
| 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 COPB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69343 | 11 | 14480077:14480233:14481753:14481843:14482731:14482768 | 14481753:14481843 | ENSG00000129083.8 | ENST00000249923.3,ENST00000525214.1,ENST00000439561.2 |
| exon_skip_69346 | 11 | 14487827:14487972:14490226:14490406:14490881:14491109 | 14490226:14490406 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69349 | 11 | 14490226:14490406:14490881:14491109:14496040:14496161 | 14490881:14491109 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69351 | 11 | 14496040:14496161:14497330:14497491:14498464:14498561 | 14497330:14497491 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69354 | 11 | 14498464:14498561:14501114:14501260:14502304:14502451 | 14501114:14501260 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2,ENST00000534234.1 |
| exon_skip_69357 | 11 | 14501114:14501260:14502304:14502451:14502535:14502643 | 14502304:14502451 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2,ENST00000534234.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COPB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69342 | 11 | 14473380:14473482:14474770:14474851:14479329:14479429 | 14474770:14474851 | ENSG00000129083.8 | ENST00000525214.1 |
| exon_skip_69343 | 11 | 14480077:14480233:14481753:14481843:14482731:14482768 | 14481753:14481843 | ENSG00000129083.8 | ENST00000525214.1,ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69346 | 11 | 14487827:14487972:14490226:14490406:14490881:14491109 | 14490226:14490406 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69349 | 11 | 14490226:14490406:14490881:14491109:14496040:14496161 | 14490881:14491109 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69351 | 11 | 14496040:14496161:14497330:14497491:14498464:14498561 | 14497330:14497491 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2 |
| exon_skip_69354 | 11 | 14498464:14498561:14501114:14501260:14502304:14502451 | 14501114:14501260 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2,ENST00000534234.1 |
| exon_skip_69357 | 11 | 14501114:14501260:14502304:14502451:14502535:14502643 | 14502304:14502451 | ENSG00000129083.8 | ENST00000249923.3,ENST00000439561.2,ENST00000534234.1 |
| 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 COPB1 |
| 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 |
| ENST00000249923 | 14497330 | 14497491 | Frame-shift |
| ENST00000439561 | 14497330 | 14497491 | Frame-shift |
| ENST00000249923 | 14501114 | 14501260 | Frame-shift |
| ENST00000439561 | 14501114 | 14501260 | Frame-shift |
| ENST00000249923 | 14481753 | 14481843 | In-frame |
| ENST00000439561 | 14481753 | 14481843 | In-frame |
| ENST00000249923 | 14490226 | 14490406 | In-frame |
| ENST00000439561 | 14490226 | 14490406 | In-frame |
| ENST00000249923 | 14490881 | 14491109 | In-frame |
| ENST00000439561 | 14490881 | 14491109 | In-frame |
| ENST00000249923 | 14502304 | 14502451 | In-frame |
| ENST00000439561 | 14502304 | 14502451 | 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 |
| ENST00000249923 | 14497330 | 14497491 | Frame-shift |
| ENST00000439561 | 14497330 | 14497491 | Frame-shift |
| ENST00000249923 | 14501114 | 14501260 | Frame-shift |
| ENST00000439561 | 14501114 | 14501260 | Frame-shift |
| ENST00000249923 | 14481753 | 14481843 | In-frame |
| ENST00000439561 | 14481753 | 14481843 | In-frame |
| ENST00000249923 | 14490226 | 14490406 | In-frame |
| ENST00000439561 | 14490226 | 14490406 | In-frame |
| ENST00000249923 | 14490881 | 14491109 | In-frame |
| ENST00000439561 | 14490881 | 14491109 | In-frame |
| ENST00000249923 | 14502304 | 14502451 | In-frame |
| ENST00000439561 | 14502304 | 14502451 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COPB1 |
| 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 |
| ENST00000249923 | 3498 | 953 | 14502304 | 14502451 | 1367 | 1513 | 355 | 404 |
| ENST00000439561 | 3399 | 953 | 14502304 | 14502451 | 1312 | 1458 | 355 | 404 |
| ENST00000249923 | 3498 | 953 | 14490881 | 14491109 | 2039 | 2266 | 579 | 655 |
| ENST00000439561 | 3399 | 953 | 14490881 | 14491109 | 1984 | 2211 | 579 | 655 |
| ENST00000249923 | 3498 | 953 | 14490226 | 14490406 | 2267 | 2446 | 655 | 715 |
| ENST00000439561 | 3399 | 953 | 14490226 | 14490406 | 2212 | 2391 | 655 | 715 |
| ENST00000249923 | 3498 | 953 | 14481753 | 14481843 | 2858 | 2947 | 852 | 882 |
| ENST00000439561 | 3399 | 953 | 14481753 | 14481843 | 2803 | 2892 | 852 | 882 |
| 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 |
| ENST00000249923 | 3498 | 953 | 14502304 | 14502451 | 1367 | 1513 | 355 | 404 |
| ENST00000439561 | 3399 | 953 | 14502304 | 14502451 | 1312 | 1458 | 355 | 404 |
| ENST00000249923 | 3498 | 953 | 14490881 | 14491109 | 2039 | 2266 | 579 | 655 |
| ENST00000439561 | 3399 | 953 | 14490881 | 14491109 | 1984 | 2211 | 579 | 655 |
| ENST00000249923 | 3498 | 953 | 14490226 | 14490406 | 2267 | 2446 | 655 | 715 |
| ENST00000439561 | 3399 | 953 | 14490226 | 14490406 | 2212 | 2391 | 655 | 715 |
| ENST00000249923 | 3498 | 953 | 14481753 | 14481843 | 2858 | 2947 | 852 | 882 |
| ENST00000439561 | 3399 | 953 | 14481753 | 14481843 | 2803 | 2892 | 852 | 882 |
| 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 |
| P53618 | 355 | 404 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 355 | 404 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 355 | 404 | 396 | 433 | Repeat | Note=HEAT 6 |
| P53618 | 355 | 404 | 396 | 433 | Repeat | Note=HEAT 6 |
| P53618 | 579 | 655 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 579 | 655 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 655 | 715 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 655 | 715 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 852 | 882 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 852 | 882 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| 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 |
| P53618 | 355 | 404 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 355 | 404 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 355 | 404 | 396 | 433 | Repeat | Note=HEAT 6 |
| P53618 | 355 | 404 | 396 | 433 | Repeat | Note=HEAT 6 |
| P53618 | 579 | 655 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 579 | 655 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 655 | 715 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 655 | 715 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 852 | 882 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
| P53618 | 852 | 882 | 2 | 953 | Chain | ID=PRO_0000193833;Note=Coatomer subunit beta |
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SNVs in the skipped exons for COPB1 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69351 | 14497331 | 14497491 | 14497444 | 14497444 | Frame_Shift_Del | T | - | p.K501fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_69357 | 14502305 | 14502451 | 14502414 | 14502414 | Frame_Shift_Del | T | - | p.N369fs |
| HNSC | TCGA-CV-5970-01 | exon_skip_69346 | 14490227 | 14490406 | 14490304 | 14490304 | Nonsense_Mutation | G | A | p.Q690* |
| - 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 |
| MFE296_ENDOMETRIUM | 14490227 | 14490406 | 14490277 | 14490277 | Missense_Mutation | T | C | p.N699D |
| NCIH1299_LUNG | 14490227 | 14490406 | 14490349 | 14490349 | Missense_Mutation | G | C | p.Q675E |
| 22RV1_PROSTATE | 14490227 | 14490406 | 14490390 | 14490390 | Missense_Mutation | C | A | p.R661M |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14490882 | 14491109 | 14490976 | 14490976 | Missense_Mutation | G | A | p.S624L |
| ESS1_ENDOMETRIUM | 14490882 | 14491109 | 14491006 | 14491006 | Missense_Mutation | G | A | p.S614F |
| NCIH2087_LUNG | 14497331 | 14497491 | 14497358 | 14497358 | Missense_Mutation | G | C | p.S530C |
| PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT | 14497331 | 14497491 | 14497407 | 14497407 | Missense_Mutation | A | T | p.L514M |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14501115 | 14501260 | 14501125 | 14501125 | Missense_Mutation | T | G | p.K450Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 14501115 | 14501260 | 14501238 | 14501238 | Missense_Mutation | T | C | p.N412S |
| SNU1105_CENTRAL_NERVOUS_SYSTEM | 14501115 | 14501260 | 14501242 | 14501242 | Missense_Mutation | C | G | p.D411H |
| TTC1240_SOFT_TISSUE | 14502305 | 14502451 | 14502328 | 14502328 | Missense_Mutation | T | C | p.M397V |
| NCIH524_LUNG | 14502305 | 14502451 | 14502442 | 14502442 | Missense_Mutation | C | A | p.V359F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COPB1 |
| 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 COPB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COPB1 |
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RelatedDrugs for COPB1 |
| 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 COPB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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