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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 CREB1 |
 Gene summary |
| Gene information | Gene symbol | CREB1 | Gene ID | 1385 |
| Gene name | cAMP responsive element binding protein 1 | |
| Synonyms | CREB|CREB-1 | |
| Cytomap | 2q33.3 | |
| Type of gene | protein-coding | |
| Description | cyclic AMP-responsive element-binding protein 1active transcription factor CREBcAMP-response element-binding protein-1cyclic adenosine 3',5'-monophosphate response element binding proteincyclic adenosine 3',5'-monophosphate response element-binding pr | |
| Modification date | 20180523 | |
| UniProtAcc | P16220 | |
| Context | PubMed: CREB1 [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 |
| CREB1 | GO:0006468 | protein phosphorylation | 8798441 |
| CREB1 | GO:0010033 | response to organic substance | 8798441 |
| CREB1 | GO:0010944 | negative regulation of transcription by competitive promoter binding | 19861239 |
| CREB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 1655749|8798441|19861239 |
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Exon skipping events across known transcript of Ensembl for CREB1 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 CREB1 |
| 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 CREB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332832 | 2 | 208394646:208394742:208420351:208420473:208424949:208425072 | 208420351:208420473 | ENSG00000118260.10 | ENST00000445803.1 |
| exon_skip_332835 | 2 | 208394827:208394858:208420351:208420473:208424949:208425072 | 208420351:208420473 | ENSG00000118260.10 | ENST00000536726.1,ENST00000353267.3,ENST00000494094.1,ENST00000432329.2,ENST00000374397.4 |
| exon_skip_332836 | 2 | 208394827:208394858:208424949:208425096:208432186:208432280 | 208424949:208425096 | ENSG00000118260.10 | ENST00000421139.1 |
| exon_skip_332839 | 2 | 208425037:208425096:208425842:208425884:208432186:208432280 | 208425842:208425884 | ENSG00000118260.10 | ENST00000457101.1,ENST00000432329.2,ENST00000445803.1,ENST00000418081.1,ENST00000374397.4,ENST00000539789.1,ENST00000452474.1 |
| exon_skip_332842 | 2 | 208434902:208435045:208436457:208436582:208439995:208440178 | 208436457:208436582 | ENSG00000118260.10 | ENST00000539789.1 |
| exon_skip_332843 | 2 | 208434902:208435045:208439995:208440178:208442228:208442355 | 208439995:208440178 | ENSG00000118260.10 | ENST00000353267.3,ENST00000430624.1,ENST00000432329.2,ENST00000448277.1 |
| exon_skip_332846 | 2 | 208440009:208440178:208441354:208441417:208441833:208441924 | 208441354:208441417 | ENSG00000118260.10 | ENST00000418081.1,ENST00000539789.1 |
| exon_skip_332850 | 2 | 208441359:208441417:208441833:208441948:208442228:208442355 | 208441833:208441948 | ENSG00000118260.10 | ENST00000418081.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CREB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332835 | 2 | 208394827:208394858:208420351:208420473:208424949:208425072 | 208420351:208420473 | ENSG00000118260.10 | ENST00000432329.2,ENST00000353267.3,ENST00000536726.1,ENST00000494094.1,ENST00000374397.4 |
| exon_skip_332839 | 2 | 208425037:208425096:208425842:208425884:208432186:208432280 | 208425842:208425884 | ENSG00000118260.10 | ENST00000432329.2,ENST00000445803.1,ENST00000374397.4,ENST00000452474.1,ENST00000539789.1,ENST00000457101.1,ENST00000418081.1 |
| exon_skip_332842 | 2 | 208434902:208435045:208436457:208436582:208439995:208440178 | 208436457:208436582 | ENSG00000118260.10 | ENST00000539789.1 |
| exon_skip_332843 | 2 | 208434902:208435045:208439995:208440178:208442228:208442355 | 208439995:208440178 | ENSG00000118260.10 | ENST00000430624.1,ENST00000432329.2,ENST00000353267.3,ENST00000448277.1 |
| exon_skip_332846 | 2 | 208440009:208440178:208441354:208441417:208441833:208441924 | 208441354:208441417 | ENSG00000118260.10 | ENST00000539789.1,ENST00000418081.1 |
| exon_skip_332850 | 2 | 208441359:208441417:208441833:208441948:208442228:208442355 | 208441833:208441948 | ENSG00000118260.10 | ENST00000418081.1 |
| 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 CREB1 |
| 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 |
| ENST00000432329 | 208420351 | 208420473 | 5CDS-5UTR |
| ENST00000432329 | 208425842 | 208425884 | In-frame |
| ENST00000432329 | 208439995 | 208440178 | 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 |
| ENST00000432329 | 208420351 | 208420473 | 5CDS-5UTR |
| ENST00000432329 | 208425842 | 208425884 | In-frame |
| ENST00000432329 | 208439995 | 208440178 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CREB1 |
| 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 |
| ENST00000432329 | 7667 | 341 | 208425842 | 208425884 | 513 | 554 | 87 | 101 |
| ENST00000432329 | 7667 | 341 | 208439995 | 208440178 | 799 | 981 | 182 | 243 |
| 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 |
| ENST00000432329 | 7667 | 341 | 208425842 | 208425884 | 513 | 554 | 87 | 101 |
| ENST00000432329 | 7667 | 341 | 208439995 | 208440178 | 799 | 981 | 182 | 243 |
| 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 |
| P16220 | 87 | 101 | 88 | 101 | Alternative sequence | ID=VSP_000596;Note=In isoform CREB-B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1831258,ECO:0000303|PubMed:2974179;Dbxref=PMID:1831258,PMID:2974179 |
| P16220 | 87 | 101 | 1 | 341 | Chain | ID=PRO_0000076597;Note=Cyclic AMP-responsive element-binding protein 1 |
| P16220 | 87 | 101 | 101 | 160 | Domain | Note=KID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00312 |
| P16220 | 182 | 243 | 162 | 272 | Alternative sequence | ID=VSP_043914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15579595;Dbxref=PMID:15579595 |
| P16220 | 182 | 243 | 1 | 341 | Chain | ID=PRO_0000076597;Note=Cyclic AMP-responsive element-binding protein 1 |
| P16220 | 182 | 243 | 184 | 184 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P16220 | 182 | 243 | 188 | 188 | Sequence conflict | Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P16220 | 182 | 243 | 195 | 195 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P16220 | 182 | 243 | 210 | 210 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P16220 | 87 | 101 | 88 | 101 | Alternative sequence | ID=VSP_000596;Note=In isoform CREB-B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1831258,ECO:0000303|PubMed:2974179;Dbxref=PMID:1831258,PMID:2974179 |
| P16220 | 87 | 101 | 1 | 341 | Chain | ID=PRO_0000076597;Note=Cyclic AMP-responsive element-binding protein 1 |
| P16220 | 87 | 101 | 101 | 160 | Domain | Note=KID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00312 |
| P16220 | 182 | 243 | 162 | 272 | Alternative sequence | ID=VSP_043914;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15579595;Dbxref=PMID:15579595 |
| P16220 | 182 | 243 | 1 | 341 | Chain | ID=PRO_0000076597;Note=Cyclic AMP-responsive element-binding protein 1 |
| P16220 | 182 | 243 | 184 | 184 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P16220 | 182 | 243 | 188 | 188 | Sequence conflict | Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P16220 | 182 | 243 | 195 | 195 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P16220 | 182 | 243 | 210 | 210 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CREB1 |
| - 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 |
| HNSC | TCGA-CR-7364-01 | exon_skip_332835 exon_skip_332832 | 208420352 | 208420473 | 208420421 | 208420421 | Frame_Shift_Del | A | - | p.E21fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_332835 exon_skip_332832 | 208420352 | 208420473 | 208420421 | 208420421 | Frame_Shift_Del | A | - | p.E21fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_332836 | 208424950 | 208425096 | 208425086 | 208425086 | Frame_Shift_Del | A | - | p.Q84fs |
| THYM | TCGA-XM-A8RB-01 | exon_skip_332835 exon_skip_332832 | 208420352 | 208420473 | 208420381 | 208420381 | Nonsense_Mutation | G | T | p.E8X |
| LGG | TCGA-DU-6392-01 | exon_skip_332843 | 208439996 | 208440178 | 208440061 | 208440061 | Nonsense_Mutation | C | T | p.Q205* |
| - 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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 208425843 | 208425884 | 208425864 | 208425865 | Frame_Shift_Del | AG | - | p.R95fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 208420352 | 208420473 | 208420383 | 208420383 | Missense_Mutation | G | C | p.E8D |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 208420352 | 208420473 | 208420406 | 208420406 | Missense_Mutation | C | A | p.A16D |
| LOVO_LARGE_INTESTINE | 208424950 | 208425096 | 208425059 | 208425059 | Missense_Mutation | C | A | p.P75Q |
| MMACSF_SKIN | 208424950 | 208425096 | 208425089 | 208425089 | Missense_Mutation | C | A | p.T85K |
| SW1116_LARGE_INTESTINE | 208439996 | 208440178 | 208440148 | 208440148 | Missense_Mutation | T | G | p.L234V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CREB1 |
| 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 CREB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CREB1 |
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RelatedDrugs for CREB1 |
| 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 |
| P16220 | DB01183 | Naloxone | Cyclic AMP-responsive element-binding protein 1 | small molecule | approved|vet_approved |
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RelatedDiseases for CREB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CREB1 | C0011570 | Mental Depression | 5 | PSYGENET |
| CREB1 | C0011581 | Depressive disorder | 5 | PSYGENET |
| CREB1 | C0041696 | Unipolar Depression | 5 | PSYGENET |
| CREB1 | C0525045 | Mood Disorders | 5 | PSYGENET |
| CREB1 | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| CREB1 | C0001973 | Alcoholic Intoxication, Chronic | 3 | PSYGENET |
| CREB1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| CREB1 | C0036341 | Schizophrenia | 3 | PSYGENET |
| CREB1 | C0236736 | Cocaine-Related Disorders | 3 | CTD_human |
| CREB1 | C0026552 | Morphine Dependence | 1 | CTD_human |
| CREB1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| CREB1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| CREB1 | C0600427 | Cocaine Dependence | 1 | PSYGENET |
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