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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 CREB3L2 |
 Gene summary |
| Gene information | Gene symbol | CREB3L2 | Gene ID | 64764 |
| Gene name | cAMP responsive element binding protein 3 like 2 | |
| Synonyms | BBF2H7 | |
| Cytomap | 7q33 | |
| Type of gene | protein-coding | |
| Description | cyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q70SY1 | |
| Context | PubMed: CREB3L2 [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 |
| CREB3L2 | GO:0045893 | positive regulation of transcription, DNA-templated | 17178827 |
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Exon skipping events across known transcript of Ensembl for CREB3L2 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 CREB3L2 |
| 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 CREB3L2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479670 | 7 | 137559724:137565297:137567157:137567374:137569740:137569867 | 137567157:137567374 | ENSG00000182158.10 | ENST00000330387.6 |
| exon_skip_479671 | 7 | 137586099:137586168:137588704:137588763:137590447:137590594 | 137588704:137588763 | ENSG00000182158.10 | ENST00000456390.1,ENST00000330387.6 |
| exon_skip_479673 | 7 | 137592997:137593182:137597736:137597824:137600582:137600758 | 137597736:137597824 | ENSG00000182158.10 | ENST00000456390.1,ENST00000330387.6 |
| exon_skip_479674 | 7 | 137600582:137600758:137607335:137607513:137612895:137613015 | 137607335:137607513 | ENSG00000182158.10 | ENST00000420629.1 |
| exon_skip_479676 | 7 | 137600582:137600758:137612895:137613112:137686349:137686793 | 137612895:137613112 | ENSG00000182158.10 | ENST00000456390.1,ENST00000452463.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CREB3L2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479670 | 7 | 137559724:137565297:137567157:137567374:137569740:137569867 | 137567157:137567374 | ENSG00000182158.10 | ENST00000330387.6 |
| exon_skip_479671 | 7 | 137586099:137586168:137588704:137588763:137590447:137590594 | 137588704:137588763 | ENSG00000182158.10 | ENST00000330387.6,ENST00000456390.1 |
| exon_skip_479673 | 7 | 137592997:137593182:137597736:137597824:137600582:137600758 | 137597736:137597824 | ENSG00000182158.10 | ENST00000330387.6,ENST00000456390.1 |
| exon_skip_479674 | 7 | 137600582:137600758:137607335:137607513:137612895:137613015 | 137607335:137607513 | ENSG00000182158.10 | ENST00000420629.1 |
| exon_skip_479676 | 7 | 137600582:137600758:137612895:137613112:137686349:137686793 | 137612895:137613112 | ENSG00000182158.10 | ENST00000456390.1,ENST00000452463.1 |
| 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 CREB3L2 |
| 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 |
| ENST00000330387 | 137567157 | 137567374 | Frame-shift |
| ENST00000330387 | 137588704 | 137588763 | Frame-shift |
| ENST00000330387 | 137597736 | 137597824 | 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 |
| ENST00000330387 | 137567157 | 137567374 | Frame-shift |
| ENST00000330387 | 137588704 | 137588763 | Frame-shift |
| ENST00000330387 | 137597736 | 137597824 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CREB3L2 |
| 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 CREB3L2 |
| - 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-A39Y-01 | exon_skip_479670 | 137567158 | 137567374 | 137567253 | 137567253 | Frame_Shift_Del | C | - | p.G464fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_479670 | 137567158 | 137567374 | 137567290 | 137567290 | Frame_Shift_Del | C | - | p.G452fs |
| COAD | TCGA-A6-5665-01 | exon_skip_479671 | 137588705 | 137588763 | 137588765 | 137588766 | Splice_Site | - | GA | . |
| - 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 |
| NCIH630_LARGE_INTESTINE | 137567158 | 137567374 | 137567290 | 137567290 | Frame_Shift_Del | C | - | p.G452fs |
| NCIH2085_LUNG | 137567158 | 137567374 | 137567314 | 137567314 | Missense_Mutation | G | A | p.P444L |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 137567158 | 137567374 | 137567366 | 137567366 | Missense_Mutation | T | C | p.R427G |
| SNU719_STOMACH | 137597737 | 137597824 | 137597743 | 137597743 | Missense_Mutation | T | C | p.K193E |
| SNU245_BILIARY_TRACT | 137612896 | 137613112 | 137612899 | 137612899 | Missense_Mutation | C | T | p.D106N |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 137612896 | 137613112 | 137612903 | 137612903 | Missense_Mutation | G | T | p.F104L |
| JHUEM1_ENDOMETRIUM | 137612896 | 137613112 | 137612939 | 137612939 | Missense_Mutation | C | A | p.Q92H |
| MZ7MEL_SKIN | 137612896 | 137613112 | 137612992 | 137612992 | Missense_Mutation | G | A | p.P75S |
| GP2D_LARGE_INTESTINE | 137612896 | 137613112 | 137612897 | 137612897 | Splice_Site | G | A | p.D106D |
| GP5D_LARGE_INTESTINE | 137612896 | 137613112 | 137612897 | 137612897 | Splice_Site | G | A | p.D106D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CREB3L2 |
| 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 CREB3L2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CREB3L2 |
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RelatedDrugs for CREB3L2 |
| 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 CREB3L2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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