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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 CREB3L1 |
 Gene summary |
| Gene information | Gene symbol | CREB3L1 | Gene ID | 90993 |
| Gene name | cAMP responsive element binding protein 3 like 1 | |
| Synonyms | OASIS | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | cyclic AMP-responsive element-binding protein 3-like protein 1BBF-2 homologcAMP-responsive element-binding protein 3-like protein 1old astrocyte specifically-induced substance | |
| Modification date | 20180523 | |
| UniProtAcc | Q96BA8 | |
| Context | PubMed: CREB3L1 [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 |
| CREB3L1 | GO:0010629 | negative regulation of gene expression | 27121396 |
| CREB3L1 | GO:0032967 | positive regulation of collagen biosynthetic process | 25310401 |
| CREB3L1 | GO:0040037 | negative regulation of fibroblast growth factor receptor signaling pathway | 27121396 |
| CREB3L1 | GO:0045892 | negative regulation of transcription, DNA-templated | 27121396 |
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Exon skipping events across known transcript of Ensembl for CREB3L1 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 CREB3L1 |
| 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 CREB3L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_58664 | 11 | 46321485:46321714:46329366:46329551:46331539:46331618 | 46329366:46329551 | ENSG00000157613.6 | ENST00000288400.3,ENST00000529193.1 |
| exon_skip_58670 | 11 | 46329366:46329551:46331539:46331618:46332582:46332740 | 46331539:46331618 | ENSG00000157613.6 | ENST00000288400.3,ENST00000529193.1 |
| exon_skip_58673 | 11 | 46334162:46334221:46334401:46334470:46337836:46337936 | 46334401:46334470 | ENSG00000157613.6 | ENST00000288400.3,ENST00000529193.1 |
| exon_skip_58675 | 11 | 46334401:46334470:46337836:46337936:46338911:46339038 | 46337836:46337936 | ENSG00000157613.6 | ENST00000288400.3,ENST00000529193.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CREB3L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_58664 | 11 | 46321485:46321714:46329366:46329551:46331539:46331618 | 46329366:46329551 | ENSG00000157613.6 | ENST00000529193.1,ENST00000288400.3 |
| exon_skip_58670 | 11 | 46329366:46329551:46331539:46331618:46332582:46332740 | 46331539:46331618 | ENSG00000157613.6 | ENST00000529193.1,ENST00000288400.3 |
| exon_skip_58673 | 11 | 46334162:46334221:46334401:46334470:46337836:46337936 | 46334401:46334470 | ENSG00000157613.6 | ENST00000529193.1,ENST00000288400.3 |
| exon_skip_58675 | 11 | 46334401:46334470:46337836:46337936:46338911:46339038 | 46337836:46337936 | ENSG00000157613.6 | ENST00000529193.1,ENST00000288400.3 |
| 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 CREB3L1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CREB3L1 |
| 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 CREB3L1 |
| - 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-G3-A3CJ-01 | exon_skip_58664 | 46329367 | 46329551 | 46329385 | 46329385 | Frame_Shift_Del | G | - | p.W117fs |
| OV | TCGA-10-0930-01 | exon_skip_58675 | 46337837 | 46337936 | 46337937 | 46337937 | Splice_Site | G | T | e9+1 |
| - 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 |
| MDST8_LARGE_INTESTINE | 46329367 | 46329551 | 46329379 | 46329379 | Missense_Mutation | G | A | p.G115E |
| EN_ENDOMETRIUM | 46329367 | 46329551 | 46329381 | 46329381 | Missense_Mutation | G | A | p.A116T |
| VMRCMELG_SKIN | 46329367 | 46329551 | 46329466 | 46329466 | Missense_Mutation | C | T | p.P144L |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46331540 | 46331618 | 46331559 | 46331559 | Missense_Mutation | A | G | p.Q179R |
| SKCO1_LARGE_INTESTINE | 46337837 | 46337936 | 46337874 | 46337874 | Missense_Mutation | G | T | p.V357F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46337837 | 46337936 | 46337881 | 46337881 | Missense_Mutation | A | G | p.N359S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 46337837 | 46337936 | 46337881 | 46337881 | Missense_Mutation | A | G | p.N359S |
| NCIH810_LUNG | 46337837 | 46337936 | 46337890 | 46337890 | Missense_Mutation | C | A | p.S362Y |
| EN_ENDOMETRIUM | 46337837 | 46337936 | 46337908 | 46337908 | Missense_Mutation | C | T | p.A368V |
| RH36_SOFT_TISSUE | 46337837 | 46337936 | 46337911 | 46337911 | Missense_Mutation | C | T | p.A369V |
| MCC13_SKIN | 46337837 | 46337936 | 46337847 | 46337847 | Nonsense_Mutation | C | T | p.Q348* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CREB3L1 |
| 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 CREB3L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CREB3L1 |
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RelatedDrugs for CREB3L1 |
| 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 CREB3L1 |
| 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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