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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 CMBL |
 Gene summary |
| Gene information | Gene symbol | CMBL | Gene ID | 134147 |
| Gene name | carboxymethylenebutenolidase homolog | |
| Synonyms | JS-1 | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | carboxymethylenebutenolidase homologcarboxymethylenebutenolidase homolog (Pseudomonas)carboxymethylenebutenolidase-like (Pseudomonas) | |
| Modification date | 20180519 | |
| UniProtAcc | Q96DG6 | |
| Context | PubMed: CMBL [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 CMBL 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 CMBL |
| 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 CMBL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441073 | 5 | 10280577:10280744:10282308:10282400:10286465:10286608 | 10282308:10282400 | ENSG00000164237.4 | ENST00000296658.3 |
| exon_skip_441075 | 5 | 10280577:10280744:10286465:10286608:10288533:10288641 | 10286465:10286608 | ENSG00000164237.4 | ENST00000510532.1 |
| exon_skip_441077 | 5 | 10282308:10282400:10286465:10286608:10288533:10288641 | 10286465:10286608 | ENSG00000164237.4 | ENST00000296658.3 |
| exon_skip_441078 | 5 | 10286465:10286608:10288533:10288641:10290659:10290893 | 10288533:10288641 | ENSG00000164237.4 | ENST00000511963.1,ENST00000506821.1,ENST00000510532.1,ENST00000296658.3 |
| exon_skip_441079 | 5 | 10288533:10288641:10290659:10290893:10307736:10307951 | 10290659:10290893 | ENSG00000164237.4 | ENST00000506821.1,ENST00000296658.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CMBL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441073 | 5 | 10280577:10280744:10282308:10282400:10286465:10286608 | 10282308:10282400 | ENSG00000164237.4 | ENST00000296658.3 |
| exon_skip_441075 | 5 | 10280577:10280744:10286465:10286608:10288533:10288641 | 10286465:10286608 | ENSG00000164237.4 | ENST00000510532.1 |
| exon_skip_441077 | 5 | 10282308:10282400:10286465:10286608:10288533:10288641 | 10286465:10286608 | ENSG00000164237.4 | ENST00000296658.3 |
| exon_skip_441078 | 5 | 10286465:10286608:10288533:10288641:10290659:10290893 | 10288533:10288641 | ENSG00000164237.4 | ENST00000296658.3,ENST00000510532.1,ENST00000511963.1,ENST00000506821.1 |
| exon_skip_441079 | 5 | 10288533:10288641:10290659:10290893:10307736:10307951 | 10290659:10290893 | ENSG00000164237.4 | ENST00000296658.3,ENST00000506821.1 |
| 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 CMBL |
| 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 |
| ENST00000296658 | 10290659 | 10290893 | 3UTR-3CDS |
| ENST00000296658 | 10282308 | 10282400 | Frame-shift |
| ENST00000296658 | 10286465 | 10286608 | Frame-shift |
| ENST00000296658 | 10288533 | 10288641 | 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 |
| ENST00000296658 | 10290659 | 10290893 | 3UTR-3CDS |
| ENST00000296658 | 10282308 | 10282400 | Frame-shift |
| ENST00000296658 | 10286465 | 10286608 | Frame-shift |
| ENST00000296658 | 10288533 | 10288641 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CMBL |
| 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 |
| ENST00000296658 | 2352 | 245 | 10288533 | 10288641 | 637 | 744 | 72 | 107 |
| 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 |
| ENST00000296658 | 2352 | 245 | 10288533 | 10288641 | 637 | 744 | 72 | 107 |
| 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 |
| Q96DG6 | 72 | 107 | 2 | 245 | Chain | ID=PRO_0000308188;Note=Carboxymethylenebutenolidase homolog |
| Q96DG6 | 72 | 107 | 99 | 99 | Sequence conflict | Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96DG6 | 72 | 107 | 104 | 104 | Sequence conflict | Note=Q->H;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 |
| Q96DG6 | 72 | 107 | 2 | 245 | Chain | ID=PRO_0000308188;Note=Carboxymethylenebutenolidase homolog |
| Q96DG6 | 72 | 107 | 99 | 99 | Sequence conflict | Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96DG6 | 72 | 107 | 104 | 104 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CMBL |
| - 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-A1EG-01 | exon_skip_441073 | 10282309 | 10282400 | 10282342 | 10282342 | Frame_Shift_Del | A | - | p.A176fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441073 | 10282309 | 10282400 | 10282342 | 10282342 | Frame_Shift_Del | A | - | p.F175fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_441073 | 10282309 | 10282400 | 10282342 | 10282342 | Frame_Shift_Del | A | - | p.F175fs |
| KIRP | TCGA-5P-A9JY-01 | exon_skip_441077 exon_skip_441075 | 10286466 | 10286608 | 10286542 | 10286543 | Frame_Shift_Del | TC | - | p.130_131del |
| CHOL | TCGA-W5-AA2X-01 | exon_skip_441079 | 10290660 | 10290893 | 10290721 | 10290724 | Frame_Shift_Del | ATAT | - | p.51_52del |
| CHOL | TCGA-W5-AA2X-01 | exon_skip_441079 | 10290660 | 10290893 | 10290721 | 10290724 | Frame_Shift_Del | ATAT | - | p.IF51fs |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_441079 | 10290660 | 10290893 | 10290713 | 10290713 | Nonsense_Mutation | C | T | p.W54* |
| PRAD | TCGA-KK-A59V-01 | exon_skip_441079 | 10290660 | 10290893 | 10290659 | 10290659 | Splice_Site | C | T | . |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10286466 | 10286608 | 10286478 | 10286478 | Frame_Shift_Del | C | - | p.V152fs |
| NCIH2342_LUNG | 10286466 | 10286608 | 10286488 | 10286488 | Missense_Mutation | G | C | p.F148L |
| SNU81_LARGE_INTESTINE | 10286466 | 10286608 | 10286506 | 10286506 | Missense_Mutation | C | T | p.M142I |
| TT_THYROID | 10286466 | 10286608 | 10286516 | 10286516 | Missense_Mutation | T | G | p.H139P |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10286466 | 10286608 | 10286531 | 10286531 | Missense_Mutation | C | G | p.G134A |
| GP2D_LARGE_INTESTINE | 10286466 | 10286608 | 10286603 | 10286603 | Missense_Mutation | A | G | p.I110T |
| GP5D_LARGE_INTESTINE | 10286466 | 10286608 | 10286603 | 10286603 | Missense_Mutation | A | G | p.I110T |
| RKO_LARGE_INTESTINE | 10288534 | 10288641 | 10288545 | 10288545 | Missense_Mutation | C | A | p.Q104H |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10290660 | 10290893 | 10290676 | 10290676 | Missense_Mutation | A | G | p.S67P |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10290660 | 10290893 | 10290790 | 10290790 | Missense_Mutation | G | A | p.H29Y |
| NCIH661_LUNG | 10290660 | 10290893 | 10290816 | 10290816 | Missense_Mutation | C | A | p.G20V |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10290660 | 10290893 | 10290865 | 10290865 | Missense_Mutation | C | T | p.E4K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CMBL |
| 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 CMBL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CMBL |
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RelatedDrugs for CMBL |
| 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 CMBL |
| 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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