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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 CA5B |
 Gene summary |
| Gene information | Gene symbol | CA5B | Gene ID | 11238 |
| Gene name | carbonic anhydrase 5B | |
| Synonyms | CA-VB | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | carbonic anhydrase 5B, mitochondrialcarbonate dehydratase VBcarbonic anhydrase VB, mitochondrialcarbonic dehydratase | |
| Modification date | 20180522 | |
| UniProtAcc | Q9Y2D0 | |
| Context | PubMed: CA5B [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 CA5B 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 CA5B |
| 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 CA5B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509286 | X | 15739619:15739715:15763753:15763833:15768093:15768288 | 15763753:15763833 | ENSG00000169239.8 | ENST00000498004.1 |
| exon_skip_509289 | X | 15756432:15756475:15763753:15763833:15768093:15768288 | 15763753:15763833 | ENSG00000169239.8 | ENST00000380319.2,ENST00000474624.1 |
| exon_skip_509290 | X | 15756432:15756475:15768093:15768288:15782700:15782788 | 15768093:15768288 | ENSG00000169239.8 | ENST00000318636.3 |
| exon_skip_509291 | X | 15768093:15768288:15782700:15782898:15790618:15790686 | 15782700:15782898 | ENSG00000169239.8 | ENST00000479740.1,ENST00000454127.2,ENST00000318636.3 |
| exon_skip_509292 | X | 15782718:15782898:15785034:15785149:15786765:15786987 | 15785034:15785149 | ENSG00000169239.8 | ENST00000478341.1 |
| exon_skip_509294 | X | 15790618:15790737:15792424:15792520:15793368:15793431 | 15792424:15792520 | ENSG00000169239.8 | ENST00000454127.2,ENST00000318636.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CA5B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509286 | X | 15739619:15739715:15763753:15763833:15768093:15768288 | 15763753:15763833 | ENSG00000169239.8 | ENST00000498004.1 |
| exon_skip_509289 | X | 15756432:15756475:15763753:15763833:15768093:15768288 | 15763753:15763833 | ENSG00000169239.8 | ENST00000474624.1,ENST00000380319.2 |
| exon_skip_509290 | X | 15756432:15756475:15768093:15768288:15782700:15782788 | 15768093:15768288 | ENSG00000169239.8 | ENST00000318636.3 |
| exon_skip_509291 | X | 15768093:15768288:15782700:15782898:15790618:15790686 | 15782700:15782898 | ENSG00000169239.8 | ENST00000318636.3,ENST00000479740.1,ENST00000454127.2 |
| exon_skip_509292 | X | 15782718:15782898:15785034:15785149:15786765:15786987 | 15785034:15785149 | ENSG00000169239.8 | ENST00000478341.1 |
| exon_skip_509294 | X | 15790618:15790737:15792424:15792520:15793368:15793431 | 15792424:15792520 | ENSG00000169239.8 | ENST00000318636.3,ENST00000454127.2 |
| 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 CA5B |
| 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 |
| ENST00000318636 | 15768093 | 15768288 | 5CDS-5UTR |
| ENST00000318636 | 15782700 | 15782898 | In-frame |
| ENST00000454127 | 15782700 | 15782898 | In-frame |
| ENST00000318636 | 15792424 | 15792520 | In-frame |
| ENST00000454127 | 15792424 | 15792520 | 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 |
| ENST00000318636 | 15768093 | 15768288 | 5CDS-5UTR |
| ENST00000318636 | 15782700 | 15782898 | In-frame |
| ENST00000454127 | 15782700 | 15782898 | In-frame |
| ENST00000318636 | 15792424 | 15792520 | In-frame |
| ENST00000454127 | 15792424 | 15792520 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CA5B |
| 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 |
| ENST00000318636 | 6067 | 317 | 15782700 | 15782898 | 279 | 476 | 47 | 113 |
| ENST00000454127 | 2222 | 317 | 15782700 | 15782898 | 197 | 394 | 47 | 113 |
| ENST00000318636 | 6067 | 317 | 15792424 | 15792520 | 596 | 691 | 153 | 185 |
| ENST00000454127 | 2222 | 317 | 15792424 | 15792520 | 514 | 609 | 153 | 185 |
| 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 |
| ENST00000318636 | 6067 | 317 | 15782700 | 15782898 | 279 | 476 | 47 | 113 |
| ENST00000454127 | 2222 | 317 | 15782700 | 15782898 | 197 | 394 | 47 | 113 |
| ENST00000318636 | 6067 | 317 | 15792424 | 15792520 | 596 | 691 | 153 | 185 |
| ENST00000454127 | 2222 | 317 | 15792424 | 15792520 | 514 | 609 | 153 | 185 |
| 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 |
| Q9Y2D0 | 47 | 113 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 47 | 113 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 47 | 113 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 47 | 113 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 153 | 185 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 153 | 185 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 155 | 155 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 155 | 155 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| 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 |
| Q9Y2D0 | 47 | 113 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 47 | 113 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 47 | 113 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 47 | 113 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 153 | 185 | 34 | 317 | Chain | ID=PRO_0000004237;Note=Carbonic anhydrase 5B%2C mitochondrial |
| Q9Y2D0 | 153 | 185 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 37 | 296 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 155 | 155 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q9Y2D0 | 153 | 185 | 155 | 155 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
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SNVs in the skipped exons for CA5B |
| - 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 |
| UCEC | TCGA-AX-A0IS-01 | exon_skip_509290 | 15768094 | 15768288 | 15768282 | 15768283 | Frame_Shift_Ins | - | G | p.R46fs |
| HNSC | TCGA-CN-4738-01 | exon_skip_509294 | 15792425 | 15792520 | 15792452 | 15792452 | Nonsense_Mutation | A | T | p.R163* |
| - 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 |
| CW2_LARGE_INTESTINE | 15768094 | 15768288 | 15768178 | 15768178 | Missense_Mutation | T | C | p.L11P |
| NCIH520_LUNG | 15768094 | 15768288 | 15768180 | 15768180 | Missense_Mutation | C | G | p.Q12E |
| MCAS_OVARY | 15768094 | 15768288 | 15768277 | 15768277 | Missense_Mutation | G | A | p.R44Q |
| COV362_OVARY | 15782701 | 15782898 | 15782733 | 15782733 | Missense_Mutation | C | T | p.P59S |
| CW2_LARGE_INTESTINE | 15782701 | 15782898 | 15782740 | 15782740 | Missense_Mutation | G | C | p.G61A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CA5B |
| 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 CA5B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CA5B |
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RelatedDrugs for CA5B |
| 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 |
| Q9Y2D0 | DB00909 | Zonisamide | Carbonic anhydrase 5B, mitochondrial | small molecule | approved|investigational |
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RelatedDiseases for CA5B |
| 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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