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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 CA9 |
 Gene summary |
| Gene information | Gene symbol | CA9 | Gene ID | 768 |
| Gene name | carbonic anhydrase 9 | |
| Synonyms | CAIX|MN | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | carbonic anhydrase 9CA-IXP54/58NRCC-associated antigen G250RCC-associated protein G250carbonate dehydratase IXcarbonic anhydrase IXcarbonic dehydratasemembrane antigen MNpMW1renal cell carcinoma-associated antigen G250 | |
| Modification date | 20180527 | |
| UniProtAcc | Q16790 | |
| Context | PubMed: CA9 [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 CA9 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 CA9 |
| 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 CA9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495714 | 9 | 35676159:35676203:35676293:35676386:35677786:35677853 | 35676293:35676386 | ENSG00000107159.8 | ENST00000378357.4 |
| exon_skip_495719 | 9 | 35676293:35676386:35677786:35677853:35679181:35679339 | 35677786:35677853 | ENSG00000107159.8 | ENST00000378357.4 |
| exon_skip_495727 | 9 | 35679901:35679995:35680109:35680136:35680749:35680831 | 35680109:35680136 | ENSG00000107159.8 | ENST00000493245.1,ENST00000378357.4 |
| exon_skip_495729 | 9 | 35680114:35680136:35680749:35680831:35680961:35681135 | 35680749:35680831 | ENSG00000107159.8 | ENST00000493245.1,ENST00000378357.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CA9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495714 | 9 | 35676159:35676203:35676293:35676386:35677786:35677853 | 35676293:35676386 | ENSG00000107159.8 | ENST00000378357.4 |
| exon_skip_495719 | 9 | 35676293:35676386:35677786:35677853:35679181:35679339 | 35677786:35677853 | ENSG00000107159.8 | ENST00000378357.4 |
| exon_skip_495727 | 9 | 35679901:35679995:35680109:35680136:35680749:35680831 | 35680109:35680136 | ENSG00000107159.8 | ENST00000378357.4,ENST00000493245.1 |
| exon_skip_495729 | 9 | 35680114:35680136:35680749:35680831:35680961:35681135 | 35680749:35680831 | ENSG00000107159.8 | ENST00000378357.4,ENST00000493245.1 |
| 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 CA9 |
| 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 |
| ENST00000378357 | 35677786 | 35677853 | Frame-shift |
| ENST00000378357 | 35680749 | 35680831 | Frame-shift |
| ENST00000378357 | 35676293 | 35676386 | In-frame |
| ENST00000378357 | 35680109 | 35680136 | 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 |
| ENST00000378357 | 35677786 | 35677853 | Frame-shift |
| ENST00000378357 | 35680749 | 35680831 | Frame-shift |
| ENST00000378357 | 35676293 | 35676386 | In-frame |
| ENST00000378357 | 35680109 | 35680136 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CA9 |
| 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 |
| ENST00000378357 | 1635 | 459 | 35676293 | 35676386 | 852 | 944 | 249 | 280 |
| 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 |
| ENST00000378357 | 1635 | 459 | 35676293 | 35676386 | 852 | 944 | 249 | 280 |
| 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 |
| Q16790 | 249 | 280 | 247 | 256 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DVX |
| Q16790 | 249 | 280 | 271 | 281 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DVX |
| Q16790 | 249 | 280 | 38 | 459 | Chain | ID=PRO_0000004243;Note=Carbonic anhydrase 9 |
| Q16790 | 249 | 280 | 156 | 336 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805286;Dbxref=PMID:19805286 |
| Q16790 | 249 | 280 | 139 | 390 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q16790 | 249 | 280 | 262 | 265 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DVX |
| Q16790 | 249 | 280 | 251 | 251 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805286;Dbxref=PMID:19805286 |
| Q16790 | 249 | 280 | 113 | 414 | Region | Note=Catalytic |
| Q16790 | 249 | 280 | 38 | 414 | Topological domain | Note=Extracellular |
| 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 |
| Q16790 | 249 | 280 | 247 | 256 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DVX |
| Q16790 | 249 | 280 | 271 | 281 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DVX |
| Q16790 | 249 | 280 | 38 | 459 | Chain | ID=PRO_0000004243;Note=Carbonic anhydrase 9 |
| Q16790 | 249 | 280 | 156 | 336 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805286;Dbxref=PMID:19805286 |
| Q16790 | 249 | 280 | 139 | 390 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
| Q16790 | 249 | 280 | 262 | 265 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DVX |
| Q16790 | 249 | 280 | 251 | 251 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19805286;Dbxref=PMID:19805286 |
| Q16790 | 249 | 280 | 113 | 414 | Region | Note=Catalytic |
| Q16790 | 249 | 280 | 38 | 414 | Topological domain | Note=Extracellular |
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SNVs in the skipped exons for CA9 |
| - 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_495729 | 35680750 | 35680831 | 35680762 | 35680762 | Frame_Shift_Del | C | - | p.A417fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495729 | 35680750 | 35680831 | 35680762 | 35680762 | Frame_Shift_Del | C | - | p.A417fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495729 | 35680750 | 35680831 | 35680768 | 35680768 | Frame_Shift_Del | T | - | p.V419fs |
| UCEC | TCGA-AX-A05S-01 | exon_skip_495729 | 35680750 | 35680831 | 35680780 | 35680780 | Frame_Shift_Del | T | - | p.L423fs |
| - 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 |
| SW48_LARGE_INTESTINE | 35676294 | 35676386 | 35676324 | 35676324 | Missense_Mutation | G | A | p.A260T |
| PCI30_UPPER_AERODIGESTIVE_TRACT | 35677787 | 35677853 | 35677794 | 35677794 | Missense_Mutation | C | T | p.P283L |
| SNU1_STOMACH | 35680110 | 35680136 | 35680116 | 35680116 | Missense_Mutation | T | C | p.L406P |
| MCC13_SKIN | 35680110 | 35680136 | 35680122 | 35680122 | Missense_Mutation | C | T | p.S408F |
| GB1_CENTRAL_NERVOUS_SYSTEM | 35680750 | 35680831 | 35680754 | 35680754 | Missense_Mutation | C | G | p.D414E |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35680750 | 35680831 | 35680767 | 35680767 | Missense_Mutation | G | A | p.V419I |
| NUGC4_STOMACH | 35680750 | 35680831 | 35680795 | 35680795 | Missense_Mutation | G | A | p.S428N |
| PFSK1_CENTRAL_NERVOUS_SYSTEM | 35680750 | 35680831 | 35680797 | 35680797 | Missense_Mutation | G | A | p.V429I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CA9 |
| 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 CA9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CA9 |
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RelatedDrugs for CA9 |
| 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 |
| Q16790 | DB00562 | Benzthiazide | Carbonic anhydrase 9 | small molecule | approved | |
| Q16790 | DB00774 | Hydroflumethiazide | Carbonic anhydrase 9 | small molecule | approved|investigational | |
| Q16790 | DB00909 | Zonisamide | Carbonic anhydrase 9 | small molecule | approved|investigational |
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RelatedDiseases for CA9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CA9 | C0002793 | Anaplasia | 1 | CTD_human |
| CA9 | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
| CA9 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| CA9 | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| CA9 | C0242184 | Hypoxia | 1 | CTD_human |
| CA9 | C1176475 | Ductal Carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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