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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CSAD |
 Gene summary |
| Gene information | Gene symbol | CSAD | Gene ID | 51380 |
| Gene name | cysteine sulfinic acid decarboxylase | |
| Synonyms | CSD|PCAP | |
| Cytomap | 12q13.13 | |
| Type of gene | protein-coding | |
| Description | cysteine sulfinic acid decarboxylaseP-selectin cytoplasmic tail-associated proteinaspartate 1-decarboxylasecysteine sulfinic acid decarboxylase-related proteincysteine-sulfinate decarboxylasesulfinoalanine decarboxylase | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for CSAD |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000139631
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CSAD |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_106520 | chr12 | 53170423:53170502:53171326:53171441:53171882:53171988 | 53171326:53171441 |
| exon_skip_111114 | chr12 | 53173345:53173476:53173728:53173767:53180601:53180646 | 53173728:53173767 |
| exon_skip_144929 | chr12 | 53170423:53170502:53171882:53171988:53172346:53172371 | 53171882:53171988 |
| exon_skip_146337 | chr12 | 53172346:53172436:53172522:53172648:53173345:53173374 | 53172522:53172648 |
| exon_skip_14848 | chr12 | 53173345:53173476:53179773:53180012:53180601:53180646 | 53179773:53180012 |
| exon_skip_158344 | chr12 | 53170423:53170502:53171326:53171441:53171878:53171988 | 53171326:53171441 |
| exon_skip_170586 | chr12 | 53160291:53160319:53160763:53160844:53161273:53161389 | 53160763:53160844 |
| exon_skip_180325 | chr12 | 53173345:53173476:53173728:53173767:53180567:53180596 | 53173728:53173767 |
| exon_skip_20627 | chr12 | 53161164:53161191:53161273:53161389:53170072:53170126 | 53161273:53161389 |
| exon_skip_223499 | chr12 | 53173728:53173770:53179102:53179142:53180732:53180909 | 53179102:53179142 |
| exon_skip_224493 | chr12 | 53164622:53164755:53166205:53166327:53170072:53170126 | 53166205:53166327 |
| exon_skip_232802 | chr12 | 53160763:53160844:53161127:53161191:53161273:53161389 | 53161127:53161191 |
| exon_skip_233676 | chr12 | 53164716:53164755:53166205:53166327:53170072:53170126 | 53166205:53166327 |
| exon_skip_24649 | chr12 | 53171404:53171441:53171878:53171988:53173345:53173374 | 53171878:53171988 |
| exon_skip_258189 | chr12 | 53173728:53173770:53179621:53179666:53180567:53180598 | 53179621:53179666 |
| exon_skip_291414 | chr12 | 53170423:53170502:53171177:53171441:53171882:53171988 | 53171177:53171441 |
| exon_skip_31450 | chr12 | 53173728:53173770:53179621:53179666:53180567:53180596 | 53179621:53179666 |
| exon_skip_49980 | chr12 | 53170423:53170502:53171273:53171441:53171882:53171988 | 53171273:53171441 |
| exon_skip_70529 | chr12 | 53160763:53160844:53161273:53161389:53170072:53170126 | 53161273:53161389 |
| exon_skip_98672 | chr12 | 53170072:53170126:53170423:53170502:53173345:53173374 | 53170423:53170502 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_232802 | Mayo_CB | 3.043902e-01 | 4.225974e-01 | -1.182072e-01 | 5.176697e-07 |
| exon_skip_141511 | Mayo_TC | 5.038272e-01 | 4.006849e-01 | 1.031422e-01 | 6.234920e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for CSAD |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000444623 | 53161127 | 53161191 | Frame-shift |
| ENST00000453446 | 53161127 | 53161191 | Frame-shift |
| ENST00000444623 | 53171326 | 53171441 | Frame-shift |
| ENST00000453446 | 53171326 | 53171441 | Frame-shift |
| ENST00000444623 | 53172522 | 53172648 | Frame-shift |
| ENST00000453446 | 53172522 | 53172648 | Frame-shift |
| ENST00000444623 | 53161273 | 53161389 | In-frame |
| ENST00000453446 | 53161273 | 53161389 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000444623 | 53161127 | 53161191 | Frame-shift |
| ENST00000453446 | 53161127 | 53161191 | Frame-shift |
| ENST00000444623 | 53171326 | 53171441 | Frame-shift |
| ENST00000453446 | 53171326 | 53171441 | Frame-shift |
| ENST00000444623 | 53172522 | 53172648 | Frame-shift |
| ENST00000453446 | 53172522 | 53172648 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000444623 | 53179102 | 53179142 | 3UTR-3UTR |
| ENST00000453446 | 53179773 | 53180012 | 3UTR-3UTR |
| ENST00000444623 | 53161127 | 53161191 | Frame-shift |
| ENST00000453446 | 53161127 | 53161191 | Frame-shift |
| ENST00000444623 | 53171326 | 53171441 | Frame-shift |
| ENST00000453446 | 53171326 | 53171441 | Frame-shift |
| ENST00000444623 | 53172522 | 53172648 | Frame-shift |
| ENST00000453446 | 53172522 | 53172648 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CSAD |
p-ENSG00000139631_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000444623 | 2139 | 493 | 53161273 | 53161389 | 971 | 1086 | 234 | 272 |
| ENST00000453446 | 1791 | 493 | 53161273 | 53161389 | 995 | 1110 | 234 | 272 |
| Loci of skipped exons in MSBB 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 Mayo 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 ROSMAP. |
| 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 |
| Q9Y600 | 234 | 272 | 237 | 246 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 237 | 246 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 269 | 274 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 269 | 274 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 1 | 493 | Chain | ID=PRO_0000147006;Note=Cysteine sulfinic acid decarboxylase |
| Q9Y600 | 234 | 272 | 1 | 493 | Chain | ID=PRO_0000147006;Note=Cysteine sulfinic acid decarboxylase |
| Q9Y600 | 234 | 272 | 256 | 266 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 256 | 266 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 257 | 257 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y600 | 234 | 272 | 257 | 257 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y600 | 234 | 272 | 248 | 250 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Q9Y600 | 234 | 272 | 248 | 250 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2JIS |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in CSAD |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-6124 | chr12:53179973-53179980 | 8mer-1a | chr12:53179960-53179982 | 143.00 | -20.10 |
| Mayo | ENST00000444623 | 53179102 | 53179142 | hsa-miR-1228-3p | chr12:53179129-53179136 | 8mer-1a | chr12:53179115-53179138 | 159.00 | -18.97 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-6774-5p | chr12:53179923-53179930 | 8mer-1a | chr12:53179921-53179940 | 154.00 | -18.68 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-1288-3p | chr12:53179830-53179837 | 8mer-1a | chr12:53179814-53179842 | 154.00 | -23.99 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-4726-5p | chr12:53179920-53179927 | 8mer-1a | chr12:53179905-53179927 | 155.00 | -28.70 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-635 | chr12:53179923-53179930 | 8mer-1a | chr12:53179921-53179940 | 154.00 | -18.68 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-338-3p | chr12:53180001-53180008 | 8mer-1a | chr12:53179987-53180008 | 156.00 | -20.47 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-10395-5p | chr12:53179814-53179821 | 8mer-1a | chr12:53179814-53179842 | 154.00 | -23.99 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-5001-3p | chr12:53179872-53179879 | 8mer-1a | chr12:53179856-53179880 | 153.00 | -21.90 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-6871-5p | chr12:53179938-53179945 | 8mer-1a | chr12:53179924-53179945 | 160.00 | -23.87 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-4533 | chr12:53179810-53179817 | 8mer-1a | chr12:53179796-53179817 | 151.00 | -23.14 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-4640-5p | chr12:53179920-53179927 | 8mer-1a | chr12:53179905-53179927 | 155.00 | -28.70 |
| Mayo | ENST00000444623 | 53179102 | 53179142 | hsa-miR-4284 | chr12:53179133-53179140 | 8mer-1a | chr12:53179123-53179140 | 151.00 | -19.56 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-6509-3p | chr12:53179794-53179801 | 8mer-1a | chr12:53179782-53179801 | 148.00 | -16.18 |
| Mayo | ENST00000453446 | 53179773 | 53180012 | hsa-miR-181a-2-3p | chr12:53179793-53179800 | 8mer-1a | chr12:53179782-53179801 | 148.00 | -16.18 |
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SNVs in the skipped exons for CSAD |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CSAD |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSAD |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CSAD |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_232802 | -5.341714e-01 | 4.129281e-13 |
| CB | CNOT4 | exon_skip_232802 | -4.904323e-01 | 5.306921e-11 |
| CB | HNRNPA2B1 | exon_skip_232802 | -4.824516e-01 | 1.197795e-10 |
| CB | RBM45 | exon_skip_232802 | 6.706205e-01 | 4.060982e-22 |
| CB | RBM4B | exon_skip_232802 | -5.163606e-01 | 3.243954e-12 |
| TC | RBM4B | exon_skip_232802 | -4.301055e-01 | 1.888663e-08 |
| TC | RBM6 | exon_skip_141511 | 4.004778e-01 | 2.655990e-07 |
| TC | SAMD4A | exon_skip_141511 | 4.395698e-01 | 1.173611e-08 |
| TC | RBM24 | exon_skip_141511 | -5.733987e-01 | 7.721439e-15 |
| TC | HNRNPH2 | exon_skip_141511 | -5.082567e-01 | 1.708876e-11 |
| TC | ESRP1 | exon_skip_141511 | -4.478139e-01 | 5.771221e-09 |
| TC | NOVA1 | exon_skip_141511 | -5.503168e-01 | 1.433125e-13 |
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RelatedDrugs for CSAD |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9Y600 | approved|investigational|nutraceutical | DB00114 | Pyridoxal phosphate | small molecule | Q9Y600 |
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RelatedDiseases for CSAD |
| 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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