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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 CSGALNACT1 |
 Gene summary |
| Gene information | Gene symbol | CSGALNACT1 | Gene ID | 55790 |
| Gene name | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | |
| Synonyms | CSGalNAcT-1|ChGn|ChGn-1|beta4GalNAcT | |
| Cytomap | 8p21.3 | |
| Type of gene | protein-coding | |
| Description | chondroitin sulfate N-acetylgalactosaminyltransferase 1beta4GalNAcT-1chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1chondroitin beta1,4 N-acetylgalactosaminyltransferaseglucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferas | |
| 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 |
| CSGALNACT1 | GO:0019276 | UDP-N-acetylgalactosamine metabolic process | 11514575 |
| CSGALNACT1 | GO:0030206 | chondroitin sulfate biosynthetic process | 11514575|12163485 |
| CSGALNACT1 | GO:0046398 | UDP-glucuronate metabolic process | 11514575 |
| CSGALNACT1 | GO:0050653 | chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | 12163485 |
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Gene structures and expression levels for CSGALNACT1 |
| 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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ENSG00000147408
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000397998.7 | CSGALNACT1-202:nonsense_mediated_decay:CSGALNACT1 | 1.168145e+02 | -9.707434e-01 | 4.499692e-04 | 2.634834e-03 |
| 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 CSGALNACT1 |
| 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_1140 | chr8 | 19505545:19506130:19601771:19601865:19757850:19758029 | 19601771:19601865 |
| exon_skip_132683 | chr8 | 19506116:19506130:19601771:19601865:19757850:19757938 | 19601771:19601865 |
| exon_skip_151944 | chr8 | 19439877:19439931:19458426:19458642:19505201:19506130 | 19458426:19458642 |
| exon_skip_180624 | chr8 | 19439877:19439931:19457530:19457816:19458426:19458642 | 19457530:19457816 |
| exon_skip_182185 | chr8 | 19601771:19601865:19732456:19732566:19757186:19757217 | 19732456:19732566 |
| exon_skip_187444 | chr8 | 19458426:19458642:19505201:19506130:19601771:19601865 | 19505201:19506130 |
| exon_skip_217879 | chr8 | 19505201:19506130:19591160:19591278:19601771:19601865 | 19591160:19591278 |
| exon_skip_224385 | chr8 | 19506116:19506130:19585166:19585317:19601771:19601865 | 19585166:19585317 |
| exon_skip_242756 | chr8 | 19439877:19439931:19458426:19458642:19505201:19505722 | 19458426:19458642 |
| exon_skip_281507 | chr8 | 19506116:19506130:19591160:19591278:19601771:19601865 | 19591160:19591278 |
| exon_skip_293153 | chr8 | 19420383:19420518:19439830:19439931:19458426:19458642 | 19439830:19439931 |
| exon_skip_33560 | chr8 | 19506116:19506130:19601771:19601865:19757186:19757217 | 19601771:19601865 |
| exon_skip_85301 | chr8 | 19587929:19588023:19591160:19591278:19601771:19601865 | 19591160:19591278 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CSGALNACT1 |
| 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 |
| ENST00000332246 | 19585166 | 19585317 | 3UTR-3UTR |
| ENST00000454498 | 19591160 | 19591278 | 3UTR-3UTR |
| ENST00000332246 | 19458426 | 19458642 | Frame-shift |
| ENST00000454498 | 19458426 | 19458642 | Frame-shift |
| ENST00000522854 | 19458426 | 19458642 | Frame-shift |
| ENST00000332246 | 19439830 | 19439931 | In-frame |
| ENST00000454498 | 19439830 | 19439931 | In-frame |
| ENST00000522854 | 19439830 | 19439931 | 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 |
| ENST00000332246 | 19585166 | 19585317 | 3UTR-3UTR |
| ENST00000454498 | 19591160 | 19591278 | 3UTR-3UTR |
| ENST00000332246 | 19439830 | 19439931 | In-frame |
| ENST00000454498 | 19439830 | 19439931 | In-frame |
| ENST00000522854 | 19439830 | 19439931 | In-frame |
| 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 |
| ENST00000522854 | 19505201 | 19506130 | 3UTR-3CDS |
| ENST00000332246 | 19585166 | 19585317 | 3UTR-3UTR |
| ENST00000454498 | 19591160 | 19591278 | 3UTR-3UTR |
| ENST00000332246 | 19458426 | 19458642 | Frame-shift |
| ENST00000454498 | 19458426 | 19458642 | Frame-shift |
| ENST00000522854 | 19458426 | 19458642 | Frame-shift |
| ENST00000332246 | 19439830 | 19439931 | In-frame |
| ENST00000454498 | 19439830 | 19439931 | In-frame |
| ENST00000522854 | 19439830 | 19439931 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CSGALNACT1 |
p-ENSG00000147408_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 |
| ENST00000332246 | 3889 | 532 | 19439830 | 19439931 | 1506 | 1606 | 284 | 317 |
| ENST00000454498 | 4249 | 532 | 19439830 | 19439931 | 1866 | 1966 | 284 | 317 |
| ENST00000522854 | 2007 | 532 | 19439830 | 19439931 | 1243 | 1343 | 284 | 317 |
| 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 |
| ENST00000332246 | 3889 | 532 | 19439830 | 19439931 | 1506 | 1606 | 284 | 317 |
| ENST00000454498 | 4249 | 532 | 19439830 | 19439931 | 1866 | 1966 | 284 | 317 |
| ENST00000522854 | 2007 | 532 | 19439830 | 19439931 | 1243 | 1343 | 284 | 317 |
| 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 |
| ENST00000332246 | 3889 | 532 | 19439830 | 19439931 | 1506 | 1606 | 284 | 317 |
| ENST00000454498 | 4249 | 532 | 19439830 | 19439931 | 1866 | 1966 | 284 | 317 |
| ENST00000522854 | 2007 | 532 | 19439830 | 19439931 | 1243 | 1343 | 284 | 317 |
| 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 |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 285 | 532 | Alternative sequence | ID=VSP_012728;Note=In isoform 3. EMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEFSRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNPGIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGEDVHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQ |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 1 | 532 | Chain | ID=PRO_0000189564;Note=Chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 315 | 315 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 312 | 312 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TDX6 | 284 | 317 | 36 | 532 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CSGALNACT1 |
| 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 | ENST00000332246 | 19585166 | 19585317 | hsa-miR-765 | chr8:19585243-19585250 | 8mer-1a | chr8:19585231-19585250 | 147.00 | -21.54 |
| Mayo | ENST00000454498 | 19591160 | 19591278 | hsa-miR-1343-5p | chr8:19591243-19591250 | 8mer-1a | chr8:19591227-19591250 | 170.00 | -33.06 |
| Mayo | ENST00000332246 | 19585166 | 19585317 | hsa-miR-11181-3p | chr8:19585243-19585250 | 8mer-1a | chr8:19585231-19585250 | 147.00 | -21.54 |
| Mayo | ENST00000332246 | 19585166 | 19585317 | hsa-miR-4519 | chr8:19585209-19585216 | 8mer-1a | chr8:19585199-19585216 | 159.00 | -20.48 |
| Mayo | ENST00000332246 | 19585166 | 19585317 | hsa-miR-6796-5p | chr8:19585228-19585235 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| Mayo | ENST00000332246 | 19585166 | 19585317 | hsa-miR-6804-5p | chr8:19585184-19585191 | 8mer-1a | chr8:19585172-19585191 | 153.00 | -21.94 |
| Mayo | ENST00000454498 | 19591160 | 19591278 | hsa-miR-4267 | chr8:19591187-19591194 | 8mer-1a | chr8:19591186-19591208 | 156.00 | -21.90 |
| Mayo | ENST00000454498 | 19591160 | 19591278 | hsa-miR-4786-5p | chr8:19591196-19591203 | 8mer-1a | chr8:19591186-19591208 | 156.00 | -21.90 |
| Mayo | ENST00000332246 | 19585166 | 19585317 | hsa-miR-185-3p | chr8:19585225-19585232 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| Mayo | ENST00000332246 | 19585166 | 19585317 | hsa-miR-3151-5p | chr8:19585227-19585234 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| Mayo | ENST00000454498 | 19591160 | 19591278 | hsa-miR-939-5p | chr8:19591243-19591250 | 8mer-1a | chr8:19591227-19591250 | 170.00 | -33.06 |
| Mayo | ENST00000454498 | 19591160 | 19591278 | hsa-miR-491-5p | chr8:19591245-19591252 | 8mer-1a | chr8:19591238-19591259 | 165.00 | -18.70 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-765 | chr8:19585243-19585250 | 8mer-1a | chr8:19585231-19585250 | 147.00 | -21.54 |
| MSBB | ENST00000454498 | 19591160 | 19591278 | hsa-miR-1343-5p | chr8:19591243-19591250 | 8mer-1a | chr8:19591227-19591250 | 170.00 | -33.06 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-11181-3p | chr8:19585243-19585250 | 8mer-1a | chr8:19585231-19585250 | 147.00 | -21.54 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-4519 | chr8:19585209-19585216 | 8mer-1a | chr8:19585199-19585216 | 159.00 | -20.48 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-6796-5p | chr8:19585228-19585235 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-6804-5p | chr8:19585184-19585191 | 8mer-1a | chr8:19585172-19585191 | 153.00 | -21.94 |
| MSBB | ENST00000454498 | 19591160 | 19591278 | hsa-miR-4267 | chr8:19591187-19591194 | 8mer-1a | chr8:19591186-19591208 | 156.00 | -21.90 |
| MSBB | ENST00000454498 | 19591160 | 19591278 | hsa-miR-4786-5p | chr8:19591196-19591203 | 8mer-1a | chr8:19591186-19591208 | 156.00 | -21.90 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-185-3p | chr8:19585225-19585232 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| MSBB | ENST00000332246 | 19585166 | 19585317 | hsa-miR-3151-5p | chr8:19585227-19585234 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| MSBB | ENST00000454498 | 19591160 | 19591278 | hsa-miR-939-5p | chr8:19591243-19591250 | 8mer-1a | chr8:19591227-19591250 | 170.00 | -33.06 |
| MSBB | ENST00000454498 | 19591160 | 19591278 | hsa-miR-491-5p | chr8:19591245-19591252 | 8mer-1a | chr8:19591238-19591259 | 165.00 | -18.70 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-765 | chr8:19585243-19585250 | 8mer-1a | chr8:19585231-19585250 | 147.00 | -21.54 |
| ROSMAP | ENST00000454498 | 19591160 | 19591278 | hsa-miR-1343-5p | chr8:19591243-19591250 | 8mer-1a | chr8:19591227-19591250 | 170.00 | -33.06 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-11181-3p | chr8:19585243-19585250 | 8mer-1a | chr8:19585231-19585250 | 147.00 | -21.54 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-4519 | chr8:19585209-19585216 | 8mer-1a | chr8:19585199-19585216 | 159.00 | -20.48 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-6796-5p | chr8:19585228-19585235 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-6804-5p | chr8:19585184-19585191 | 8mer-1a | chr8:19585172-19585191 | 153.00 | -21.94 |
| ROSMAP | ENST00000454498 | 19591160 | 19591278 | hsa-miR-4267 | chr8:19591187-19591194 | 8mer-1a | chr8:19591186-19591208 | 156.00 | -21.90 |
| ROSMAP | ENST00000454498 | 19591160 | 19591278 | hsa-miR-4786-5p | chr8:19591196-19591203 | 8mer-1a | chr8:19591186-19591208 | 156.00 | -21.90 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-185-3p | chr8:19585225-19585232 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| ROSMAP | ENST00000332246 | 19585166 | 19585317 | hsa-miR-3151-5p | chr8:19585227-19585234 | 8mer-1a | chr8:19585213-19585235 | 151.00 | -23.13 |
| ROSMAP | ENST00000454498 | 19591160 | 19591278 | hsa-miR-939-5p | chr8:19591243-19591250 | 8mer-1a | chr8:19591227-19591250 | 170.00 | -33.06 |
| ROSMAP | ENST00000454498 | 19591160 | 19591278 | hsa-miR-491-5p | chr8:19591245-19591252 | 8mer-1a | chr8:19591238-19591259 | 165.00 | -18.70 |
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SNVs in the skipped exons for CSGALNACT1 |
| - 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 CSGALNACT1 |
| 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 CSGALNACT1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_180624 | rs10105819 | chr8:19370686 | 6.346220e-06 | 1.769462e-03 |
| CB | exon_skip_180624 | rs4431609 | chr8:19436054 | 5.419949e-05 | 1.059495e-02 |
| CB | exon_skip_180624 | rs13258090 | chr8:19428215 | 9.549870e-05 | 1.668484e-02 |
| CB | exon_skip_180624 | rs7821446 | chr8:19411311 | 1.126067e-04 | 1.899778e-02 |
| CB | exon_skip_180624 | rs11204039 | chr8:19422931 | 1.851119e-04 | 2.805816e-02 |
| TC | exon_skip_33560 | rs6980558 | chr8:19571538 | 3.027039e-11 | 3.246646e-08 |
| TC | exon_skip_180624 | rs7821446 | chr8:19411311 | 4.388545e-10 | 3.823094e-07 |
| TC | exon_skip_33560 | rs13281882 | chr8:19569953 | 5.881938e-10 | 4.889214e-07 |
| TC | exon_skip_180624 | rs13258090 | chr8:19428215 | 2.672350e-08 | 1.363473e-05 |
| TC | exon_skip_180624 | rs11204039 | chr8:19422931 | 3.842287e-08 | 1.883325e-05 |
| TC | exon_skip_180624 | rs4431609 | chr8:19436054 | 1.402165e-07 | 5.926345e-05 |
| TC | exon_skip_180624 | rs10503653 | chr8:19473424 | 7.740358e-07 | 2.699572e-04 |
| TC | exon_skip_33560 | rs6996732 | chr8:19560517 | 5.281280e-05 | 9.865015e-03 |
| TC | exon_skip_33560 | rs4244455 | chr8:19670025 | 6.818543e-05 | 1.210277e-02 |
| TC | exon_skip_33560 | rs4535751 | chr8:19651324 | 6.844346e-05 | 1.213650e-02 |
| TC | exon_skip_33560 | rs1492644 | chr8:19687838 | 7.684916e-05 | 1.325149e-02 |
| TC | exon_skip_180624 | rs3802328 | chr8:19439540 | 9.838872e-05 | 1.612815e-02 |
| TC | exon_skip_180624 | rs6586830 | chr8:19427378 | 3.007307e-04 | 3.913501e-02 |
| HCC | exon_skip_33560 | rs13261887 | chr8:19604079 | 8.805824e-25 | 2.212398e-21 |
| HCC | exon_skip_33560 | rs13260856 | chr8:19611970 | 1.967431e-23 | 4.109929e-20 |
| HCC | exon_skip_33560 | rs10100589 | chr8:19563750 | 2.511723e-15 | 1.834885e-12 |
| HCC | exon_skip_180624 | rs7821446 | chr8:19411311 | 5.898318e-15 | 4.061527e-12 |
| HCC | exon_skip_33560 | rs6992213 | chr8:19577636 | 7.273407e-15 | 4.935285e-12 |
| HCC | exon_skip_33560 | rs6980558 | chr8:19571538 | 2.436979e-14 | 1.528101e-11 |
| HCC | exon_skip_180624 | rs4431609 | chr8:19436054 | 9.333406e-14 | 5.389013e-11 |
| HCC | exon_skip_33560 | rs6995903 | chr8:19560726 | 1.239316e-13 | 6.992809e-11 |
| HCC | exon_skip_33560 | rs7840615 | chr8:19582804 | 1.956113e-13 | 1.079168e-10 |
| HCC | exon_skip_33560 | rs11996428 | chr8:19558917 | 1.268956e-12 | 6.143845e-10 |
| HCC | exon_skip_33560 | rs13281882 | chr8:19569953 | 2.366389e-12 | 1.087658e-09 |
| HCC | exon_skip_33560 | rs13280511 | chr8:19540667 | 3.017284e-12 | 1.364895e-09 |
| HCC | exon_skip_33560 | rs10088454 | chr8:19537765 | 8.185241e-12 | 3.439087e-09 |
| HCC | exon_skip_33560 | rs7814548 | chr8:19540366 | 8.185241e-12 | 3.439087e-09 |
| HCC | exon_skip_33560 | rs17128604 | chr8:19539769 | 8.698206e-11 | 3.071541e-08 |
| HCC | exon_skip_33560 | rs10109274 | chr8:19536321 | 1.179134e-10 | 4.055948e-08 |
| HCC | exon_skip_33560 | rs10105363 | chr8:19538807 | 2.902268e-10 | 9.483097e-08 |
| HCC | exon_skip_180624 | rs6981898 | chr8:19448194 | 1.173589e-09 | 3.449693e-07 |
| HCC | exon_skip_180624 | rs4922031 | chr8:19465551 | 1.595752e-09 | 4.589041e-07 |
| HCC | exon_skip_180624 | rs13258090 | chr8:19428215 | 5.202603e-08 | 1.104184e-05 |
| HCC | exon_skip_180624 | rs12543061 | chr8:19428670 | 5.202603e-08 | 1.104184e-05 |
| HCC | exon_skip_33560 | rs12542189 | chr8:19608108 | 5.578025e-08 | 1.177144e-05 |
| HCC | exon_skip_180624 | rs11204039 | chr8:19422931 | 7.965532e-08 | 1.630102e-05 |
| HCC | exon_skip_180624 | rs10107416 | chr8:19428742 | 1.196163e-07 | 2.354580e-05 |
| HCC | exon_skip_33560 | rs6996732 | chr8:19560517 | 3.476871e-07 | 6.224536e-05 |
| HCC | exon_skip_33560 | rs7846346 | chr8:19628127 | 7.834608e-07 | 1.309309e-04 |
| HCC | exon_skip_180624 | rs10481426 | chr8:19421688 | 7.040058e-06 | 9.279574e-04 |
| HCC | exon_skip_180624 | rs11778175 | chr8:19410319 | 2.038141e-05 | 2.347043e-03 |
| HCC | exon_skip_180624 | rs12678270 | chr8:19422641 | 2.644884e-05 | 2.934553e-03 |
| HCC | exon_skip_180624 | rs6586829 | chr8:19424508 | 6.257502e-05 | 6.129566e-03 |
| HCC | exon_skip_33560 | rs7009836 | chr8:19551411 | 6.522867e-05 | 6.361018e-03 |
| HCC | exon_skip_180624 | rs10503653 | chr8:19473424 | 7.165858e-05 | 6.902968e-03 |
| HCC | exon_skip_180624 | rs13261824 | chr8:19456401 | 2.333434e-04 | 1.839825e-02 |
| HCC | exon_skip_180624 | rs7009836 | chr8:19551411 | 3.921241e-04 | 2.796989e-02 |
| PCC | exon_skip_33560 | rs13261887 | chr8:19604079 | 2.284701e-12 | 3.349356e-09 |
| PCC | exon_skip_33560 | rs13260856 | chr8:19611970 | 1.218192e-08 | 7.110075e-06 |
| PCC | exon_skip_33560 | rs7846346 | chr8:19628127 | 3.890088e-05 | 8.040144e-03 |
| PCC | exon_skip_180624 | rs7821446 | chr8:19411311 | 1.689051e-04 | 2.608366e-02 |
| PCC | exon_skip_180624 | rs4431609 | chr8:19436054 | 1.891215e-04 | 2.845908e-02 |
| PCC | exon_skip_33560 | rs10100589 | chr8:19563750 | 2.037854e-04 | 3.018725e-02 |
| PCC | exon_skip_33560 | rs17128604 | chr8:19539769 | 2.098665e-04 | 3.088656e-02 |
| PCC | exon_skip_33560 | rs7814548 | chr8:19540366 | 2.098665e-04 | 3.088656e-02 |
| PCC | exon_skip_33560 | rs6995903 | chr8:19560726 | 2.098665e-04 | 3.088656e-02 |
| PCC | exon_skip_33560 | rs10088454 | chr8:19537765 | 2.098665e-04 | 3.088656e-02 |
| PCC | exon_skip_33560 | rs6980558 | chr8:19571538 | 2.703799e-04 | 3.772722e-02 |
| DLPFC | exon_skip_180624 | rs4431609 | chr8:19436054 | 4.630704e-14 | 2.552893e-11 |
| DLPFC | exon_skip_180624 | rs7821446 | chr8:19411311 | 2.156138e-13 | 1.056210e-10 |
| DLPFC | exon_skip_180624 | rs4922031 | chr8:19465551 | 1.571888e-11 | 5.783542e-09 |
| DLPFC | exon_skip_180624 | rs6981898 | chr8:19448194 | 4.848168e-10 | 1.408439e-07 |
| DLPFC | exon_skip_180624 | rs13258090 | chr8:19428215 | 8.771373e-10 | 2.446071e-07 |
| DLPFC | exon_skip_180624 | rs12543061 | chr8:19428670 | 8.771373e-10 | 2.446071e-07 |
| DLPFC | exon_skip_180624 | rs11204039 | chr8:19422931 | 1.045491e-09 | 2.877133e-07 |
| DLPFC | exon_skip_180624 | rs10107416 | chr8:19428742 | 4.424099e-09 | 1.103007e-06 |
| DLPFC | exon_skip_180624 | rs10481426 | chr8:19421688 | 1.991700e-06 | 2.687396e-04 |
| DLPFC | exon_skip_180624 | rs10503653 | chr8:19473424 | 3.619530e-05 | 3.474828e-03 |
| DLPFC | exon_skip_180624 | rs11778175 | chr8:19410319 | 7.258345e-05 | 6.404887e-03 |
| DLPFC | exon_skip_180624 | rs13261824 | chr8:19456401 | 1.135516e-04 | 9.418074e-03 |
| DLPFC | exon_skip_180624 | rs6586833 | chr8:19448751 | 1.727729e-04 | 1.353047e-02 |
| DLPFC | exon_skip_180624 | rs17479085 | chr8:19419598 | 1.903274e-04 | 1.471892e-02 |
| DLPFC | exon_skip_180624 | rs6586829 | chr8:19424508 | 1.945309e-04 | 1.499539e-02 |
| DLPFC | exon_skip_180624 | rs4427190 | chr8:19463874 | 3.248988e-04 | 2.293832e-02 |
| DLPFC | exon_skip_180624 | rs7822046 | chr8:19434960 | 3.728005e-04 | 2.558493e-02 |
| DLPFC | exon_skip_180624 | rs3802328 | chr8:19439540 | 3.728005e-04 | 2.558493e-02 |
| DLPFC | exon_skip_180624 | rs4921645 | chr8:19446225 | 5.765372e-04 | 3.617825e-02 |
| DLPFC | exon_skip_180624 | rs4922028 | chr8:19446260 | 7.006915e-04 | 4.214907e-02 |
| DLPFC | exon_skip_180624 | rs3923920 | chr8:19501673 | 7.143318e-04 | 4.282357e-02 |
| DLPFC | exon_skip_180624 | rs7009836 | chr8:19551411 | 7.771645e-04 | 4.561486e-02 |
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Correlation with RNA binding proteins (RBPs) for CSGALNACT1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CSGALNACT1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CSGALNACT1 |
| 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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