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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 SIGLEC8 |
 Gene summary |
| Gene information | Gene symbol | SIGLEC8 | Gene ID | 27181 |
| Gene name | sialic acid binding Ig like lectin 8 | |
| Synonyms | SAF2|SIGLEC-8|SIGLEC8L | |
| Cytomap | 19q13.41 | |
| Type of gene | protein-coding | |
| Description | sialic acid-binding Ig-like lectin 8CDw329SAF-2sialoadhesin family member 2 | |
| Modification date | 20200313 | |
| UniProtAcc | C9JT30, Q9NYZ4, | |
| 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 SIGLEC8 |
| 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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ENSG00000105366
| 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 |
| HCC | UP | ENST00000430817.5 | SIGLEC8-203:protein_coding:SIGLEC8 | 3.054705e+00 | 8.232091e-01 | 1.640808e-03 | 4.622061e-02 |
| STG | UP | ENST00000321424.7 | SIGLEC8-201:protein_coding:SIGLEC8 | 8.039623e+01 | 8.315559e-01 | 4.540771e-06 | 1.613648e-03 |
| PG | UP | ENST00000321424.7 | SIGLEC8-201:protein_coding:SIGLEC8 | 9.369730e+01 | 8.283601e-01 | 8.466937e-10 | 3.622943e-07 |
| PG | UP | ENST00000597352.1 | SIGLEC8-204:lncRNA:SIGLEC8 | 9.594318e-01 | 2.039951e+00 | 5.605449e-05 | 1.789820e-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 SIGLEC8 |
| 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_183144 | chr19 | 51455496:51455687:51457184:51457231:51457934:51458452 | 51457184:51457231 |
| exon_skip_234691 | chr19 | 51457184:51457231:51457461:51457739:51457934:51458452 | 51457461:51457739 |
| 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 SIGLEC8 |
| 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 |
| ENST00000321424 | 51457461 | 51457739 | 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 |
| ENST00000321424 | 51457461 | 51457739 | 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 |
| ENST00000321424 | 51457461 | 51457739 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SIGLEC8 |
p-ENSG00000105366_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 |
| ENST00000321424 | 2966 | 499 | 51457461 | 51457739 | 522 | 799 | 151 | 244 |
| 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 |
| ENST00000321424 | 2966 | 499 | 51457461 | 51457739 | 522 | 799 | 151 | 244 |
| 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 |
| ENST00000321424 | 2966 | 499 | 51457461 | 51457739 | 522 | 799 | 151 | 244 |
| 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 |
| Q9NYZ4 | 151 | 244 | 152 | 245 | Alternative sequence | ID=VSP_002559;Note=In isoform 2. ALTHRPDILILGTLESGHSRNLTCSVPWACKQGTPPMISWIGASVSSPGPTTARSSVLTLTPKPQDHGTSLTCQVTLPGTGVTTTSTVRLDVSY->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9NYZ4 | 151 | 244 | 146 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N7A |
| Q9NYZ4 | 151 | 244 | 153 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N7A |
| Q9NYZ4 | 151 | 244 | 17 | 499 | Chain | ID=PRO_0000014948;Note=Sialic acid-binding Ig-like lectin 8 |
| Q9NYZ4 | 151 | 244 | 42 | 181 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9NYZ4 | 151 | 244 | 175 | 224 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9NYZ4 | 151 | 244 | 157 | 240 | Domain | Note=Ig-like C2-type 1 |
| Q9NYZ4 | 151 | 244 | 172 | 172 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYZ4 | 151 | 244 | 170 | 170 | Natural variant | ID=VAR_021487;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10409962,PMID:15489334 |
| Q9NYZ4 | 151 | 244 | 17 | 363 | Topological domain | Note=Extracellular;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 |
| Q9NYZ4 | 151 | 244 | 152 | 245 | Alternative sequence | ID=VSP_002559;Note=In isoform 2. ALTHRPDILILGTLESGHSRNLTCSVPWACKQGTPPMISWIGASVSSPGPTTARSSVLTLTPKPQDHGTSLTCQVTLPGTGVTTTSTVRLDVSY->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9NYZ4 | 151 | 244 | 146 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N7A |
| Q9NYZ4 | 151 | 244 | 153 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N7A |
| Q9NYZ4 | 151 | 244 | 17 | 499 | Chain | ID=PRO_0000014948;Note=Sialic acid-binding Ig-like lectin 8 |
| Q9NYZ4 | 151 | 244 | 42 | 181 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9NYZ4 | 151 | 244 | 175 | 224 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9NYZ4 | 151 | 244 | 157 | 240 | Domain | Note=Ig-like C2-type 1 |
| Q9NYZ4 | 151 | 244 | 172 | 172 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYZ4 | 151 | 244 | 170 | 170 | Natural variant | ID=VAR_021487;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10409962,PMID:15489334 |
| Q9NYZ4 | 151 | 244 | 17 | 363 | Topological domain | Note=Extracellular;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 |
| Q9NYZ4 | 151 | 244 | 152 | 245 | Alternative sequence | ID=VSP_002559;Note=In isoform 2. ALTHRPDILILGTLESGHSRNLTCSVPWACKQGTPPMISWIGASVSSPGPTTARSSVLTLTPKPQDHGTSLTCQVTLPGTGVTTTSTVRLDVSY->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q9NYZ4 | 151 | 244 | 146 | 151 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N7A |
| Q9NYZ4 | 151 | 244 | 153 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N7A |
| Q9NYZ4 | 151 | 244 | 17 | 499 | Chain | ID=PRO_0000014948;Note=Sialic acid-binding Ig-like lectin 8 |
| Q9NYZ4 | 151 | 244 | 42 | 181 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9NYZ4 | 151 | 244 | 175 | 224 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9NYZ4 | 151 | 244 | 157 | 240 | Domain | Note=Ig-like C2-type 1 |
| Q9NYZ4 | 151 | 244 | 172 | 172 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYZ4 | 151 | 244 | 170 | 170 | Natural variant | ID=VAR_021487;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10409962,PMID:15489334 |
| Q9NYZ4 | 151 | 244 | 17 | 363 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SIGLEC8 |
| 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 |
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SNVs in the skipped exons for SIGLEC8 |
| - 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 SIGLEC8 |
| 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 SIGLEC8 |
| 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 SIGLEC8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SIGLEC8 |
| 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 SIGLEC8 |
| 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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