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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 SIGLEC15 |
 Gene summary |
| Gene information | Gene symbol | SIGLEC15 | Gene ID | 284266 |
| Gene name | sialic acid binding Ig like lectin 15 | |
| Synonyms | CD33L3|HsT1361|SIGLEC-15 | |
| Cytomap | 18q12.3 | |
| Type of gene | protein-coding | |
| Description | sialic acid-binding Ig-like lectin 15CD33 antigen-like 3CD33 molecule-like 3 | |
| Modification date | 20180403 | |
| UniProtAcc | Q6ZMC9 | |
| Context | PubMed: SIGLEC15 [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 SIGLEC15 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 SIGLEC15 |
| 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 SIGLEC15 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296736 | 18 | 43416993:43417053:43417477:43417861:43418682:43419060 | 43417477:43417861 | ENSG00000197046.7 | ENST00000389474.3 |
| exon_skip_296737 | 18 | 43418682:43419060:43420175:43420206:43422070:43422189 | 43420175:43420206 | ENSG00000197046.7 | ENST00000546268.1,ENST00000593178.2,ENST00000602118.2,ENST00000389474.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SIGLEC15 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296737 | 18 | 43418682:43419060:43420175:43420206:43422070:43422189 | 43420175:43420206 | ENSG00000197046.7 | ENST00000389474.3,ENST00000602118.2,ENST00000546268.1,ENST00000593178.2 |
| 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 SIGLEC15 |
| 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 |
| ENST00000389474 | 43420175 | 43420206 | Frame-shift |
| ENST00000389474 | 43417477 | 43417861 | 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 |
| ENST00000389474 | 43420175 | 43420206 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SIGLEC15 |
| 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 |
| ENST00000389474 | 1590 | 328 | 43417477 | 43417861 | 330 | 713 | 37 | 165 |
| 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 |
| 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 |
| Q6ZMC9 | 37 | 165 | 13 | 166 | Alternative sequence | ID=VSP_056818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6ZMC9 | 37 | 165 | 143 | 143 | Binding site | Note=Sialic acid;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6ZMC9 | 37 | 165 | 20 | 328 | Chain | ID=PRO_0000294369;Note=Sialic acid-binding Ig-like lectin 15 |
| Q6ZMC9 | 37 | 165 | 64 | 142 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q6ZMC9 | 37 | 165 | 95 | 104 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q6ZMC9 | 37 | 165 | 40 | 158 | Domain | Note=Ig-like V-type |
| Q6ZMC9 | 37 | 165 | 143 | 143 | Mutagenesis | Note=Abrogates glycan-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17483134;Dbxref=PMID:17483134 |
| Q6ZMC9 | 37 | 165 | 20 | 263 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
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SNVs in the skipped exons for SIGLEC15 |
| - 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 |
| HNSC | TCGA-CV-A465-01 | exon_skip_296736 | 43417478 | 43417861 | 43417720 | 43417720 | Frame_Shift_Del | A | - | p.N119fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_296737 | 43420176 | 43420206 | 43420188 | 43420188 | Frame_Shift_Del | C | - | p.T296fs |
| - 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 |
| DMS454_LUNG | 43417478 | 43417861 | 43417523 | 43417523 | Missense_Mutation | G | A | p.S53N |
| DMS454_LUNG | 43417478 | 43417861 | 43417524 | 43417524 | Missense_Mutation | C | A | p.S53R |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 43417478 | 43417861 | 43417546 | 43417546 | Missense_Mutation | G | T | p.V61L |
| RKO_LARGE_INTESTINE | 43417478 | 43417861 | 43417649 | 43417649 | Missense_Mutation | G | A | p.C95Y |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43417478 | 43417861 | 43417669 | 43417669 | Missense_Mutation | G | A | p.E102K |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43417478 | 43417861 | 43417775 | 43417775 | Missense_Mutation | A | C | p.D137A |
| LU135_LUNG | 43417478 | 43417861 | 43417777 | 43417777 | Missense_Mutation | C | A | p.R138S |
| SW948_LARGE_INTESTINE | 43417478 | 43417861 | 43417804 | 43417804 | Missense_Mutation | G | T | p.A147S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43417478 | 43417861 | 43417841 | 43417841 | Missense_Mutation | G | T | p.G159V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIGLEC15 |
| 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 SIGLEC15 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIGLEC15 |
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RelatedDrugs for SIGLEC15 |
| 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 |
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RelatedDiseases for SIGLEC15 |
| 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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