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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 SPPL2A |
 Gene summary |
| Gene information | Gene symbol | SPPL2A | Gene ID | 84888 |
| Gene name | signal peptide peptidase like 2A | |
| Synonyms | IMP3|PSL2 | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | signal peptide peptidase-like 2AIMP-3SPP-like 2Aintramembrane cleaving proteaseintramembrane protease 3presenilin-like protein 2 | |
| Modification date | 20200313 | |
| UniProtAcc | H0YNA2, H0YNA7, | |
| Context | - 15385547(Consensus Analysis of Signal Peptide Peptidase and Homologous Human Aspartic Proteases Reveals Opposite Topology of Catalytic Domains Compared With Presenilins) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SPPL2A | GO:0006509 | membrane protein ectodomain proteolysis | 16829951|17965014 |
| SPPL2A | GO:0031293 | membrane protein intracellular domain proteolysis | 16829951|17557115 |
| SPPL2A | GO:0033619 | membrane protein proteolysis | 2313285 |
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Gene structures and expression levels for SPPL2A |
| 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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ENSG00000138600
| 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 | ENST00000559293.1 | SPPL2A-205:lncRNA:SPPL2A | 5.335255e-01 | -1.639008e+00 | 1.667617e-05 | 1.626896e-04 |
| CB | UP | ENST00000558414.1 | SPPL2A-203:protein_coding:SPPL2A | 6.556699e+00 | 1.255224e+00 | 1.461826e-02 | 4.724893e-02 |
| 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 SPPL2A |
| 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_114129 | chr15 | 50726321:50726377:50730965:50731039:50732603:50732684 | 50730965:50731039 |
| exon_skip_14400 | chr15 | 50725221:50725323:50726073:50726126:50726321:50726377 | 50726073:50726126 |
| exon_skip_170192 | chr15 | 50730965:50731039:50732603:50732684:50736101:50736202 | 50732603:50732684 |
| exon_skip_184186 | chr15 | 50722173:50722201:50725221:50725323:50726321:50726377 | 50725221:50725323 |
| exon_skip_263932 | chr15 | 50707668:50707874:50719940:50720100:50722124:50722201 | 50719940:50720100 |
| exon_skip_37167 | chr15 | 50725221:50725323:50726321:50726377:50730965:50731039 | 50726321:50726377 |
| exon_skip_3988 | chr15 | 50726321:50726377:50730965:50731039:50736101:50736202 | 50730965:50731039 |
| exon_skip_73223 | chr15 | 50707448:50707874:50719940:50720100:50722124:50722201 | 50719940:50720100 |
| exon_skip_79345 | chr15 | 50726321:50726377:50730965:50731039:50732603:50732665 | 50730965:50731039 |
| 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 SPPL2A |
| 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 |
| ENST00000261854 | 50719940 | 50720100 | Frame-shift |
| ENST00000261854 | 50725221 | 50725323 | Frame-shift |
| ENST00000261854 | 50732603 | 50732684 | Frame-shift |
| ENST00000261854 | 50730965 | 50731039 | 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 |
| ENST00000261854 | 50719940 | 50720100 | Frame-shift |
| ENST00000261854 | 50732603 | 50732684 | Frame-shift |
| ENST00000261854 | 50730965 | 50731039 | 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 |
| ENST00000261854 | 50719940 | 50720100 | Frame-shift |
| ENST00000261854 | 50725221 | 50725323 | Frame-shift |
| ENST00000261854 | 50732603 | 50732684 | Frame-shift |
| ENST00000261854 | 50726321 | 50726377 | In-frame |
| ENST00000261854 | 50730965 | 50731039 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPPL2A |
p-ENSG00000138600_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 |
| ENST00000261854 | 7389 | 520 | 50730965 | 50731039 | 1290 | 1363 | 338 | 362 |
| 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 |
| ENST00000261854 | 7389 | 520 | 50730965 | 50731039 | 1290 | 1363 | 338 | 362 |
| 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 |
| ENST00000261854 | 7389 | 520 | 50730965 | 50731039 | 1290 | 1363 | 338 | 362 |
| ENST00000261854 | 7389 | 520 | 50726321 | 50726377 | 1365 | 1420 | 363 | 381 |
| 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 |
| Q8TCT8 | 338 | 362 | 351 | 351 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P49810 |
| Q8TCT8 | 338 | 362 | 26 | 520 | Chain | ID=PRO_0000073910;Note=Signal peptide peptidase-like 2A |
| Q8TCT8 | 338 | 362 | 333 | 340 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TCT8 | 338 | 362 | 362 | 399 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15385547;Dbxref=PMID:15385547 |
| Q8TCT8 | 338 | 362 | 341 | 361 | Transmembrane | Note=Helical;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 |
| Q8TCT8 | 338 | 362 | 351 | 351 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P49810 |
| Q8TCT8 | 338 | 362 | 26 | 520 | Chain | ID=PRO_0000073910;Note=Signal peptide peptidase-like 2A |
| Q8TCT8 | 338 | 362 | 333 | 340 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TCT8 | 338 | 362 | 362 | 399 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15385547;Dbxref=PMID:15385547 |
| Q8TCT8 | 338 | 362 | 341 | 361 | Transmembrane | Note=Helical;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 |
| Q8TCT8 | 338 | 362 | 351 | 351 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P49810 |
| Q8TCT8 | 338 | 362 | 26 | 520 | Chain | ID=PRO_0000073910;Note=Signal peptide peptidase-like 2A |
| Q8TCT8 | 338 | 362 | 333 | 340 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TCT8 | 338 | 362 | 362 | 399 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15385547;Dbxref=PMID:15385547 |
| Q8TCT8 | 338 | 362 | 341 | 361 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TCT8 | 363 | 381 | 26 | 520 | Chain | ID=PRO_0000073910;Note=Signal peptide peptidase-like 2A |
| Q8TCT8 | 363 | 381 | 362 | 399 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15385547;Dbxref=PMID:15385547 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SPPL2A |
| 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 SPPL2A |
| - 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 SPPL2A |
| 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 SPPL2A |
| 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 SPPL2A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | ELAVL1 | exon_skip_73223 | -4.624085e-01 | 1.322948e-02 |
| IFG | ZNF638 | exon_skip_73223 | -4.746432e-01 | 1.070808e-02 |
| IFG | SNRPA | exon_skip_73223 | -4.532235e-01 | 1.543113e-02 |
| IFG | HNRNPA2B1 | exon_skip_73223 | -4.034907e-01 | 3.323793e-02 |
| IFG | FUBP1 | exon_skip_114129 | -4.030470e-01 | 4.119174e-02 |
| IFG | MATR3 | exon_skip_170192 | -4.847293e-01 | 1.039341e-02 |
| IFG | ILF2 | exon_skip_170192 | -4.165866e-01 | 3.065097e-02 |
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RelatedDrugs for SPPL2A |
| 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 SPPL2A |
| 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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