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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 SERPINE2 |
Gene summary |
| Gene information | Gene symbol | SERPINE2 | Gene ID | 5270 |
| Gene name | serpin family E member 2 | |
| Synonyms | GDN|GDNPF|PI-7|PI7|PN-1|PN1|PNI | |
| Cytomap | 2q36.1 | |
| Type of gene | protein-coding | |
| Description | glia-derived nexinglial-derived neurite promoting factorpeptidase inhibitor 7protease nexin Iserpin E2serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P07093 | |
| Context | PubMed: SERPINE2 [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 |
| SERPINE2 | GO:0030195 | negative regulation of blood coagulation | 17379830 |
| SERPINE2 | GO:0045861 | negative regulation of proteolysis | 3997857|17379830 |
| SERPINE2 | GO:0048711 | positive regulation of astrocyte differentiation | 1691280 |
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Exon skipping events across known transcript of Ensembl for SERPINE2 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 SERPINE2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SERPINE2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347150 | 2 | 224840530:224840621:224842260:224842344:224845027:224845114 | 224842260:224842344 | ENSG00000135919.8 | ENST00000447280.2,ENST00000258405.4,ENST00000409840.3,ENST00000478966.1,ENST00000409304.1 |
| exon_skip_347170 | 2 | 224842260:224842344:224845027:224845114:224847397:224847498 | 224845027:224845114 | ENSG00000135919.8 | ENST00000447280.2,ENST00000409840.3,ENST00000478966.1,ENST00000409304.1 |
| exon_skip_347172 | 2 | 224842260:224842344:224845027:224845117:224847397:224847498 | 224845027:224845117 | ENSG00000135919.8 | ENST00000258405.4 |
| exon_skip_347182 | 2 | 224845027:224845114:224847397:224847498:224849468:224849667 | 224847397:224847498 | ENSG00000135919.8 | ENST00000447280.2,ENST00000409840.3,ENST00000478966.1,ENST00000409304.1 |
| exon_skip_347189 | 2 | 224849525:224849667:224856519:224856717:224862831:224863056 | 224856519:224856717 | ENSG00000135919.8 | ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1 |
| exon_skip_347195 | 2 | 224856519:224856717:224862831:224863059:224866358:224866639 | 224862831:224863059 | ENSG00000135919.8 | ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1 |
| exon_skip_347201 | 2 | 224862831:224863059:224866358:224866639:224903815:224904005 | 224866358:224866639 | ENSG00000135919.8 | ENST00000258405.4 |
| exon_skip_347202 | 2 | 224866490:224866639:224875059:224875103:224878571:224878659 | 224875059:224875103 | ENSG00000135919.8 | ENST00000432738.1 |
| exon_skip_347204 | 2 | 224866547:224866639:224875059:224875103:224903815:224904005 | 224875059:224875103 | ENSG00000135919.8 | ENST00000454956.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SERPINE2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_347150 | 2 | 224840530:224840621:224842260:224842344:224845027:224845114 | 224842260:224842344 | ENSG00000135919.8 | ENST00000409304.1,ENST00000258405.4,ENST00000409840.3,ENST00000447280.2,ENST00000478966.1 |
| exon_skip_347170 | 2 | 224842260:224842344:224845027:224845114:224847397:224847498 | 224845027:224845114 | ENSG00000135919.8 | ENST00000409304.1,ENST00000409840.3,ENST00000447280.2,ENST00000478966.1 |
| exon_skip_347172 | 2 | 224842260:224842344:224845027:224845117:224847397:224847498 | 224845027:224845117 | ENSG00000135919.8 | ENST00000258405.4 |
| exon_skip_347182 | 2 | 224845027:224845114:224847397:224847498:224849468:224849667 | 224847397:224847498 | ENSG00000135919.8 | ENST00000409304.1,ENST00000409840.3,ENST00000447280.2,ENST00000478966.1 |
| exon_skip_347189 | 2 | 224849525:224849667:224856519:224856717:224862831:224863056 | 224856519:224856717 | ENSG00000135919.8 | ENST00000409304.1,ENST00000258405.4,ENST00000409840.3,ENST00000447280.2,ENST00000432738.1 |
| exon_skip_347195 | 2 | 224856519:224856717:224862831:224863059:224866358:224866639 | 224862831:224863059 | ENSG00000135919.8 | ENST00000409304.1,ENST00000258405.4,ENST00000409840.3,ENST00000447280.2,ENST00000432738.1 |
| exon_skip_347201 | 2 | 224862831:224863059:224866358:224866639:224903815:224904005 | 224866358:224866639 | ENSG00000135919.8 | ENST00000258405.4 |
| exon_skip_347202 | 2 | 224866490:224866639:224875059:224875103:224878571:224878659 | 224875059:224875103 | ENSG00000135919.8 | ENST00000432738.1 |
| exon_skip_347204 | 2 | 224866547:224866639:224875059:224875103:224903815:224904005 | 224875059:224875103 | ENSG00000135919.8 | ENST00000454956.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SERPINE2 |
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 |
| ENST00000258405 | 224866358 | 224866639 | 3UTR-3CDS |
| ENST00000258405 | 224842260 | 224842344 | In-frame |
| ENST00000258405 | 224845027 | 224845117 | In-frame |
| ENST00000258405 | 224856519 | 224856717 | In-frame |
| ENST00000258405 | 224862831 | 224863059 | 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 |
| ENST00000258405 | 224866358 | 224866639 | 3UTR-3CDS |
| ENST00000258405 | 224842260 | 224842344 | In-frame |
| ENST00000258405 | 224845027 | 224845117 | In-frame |
| ENST00000258405 | 224856519 | 224856717 | In-frame |
| ENST00000258405 | 224862831 | 224863059 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SERPINE2 |
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 |
| ENST00000258405 | 2212 | 398 | 224862831 | 224863059 | 503 | 730 | 86 | 162 |
| ENST00000258405 | 2212 | 398 | 224856519 | 224856717 | 731 | 928 | 162 | 228 |
| ENST00000258405 | 2212 | 398 | 224845027 | 224845117 | 1229 | 1318 | 328 | 358 |
| ENST00000258405 | 2212 | 398 | 224842260 | 224842344 | 1319 | 1402 | 358 | 386 |
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 |
| ENST00000258405 | 2212 | 398 | 224862831 | 224863059 | 503 | 730 | 86 | 162 |
| ENST00000258405 | 2212 | 398 | 224856519 | 224856717 | 731 | 928 | 162 | 228 |
| ENST00000258405 | 2212 | 398 | 224845027 | 224845117 | 1229 | 1318 | 328 | 358 |
| ENST00000258405 | 2212 | 398 | 224842260 | 224842344 | 1319 | 1402 | 358 | 386 |
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 |
| P07093 | 86 | 162 | 109 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 136 | 140 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 86 | 162 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P07093 | 86 | 162 | 159 | 159 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P07093 | 86 | 162 | 89 | 100 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 102 | 104 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 124 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 146 | 160 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 159 | 159 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P07093 | 86 | 162 | 86 | 88 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 161 | 163 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 181 | 189 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 193 | 195 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 203 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 210 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 162 | 228 | 214 | 232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 162 | 228 | 171 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 199 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 204 | 204 | Natural variant | ID=VAR_036027;Note=In a breast cancer sample%3B somatic mutation. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| P07093 | 162 | 228 | 161 | 163 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 176 | 178 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 328 | 358 | 329 | 330 | Alternative sequence | ID=VSP_038367;Note=In isoform 2 and isoform 3. TG->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3427015;Dbxref=PMID:14702039,PMID:15489334,PMID:3427015 |
| P07093 | 328 | 358 | 328 | 330 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 328 | 358 | 338 | 347 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 328 | 358 | 354 | 356 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 328 | 358 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 328 | 358 | 357 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 358 | 386 | 370 | 372 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 358 | 386 | 377 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 358 | 386 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 358 | 386 | 357 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 358 | 386 | 365 | 366 | Site | Note=Reactive bond;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P07093 | 358 | 386 | 384 | 387 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
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 |
| P07093 | 86 | 162 | 109 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 136 | 140 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 86 | 162 | 118 | 118 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P07093 | 86 | 162 | 159 | 159 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P07093 | 86 | 162 | 89 | 100 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 102 | 104 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 124 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 146 | 160 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 159 | 159 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P07093 | 86 | 162 | 86 | 88 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 86 | 162 | 161 | 163 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 181 | 189 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 193 | 195 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 203 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 210 | 212 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 162 | 228 | 214 | 232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 162 | 228 | 171 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 199 | 201 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 204 | 204 | Natural variant | ID=VAR_036027;Note=In a breast cancer sample%3B somatic mutation. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| P07093 | 162 | 228 | 161 | 163 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 162 | 228 | 176 | 178 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 328 | 358 | 329 | 330 | Alternative sequence | ID=VSP_038367;Note=In isoform 2 and isoform 3. TG->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3427015;Dbxref=PMID:14702039,PMID:15489334,PMID:3427015 |
| P07093 | 328 | 358 | 328 | 330 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 328 | 358 | 338 | 347 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 328 | 358 | 354 | 356 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 328 | 358 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 328 | 358 | 357 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 358 | 386 | 370 | 372 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 358 | 386 | 377 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
| P07093 | 358 | 386 | 20 | 398 | Chain | ID=PRO_0000032504;Note=Glia-derived nexin |
| P07093 | 358 | 386 | 357 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY7 |
| P07093 | 358 | 386 | 365 | 366 | Site | Note=Reactive bond;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P07093 | 358 | 386 | 384 | 387 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DY0 |
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SNVs in the skipped exons for SERPINE2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_347170 | 224845028 | 224845114 | 224845105 | 224845105 | Frame_Shift_Del | T | - | p.N332fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_347172 | 224845028 | 224845117 | 224845105 | 224845105 | Frame_Shift_Del | T | - | p.N332fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_347201 | 224866359 | 224866639 | 224866413 | 224866413 | Frame_Shift_Del | C | - | p.A69fs |
| HNSC | TCGA-MT-A67F-01 | exon_skip_347189 | 224856520 | 224856717 | 224856626 | 224856626 | Nonsense_Mutation | C | T | p.W193* |
| STAD | TCGA-HF-7132-01 | exon_skip_347195 | 224862832 | 224863059 | 224863030 | 224863030 | Nonsense_Mutation | T | A | p.K109X |
| STAD | TCGA-HF-7132-01 | exon_skip_347195 | 224862832 | 224863059 | 224863030 | 224863030 | Nonsense_Mutation | T | A | p.K97* |
| LIHC | TCGA-DD-AADW-01 | exon_skip_347182 | 224847398 | 224847498 | 224847396 | 224847399 | Splice_Site | TACT | - | . |
- 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 |
| 22RV1_PROSTATE | 224842261 | 224842344 | 224842281 | 224842281 | Frame_Shift_Del | A | - | p.F380fs |
| COLO684_ENDOMETRIUM | 224866359 | 224866639 | 224866451 | 224866452 | Frame_Shift_Ins | - | G | p.H56fs |
| CW2_LARGE_INTESTINE | 224842261 | 224842344 | 224842303 | 224842303 | Missense_Mutation | C | T | p.V373I |
| HEC6_ENDOMETRIUM | 224845028 | 224845114 | 224845042 | 224845042 | Missense_Mutation | G | T | p.A354D |
| HEC6_ENDOMETRIUM | 224845028 | 224845117 | 224845042 | 224845042 | Missense_Mutation | G | T | p.A354D |
| C10_LARGE_INTESTINE | 224845028 | 224845114 | 224845076 | 224845076 | Missense_Mutation | C | T | p.A343T |
| C10_LARGE_INTESTINE | 224845028 | 224845117 | 224845076 | 224845076 | Missense_Mutation | C | T | p.A343T |
| SW948_LARGE_INTESTINE | 224845028 | 224845114 | 224845093 | 224845093 | Missense_Mutation | G | T | p.S337Y |
| SW948_LARGE_INTESTINE | 224845028 | 224845117 | 224845093 | 224845093 | Missense_Mutation | G | T | p.S337Y |
| HEC251_ENDOMETRIUM | 224847398 | 224847498 | 224847452 | 224847452 | Missense_Mutation | G | T | p.L311I |
| HEC50B_ENDOMETRIUM | 224847398 | 224847498 | 224847463 | 224847463 | Missense_Mutation | G | T | p.P307Q |
| HOP92_LUNG | 224856520 | 224856717 | 224856543 | 224856543 | Missense_Mutation | G | A | p.A221V |
| SNUC2A_LARGE_INTESTINE | 224856520 | 224856717 | 224856583 | 224856583 | Missense_Mutation | C | T | p.V208M |
| SNUC2B_LARGE_INTESTINE | 224856520 | 224856717 | 224856583 | 224856583 | Missense_Mutation | C | T | p.V208M |
| HCC1143_BREAST | 224856520 | 224856717 | 224856593 | 224856593 | Missense_Mutation | T | A | p.K204N |
| SW684_SOFT_TISSUE | 224856520 | 224856717 | 224856596 | 224856596 | Missense_Mutation | C | A | p.K203N |
| HCC2998_LARGE_INTESTINE | 224856520 | 224856717 | 224856690 | 224856690 | Missense_Mutation | T | G | p.D172A |
| NCIH1339_LUNG | 224862832 | 224863059 | 224862925 | 224862925 | Missense_Mutation | C | G | p.D132H |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 224862832 | 224863059 | 224862964 | 224862964 | Missense_Mutation | C | T | p.A119T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 224862832 | 224863059 | 224862982 | 224862982 | Missense_Mutation | C | T | p.A113T |
| PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 224862832 | 224863059 | 224863056 | 224863056 | Missense_Mutation | A | G | p.V88A |
| NCIH1793_LUNG | 224866359 | 224866639 | 224866365 | 224866365 | Missense_Mutation | C | T | p.V85I |
| HEC108_ENDOMETRIUM | 224866359 | 224866639 | 224866367 | 224866367 | Missense_Mutation | C | T | p.G84D |
| HEC108_ENDOMETRIUM | 224866359 | 224866639 | 224866380 | 224866380 | Missense_Mutation | C | T | p.V80M |
| SNU1040_LARGE_INTESTINE | 224866359 | 224866639 | 224866442 | 224866442 | Missense_Mutation | G | A | p.A59V |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 224866359 | 224866639 | 224866443 | 224866443 | Missense_Mutation | C | T | p.A59T |
| CW2_LARGE_INTESTINE | 224866359 | 224866639 | 224866443 | 224866443 | Missense_Mutation | C | T | p.A59T |
| NCIH510_LUNG | 224866359 | 224866639 | 224866554 | 224866554 | Missense_Mutation | A | T | p.F22I |
| MZ7B_MATCHED_NORMAL_TISSUE | 224866359 | 224866639 | 224866594 | 224866594 | Missense_Mutation | G | C | p.F8L |
| MZ7MEL_SKIN | 224866359 | 224866639 | 224866594 | 224866594 | Missense_Mutation | G | C | p.F8L |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 224866359 | 224866639 | 224866497 | 224866497 | Nonsense_Mutation | G | A | p.Q41* |
| SKLU1_LUNG | 224866359 | 224866639 | 224866610 | 224866610 | Nonsense_Mutation | C | T | p.W3* |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 224862832 | 224863059 | 224862833 | 224862833 | Splice_Site | C | T | p.R162R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINE2 |
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 |
| exon_skip_347195 | 2 | 224856519:224856717:224862831:224863059:224866358:224866639 | 224862831:224863059 | ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1 | LGG | rs12457 | chr2:224862842 | A/G | 2.59e-04 |
| exon_skip_347195 | 2 | 224856519:224856717:224862831:224863059:224866358:224866639 | 224862831:224863059 | ENST00000447280.2,ENST00000258405.4,ENST00000432738.1,ENST00000409840.3,ENST00000409304.1 | LGG | rs12457 | chr2:224862842 | A/G | 3.86e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINE2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINE2 |
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RelatedDrugs for SERPINE2 |
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 SERPINE2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |