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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 SERPINF2 |
 Gene summary |
| Gene information | Gene symbol | SERPINF2 | Gene ID | 5345 |
| Gene name | serpin family F member 2 | |
| Synonyms | A2AP|AAP|ALPHA-2-PI|API|PLI | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | alpha-2-antiplasminalpha-2-APalpha-2-plasmin inhibitorserine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2serpin F2serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epit | |
| Modification date | 20180523 | |
| UniProtAcc | P08697 | |
| Context | PubMed: SERPINF2 [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 |
| SERPINF2 | GO:0010757 | negative regulation of plasminogen activation | 134998 |
| SERPINF2 | GO:0032967 | positive regulation of collagen biosynthetic process | 17958745 |
| SERPINF2 | GO:0045597 | positive regulation of cell differentiation | 20008146 |
| SERPINF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17958745 |
| SERPINF2 | GO:0046330 | positive regulation of JNK cascade | 20008146 |
| SERPINF2 | GO:0051496 | positive regulation of stress fiber assembly | 20008146 |
| SERPINF2 | GO:0051918 | negative regulation of fibrinolysis | 134998 |
| SERPINF2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 20008146 |
| SERPINF2 | GO:0071636 | positive regulation of transforming growth factor beta production | 17958745|20008146 |
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Exon skipping events across known transcript of Ensembl for SERPINF2 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 SERPINF2 |
| 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 SERPINF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_147603 | 17 | 1646162:1646202:1648285:1648352:1648468:1648507 | 1648285:1648352 | ENSG00000167711.9 | ENST00000450523.2,ENST00000324015.3,ENST00000453723.1 |
| exon_skip_147619 | 17 | 1648285:1648352:1648468:1648507:1648626:1648689 | 1648468:1648507 | ENSG00000167711.9 | ENST00000450523.2,ENST00000324015.3,ENST00000453066.1,ENST00000453723.1,ENST00000382061.4 |
| exon_skip_147621 | 17 | 1648468:1648507:1648626:1648699:1650312:1650456 | 1648626:1648699 | ENSG00000167711.9 | ENST00000450523.2 |
| exon_skip_147622 | 17 | 1648626:1648689:1649001:1649203:1650312:1650456 | 1649001:1649203 | ENSG00000167711.9 | ENST00000324015.3,ENST00000453066.1,ENST00000382061.4 |
| exon_skip_147626 | 17 | 1650312:1650456:1650602:1650806:1651891:1651941 | 1650602:1650806 | ENSG00000167711.9 | ENST00000450523.2,ENST00000324015.3,ENST00000453066.1,ENST00000382061.4 |
| exon_skip_147628 | 17 | 1650602:1650806:1651891:1652034:1655879:1655957 | 1651891:1652034 | ENSG00000167711.9 | ENST00000450523.2,ENST00000324015.3,ENST00000382061.4 |
| exon_skip_147680 | 17 | 1651891:1652034:1655879:1656084:1657415:1657494 | 1655879:1656084 | ENSG00000167711.9 | ENST00000450523.2,ENST00000324015.3,ENST00000453723.1,ENST00000382061.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SERPINF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_147619 | 17 | 1648285:1648352:1648468:1648507:1648626:1648689 | 1648468:1648507 | ENSG00000167711.9 | ENST00000453066.1,ENST00000324015.3,ENST00000450523.2,ENST00000453723.1,ENST00000382061.4 |
| exon_skip_147621 | 17 | 1648468:1648507:1648626:1648699:1650312:1650456 | 1648626:1648699 | ENSG00000167711.9 | ENST00000450523.2 |
| exon_skip_147622 | 17 | 1648626:1648689:1649001:1649203:1650312:1650456 | 1649001:1649203 | ENSG00000167711.9 | ENST00000453066.1,ENST00000324015.3,ENST00000382061.4 |
| exon_skip_147626 | 17 | 1650312:1650456:1650602:1650806:1651891:1651941 | 1650602:1650806 | ENSG00000167711.9 | ENST00000453066.1,ENST00000324015.3,ENST00000450523.2,ENST00000382061.4 |
| exon_skip_147628 | 17 | 1650602:1650806:1651891:1652034:1655879:1655957 | 1651891:1652034 | ENSG00000167711.9 | ENST00000324015.3,ENST00000450523.2,ENST00000382061.4 |
| exon_skip_147680 | 17 | 1651891:1652034:1655879:1656084:1657415:1657494 | 1655879:1656084 | ENSG00000167711.9 | ENST00000324015.3,ENST00000450523.2,ENST00000453723.1,ENST00000382061.4 |
| 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 SERPINF2 |
| 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 |
| ENST00000324015 | 1648285 | 1648352 | 5CDS-5UTR |
| ENST00000324015 | 1649001 | 1649203 | Frame-shift |
| ENST00000382061 | 1649001 | 1649203 | Frame-shift |
| ENST00000324015 | 1651891 | 1652034 | Frame-shift |
| ENST00000382061 | 1651891 | 1652034 | Frame-shift |
| ENST00000324015 | 1655879 | 1656084 | Frame-shift |
| ENST00000382061 | 1655879 | 1656084 | Frame-shift |
| ENST00000324015 | 1648468 | 1648507 | In-frame |
| ENST00000382061 | 1648468 | 1648507 | In-frame |
| ENST00000324015 | 1650602 | 1650806 | In-frame |
| ENST00000382061 | 1650602 | 1650806 | 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 |
| ENST00000324015 | 1649001 | 1649203 | Frame-shift |
| ENST00000382061 | 1649001 | 1649203 | Frame-shift |
| ENST00000324015 | 1651891 | 1652034 | Frame-shift |
| ENST00000382061 | 1651891 | 1652034 | Frame-shift |
| ENST00000324015 | 1655879 | 1656084 | Frame-shift |
| ENST00000382061 | 1655879 | 1656084 | Frame-shift |
| ENST00000324015 | 1648468 | 1648507 | In-frame |
| ENST00000382061 | 1648468 | 1648507 | In-frame |
| ENST00000324015 | 1650602 | 1650806 | In-frame |
| ENST00000382061 | 1650602 | 1650806 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SERPINF2 |
| 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 |
| ENST00000324015 | 2301 | 491 | 1648468 | 1648507 | 141 | 179 | 21 | 34 |
| ENST00000382061 | 2282 | 491 | 1648468 | 1648507 | 119 | 157 | 21 | 34 |
| ENST00000324015 | 2301 | 491 | 1650602 | 1650806 | 589 | 792 | 170 | 238 |
| ENST00000382061 | 2282 | 491 | 1650602 | 1650806 | 567 | 770 | 170 | 238 |
| 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 |
| ENST00000324015 | 2301 | 491 | 1648468 | 1648507 | 141 | 179 | 21 | 34 |
| ENST00000382061 | 2282 | 491 | 1648468 | 1648507 | 119 | 157 | 21 | 34 |
| ENST00000324015 | 2301 | 491 | 1650602 | 1650806 | 589 | 792 | 170 | 238 |
| ENST00000382061 | 2282 | 491 | 1650602 | 1650806 | 567 | 770 | 170 | 238 |
| 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 |
| P08697 | 21 | 34 | 27 | 27 | Natural variant | ID=VAR_013252;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=PMID:10583218 |
| P08697 | 21 | 34 | 27 | 27 | Natural variant | ID=VAR_013252;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=PMID:10583218 |
| P08697 | 21 | 34 | 33 | 33 | Natural variant | ID=VAR_013253;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=dbSNP:rs2070863,PMID:10583218 |
| P08697 | 21 | 34 | 33 | 33 | Natural variant | ID=VAR_013253;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=dbSNP:rs2070863,PMID:10583218 |
| P08697 | 21 | 34 | 28 | 39 | Propeptide | ID=PRO_0000032511;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14751930,ECO:0000269|PubMed:16223769,ECO:0000269|PubMed:21075,ECO:0000269|PubMed:2440681;Dbxref=PMID:14751930,PMID:16223769,PMID:21075,PMID:2440681 |
| P08697 | 21 | 34 | 28 | 39 | Propeptide | ID=PRO_0000032511;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14751930,ECO:0000269|PubMed:16223769,ECO:0000269|PubMed:21075,ECO:0000269|PubMed:2440681;Dbxref=PMID:14751930,PMID:16223769,PMID:21075,PMID:2440681 |
| P08697 | 21 | 34 | 1 | 27 | Signal peptide | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1385210,ECO:0000269|PubMed:8484741;Dbxref=PMID:1385210,PMID:8484741 |
| P08697 | 21 | 34 | 1 | 27 | Signal peptide | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1385210,ECO:0000269|PubMed:8484741;Dbxref=PMID:1385210,PMID:8484741 |
| P08697 | 170 | 238 | 40 | 491 | Chain | ID=PRO_0000032512;Note=Alpha-2-antiplasmin |
| P08697 | 170 | 238 | 40 | 491 | Chain | ID=PRO_0000032512;Note=Alpha-2-antiplasmin |
| P08697 | 170 | 238 | 176 | 176 | Natural variant | ID=VAR_013254;Note=In APLID%3B variant Okinawa%3B probably blocks intracellular transport of alpha-2-plasmin inhibitor. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2572590;Dbxref=PMID:2572590 |
| P08697 | 170 | 238 | 176 | 176 | Natural variant | ID=VAR_013254;Note=In APLID%3B variant Okinawa%3B probably blocks intracellular transport of alpha-2-plasmin inhibitor. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2572590;Dbxref=PMID:2572590 |
| 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 |
| P08697 | 21 | 34 | 27 | 27 | Natural variant | ID=VAR_013252;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=PMID:10583218 |
| P08697 | 21 | 34 | 27 | 27 | Natural variant | ID=VAR_013252;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=PMID:10583218 |
| P08697 | 21 | 34 | 33 | 33 | Natural variant | ID=VAR_013253;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=dbSNP:rs2070863,PMID:10583218 |
| P08697 | 21 | 34 | 33 | 33 | Natural variant | ID=VAR_013253;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10583218;Dbxref=dbSNP:rs2070863,PMID:10583218 |
| P08697 | 21 | 34 | 28 | 39 | Propeptide | ID=PRO_0000032511;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14751930,ECO:0000269|PubMed:16223769,ECO:0000269|PubMed:21075,ECO:0000269|PubMed:2440681;Dbxref=PMID:14751930,PMID:16223769,PMID:21075,PMID:2440681 |
| P08697 | 21 | 34 | 28 | 39 | Propeptide | ID=PRO_0000032511;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14751930,ECO:0000269|PubMed:16223769,ECO:0000269|PubMed:21075,ECO:0000269|PubMed:2440681;Dbxref=PMID:14751930,PMID:16223769,PMID:21075,PMID:2440681 |
| P08697 | 21 | 34 | 1 | 27 | Signal peptide | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1385210,ECO:0000269|PubMed:8484741;Dbxref=PMID:1385210,PMID:8484741 |
| P08697 | 21 | 34 | 1 | 27 | Signal peptide | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1385210,ECO:0000269|PubMed:8484741;Dbxref=PMID:1385210,PMID:8484741 |
| P08697 | 170 | 238 | 40 | 491 | Chain | ID=PRO_0000032512;Note=Alpha-2-antiplasmin |
| P08697 | 170 | 238 | 40 | 491 | Chain | ID=PRO_0000032512;Note=Alpha-2-antiplasmin |
| P08697 | 170 | 238 | 176 | 176 | Natural variant | ID=VAR_013254;Note=In APLID%3B variant Okinawa%3B probably blocks intracellular transport of alpha-2-plasmin inhibitor. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2572590;Dbxref=PMID:2572590 |
| P08697 | 170 | 238 | 176 | 176 | Natural variant | ID=VAR_013254;Note=In APLID%3B variant Okinawa%3B probably blocks intracellular transport of alpha-2-plasmin inhibitor. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2572590;Dbxref=PMID:2572590 |
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SNVs in the skipped exons for SERPINF2 |
| - 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 |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_147622 | 1649002 | 1649203 | 1649081 | 1649082 | Frame_Shift_Ins | - | G | p.L82fs |
| KIRC | TCGA-B0-5120-01 | exon_skip_147621 | 1648627 | 1648699 | 1648687 | 1648687 | Nonsense_Mutation | C | T | p.Q55* |
| KIRC | TCGA-B0-5120-01 | exon_skip_147621 | 1648627 | 1648699 | 1648687 | 1648687 | Nonsense_Mutation | C | T | p.Q55X |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_147628 | 1651892 | 1652034 | 1651891 | 1651891 | Splice_Site | G | A | . |
| - 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 |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1650603 | 1650806 | 1650694 | 1650694 | Frame_Shift_Del | G | - | p.L201fs |
| SW756_CERVIX | 1648627 | 1648699 | 1648648 | 1648648 | Missense_Mutation | G | C | p.E42Q |
| CORL95_LUNG | 1649002 | 1649203 | 1649063 | 1649063 | Missense_Mutation | C | A | p.P76Q |
| LS180_LARGE_INTESTINE | 1649002 | 1649203 | 1649137 | 1649137 | Missense_Mutation | T | A | p.S101T |
| SNU1040_LARGE_INTESTINE | 1649002 | 1649203 | 1649158 | 1649158 | Missense_Mutation | C | A | p.L108M |
| EN_ENDOMETRIUM | 1650603 | 1650806 | 1650714 | 1650714 | Missense_Mutation | T | C | p.V208A |
| SNU1040_LARGE_INTESTINE | 1651892 | 1652034 | 1651987 | 1651987 | Missense_Mutation | C | T | p.R271C |
| MKN7_STOMACH | 1655880 | 1656084 | 1656024 | 1656024 | Missense_Mutation | C | G | p.R335G |
| SBC5_LUNG | 1655880 | 1656084 | 1656024 | 1656024 | Missense_Mutation | C | G | p.R335G |
| CPCN_LUNG | 1651892 | 1652034 | 1652017 | 1652017 | Nonsense_Mutation | G | T | p.E281* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINF2 |
| 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_147619 | 17 | 1648285:1648352:1648468:1648507:1648626:1648689 | 1648468:1648507 | ENST00000450523.2,ENST00000324015.3,ENST00000453066.1,ENST00000453723.1,ENST00000382061.4 | KIRC | rs2070863 | chr17:1648502 | C/T | 1.97e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINF2 |
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RelatedDrugs for SERPINF2 |
| 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 |
| P08697 | DB08888 | Ocriplasmin | Alpha-2-antiplasmin | biotech | approved |
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RelatedDiseases for SERPINF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SERPINF2 | C2752081 | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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