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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 TFPI2 |
 Gene summary |
| Gene information | Gene symbol | TFPI2 | Gene ID | 7980 |
| Gene name | tissue factor pathway inhibitor 2 | |
| Synonyms | PP5|REF1|TFPI-2 | |
| Cytomap | 7q21.3 | |
| Type of gene | protein-coding | |
| Description | tissue factor pathway inhibitor 2placental protein 5retinal pigment epithelium cell factor 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P48307 | |
| Context | PubMed: TFPI2 [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 TFPI2 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 TFPI2 |
| 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 TFPI2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_477192 | 7 | 93515745:93516208:93516572:93516667:93518346:93518532 | 93516572:93516667 | ENSG00000105825.7 | ENST00000451238.1 |
| exon_skip_477194 | 7 | 93515745:93516208:93516572:93516743:93518346:93518532 | 93516572:93516743 | ENSG00000105825.7 | ENST00000222543.5 |
| exon_skip_477198 | 7 | 93516572:93516667:93518346:93518535:93519448:93519482 | 93518346:93518535 | ENSG00000105825.7 | ENST00000451238.1 |
| exon_skip_477202 | 7 | 93516572:93516743:93518346:93518535:93519448:93519482 | 93518346:93518535 | ENSG00000105825.7 | ENST00000222543.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TFPI2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_477192 | 7 | 93515745:93516208:93516572:93516667:93518346:93518532 | 93516572:93516667 | ENSG00000105825.7 | ENST00000451238.1 |
| exon_skip_477194 | 7 | 93515745:93516208:93516572:93516743:93518346:93518532 | 93516572:93516743 | ENSG00000105825.7 | ENST00000222543.5 |
| exon_skip_477198 | 7 | 93516572:93516667:93518346:93518535:93519448:93519482 | 93518346:93518535 | ENSG00000105825.7 | ENST00000451238.1 |
| exon_skip_477202 | 7 | 93516572:93516743:93518346:93518535:93519448:93519482 | 93518346:93518535 | ENSG00000105825.7 | ENST00000222543.5 |
| 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 TFPI2 |
| 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 |
| ENST00000222543 | 93516572 | 93516743 | In-frame |
| ENST00000222543 | 93518346 | 93518535 | 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 |
| ENST00000222543 | 93516572 | 93516743 | In-frame |
| ENST00000222543 | 93518346 | 93518535 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TFPI2 |
| 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 |
| ENST00000222543 | 2461 | 235 | 93518346 | 93518535 | 585 | 773 | 90 | 153 |
| ENST00000222543 | 2461 | 235 | 93516572 | 93516743 | 774 | 944 | 153 | 210 |
| 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 |
| ENST00000222543 | 2461 | 235 | 93518346 | 93518535 | 585 | 773 | 90 | 153 |
| ENST00000222543 | 2461 | 235 | 93516572 | 93516743 | 774 | 944 | 153 | 210 |
| 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 |
| P48307 | 90 | 153 | 23 | 235 | Chain | ID=PRO_0000016876;Note=Tissue factor pathway inhibitor 2 |
| P48307 | 90 | 153 | 96 | 149 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 106 | 130 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 122 | 145 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 96 | 149 | Domain | Note=BPTI/Kunitz inhibitor 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 116 | 116 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48307 | 90 | 153 | 102 | 102 | Natural variant | ID=VAR_012005;Note=V->A;Dbxref=dbSNP:rs1804202 |
| P48307 | 90 | 153 | 107 | 108 | Site | Note=Reactive bond;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48307 | 153 | 210 | 23 | 235 | Chain | ID=PRO_0000016876;Note=Tissue factor pathway inhibitor 2 |
| P48307 | 153 | 210 | 158 | 208 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 167 | 191 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 183 | 204 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 158 | 208 | Domain | Note=BPTI/Kunitz inhibitor 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 170 | 170 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48307 | 153 | 210 | 168 | 169 | Site | Note=Reactive bond;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| P48307 | 90 | 153 | 23 | 235 | Chain | ID=PRO_0000016876;Note=Tissue factor pathway inhibitor 2 |
| P48307 | 90 | 153 | 96 | 149 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 106 | 130 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 122 | 145 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 96 | 149 | Domain | Note=BPTI/Kunitz inhibitor 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 90 | 153 | 116 | 116 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48307 | 90 | 153 | 102 | 102 | Natural variant | ID=VAR_012005;Note=V->A;Dbxref=dbSNP:rs1804202 |
| P48307 | 90 | 153 | 107 | 108 | Site | Note=Reactive bond;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48307 | 153 | 210 | 23 | 235 | Chain | ID=PRO_0000016876;Note=Tissue factor pathway inhibitor 2 |
| P48307 | 153 | 210 | 158 | 208 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 167 | 191 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 183 | 204 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 158 | 208 | Domain | Note=BPTI/Kunitz inhibitor 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| P48307 | 153 | 210 | 170 | 170 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48307 | 153 | 210 | 168 | 169 | Site | Note=Reactive bond;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for TFPI2 |
| - 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 |
| BRCA | TCGA-BH-A0B1-01 | exon_skip_477202 exon_skip_477198 | 93518347 | 93518535 | 93518420 | 93518420 | Frame_Shift_Del | C | - | p.C130fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_477202 exon_skip_477198 | 93518347 | 93518535 | 93518420 | 93518420 | Frame_Shift_Del | C | - | p.G129fs |
| LUAD | TCGA-50-6594-01 | exon_skip_477202 exon_skip_477198 | 93518347 | 93518535 | 93518455 | 93518459 | Frame_Shift_Del | TTAGA | - | p.NLS116fs |
| LUAD | TCGA-NJ-A4YQ-01 | exon_skip_477202 exon_skip_477198 | 93518347 | 93518535 | 93518518 | 93518518 | Frame_Shift_Del | G | - | p.R97fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BH-A0B1-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_477198 | |
| Skipped exon start: 93518347 | |
| Skipped exon end: 93518535 | |
| Mutation start: 93518420 | |
| Mutation end: 93518420 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.C130fs | |
exon_skip_122541_BRCA_TCGA-BH-A0B1-01.png | |
exon_skip_477198_BRCA_TCGA-BH-A0B1-01.png | |
exon_skip_477202_BRCA_TCGA-BH-A0B1-01.png | |
 | Sample: TCGA-50-6594-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_477198 | |
| Skipped exon start: 93518347 | |
| Skipped exon end: 93518535 | |
| Mutation start: 93518455 | |
| Mutation end: 93518459 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TTAGA | |
| Mutation seq: - | |
| AAchange: p.NLS116fs | |
exon_skip_3230_LUAD_TCGA-50-6594-01.png | |
exon_skip_477198_LUAD_TCGA-50-6594-01.png | |
exon_skip_477202_LUAD_TCGA-50-6594-01.png | |
 | Sample: TCGA-BH-A0B1-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_477198 | |
| Skipped exon start: 93518347 | |
| Skipped exon end: 93518535 | |
| Mutation start: 93518420 | |
| Mutation end: 93518420 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.C130fs | |
| exon_skip_122541_BRCA_TCGA-BH-A0B1-01.png | |
| exon_skip_477198_BRCA_TCGA-BH-A0B1-01.png | |
| exon_skip_477202_BRCA_TCGA-BH-A0B1-01.png | |
 | Sample: TCGA-50-6594-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_477198 | |
| Skipped exon start: 93518347 | |
| Skipped exon end: 93518535 | |
| Mutation start: 93518455 | |
| Mutation end: 93518459 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TTAGA | |
| Mutation seq: - | |
| AAchange: p.NLS116fs | |
| exon_skip_3230_LUAD_TCGA-50-6594-01.png | |
| exon_skip_477198_LUAD_TCGA-50-6594-01.png | |
| exon_skip_477202_LUAD_TCGA-50-6594-01.png | |
| - 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 |
| SNU81_LARGE_INTESTINE | 93516573 | 93516743 | 93516740 | 93516740 | Frame_Shift_Del | G | - | p.P155fs |
| TGW_AUTONOMIC_GANGLIA | 93516573 | 93516743 | 93516578 | 93516578 | Missense_Mutation | G | T | p.A209E |
| TGW_AUTONOMIC_GANGLIA | 93516573 | 93516667 | 93516578 | 93516578 | Missense_Mutation | G | T | p.A209E |
| NCIH1838_LUNG | 93516573 | 93516743 | 93516671 | 93516671 | Missense_Mutation | G | T | p.P178Q |
| NCIH1838_LUNG | 93516573 | 93516667 | 93516671 | 93516671 | Missense_Mutation | G | T | p.P178Q |
| COLO792_SKIN | 93516573 | 93516743 | 93516687 | 93516687 | Missense_Mutation | G | A | p.R173C |
| SNU1040_LARGE_INTESTINE | 93518347 | 93518535 | 93518359 | 93518359 | Missense_Mutation | C | T | p.A150T |
| RKO_LARGE_INTESTINE | 93518347 | 93518535 | 93518396 | 93518396 | Missense_Mutation | G | C | p.N137K |
| CW2_LARGE_INTESTINE | 93518347 | 93518535 | 93518406 | 93518406 | Missense_Mutation | C | T | p.R134Q |
| HEC251_ENDOMETRIUM | 93518347 | 93518535 | 93518438 | 93518438 | Missense_Mutation | T | G | p.E123D |
| SW684_SOFT_TISSUE | 93518347 | 93518535 | 93518440 | 93518440 | Missense_Mutation | C | T | p.E123K |
| PACADD165_PANCREAS | 93518347 | 93518535 | 93518464 | 93518464 | Missense_Mutation | A | G | p.F115L |
| GP2D_LARGE_INTESTINE | 93518347 | 93518535 | 93518482 | 93518482 | Missense_Mutation | A | T | p.S109T |
| GP5D_LARGE_INTESTINE | 93518347 | 93518535 | 93518482 | 93518482 | Missense_Mutation | A | T | p.S109T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TFPI2 |
| 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 TFPI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TFPI2 |
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RelatedDrugs for TFPI2 |
| 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 TFPI2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TFPI2 | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| TFPI2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| TFPI2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| TFPI2 | C0025202 | melanoma | 1 | CTD_human |
| TFPI2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| TFPI2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| TFPI2 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| TFPI2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| TFPI2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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