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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 SERPINI2 |
 Gene summary |
| Gene information | Gene symbol | SERPINI2 | Gene ID | 5276 |
| Gene name | serpin family I member 2 | |
| Synonyms | MEPI|PANCPIN|PI14|TSA2004 | |
| Cytomap | 3q26.1 | |
| Type of gene | protein-coding | |
| Description | serpin I2myoepithelium-derived serine protease inhibitorpancreas-specific protein TSA2004peptidase inhibitor 14protease inhibitor 14serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2serine (or cysteine) proteinase inhibitor, | |
| Modification date | 20180523 | |
| UniProtAcc | O75830 | |
| Context | PubMed: SERPINI2 [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 SERPINI2 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 SERPINI2 |
| 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 SERPINI2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389762 | 3 | 167167103:167167190:167170723:167170821:167182993:167183186 | 167170723:167170821 | ENSG00000114204.10 | ENST00000471111.1,ENST00000476257.1,ENST00000461846.1,ENST00000264677.4 |
| exon_skip_389765 | 3 | 167183422:167183461:167184842:167185028:167189375:167189627 | 167184842:167185028 | ENSG00000114204.10 | ENST00000467583.1 |
| exon_skip_389766 | 3 | 167183422:167183461:167184842:167185073:167189375:167189627 | 167184842:167185073 | ENSG00000114204.10 | ENST00000471111.1,ENST00000466903.1,ENST00000476257.1,ENST00000461846.1,ENST00000264677.4 |
| exon_skip_389768 | 3 | 167189375:167189632:167191524:167191615:167191790:167191814 | 167191524:167191615 | ENSG00000114204.10 | ENST00000466903.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SERPINI2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389762 | 3 | 167167103:167167190:167170723:167170821:167182993:167183186 | 167170723:167170821 | ENSG00000114204.10 | ENST00000476257.1,ENST00000461846.1,ENST00000264677.4,ENST00000471111.1 |
| exon_skip_389765 | 3 | 167183422:167183461:167184842:167185028:167189375:167189627 | 167184842:167185028 | ENSG00000114204.10 | ENST00000467583.1 |
| exon_skip_389766 | 3 | 167183422:167183461:167184842:167185073:167189375:167189627 | 167184842:167185073 | ENSG00000114204.10 | ENST00000476257.1,ENST00000461846.1,ENST00000264677.4,ENST00000471111.1,ENST00000466903.1 |
| exon_skip_389768 | 3 | 167189375:167189632:167191524:167191615:167191790:167191814 | 167191524:167191615 | ENSG00000114204.10 | ENST00000466903.1 |
| 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 SERPINI2 |
| 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 |
| ENST00000264677 | 167170723 | 167170821 | Frame-shift |
| ENST00000461846 | 167170723 | 167170821 | Frame-shift |
| ENST00000471111 | 167170723 | 167170821 | Frame-shift |
| ENST00000476257 | 167170723 | 167170821 | Frame-shift |
| ENST00000264677 | 167184842 | 167185073 | In-frame |
| ENST00000461846 | 167184842 | 167185073 | In-frame |
| ENST00000471111 | 167184842 | 167185073 | In-frame |
| ENST00000476257 | 167184842 | 167185073 | 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 |
| ENST00000264677 | 167170723 | 167170821 | Frame-shift |
| ENST00000461846 | 167170723 | 167170821 | Frame-shift |
| ENST00000471111 | 167170723 | 167170821 | Frame-shift |
| ENST00000476257 | 167170723 | 167170821 | Frame-shift |
| ENST00000264677 | 167184842 | 167185073 | In-frame |
| ENST00000461846 | 167184842 | 167185073 | In-frame |
| ENST00000471111 | 167184842 | 167185073 | In-frame |
| ENST00000476257 | 167184842 | 167185073 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SERPINI2 |
| 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 |
| ENST00000264677 | 1447 | 405 | 167184842 | 167185073 | 286 | 516 | 82 | 159 |
| ENST00000461846 | 1531 | 405 | 167184842 | 167185073 | 349 | 579 | 82 | 159 |
| ENST00000471111 | 1348 | 405 | 167184842 | 167185073 | 317 | 547 | 82 | 159 |
| ENST00000476257 | 1854 | 405 | 167184842 | 167185073 | 547 | 777 | 82 | 159 |
| 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 |
| ENST00000264677 | 1447 | 405 | 167184842 | 167185073 | 286 | 516 | 82 | 159 |
| ENST00000461846 | 1531 | 405 | 167184842 | 167185073 | 349 | 579 | 82 | 159 |
| ENST00000471111 | 1348 | 405 | 167184842 | 167185073 | 317 | 547 | 82 | 159 |
| ENST00000476257 | 1854 | 405 | 167184842 | 167185073 | 547 | 777 | 82 | 159 |
| 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 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| 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 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 19 | 405 | Chain | ID=PRO_0000032525;Note=Serpin I2 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
| O75830 | 82 | 159 | 148 | 148 | Natural variant | ID=VAR_024357;Note=E->G;Dbxref=dbSNP:rs9841174 |
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SNVs in the skipped exons for SERPINI2 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_389762 | 167170724 | 167170821 | 167170783 | 167170783 | Frame_Shift_Del | A | - | p.L302fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_389765 | 167184843 | 167185028 | 167184901 | 167184901 | Frame_Shift_Del | A | - | p.F140fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_389766 | 167184843 | 167185073 | 167184901 | 167184901 | Frame_Shift_Del | A | - | p.F140fs |
| SKCM | TCGA-GF-A3OT-06 | exon_skip_389762 | 167170724 | 167170821 | 167170817 | 167170817 | Nonsense_Mutation | T | A | p.K291* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_389766 | 167184843 | 167185073 | 167185068 | 167185068 | Nonsense_Mutation | C | A | p.E85* |
| - 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 |
| HCC2998_LARGE_INTESTINE | 167184843 | 167185028 | 167185020 | 167185021 | Frame_Shift_Ins | - | T | p.Q101fs |
| HCC2998_LARGE_INTESTINE | 167184843 | 167185073 | 167185020 | 167185021 | Frame_Shift_Ins | - | T | p.Q101fs |
| HEC1_ENDOMETRIUM | 167170724 | 167170821 | 167170781 | 167170781 | Missense_Mutation | A | G | p.Y303H |
| NCIH1930_LUNG | 167170724 | 167170821 | 167170797 | 167170797 | Missense_Mutation | G | T | p.D297E |
| MDAMB453_BREAST | 167184843 | 167185028 | 167184978 | 167184978 | Missense_Mutation | C | T | p.E115K |
| MDAMB453_BREAST | 167184843 | 167185073 | 167184978 | 167184978 | Missense_Mutation | C | T | p.E115K |
| MRKNU1_BREAST | 167184843 | 167185028 | 167185017 | 167185017 | Missense_Mutation | C | T | p.E102K |
| MRKNU1_BREAST | 167184843 | 167185073 | 167185017 | 167185017 | Missense_Mutation | C | T | p.E102K |
| MEWO_SKIN | 167184843 | 167185028 | 167185025 | 167185025 | Missense_Mutation | T | A | p.K99I |
| MEWO_SKIN | 167184843 | 167185073 | 167185025 | 167185025 | Missense_Mutation | T | A | p.K99I |
| M1203273_SKIN | 167184843 | 167185028 | 167185025 | 167185025 | Missense_Mutation | T | A | p.K99I |
| M1203273_SKIN | 167184843 | 167185073 | 167185025 | 167185025 | Missense_Mutation | T | A | p.K99I |
| HEC265_ENDOMETRIUM | 167184843 | 167185073 | 167185050 | 167185050 | Missense_Mutation | A | G | p.S91P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINI2 |
| 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 SERPINI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINI2 |
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RelatedDrugs for SERPINI2 |
| 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 SERPINI2 |
| 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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