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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 SPINT2 |
 Gene summary |
| Gene information | Gene symbol | SPINT2 | Gene ID | 10653 |
| Gene name | serine peptidase inhibitor, Kunitz type 2 | |
| Synonyms | DIAR3|HAI-2|HAI2|Kop|PB | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | kunitz-type protease inhibitor 2hepatocyte growth factor activator inhibitor type 2serine protease inhibitor, Kunitz type, 2testicular tissue protein Li 183 | |
| Modification date | 20180522 | |
| UniProtAcc | O43291 | |
| Context | PubMed: SPINT2 [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 |
| SPINT2 | GO:0022408 | negative regulation of cell-cell adhesion | 19592578 |
| SPINT2 | GO:2000146 | negative regulation of cell motility | 19592578 |
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Exon skipping events across known transcript of Ensembl for SPINT2 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 SPINT2 |
| 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 SPINT2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306438 | 19 | 38755215:38755363:38774266:38774437:38778515:38778545 | 38774266:38774437 | ENSG00000167642.8 | ENST00000587090.1 |
| exon_skip_306440 | 19 | 38755373:38755638:38774266:38774437:38778515:38778545 | 38774266:38774437 | ENSG00000167642.8 | ENST00000590210.1,ENST00000301244.7 |
| exon_skip_306443 | 19 | 38774381:38774437:38778515:38778575:38779777:38779831 | 38778515:38778575 | ENSG00000167642.8 | ENST00000587090.1,ENST00000301244.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPINT2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306438 | 19 | 38755215:38755363:38774266:38774437:38778515:38778545 | 38774266:38774437 | ENSG00000167642.8 | ENST00000587090.1 |
| exon_skip_306440 | 19 | 38755373:38755638:38774266:38774437:38778515:38778545 | 38774266:38774437 | ENSG00000167642.8 | ENST00000301244.7,ENST00000590210.1 |
| exon_skip_306443 | 19 | 38774381:38774437:38778515:38778575:38779777:38779831 | 38778515:38778575 | ENSG00000167642.8 | ENST00000301244.7,ENST00000587090.1 |
| 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 SPINT2 |
| 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 |
| ENST00000301244 | 38774266 | 38774437 | In-frame |
| ENST00000301244 | 38778515 | 38778575 | 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 |
| ENST00000301244 | 38774266 | 38774437 | In-frame |
| ENST00000301244 | 38778515 | 38778575 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPINT2 |
| 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 |
| ENST00000301244 | 1819 | 252 | 38774266 | 38774437 | 542 | 712 | 35 | 92 |
| ENST00000301244 | 1819 | 252 | 38778515 | 38778575 | 713 | 772 | 92 | 112 |
| 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 |
| ENST00000301244 | 1819 | 252 | 38774266 | 38774437 | 542 | 712 | 35 | 92 |
| ENST00000301244 | 1819 | 252 | 38778515 | 38778575 | 713 | 772 | 92 | 112 |
| 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 |
| O43291 | 35 | 92 | 36 | 92 | Alternative sequence | ID=VSP_043680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43291 | 35 | 92 | 51 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 62 | 68 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 70 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 78 | 80 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 28 | 252 | Chain | ID=PRO_0000016885;Note=Kunitz-type protease inhibitor 2 |
| O43291 | 35 | 92 | 38 | 88 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 47 | 71 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 63 | 84 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 38 | 88 | Domain | Note=BPTI/Kunitz inhibitor 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 57 | 57 | Glycosylation | Note=N-linked (GlcNAc...) asparagine |
| O43291 | 35 | 92 | 81 | 87 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 53 | 53 | Sequence conflict | Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43291 | 35 | 92 | 48 | 49 | Site | Note=Reactive bond;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O43291 | 35 | 92 | 28 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43291 | 35 | 92 | 36 | 38 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 58 | 61 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 92 | 112 | 36 | 92 | Alternative sequence | ID=VSP_043680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43291 | 92 | 112 | 28 | 252 | Chain | ID=PRO_0000016885;Note=Kunitz-type protease inhibitor 2 |
| O43291 | 92 | 112 | 94 | 94 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43291 | 92 | 112 | 28 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O43291 | 35 | 92 | 36 | 92 | Alternative sequence | ID=VSP_043680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43291 | 35 | 92 | 51 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 62 | 68 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 70 | 72 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 78 | 80 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 28 | 252 | Chain | ID=PRO_0000016885;Note=Kunitz-type protease inhibitor 2 |
| O43291 | 35 | 92 | 38 | 88 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 47 | 71 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 63 | 84 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 38 | 88 | Domain | Note=BPTI/Kunitz inhibitor 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031 |
| O43291 | 35 | 92 | 57 | 57 | Glycosylation | Note=N-linked (GlcNAc...) asparagine |
| O43291 | 35 | 92 | 81 | 87 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 53 | 53 | Sequence conflict | Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43291 | 35 | 92 | 48 | 49 | Site | Note=Reactive bond;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O43291 | 35 | 92 | 28 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43291 | 35 | 92 | 36 | 38 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 35 | 92 | 58 | 61 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4U32 |
| O43291 | 92 | 112 | 36 | 92 | Alternative sequence | ID=VSP_043680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O43291 | 92 | 112 | 28 | 252 | Chain | ID=PRO_0000016885;Note=Kunitz-type protease inhibitor 2 |
| O43291 | 92 | 112 | 94 | 94 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43291 | 92 | 112 | 28 | 197 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SPINT2 |
| - 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 |
| - 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 |
| NCIH2722_PLEURA | 38774267 | 38774437 | 38774407 | 38774407 | Nonsense_Mutation | G | T | p.E83* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPINT2 |
| 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 SPINT2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPINT2 |
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RelatedDrugs for SPINT2 |
| 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 SPINT2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SPINT2 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| SPINT2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| SPINT2 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| SPINT2 | C0032045 | Placenta Disorders | 1 | CTD_human |
| SPINT2 | C0267663 | Congenital secretory diarrhea, sodium type (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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