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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for SERPINB6 |
 Gene summary |
| Gene information | Gene symbol | SERPINB6 | Gene ID | 5269 |
| Gene name | serpin family B member 6 | |
| Synonyms | CAP|DFNB91|MSTP057|PI-6|PI6|PTI|SPI3 | |
| Cytomap | 6p25.2 | |
| Type of gene | protein-coding | |
| Description | serpin B6cytoplasmic antiproteinaseprotease inhibitor 6 (placental thrombin inhibitor)serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6serpin peptidase inhibitor, clade B (ovalbumin), member 6 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024QZT8, A0A024QZX3, A0A024QZX5, A0A087X1N8, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SERPINB6 | GO:0010951 | negative regulation of endopeptidase activity | 17761692 |
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Gene structures and expression levels for SERPINB6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000124570
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SERPINB6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_130579 | chr6 | 2955655:2955670:2956696:2956814:2959168:2959246 | 2956696:2956814 |
| exon_skip_131709 | chr6 | 2955655:2955670:2968779:2968913:2971117:2971276 | 2968779:2968913 |
| exon_skip_137145 | chr6 | 2955655:2955670:2968799:2968913:2971533:2971567 | 2968799:2968913 |
| exon_skip_158310 | chr6 | 2959325:2959342:2960261:2960378:2960970:2961096 | 2960261:2960378 |
| exon_skip_170402 | chr6 | 2959298:2959342:2970696:2970824:2971248:2971354 | 2970696:2970824 |
| exon_skip_176282 | chr6 | 2955655:2955670:2956696:2956814:2959168:2959342 | 2956696:2956814 |
| exon_skip_180408 | chr6 | 2955524:2955670:2956696:2956814:2959168:2959342 | 2956696:2956814 |
| exon_skip_195279 | chr6 | 2959325:2959342:2961894:2962029:2971533:2971644 | 2961894:2962029 |
| exon_skip_199714 | chr6 | 2959325:2959342:2968779:2968913:2971533:2971567 | 2968779:2968913 |
| exon_skip_212906 | chr6 | 2955655:2955670:2959168:2959342:2968779:2968913 | 2959168:2959342 |
| exon_skip_231433 | chr6 | 2959168:2959342:2960970:2961096:2971117:2971284 | 2960970:2961096 |
| exon_skip_260654 | chr6 | 2959298:2959342:2968779:2968913:2971533:2971567 | 2968779:2968913 |
| exon_skip_262885 | chr6 | 2959298:2959342:2960261:2960378:2960970:2961096 | 2960261:2960378 |
| exon_skip_267668 | chr6 | 2959298:2959342:2968779:2969102:2970696:2970714 | 2968779:2969102 |
| exon_skip_279339 | chr6 | 2953044:2953186:2954592:2954709:2955524:2955670 | 2954592:2954709 |
| exon_skip_294906 | chr6 | 2955655:2955670:2959168:2959342:2966400:2966590 | 2959168:2959342 |
| exon_skip_31681 | chr6 | 2959298:2959342:2960970:2961096:2971117:2971284 | 2960970:2961096 |
| exon_skip_37006 | chr6 | 2955655:2955670:2968779:2968913:2971117:2971206 | 2968779:2968913 |
| exon_skip_61541 | chr6 | 2955655:2955670:2959168:2959342:2971533:2971567 | 2959168:2959342 |
| exon_skip_70062 | chr6 | 2955655:2955670:2959168:2959342:2971117:2971206 | 2959168:2959342 |
| exon_skip_78735 | chr6 | 2955524:2955670:2968799:2968913:2971533:2971567 | 2968799:2968913 |
| exon_skip_98391 | chr6 | 2959325:2959342:2960970:2961096:2971248:2971331 | 2960970:2961096 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for SERPINB6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380529 | 2959168 | 2959342 | 3UTR-3CDS |
| ENST00000380539 | 2959168 | 2959342 | 3UTR-3CDS |
| ENST00000380520 | 2954592 | 2954709 | Frame-shift |
| ENST00000380524 | 2954592 | 2954709 | Frame-shift |
| ENST00000380529 | 2954592 | 2954709 | Frame-shift |
| ENST00000380539 | 2954592 | 2954709 | Frame-shift |
| ENST00000380546 | 2954592 | 2954709 | Frame-shift |
| ENST00000643098 | 2954592 | 2954709 | Frame-shift |
| ENST00000644178 | 2954592 | 2954709 | Frame-shift |
| ENST00000644388 | 2954592 | 2954709 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380539 | 2959168 | 2959342 | 3UTR-3CDS |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380529 | 2959168 | 2959342 | 3UTR-3CDS |
| ENST00000380539 | 2959168 | 2959342 | 3UTR-3CDS |
| ENST00000644178 | 2959168 | 2959342 | 3UTR-3CDS |
| ENST00000644388 | 2961894 | 2962029 | 3UTR-3UTR |
| ENST00000380520 | 2954592 | 2954709 | Frame-shift |
| ENST00000380524 | 2954592 | 2954709 | Frame-shift |
| ENST00000380529 | 2954592 | 2954709 | Frame-shift |
| ENST00000380539 | 2954592 | 2954709 | Frame-shift |
| ENST00000380546 | 2954592 | 2954709 | Frame-shift |
| ENST00000643098 | 2954592 | 2954709 | Frame-shift |
| ENST00000644178 | 2954592 | 2954709 | Frame-shift |
| ENST00000644388 | 2954592 | 2954709 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SERPINB6 |
p-ENSG00000124570_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SERPINB6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-1827 | chr6:2961971-2961978 | 8mer-1a | chr6:2961961-2961983 | 165.00 | -24.87 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-1268a | chr6:2962012-2962019 | 8mer-1a | chr6:2961999-2962019 | 162.00 | -31.38 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-1273h-5p | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-6779-5p | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-6780a-5p | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-1268b | chr6:2962012-2962019 | 8mer-1a | chr6:2961999-2962019 | 162.00 | -31.38 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-3065-3p | chr6:2961988-2961995 | 8mer-1a | chr6:2961986-2962005 | 154.00 | -17.60 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-216a-5p | chr6:2961993-2962000 | 8mer-1a | chr6:2961991-2962011 | 170.00 | -23.68 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-30b-3p | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-3689c | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-3689a-3p | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
| Mayo | ENST00000644388 | 2961894 | 2962029 | hsa-miR-3689b-3p | chr6:2961980-2961987 | 8mer-1a | chr6:2961967-2961987 | 159.00 | -21.76 |
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SNVs in the skipped exons for SERPINB6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for SERPINB6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINB6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SERPINB6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SERPINB6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P35237 | approved|investigational|withdrawn | DB00055 | Drotrecogin alfa | biotech | P35237 |
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RelatedDiseases for SERPINB6 |
| 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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