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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 KLKB1 |
 Gene summary |
| Gene information | Gene symbol | KLKB1 | Gene ID | 3818 |
| Gene name | kallikrein B1 | |
| Synonyms | KLK3|PKK|PKKD|PPK | |
| Cytomap | 4q35.2 | |
| Type of gene | protein-coding | |
| Description | plasma kallikreinkallikrein B, plasma (Fletcher factor) 1kininogeninplasma prekallikrein | |
| Modification date | 20180519 | |
| UniProtAcc | P03952 | |
| Context | PubMed: KLKB1 [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 |
| KLKB1 | GO:0031639 | plasminogen activation | 89876 |
| KLKB1 | GO:0051919 | positive regulation of fibrinolysis | 89876 |
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Exon skipping events across known transcript of Ensembl for KLKB1 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 KLKB1 |
| 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 KLKB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_427379 | 4 | 187149398:187149407:187150024:187150143:187153280:187153443 | 187150024:187150143 | ENSG00000164344.11 | ENST00000414291.1 |
| exon_skip_427380 | 4 | 187153280:187153443:187155105:187155212:187157934:187158041 | 187155105:187155212 | ENSG00000164344.11 | ENST00000511608.1,ENST00000264690.6,ENST00000511406.1,ENST00000428196.1,ENST00000414291.1,ENST00000446598.2,ENST00000513864.1 |
| exon_skip_427386 | 4 | 187177145:187177241:187178379:187178519:187179174:187179446 | 187178379:187178519 | ENSG00000164344.11 | ENST00000511608.1,ENST00000264690.6,ENST00000511406.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLKB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_427379 | 4 | 187149398:187149407:187150024:187150143:187153280:187153443 | 187150024:187150143 | ENSG00000164344.11 | ENST00000414291.1 |
| exon_skip_427380 | 4 | 187153280:187153443:187155105:187155212:187157934:187158041 | 187155105:187155212 | ENSG00000164344.11 | ENST00000511608.1,ENST00000428196.1,ENST00000264690.6,ENST00000446598.2,ENST00000414291.1,ENST00000513864.1,ENST00000511406.1 |
| exon_skip_427386 | 4 | 187177145:187177241:187178379:187178519:187179174:187179446 | 187178379:187178519 | ENSG00000164344.11 | ENST00000511608.1,ENST00000264690.6,ENST00000511406.1 |
| 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 KLKB1 |
| 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 |
| ENST00000264690 | 187155105 | 187155212 | Frame-shift |
| ENST00000264690 | 187178379 | 187178519 | Frame-shift |
| 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 |
| ENST00000264690 | 187155105 | 187155212 | Frame-shift |
| ENST00000264690 | 187178379 | 187178519 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KLKB1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for KLKB1 |
| - 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_427386 | 187178380 | 187178519 | 187178499 | 187178499 | Frame_Shift_Del | G | - | p.G570fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_427386 | 187178380 | 187178519 | 187178504 | 187178504 | Frame_Shift_Del | A | - | p.G570fs |
| READ | TCGA-AG-A002-01 | exon_skip_427380 | 187155106 | 187155212 | 187155158 | 187155158 | Nonsense_Mutation | C | T | p.R92X |
| SKCM | TCGA-YG-AA3N-01 | exon_skip_427386 | 187178380 | 187178519 | 187178388 | 187178388 | Nonsense_Mutation | C | T | p.Q532* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_427386 | 187178380 | 187178519 | 187178433 | 187178433 | Nonsense_Mutation | G | T | p.E547* |
| PAAD | TCGA-IB-7651-01 | exon_skip_427386 | 187178380 | 187178519 | 187178451 | 187178451 | Nonsense_Mutation | C | T | p.Q553* |
| PAAD | TCGA-IB-7651-01 | exon_skip_427386 | 187178380 | 187178519 | 187178451 | 187178451 | Nonsense_Mutation | C | T | p.Q553X |
| - 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 |
| LS411N_LARGE_INTESTINE | 187178380 | 187178519 | 187178504 | 187178504 | Frame_Shift_Del | A | - | p.G570fs |
| IM95_STOMACH | 187178380 | 187178519 | 187178485 | 187178485 | Missense_Mutation | C | T | p.A564V |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 187178380 | 187178519 | 187178382 | 187178382 | Nonsense_Mutation | G | T | p.E530* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLKB1 |
| 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 KLKB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLKB1 |
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RelatedDrugs for KLKB1 |
| 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 |
| P03952 | DB06404 | Human C1-esterase inhibitor | Plasma kallikrein | biotech | approved | |
| P03952 | DB01593 | Zinc | Plasma kallikrein | small molecule | approved|investigational | |
| P03952 | DB05311 | Ecallantide | Plasma kallikrein | biotech | approved|investigational | |
| P03952 | DB09228 | Conestat alfa | Plasma kallikrein | biotech | approved|investigational | |
| P03952 | DB14487 | Zinc acetate | Plasma kallikrein | small molecule | approved|investigational | |
| P03952 | DB14533 | Zinc chloride | Plasma kallikrein | small molecule | approved|investigational | |
| P03952 | DB14597 | Lanadelumab | Plasma kallikrein | biotech | approved|investigational |
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RelatedDiseases for KLKB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KLKB1 | C0272339 | Prekallikrein deficiency | 3 | CTD_human;ORPHANET;UNIPROT |
| KLKB1 | C0007274 | Carotid Artery Thrombosis | 1 | CTD_human |
| KLKB1 | C0034065 | Pulmonary Embolism | 1 | CTD_human |
| KLKB1 | C0040053 | Thrombosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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