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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 KLK12 |
 Gene summary |
| Gene information | Gene symbol | KLK12 | Gene ID | 43849 |
| Gene name | kallikrein related peptidase 12 | |
| Synonyms | KLK-L5|KLKL5 | |
| Cytomap | 19q13.41 | |
| Type of gene | protein-coding | |
| Description | kallikrein-12kallikrein-like protein 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UKR0 | |
| Context | PubMed: KLK12 [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 |
| KLK12 | GO:0006508 | proteolysis | 21628462 |
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Exon skipping events across known transcript of Ensembl for KLK12 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 KLK12 |
| 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 KLK12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_321581 | 19 | 51532597:51532713:51534043:51534177:51537235:51537395 | 51534043:51534177 | ENSG00000186474.11 | ENST00000530943.2,ENST00000250352.11,ENST00000529888.1,ENST00000526824.1 |
| exon_skip_321590 | 19 | 51534114:51534177:51535035:51535391:51537235:51537395 | 51535035:51535391 | ENSG00000186474.11 | ENST00000531374.1 |
| exon_skip_321602 | 19 | 51534114:51534177:51535131:51535391:51537235:51537395 | 51535131:51535391 | ENSG00000186474.11 | ENST00000319590.4,ENST00000525263.1,ENST00000250351.4 |
| exon_skip_321607 | 19 | 51537268:51537395:51537680:51537896:51538061:51538118 | 51537680:51537896 | ENSG00000186474.11 | ENST00000530943.2,ENST00000250352.11,ENST00000526824.1 |
| exon_skip_321610 | 19 | 51537268:51537395:51537840:51537896:51538050:51538148 | 51537840:51537896 | ENSG00000186474.11 | ENST00000319590.4,ENST00000250351.4 |
| exon_skip_321611 | 19 | 51537268:51537395:51537840:51537896:51538061:51538118 | 51537840:51537896 | ENSG00000186474.11 | ENST00000531374.1,ENST00000529888.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLK12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_321581 | 19 | 51532597:51532713:51534043:51534177:51537235:51537395 | 51534043:51534177 | ENSG00000186474.11 | ENST00000530943.2,ENST00000526824.1,ENST00000250352.11,ENST00000529888.1 |
| exon_skip_321590 | 19 | 51534114:51534177:51535035:51535391:51537235:51537395 | 51535035:51535391 | ENSG00000186474.11 | ENST00000531374.1 |
| exon_skip_321602 | 19 | 51534114:51534177:51535131:51535391:51537235:51537395 | 51535131:51535391 | ENSG00000186474.11 | ENST00000525263.1,ENST00000319590.4,ENST00000250351.4 |
| exon_skip_321607 | 19 | 51537268:51537395:51537680:51537896:51538061:51538118 | 51537680:51537896 | ENSG00000186474.11 | ENST00000530943.2,ENST00000526824.1,ENST00000250352.11 |
| exon_skip_321610 | 19 | 51537268:51537395:51537840:51537896:51538050:51538148 | 51537840:51537896 | ENSG00000186474.11 | ENST00000319590.4,ENST00000250351.4 |
| exon_skip_321611 | 19 | 51537268:51537395:51537840:51537896:51538061:51538118 | 51537840:51537896 | ENSG00000186474.11 | ENST00000531374.1,ENST00000529888.1 |
| 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 KLK12 |
| 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 |
| ENST00000319590 | 51537840 | 51537896 | 3UTR-3CDS |
| ENST00000319590 | 51535131 | 51535391 | Frame-shift |
| ENST00000525263 | 51535131 | 51535391 | 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 |
| ENST00000319590 | 51537840 | 51537896 | 3UTR-3CDS |
| ENST00000319590 | 51535131 | 51535391 | Frame-shift |
| ENST00000525263 | 51535131 | 51535391 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for KLK12 |
| 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 KLK12 |
| - 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 |
| COAD | TCGA-AA-3663-01 | exon_skip_321581 | 51534044 | 51534177 | 51534059 | 51534059 | Frame_Shift_Del | C | - | p.Q193fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_321581 | 51534044 | 51534177 | 51534120 | 51534120 | Frame_Shift_Del | C | - | p.C62fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_321590 | 51535036 | 51535391 | 51535204 | 51535204 | Frame_Shift_Del | G | - | p.L129fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_321602 | 51535132 | 51535391 | 51535204 | 51535204 | Frame_Shift_Del | G | - | p.L129fs |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_321590 | 51535036 | 51535391 | 51535204 | 51535204 | Frame_Shift_Del | G | - | p.L129fs |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_321602 | 51535132 | 51535391 | 51535204 | 51535204 | Frame_Shift_Del | G | - | p.L129fs |
| PRAD | TCGA-KK-A8I4-01 | exon_skip_321581 | 51534044 | 51534177 | 51534119 | 51534119 | Nonsense_Mutation | G | T | p.C62* |
| BRCA | TCGA-AR-A1AK-01 | exon_skip_321602 | 51535132 | 51535391 | 51535130 | 51535130 | Splice_Site | A | G | e3+2 |
| COAD | TCGA-AM-5821-01 | exon_skip_321602 | 51535132 | 51535391 | 51535130 | 51535130 | Splice_Site | A | G | . |
| - 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 | 51535036 | 51535391 | 51535152 | 51535152 | Frame_Shift_Del | C | - | p.G146fs |
| LS411N_LARGE_INTESTINE | 51535132 | 51535391 | 51535152 | 51535152 | Frame_Shift_Del | C | - | p.G146fs |
| CORL23_LUNG | 51534044 | 51534177 | 51534082 | 51534082 | Missense_Mutation | C | G | p.V185L |
| LC1F_LUNG | 51534044 | 51534177 | 51534084 | 51534084 | Missense_Mutation | A | G | p.M184T |
| LC1SQSF_LUNG | 51534044 | 51534177 | 51534084 | 51534084 | Missense_Mutation | A | G | p.M184T |
| LC1SQ_LUNG | 51534044 | 51534177 | 51534084 | 51534084 | Missense_Mutation | A | G | p.M184T |
| HCC2998_LARGE_INTESTINE | 51534044 | 51534177 | 51534116 | 51534116 | Missense_Mutation | A | C | p.H173Q |
| SW684_SOFT_TISSUE | 51535036 | 51535391 | 51535141 | 51535141 | Missense_Mutation | G | A | p.H150Y |
| SW684_SOFT_TISSUE | 51535132 | 51535391 | 51535141 | 51535141 | Missense_Mutation | G | A | p.H150Y |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51535036 | 51535391 | 51535191 | 51535191 | Missense_Mutation | C | T | p.C133Y |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51535132 | 51535391 | 51535191 | 51535191 | Missense_Mutation | C | T | p.C133Y |
| HCC2998_LARGE_INTESTINE | 51535036 | 51535391 | 51535261 | 51535261 | Missense_Mutation | G | A | p.R110W |
| HCC2998_LARGE_INTESTINE | 51535132 | 51535391 | 51535261 | 51535261 | Missense_Mutation | G | A | p.R110W |
| MEWO_SKIN | 51535036 | 51535391 | 51535153 | 51535154 | Nonsense_Mutation | CC | TT | p.145_146WG>*S |
| MEWO_SKIN | 51535132 | 51535391 | 51535153 | 51535154 | Nonsense_Mutation | CC | TT | p.145_146WG>*S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLK12 |
| 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 KLK12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLK12 |
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RelatedDrugs for KLK12 |
| 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 KLK12 |
| 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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