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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 PKNOX2 |
 Gene summary |
| Gene information | Gene symbol | PKNOX2 | Gene ID | 63876 |
| Gene name | PBX/knotted 1 homeobox 2 | |
| Synonyms | PREP2 | |
| Cytomap | 11q24.2 | |
| Type of gene | protein-coding | |
| Description | homeobox protein PKNOX2PBX/knotted homeobox 2homeobox protein PREP-2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96KN3 | |
| Context | PubMed: PKNOX2 [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 PKNOX2 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 PKNOX2 |
| 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 PKNOX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66315 | 11 | 125034649:125034672:125104940:125105011:125201714:125201821 | 125104940:125105011 | ENSG00000165495.11 | ENST00000298282.9,ENST00000532623.1,ENST00000542175.1,ENST00000559662.1 |
| exon_skip_66318 | 11 | 125104940:125105011:125109511:125109624:125201714:125201821 | 125109511:125109624 | ENSG00000165495.11 | ENST00000527238.1 |
| exon_skip_66319 | 11 | 125104940:125105011:125201714:125201821:125221179:125221288 | 125201714:125201821 | ENSG00000165495.11 | ENST00000298282.9,ENST00000532623.1,ENST00000542175.1,ENST00000531212.1,ENST00000559662.1 |
| exon_skip_66320 | 11 | 125201714:125201821:125202511:125202584:125221179:125221288 | 125202511:125202584 | ENSG00000165495.11 | ENST00000527238.1 |
| exon_skip_66321 | 11 | 125201714:125201821:125221179:125221288:125237741:125237771 | 125221179:125221288 | ENSG00000165495.11 | ENST00000298282.9,ENST00000558705.1,ENST00000558729.1,ENST00000531212.1,ENST00000559662.1 |
| exon_skip_66322 | 11 | 125221179:125221288:125237741:125237881:125255446:125255514 | 125237741:125237881 | ENSG00000165495.11 | ENST00000298282.9,ENST00000558705.1 |
| exon_skip_66323 | 11 | 125237741:125237881:125255446:125255618:125267769:125267811 | 125255446:125255618 | ENSG00000165495.11 | ENST00000298282.9,ENST00000530517.1,ENST00000531116.1 |
| exon_skip_66325 | 11 | 125267769:125267958:125279934:125281761:125298907:125298984 | 125279934:125281761 | ENSG00000165495.11 | ENST00000526955.1 |
| exon_skip_66329 | 11 | 125280103:125280221:125280674:125280772:125281641:125281761 | 125280674:125280772 | ENSG00000165495.11 | ENST00000298282.9,ENST00000530517.1,ENST00000532623.1,ENST00000542175.1,ENST00000531116.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PKNOX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66315 | 11 | 125034649:125034672:125104940:125105011:125201714:125201821 | 125104940:125105011 | ENSG00000165495.11 | ENST00000298282.9,ENST00000559662.1,ENST00000532623.1,ENST00000542175.1 |
| exon_skip_66318 | 11 | 125104940:125105011:125109511:125109624:125201714:125201821 | 125109511:125109624 | ENSG00000165495.11 | ENST00000527238.1 |
| exon_skip_66319 | 11 | 125104940:125105011:125201714:125201821:125221179:125221288 | 125201714:125201821 | ENSG00000165495.11 | ENST00000298282.9,ENST00000559662.1,ENST00000532623.1,ENST00000542175.1,ENST00000531212.1 |
| exon_skip_66320 | 11 | 125201714:125201821:125202511:125202584:125221179:125221288 | 125202511:125202584 | ENSG00000165495.11 | ENST00000527238.1 |
| exon_skip_66321 | 11 | 125201714:125201821:125221179:125221288:125237741:125237771 | 125221179:125221288 | ENSG00000165495.11 | ENST00000298282.9,ENST00000559662.1,ENST00000531212.1,ENST00000558729.1,ENST00000558705.1 |
| exon_skip_66322 | 11 | 125221179:125221288:125237741:125237881:125255446:125255514 | 125237741:125237881 | ENSG00000165495.11 | ENST00000298282.9,ENST00000558705.1 |
| exon_skip_66323 | 11 | 125237741:125237881:125255446:125255618:125267769:125267811 | 125255446:125255618 | ENSG00000165495.11 | ENST00000530517.1,ENST00000531116.1,ENST00000298282.9 |
| exon_skip_66325 | 11 | 125267769:125267958:125279934:125281761:125298907:125298984 | 125279934:125281761 | ENSG00000165495.11 | ENST00000526955.1 |
| exon_skip_66329 | 11 | 125280103:125280221:125280674:125280772:125281641:125281761 | 125280674:125280772 | ENSG00000165495.11 | ENST00000530517.1,ENST00000531116.1,ENST00000298282.9,ENST00000532623.1,ENST00000542175.1 |
| 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 PKNOX2 |
| 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 |
| ENST00000298282 | 125221179 | 125221288 | 5CDS-5UTR |
| ENST00000298282 | 125104940 | 125105011 | 5UTR-5UTR |
| ENST00000298282 | 125201714 | 125201821 | 5UTR-5UTR |
| ENST00000298282 | 125237741 | 125237881 | Frame-shift |
| ENST00000298282 | 125255446 | 125255618 | Frame-shift |
| ENST00000298282 | 125280674 | 125280772 | 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 |
| ENST00000298282 | 125221179 | 125221288 | 5CDS-5UTR |
| ENST00000298282 | 125104940 | 125105011 | 5UTR-5UTR |
| ENST00000298282 | 125201714 | 125201821 | 5UTR-5UTR |
| ENST00000298282 | 125237741 | 125237881 | Frame-shift |
| ENST00000298282 | 125255446 | 125255618 | Frame-shift |
| ENST00000298282 | 125280674 | 125280772 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PKNOX2 |
| 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 PKNOX2 |
| - 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-A1EG-01 | exon_skip_66322 | 125237742 | 125237881 | 125237817 | 125237817 | Frame_Shift_Del | C | - | p.P55fs |
| LUAD | TCGA-NJ-A4YQ-01 | exon_skip_66323 | 125255447 | 125255618 | 125255455 | 125255455 | Frame_Shift_Del | T | - | p.L79fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_66325 | 125279935 | 125281761 | 125280108 | 125280108 | Frame_Shift_Del | C | - | p.S202fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_66325 | 125279935 | 125281761 | 125280739 | 125280739 | Frame_Shift_Del | C | - | p.I261fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_66329 | 125280675 | 125280772 | 125280739 | 125280739 | Frame_Shift_Del | C | - | p.I261fs |
| LUAD | TCGA-MP-A4TF-01 | exon_skip_66325 | 125279935 | 125281761 | 125280765 | 125280766 | Frame_Shift_Del | AC | - | p.N270fs |
| LUAD | TCGA-MP-A4TF-01 | exon_skip_66329 | 125280675 | 125280772 | 125280765 | 125280766 | Frame_Shift_Del | AC | - | p.N270fs |
| BLCA | TCGA-GU-AATQ-01 | exon_skip_66322 | 125237742 | 125237881 | 125237800 | 125237800 | Nonsense_Mutation | C | G | p.S49* |
| BRCA | TCGA-BH-A0BQ-01 | exon_skip_66322 | 125237742 | 125237881 | 125237868 | 125237868 | Nonsense_Mutation | C | T | p.R72* |
| CHOL | TCGA-W5-AA2I-01 | exon_skip_66325 | 125279935 | 125281761 | 125280125 | 125280125 | Nonsense_Mutation | G | T | p.G208X |
| STAD | TCGA-BR-7851-01 | exon_skip_66325 | 125279935 | 125281761 | 125281699 | 125281699 | Nonsense_Mutation | C | T | p.R292* |
| STAD | TCGA-BR-7851-01 | exon_skip_66325 | 125279935 | 125281761 | 125281699 | 125281699 | Nonsense_Mutation | C | T | p.R292X |
| - 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 |
| SNUC5_LARGE_INTESTINE | 125221180 | 125221288 | 125221218 | 125221218 | Frame_Shift_Del | C | - | p.S6fs |
| NCIH2172_LUNG | 125279935 | 125281761 | 125280139 | 125280139 | Frame_Shift_Del | C | - | p.N212fs |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125279935 | 125281761 | 125280127 | 125280128 | Frame_Shift_Ins | - | AT | p.V209fs |
| SNU1040_LARGE_INTESTINE | 125221180 | 125221288 | 125221232 | 125221232 | Missense_Mutation | C | A | p.L11M |
| NCIH1339_LUNG | 125221180 | 125221288 | 125221255 | 125221255 | Missense_Mutation | T | A | p.N18K |
| MCC13_SKIN | 125221180 | 125221288 | 125221269 | 125221269 | Missense_Mutation | C | T | p.P23L |
| C125PM_LARGE_INTESTINE | 125237742 | 125237881 | 125237746 | 125237746 | Missense_Mutation | C | A | p.T31K |
| LCLC103H_LUNG | 125237742 | 125237881 | 125237797 | 125237797 | Missense_Mutation | C | A | p.P48H |
| OVCA420_OVARY | 125237742 | 125237881 | 125237838 | 125237838 | Missense_Mutation | G | A | p.D62N |
| OVTOKO_OVARY | 125237742 | 125237881 | 125237847 | 125237847 | Missense_Mutation | G | A | p.A65T |
| NCIH2170_LUNG | 125237742 | 125237881 | 125237864 | 125237864 | Missense_Mutation | C | G | p.D70E |
| HS343T_FIBROBLAST | 125255447 | 125255618 | 125255463 | 125255463 | Missense_Mutation | C | T | p.L82F |
| GP2D_LARGE_INTESTINE | 125255447 | 125255618 | 125255517 | 125255517 | Missense_Mutation | A | G | p.I100V |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125255447 | 125255618 | 125255527 | 125255527 | Missense_Mutation | C | T | p.A103V |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125255447 | 125255618 | 125255545 | 125255545 | Missense_Mutation | T | C | p.I109T |
| KP4_PANCREAS | 125255447 | 125255618 | 125255595 | 125255595 | Missense_Mutation | G | A | p.D126N |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125279935 | 125281761 | 125280102 | 125280102 | Missense_Mutation | A | G | p.Q200R |
| GP2D_LARGE_INTESTINE | 125279935 | 125281761 | 125280119 | 125280119 | Missense_Mutation | A | G | p.M206V |
| GP5D_LARGE_INTESTINE | 125279935 | 125281761 | 125280119 | 125280119 | Missense_Mutation | A | G | p.M206V |
| GP2D_LARGE_INTESTINE | 125279935 | 125281761 | 125280188 | 125280188 | Missense_Mutation | G | A | p.A229T |
| GP5D_LARGE_INTESTINE | 125279935 | 125281761 | 125280188 | 125280188 | Missense_Mutation | G | A | p.A229T |
| 5637_URINARY_TRACT | 125279935 | 125281761 | 125280747 | 125280747 | Missense_Mutation | G | C | p.G264A |
| 5637_URINARY_TRACT | 125280675 | 125280772 | 125280747 | 125280747 | Missense_Mutation | G | C | p.G264A |
| HUH1_LIVER | 125279935 | 125281761 | 125280755 | 125280755 | Missense_Mutation | C | G | p.Q267E |
| HUH1_LIVER | 125280675 | 125280772 | 125280755 | 125280755 | Missense_Mutation | C | G | p.Q267E |
| SISO_CERVIX | 125279935 | 125281761 | 125281646 | 125281646 | Missense_Mutation | A | C | p.N274T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125279935 | 125281761 | 125281646 | 125281646 | Missense_Mutation | A | C | p.N274T |
| CHLA06ATRT_SOFT_TISSUE | 125279935 | 125281761 | 125281684 | 125281684 | Missense_Mutation | A | C | p.K287Q |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125279935 | 125281761 | 125281694 | 125281694 | Missense_Mutation | A | C | p.N290T |
| SNUC2A_LARGE_INTESTINE | 125279935 | 125281761 | 125281705 | 125281705 | Missense_Mutation | G | T | p.V294F |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125279935 | 125281761 | 125281735 | 125281735 | Missense_Mutation | C | T | p.R304C |
| SNU81_LARGE_INTESTINE | 125279935 | 125281761 | 125281735 | 125281735 | Missense_Mutation | C | T | p.R304C |
| JHUEM7_ENDOMETRIUM | 125279935 | 125281761 | 125281739 | 125281739 | Missense_Mutation | C | A | p.S305Y |
| NCC010_KIDNEY | 125255447 | 125255618 | 125255580 | 125255580 | Nonsense_Mutation | A | T | p.K121* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PKNOX2 |
| 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 PKNOX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PKNOX2 |
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RelatedDrugs for PKNOX2 |
| 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 PKNOX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PKNOX2 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
| PKNOX2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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