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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 PIP4K2C |
 Gene summary |
| Gene information | Gene symbol | PIP4K2C | Gene ID | 79837 |
| Gene name | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma | |
| Synonyms | PIP5K2C | |
| Cytomap | 12q13.3 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 5-phosphate 4-kinase type-2 gammaPI(5)P 4-kinase type II gammaPIP4KII-gammaphosphatidylinositol 4-phosphate 5-kinasephosphatidylinositol 5-phosphate 4-kinase type II gammaphosphatidylinositol-4-phosphate 5-kinase, type II, gamma | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TBX8 | |
| Context | PubMed: PIP4K2C [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 PIP4K2C 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 PIP4K2C |
| 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 PIP4K2C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_84548 | 12 | 57987807:57987905:57988908:57989005:57989670:57989814 | 57988908:57989005 | ENSG00000166908.13 | ENST00000354947.5,ENST00000551772.1,ENST00000550095.1,ENST00000550360.1,ENST00000540759.2 |
| exon_skip_84549 | 12 | 57987807:57987905:57988908:57989005:57992847:57992877 | 57988908:57989005 | ENSG00000166908.13 | ENST00000422156.3 |
| exon_skip_84551 | 12 | 57988939:57989005:57989670:57989814:57992847:57992877 | 57989670:57989814 | ENSG00000166908.13 | ENST00000550465.1,ENST00000354947.5,ENST00000551772.1,ENST00000550360.1,ENST00000540759.2 |
| exon_skip_84552 | 12 | 57989670:57989814:57991740:57991845:57992847:57992877 | 57991740:57991845 | ENSG00000166908.13 | ENST00000550095.1 |
| exon_skip_84555 | 12 | 57992872:57992994:57993182:57993221:57994106:57994219 | 57993182:57993221 | ENSG00000166908.13 | ENST00000550465.1,ENST00000354947.5,ENST00000550095.1,ENST00000422156.3,ENST00000540759.2 |
| exon_skip_84558 | 12 | 57994106:57994220:57994593:57994861:57995027:57995131 | 57994593:57994861 | ENSG00000166908.13 | ENST00000550465.1,ENST00000354947.5,ENST00000422156.3,ENST00000540759.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIP4K2C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_84548 | 12 | 57987807:57987905:57988908:57989005:57989670:57989814 | 57988908:57989005 | ENSG00000166908.13 | ENST00000540759.2,ENST00000551772.1,ENST00000550360.1,ENST00000550095.1,ENST00000354947.5 |
| exon_skip_84549 | 12 | 57987807:57987905:57988908:57989005:57992847:57992877 | 57988908:57989005 | ENSG00000166908.13 | ENST00000422156.3 |
| exon_skip_84551 | 12 | 57988939:57989005:57989670:57989814:57992847:57992877 | 57989670:57989814 | ENSG00000166908.13 | ENST00000540759.2,ENST00000551772.1,ENST00000550465.1,ENST00000550360.1,ENST00000354947.5 |
| exon_skip_84552 | 12 | 57989670:57989814:57991740:57991845:57992847:57992877 | 57991740:57991845 | ENSG00000166908.13 | ENST00000550095.1 |
| exon_skip_84555 | 12 | 57992872:57992994:57993182:57993221:57994106:57994219 | 57993182:57993221 | ENSG00000166908.13 | ENST00000422156.3,ENST00000540759.2,ENST00000550465.1,ENST00000550095.1,ENST00000354947.5 |
| exon_skip_84558 | 12 | 57994106:57994220:57994593:57994861:57995027:57995131 | 57994593:57994861 | ENSG00000166908.13 | ENST00000422156.3,ENST00000540759.2,ENST00000550465.1,ENST00000354947.5 |
| 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 PIP4K2C |
| 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 |
| ENST00000354947 | 57988908 | 57989005 | Frame-shift |
| ENST00000540759 | 57988908 | 57989005 | Frame-shift |
| ENST00000354947 | 57994593 | 57994861 | Frame-shift |
| ENST00000540759 | 57994593 | 57994861 | Frame-shift |
| ENST00000354947 | 57989670 | 57989814 | In-frame |
| ENST00000540759 | 57989670 | 57989814 | In-frame |
| ENST00000354947 | 57993182 | 57993221 | In-frame |
| ENST00000540759 | 57993182 | 57993221 | 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 |
| ENST00000354947 | 57988908 | 57989005 | Frame-shift |
| ENST00000540759 | 57988908 | 57989005 | Frame-shift |
| ENST00000354947 | 57994593 | 57994861 | Frame-shift |
| ENST00000540759 | 57994593 | 57994861 | Frame-shift |
| ENST00000354947 | 57989670 | 57989814 | In-frame |
| ENST00000540759 | 57989670 | 57989814 | In-frame |
| ENST00000354947 | 57993182 | 57993221 | In-frame |
| ENST00000540759 | 57993182 | 57993221 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIP4K2C |
| 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 |
| ENST00000354947 | 2941 | 421 | 57989670 | 57989814 | 386 | 529 | 123 | 171 |
| ENST00000540759 | 2890 | 421 | 57989670 | 57989814 | 457 | 600 | 123 | 171 |
| ENST00000354947 | 2941 | 421 | 57993182 | 57993221 | 677 | 715 | 220 | 233 |
| ENST00000540759 | 2890 | 421 | 57993182 | 57993221 | 748 | 786 | 220 | 233 |
| 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 |
| ENST00000354947 | 2941 | 421 | 57989670 | 57989814 | 386 | 529 | 123 | 171 |
| ENST00000540759 | 2890 | 421 | 57989670 | 57989814 | 457 | 600 | 123 | 171 |
| ENST00000354947 | 2941 | 421 | 57993182 | 57993221 | 677 | 715 | 220 | 233 |
| ENST00000540759 | 2890 | 421 | 57993182 | 57993221 | 748 | 786 | 220 | 233 |
| 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 |
| Q8TBX8 | 123 | 171 | 124 | 171 | Alternative sequence | ID=VSP_042929;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TBX8 | 123 | 171 | 124 | 171 | Alternative sequence | ID=VSP_042929;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TBX8 | 123 | 171 | 147 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 147 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 123 | 171 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 123 | 171 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| Q8TBX8 | 123 | 171 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| Q8TBX8 | 123 | 171 | 119 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 119 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 156 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 156 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 220 | 233 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 220 | 233 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 220 | 233 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| Q8TBX8 | 220 | 233 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| 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 |
| Q8TBX8 | 123 | 171 | 124 | 171 | Alternative sequence | ID=VSP_042929;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TBX8 | 123 | 171 | 124 | 171 | Alternative sequence | ID=VSP_042929;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TBX8 | 123 | 171 | 147 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 147 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 123 | 171 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 123 | 171 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| Q8TBX8 | 123 | 171 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| Q8TBX8 | 123 | 171 | 119 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 119 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 156 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 123 | 171 | 156 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GK9 |
| Q8TBX8 | 220 | 233 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 220 | 233 | 2 | 421 | Chain | ID=PRO_0000285750;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma |
| Q8TBX8 | 220 | 233 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| Q8TBX8 | 220 | 233 | 43 | 420 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
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SNVs in the skipped exons for PIP4K2C |
| - 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 |
| LUSC | TCGA-18-3410-01 | exon_skip_84549 exon_skip_84548 | 57988909 | 57989005 | 57988919 | 57988919 | Frame_Shift_Del | C | - | p.P95fs |
| BRCA | TCGA-BH-A18T-01 | exon_skip_84549 exon_skip_84548 | 57988909 | 57989005 | 57988969 | 57988969 | Frame_Shift_Del | C | - | p.R112fs |
| HNSC | TCGA-CR-6493-01 | exon_skip_84549 exon_skip_84548 | 57988909 | 57989005 | 57988994 | 57988994 | Nonsense_Mutation | C | T | p.Q120* |
| - 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 |
| HEC151_ENDOMETRIUM | 57989671 | 57989814 | 57989688 | 57989688 | Frame_Shift_Del | C | - | p.N129fs |
| HEC108_ENDOMETRIUM | 57988909 | 57989005 | 57988970 | 57988970 | Missense_Mutation | C | T | p.R112C |
| CPCN_LUNG | 57989671 | 57989814 | 57989698 | 57989698 | Missense_Mutation | G | A | p.E133K |
| L33_PANCREAS | 57989671 | 57989814 | 57989765 | 57989765 | Missense_Mutation | C | G | p.S155C |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57994594 | 57994861 | 57994687 | 57994687 | Missense_Mutation | C | T | p.R303W |
| SNU478_BILIARY_TRACT | 57994594 | 57994861 | 57994702 | 57994702 | Missense_Mutation | G | C | p.E308Q |
| NCIH2126_LUNG | 57994594 | 57994861 | 57994708 | 57994708 | Missense_Mutation | G | T | p.D310Y |
| HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57994594 | 57994861 | 57994718 | 57994718 | Missense_Mutation | G | A | p.C313Y |
| SARC9371_BONE | 57994594 | 57994861 | 57994826 | 57994826 | Missense_Mutation | C | T | p.S349F |
| HEP3B217_LIVER | 57994594 | 57994861 | 57994837 | 57994837 | Missense_Mutation | G | C | p.V353L |
| ECC10_STOMACH | 57988909 | 57989005 | 57988940 | 57988940 | Nonsense_Mutation | G | T | p.E102* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIP4K2C |
| 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 PIP4K2C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIP4K2C |
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RelatedDrugs for PIP4K2C |
| 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 |
| Q8TBX8 | DB12010 | Fostamatinib | Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma | small molecule | approved|investigational |
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RelatedDiseases for PIP4K2C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PIP4K2C | C0036341 | Schizophrenia | 2 | PSYGENET |
| PIP4K2C | C0005586 | Bipolar Disorder | 1 | PSYGENET |
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