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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for PIK3C2G

check button Gene summary
Gene informationGene symbol

PIK3C2G

Gene ID

5288

Gene namephosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
SynonymsPI3K-C2-gamma|PI3K-C2GAMMA
Cytomap

12p12.3

Type of geneprotein-coding
Descriptionphosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gammaPTDINS-3-kinase C2 gammaphosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptidephosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit g
Modification date20180523
UniProtAcc

O75747

ContextPubMed: PIK3C2G [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for PIK3C2G from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for PIK3C2G

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for PIK3C2G

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_804931218435640:18435693:18439780:18439863:18443788:1844394618439780:18439863ENSG00000139144.5ENST00000538779.1,ENST00000266497.5,ENST00000535651.1,ENST00000536967.1,ENST00000433979.1
exon_skip_804941218435640:18435693:18439787:18439863:18443788:1844394618439787:18439863ENSG00000139144.5ENST00000546003.1
exon_skip_804951218446834:18446949:18466895:18466998:18473895:1847396618466895:18466998ENSG00000139144.5ENST00000538779.1,ENST00000546003.1,ENST00000266497.5,ENST00000535651.1,ENST00000433979.1
exon_skip_804971218491359:18491482:18496260:18496294:18499574:1849958818496260:18496294ENSG00000139144.5ENST00000538779.1,ENST00000546003.1,ENST00000266497.5,ENST00000535651.1,ENST00000433979.1
exon_skip_804981218499722:18499770:18515697:18515820:18524113:1852424518515697:18515820ENSG00000139144.5ENST00000538779.1,ENST00000546003.1
exon_skip_804991218499722:18499770:18524113:18524245:18534699:1853481418524113:18524245ENSG00000139144.5ENST00000266497.5,ENST00000433979.1
exon_skip_805021218544055:18544186:18552592:18552781:18573874:1857396818552592:18552781ENSG00000139144.5ENST00000538779.1,ENST00000546003.1,ENST00000266497.5,ENST00000433979.1
exon_skip_805051218656214:18656351:18658225:18658395:18691089:1869124618658225:18658395ENSG00000139144.5ENST00000538779.1,ENST00000546003.1,ENST00000266497.5,ENST00000433979.1
exon_skip_805061218699256:18699366:18715636:18715826:18716310:1871643218715636:18715826ENSG00000139144.5ENST00000538779.1,ENST00000546003.1,ENST00000266497.5,ENST00000433979.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for PIK3C2G

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_804931218435640:18435693:18439780:18439863:18443788:1844394618439780:18439863ENSG00000139144.5ENST00000535651.1,ENST00000433979.1,ENST00000266497.5,ENST00000538779.1,ENST00000536967.1
exon_skip_804941218435640:18435693:18439787:18439863:18443788:1844394618439787:18439863ENSG00000139144.5ENST00000546003.1
exon_skip_804951218446834:18446949:18466895:18466998:18473895:1847396618466895:18466998ENSG00000139144.5ENST00000535651.1,ENST00000433979.1,ENST00000546003.1,ENST00000266497.5,ENST00000538779.1
exon_skip_804971218491359:18491482:18496260:18496294:18499574:1849958818496260:18496294ENSG00000139144.5ENST00000535651.1,ENST00000433979.1,ENST00000546003.1,ENST00000266497.5,ENST00000538779.1
exon_skip_804981218499722:18499770:18515697:18515820:18524113:1852424518515697:18515820ENSG00000139144.5ENST00000546003.1,ENST00000538779.1
exon_skip_804991218499722:18499770:18524113:18524245:18534699:1853481418524113:18524245ENSG00000139144.5ENST00000433979.1,ENST00000266497.5
exon_skip_805021218544055:18544186:18552592:18552781:18573874:1857396818552592:18552781ENSG00000139144.5ENST00000433979.1,ENST00000546003.1,ENST00000266497.5,ENST00000538779.1
exon_skip_805051218656214:18656351:18658225:18658395:18691089:1869124618658225:18658395ENSG00000139144.5ENST00000433979.1,ENST00000546003.1,ENST00000266497.5,ENST00000538779.1
exon_skip_805061218699256:18699366:18715636:18715826:18716310:1871643218715636:18715826ENSG00000139144.5ENST00000433979.1,ENST00000546003.1,ENST00000266497.5,ENST00000538779.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for PIK3C2G

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002664971843978018439863Frame-shift
ENST000004339791843978018439863Frame-shift
ENST000002664971846689518466998Frame-shift
ENST000004339791846689518466998Frame-shift
ENST000002664971849626018496294Frame-shift
ENST000004339791849626018496294Frame-shift
ENST000002664971865822518658395Frame-shift
ENST000004339791865822518658395Frame-shift
ENST000002664971871563618715826Frame-shift
ENST000004339791871563618715826Frame-shift
ENST000002664971852411318524245In-frame
ENST000004339791852411318524245In-frame
ENST000002664971855259218552781In-frame
ENST000004339791855259218552781In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002664971843978018439863Frame-shift
ENST000004339791843978018439863Frame-shift
ENST000002664971846689518466998Frame-shift
ENST000004339791846689518466998Frame-shift
ENST000002664971849626018496294Frame-shift
ENST000004339791849626018496294Frame-shift
ENST000002664971865822518658395Frame-shift
ENST000004339791865822518658395Frame-shift
ENST000002664971871563618715826Frame-shift
ENST000004339791871563618715826Frame-shift
ENST000002664971852411318524245In-frame
ENST000004339791852411318524245In-frame
ENST000002664971855259218552781In-frame
ENST000004339791855259218552781In-frame

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Infer the effects of exon skipping event on protein functional features for PIK3C2G

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026649747711445185241131852424516641795542585
ENST0000043397948571445185241131852424517421873542585
ENST0000026649747711445185525921855278120422230668730
ENST0000043397948571445185525921855278121202308668730

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026649747711445185241131852424516641795542585
ENST0000043397948571445185241131852424517421873542585
ENST0000026649747711445185525921855278120422230668730
ENST0000043397948571445185525921855278121202308668730

check button 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 featureDescription of feature
O7574754258511445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O7574754258511445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O75747542585453628DomainNote=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880
O75747542585453628DomainNote=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880
O7574766873011445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O7574766873011445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O75747668730643819DomainNote=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878
O75747668730643819DomainNote=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878


check button 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 featureDescription of feature
O7574754258511445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O7574754258511445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O75747542585453628DomainNote=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880
O75747542585453628DomainNote=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880
O7574766873011445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O7574766873011445ChainID=PRO_0000088799;Note=Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma
O75747668730643819DomainNote=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878
O75747668730643819DomainNote=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878


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SNVs in the skipped exons for PIK3C2G

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_80494
exon_skip_80493
18439781184398631843984318439843Frame_Shift_DelT-p.S247fs
LIHCTCGA-DD-A1EG-01exon_skip_80494
exon_skip_80493
18439788184398631843984318439843Frame_Shift_DelT-p.S247fs
LIHCTCGA-DD-A3A0-01exon_skip_80494
exon_skip_80493
18439781184398631843984318439843Frame_Shift_DelT-p.S247fs
LIHCTCGA-DD-A3A0-01exon_skip_80494
exon_skip_80493
18439788184398631843984318439843Frame_Shift_DelT-p.S247fs
PRADTCGA-ZG-A8QW-01exon_skip_80494
exon_skip_80493
18439781184398631843984318439843Frame_Shift_DelT-p.S247fs
PRADTCGA-ZG-A8QW-01exon_skip_80494
exon_skip_80493
18439788184398631843984318439843Frame_Shift_DelT-p.S247fs
LIHCTCGA-DD-A1EG-01exon_skip_80497
18496261184962941849629018496290Frame_Shift_DelA-p.A475fs
LIHCTCGA-DD-A1EG-01exon_skip_80499
18524114185242451852412418524124Frame_Shift_DelC-p.P546fs
LIHCTCGA-DD-A3A0-01exon_skip_80499
18524114185242451852424018524240Frame_Shift_DelA-p.P584fs
LIHCTCGA-DD-A3A0-01exon_skip_80505
18658226186583951865823818658238Frame_Shift_DelT-p.F1016fs
LIHCTCGA-DD-A1EG-01exon_skip_80505
18658226186583951865833718658337Frame_Shift_DelT-p.F1048fs
LIHCTCGA-DD-A1EG-01exon_skip_80506
18715637187158261871574218715742Frame_Shift_DelT-p.T1191fs
SKCMTCGA-EE-A2GR-06exon_skip_80502
18552593185527811855269218552692Nonsense_MutationGAp.W701*
SKCMTCGA-EE-A2GR-06exon_skip_80502
18552593185527811855269218552692Nonsense_MutationGAp.W701X
LUADTCGA-MP-A4TC-01exon_skip_80506
18715637187158261871565618715656Nonsense_MutationGTp.E1163*
LUSCTCGA-22-4595-01exon_skip_80506
18715637187158261871565618715656Nonsense_MutationGTp.E1163*
GBMTCGA-76-6285-01exon_skip_80505
18658226186583951865839718658397Splice_SiteTCp.R1067_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
JHH1_LIVER18466896184669981846693218466933Frame_Shift_DelAG-p.D358fs
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18658226186583951865831618658316Frame_Shift_DelC-p.L1041fs
ISTMEL1_SKIN18715637187158261871564318715647Frame_Shift_DelAAAGG-p.KE1159fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18439788184398631843981218439812Missense_MutationTCp.V237A
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18439781184398631843981218439812Missense_MutationTCp.V237A
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18439788184398631843981718439817Missense_MutationCGp.Q239E
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18439781184398631843981718439817Missense_MutationCGp.Q239E
IGROV1_OVARY18466896184669981846693318466933Missense_MutationGAp.D358N
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18466896184669981846693818466938Missense_MutationATp.K359N
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18466896184669981846697018466970Missense_MutationGTp.R370M
NCIH513_PLEURA18496261184962941849628818496288Missense_MutationGTp.A475S
SW684_SOFT_TISSUE18496261184962941849628818496288Missense_MutationGAp.A475T
NCIH1581_LUNG18524114185242451852412718524127Missense_MutationCTp.L547F
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18524114185242451852418918524189Missense_MutationTGp.C567W
MDAMB361_BREAST18524114185242451852421518524215Missense_MutationCTp.A576V
SW403_LARGE_INTESTINE18524114185242451852421518524215Missense_MutationCTp.A576V
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18524114185242451852422618524226Missense_MutationCTp.L580F
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18524114185242451852423218524232Missense_MutationCGp.L582V
SNU1041_UPPER_AERODIGESTIVE_TRACT18552593185527811855260818552608Missense_MutationGTp.K673N
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18552593185527811855260818552608Missense_MutationGTp.K673N
SBC1_LUNG18552593185527811855260818552608Missense_MutationGTp.K673N
L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18552593185527811855261318552613Missense_MutationGTp.R675I
HEC251_ENDOMETRIUM18552593185527811855261318552613Missense_MutationGTp.R675I
VMCUB1_URINARY_TRACT18552593185527811855273718552737Missense_MutationGCp.W716C
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE18658226186583951865834618658346Missense_MutationGAp.D1051N
WM793_SKIN18715637187158261871564718715647Missense_MutationGAp.E1160K
NCIH513_PLEURA18715637187158261871566818715668Missense_MutationGTp.V1167F
TE1_OESOPHAGUS18715637187158261871567618715676Missense_MutationGCp.L1169F
NUGC4_STOMACH18715637187158261871570518715705Missense_MutationTAp.M1179K
TE6_OESOPHAGUS18715637187158261871576318715763Missense_MutationGTp.L1198F
PACADD137_PANCREAS18715637187158261871581018715810Missense_MutationGAp.S1214N
LS411N_LARGE_INTESTINE18466896184669981846699318466993Nonsense_MutationCTp.R378*
SNU1105_CENTRAL_NERVOUS_SYSTEM18466896184669981846699318466993Nonsense_MutationCTp.R378*
D392MG_CENTRAL_NERVOUS_SYSTEM18658226186583951865822718658227Splice_SiteCAp.A1011D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIK3C2G

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3C2G


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3C2G


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RelatedDrugs for PIK3C2G

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
O75747DB12010FostamatinibPhosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gammasmall moleculeapproved|investigational

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RelatedDiseases for PIK3C2G

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource