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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 27329

FusionGeneSummary for PITPNM2_KCTD3

check button Fusion gene summary
Fusion gene informationFusion gene name: PITPNM2_KCTD3
Fusion gene ID: 27329
HgeneTgene
Gene symbol

PITPNM2

KCTD3

Gene ID

57605

51133

Gene namephosphatidylinositol transfer protein membrane associated 2potassium channel tetramerization domain containing 3
SynonymsNIR-3|NIR3|RDGB2|RDGBA2NY-REN-45
Cytomap

12q24.31

1q41

Type of geneprotein-codingprotein-coding
Descriptionmembrane-associated phosphatidylinositol transfer protein 2PYK2 N-terminal domain-interacting receptor 3retinal degeneration B alpha 2BTB/POZ domain-containing protein KCTD3NY-REN-45 antigenpotassium channel tetramerisation domain containing 3renal carcinoma antigen NY-REN-45
Modification date2018052320180519
UniProtAcc

Q9BZ72

Q9Y597

Ensembl transtripts involved in fusion geneENST00000320201, ENST00000392428, 
ENST00000280562, ENST00000542749, 
ENST00000546049, ENST00000451868, 
ENST00000259154, ENST00000495537, 
Fusion gene scores* DoF score9 X 8 X 7=5042 X 2 X 2=8
# samples 92
** MAII scorelog2(9/504*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PITPNM2 [Title/Abstract] AND KCTD3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePITPNM2

GO:0048015

phosphatidylinositol-mediated signaling

10022914


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUSCTCGA-98-8021-01APITPNM2chr12

123519060

-KCTD3chr1

215792228

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000320201ENST00000259154PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5CDS-3UTRENST00000320201ENST00000495537PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
Frame-shiftENST00000392428ENST00000259154PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5CDS-3UTRENST00000392428ENST00000495537PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
Frame-shiftENST00000280562ENST00000259154PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5CDS-3UTRENST00000280562ENST00000495537PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
Frame-shiftENST00000542749ENST00000259154PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5CDS-3UTRENST00000542749ENST00000495537PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
Frame-shiftENST00000546049ENST00000259154PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5CDS-3UTRENST00000546049ENST00000495537PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5UTR-3CDSENST00000451868ENST00000259154PITPNM2chr12

123519060

-KCTD3chr1

215792228

+
5UTR-3UTRENST00000451868ENST00000495537PITPNM2chr12

123519060

-KCTD3chr1

215792228

+

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FusionProtFeatures for PITPNM2_KCTD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PITPNM2

Q9BZ72

KCTD3

Q9Y597

Catalyzes the transfer of phosphatidylinositol andphosphatidylcholine between membranes (in vitro). Binds calciumions. {ECO:0000269|PubMed:10022914}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PITPNM2_KCTD3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PITPNM2_KCTD3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PITPNM2PTK2B, VAPB, XPO1, VAPAKCTD3LSM8, COPS6, USP13, ARRB1, SH3KBP1, CUL3, COPS5, DCUN1D1, NEDD8, LRRC40, MRI1, STXBP1, MMS19, FHL3, WDR83, DNAJB2, EPN3, SCRN2, C9orf41, PCMT1, HSPB1, NCOA1, XPO1, IQGAP1, RNASEH2B, PTPN3, SHKBP1, KCTD15, KCTD1, PDZK1, ASPSCR1, RAD23B, TRAPPC6B, TRAPPC9, C7orf43, UBE2M, ARIH1, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, DENND4C, LPIN3, MAST3, DENND1A, SH3PXD2A, SRGAP2, PPM1H, EIF4E2, SIPA1L1, SH3RF3, LIMA1, MAGI1, NF1, TANC2, PTPN13, TESK2, RALGPS2, DCLK1, CBY1, CDC25C, HDAC4, ZNF638, GIGYF2, MAPKAP1, NADK, CAMSAP2, SRSF12, SYDE1, RASAL2, OSBPL6, KIAA1804, AGAP1, TIAM1, CDC25B, RPTOR, CDK16, PHLDB2, DENND4A, CWC25, PLEKHA7, KIF1C, INPP5E, NAV1, FAM110B, USP21, MELK, MTFR1L, FAM53C, ANKRD34A, CSNK1A1, STARD13, PTPN14, HDAC5, GAB2, MICALL1, HDAC7, FGD6, FAM110A, DACT3, LARP1, TBC1D1, RAB11FIP2, DEPDC1B, WEE1, DCP1B, CRTC3, CHEK1, DCP1A, KIF1B, PLEKHA5, PANK2, REEP3, CRTC2, MLLT4, EDC3, BAIAP2, CRTC1, PAK4, LMO7, KLC3, OSBPL3, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PITPNM2_KCTD3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PITPNM2_KCTD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource