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Fusion gene ID: 27329 |
FusionGeneSummary for PITPNM2_KCTD3 |
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Fusion gene information | Fusion gene name: PITPNM2_KCTD3 | Fusion gene ID: 27329 | Hgene | Tgene | Gene symbol | PITPNM2 | KCTD3 | Gene ID | 57605 | 51133 |
Gene name | phosphatidylinositol transfer protein membrane associated 2 | potassium channel tetramerization domain containing 3 | |
Synonyms | NIR-3|NIR3|RDGB2|RDGBA2 | NY-REN-45 | |
Cytomap | 12q24.31 | 1q41 | |
Type of gene | protein-coding | protein-coding | |
Description | membrane-associated phosphatidylinositol transfer protein 2PYK2 N-terminal domain-interacting receptor 3retinal degeneration B alpha 2 | BTB/POZ domain-containing protein KCTD3NY-REN-45 antigenpotassium channel tetramerisation domain containing 3renal carcinoma antigen NY-REN-45 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9BZ72 | Q9Y597 | |
Ensembl transtripts involved in fusion gene | ENST00000320201, ENST00000392428, ENST00000280562, ENST00000542749, ENST00000546049, ENST00000451868, | ENST00000259154, ENST00000495537, | |
Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 2 X 2 X 2=8 |
# samples | 9 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PITPNM2 | GO:0048015 | phosphatidylinositol-mediated signaling | 10022914 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUSC | TCGA-98-8021-01A | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000320201 | ENST00000259154 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5CDS-3UTR | ENST00000320201 | ENST00000495537 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
Frame-shift | ENST00000392428 | ENST00000259154 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5CDS-3UTR | ENST00000392428 | ENST00000495537 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
Frame-shift | ENST00000280562 | ENST00000259154 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5CDS-3UTR | ENST00000280562 | ENST00000495537 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
Frame-shift | ENST00000542749 | ENST00000259154 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5CDS-3UTR | ENST00000542749 | ENST00000495537 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
Frame-shift | ENST00000546049 | ENST00000259154 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5CDS-3UTR | ENST00000546049 | ENST00000495537 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5UTR-3CDS | ENST00000451868 | ENST00000259154 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
5UTR-3UTR | ENST00000451868 | ENST00000495537 | PITPNM2 | chr12 | 123519060 | - | KCTD3 | chr1 | 215792228 | + |
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FusionProtFeatures for PITPNM2_KCTD3 |
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Hgene | Tgene |
PITPNM2 | KCTD3 |
Catalyzes the transfer of phosphatidylinositol andphosphatidylcholine between membranes (in vitro). Binds calciumions. {ECO:0000269|PubMed:10022914}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PITPNM2_KCTD3 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PITPNM2 | PTK2B, VAPB, XPO1, VAPA | KCTD3 | LSM8, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PITPNM2_KCTD3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PITPNM2_KCTD3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |