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Fusion gene ID: 27266 |
FusionGeneSummary for PIP4K2B_SHANK2 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: PIP4K2B_SHANK2 | Fusion gene ID: 27266 | Hgene | Tgene | Gene symbol | PIP4K2B | SHANK2 | Gene ID | 8396 | 22941 |
| Gene name | phosphatidylinositol-5-phosphate 4-kinase type 2 beta | SH3 and multiple ankyrin repeat domains 2 | |
| Synonyms | PI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta|PIP5P4KB | AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3 | |
| Cytomap | 17q12 | 11q13.3-q13.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol 5-phosphate 4-kinase type-2 beta1-phosphatidylinositol 5-phosphate 4-kinase 2-beta1-phosphatidylinositol-4-phosphate kinasePI(5)P 4-kinase type II betaPIP4KII-betaPTDINS(4)P-5-kinasediphosphoinositide kinase 2-betaphosphatidyli | SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P78356 | Q9UPX8 | |
| Ensembl transtripts involved in fusion gene | ENST00000269554, ENST00000311500, | ENST00000449833, ENST00000409161, ENST00000423696, ENST00000338508, ENST00000409530, ENST00000449116, ENST00000357171, ENST00000468619, | |
| Fusion gene scores | * DoF score | 14 X 9 X 4=504 | 27 X 15 X 8=3240 |
| # samples | 15 | 30 | |
| ** MAII score | log2(15/504*10)=-1.74846123300404 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(30/3240*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PIP4K2B [Title/Abstract] AND SHANK2 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-AC-A2FB-01A | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000269554 | ENST00000449833 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000409161 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000423696 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000338508 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000409530 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000449116 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000357171 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5CDS-intron | ENST00000269554 | ENST00000468619 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000449833 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000409161 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000423696 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000338508 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000409530 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000449116 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000357171 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
| 5UTR-intron | ENST00000311500 | ENST00000468619 | PIP4K2B | chr17 | 36933940 | - | SHANK2 | chr11 | 70742672 | - |
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FusionProtFeatures for PIP4K2B_SHANK2 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIP4K2B | SHANK2 |