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Fusion gene ID: 27327 |
FusionGeneSummary for PITPNM1_TFAP2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PITPNM1_TFAP2A | Fusion gene ID: 27327 | Hgene | Tgene | Gene symbol | PITPNM1 | TFAP2A | Gene ID | 9600 | 7020 |
| Gene name | phosphatidylinositol transfer protein membrane associated 1 | transcription factor AP-2 alpha | |
| Synonyms | DRES9|NIR2|PITPNM|RDGB|RDGB1|RDGBA|RDGBA1|Rd9 | AP-2|AP-2alpha|AP2TF|BOFS|TFAP2 | |
| Cytomap | 11q13.2 | 6p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-associated phosphatidylinositol transfer protein 1NIR-2PITPnm 1PYK2 N-terminal domain-interacting receptor 2drosophila retinal degeneration B homologretinal degeneration B alpha 1 | transcription factor AP-2-alphaAP-2 transcription factorAP2-alphaactivating enhancer-binding protein 2-alphaactivator protein 2transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | O00562 | P05549 | |
| Ensembl transtripts involved in fusion gene | ENST00000534749, ENST00000436757, ENST00000356404, ENST00000526450, | ENST00000379613, ENST00000379604, ENST00000319516, ENST00000379608, ENST00000482890, ENST00000497266, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 4 X 4 X 3=48 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PITPNM1 [Title/Abstract] AND TFAP2A [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 |
| Hgene | PITPNM1 | GO:0015914 | phospholipid transport | 22822086 |
| Tgene | TFAP2A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8321221|9520389|20066163 |
| Tgene | TFAP2A | GO:0008285 | negative regulation of cell proliferation | 20607706 |
| Tgene | TFAP2A | GO:0030501 | positive regulation of bone mineralization | 19578371 |
| Tgene | TFAP2A | GO:0043066 | negative regulation of apoptotic process | 20066163 |
| Tgene | TFAP2A | GO:0043525 | positive regulation of neuron apoptotic process | 20607706 |
| Tgene | TFAP2A | GO:0045595 | regulation of cell differentiation | 20607706 |
| Tgene | TFAP2A | GO:0045892 | negative regulation of transcription, DNA-templated | 20607706 |
| Tgene | TFAP2A | GO:0045893 | positive regulation of transcription, DNA-templated | 12586840 |
| Tgene | TFAP2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7555706|7559606|11278550|20808827 |
| Tgene | TFAP2A | GO:0070172 | positive regulation of tooth mineralization | 19578371 |
| Tgene | TFAP2A | GO:0071281 | cellular response to iron ion | 20808827 |
| Tgene | TFAP2A | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 20066163 |
| 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 |
| ChiTaRS3.1 | BM724362 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| * 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 |
| intron-3CDS | ENST00000534749 | ENST00000379613 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000534749 | ENST00000379604 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000534749 | ENST00000319516 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000534749 | ENST00000379608 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000534749 | ENST00000482890 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-5UTR | ENST00000534749 | ENST00000497266 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000436757 | ENST00000379613 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000436757 | ENST00000379604 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000436757 | ENST00000319516 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000436757 | ENST00000379608 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000436757 | ENST00000482890 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-5UTR | ENST00000436757 | ENST00000497266 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000356404 | ENST00000379613 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000356404 | ENST00000379604 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000356404 | ENST00000319516 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000356404 | ENST00000379608 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000356404 | ENST00000482890 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-5UTR | ENST00000356404 | ENST00000497266 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000526450 | ENST00000379613 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000526450 | ENST00000379604 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000526450 | ENST00000319516 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000526450 | ENST00000379608 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-3CDS | ENST00000526450 | ENST00000482890 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
| intron-5UTR | ENST00000526450 | ENST00000497266 | PITPNM1 | chr11 | 67271192 | - | TFAP2A | chr6 | 10404960 | - |
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FusionProtFeatures for PITPNM1_TFAP2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PITPNM1 | TFAP2A |
| Regulates RHOA activity, and plays a role incytoskeleton remodeling. Necessary for normal completion ofcytokinesis. Plays a role in maintaining normal diacylglycerollevels in the Golgi apparatus. Binds phosphatidyl inositolphosphates (in vitro). May catalyze the transfer ofphosphatidylinositol and phosphatidylcholine between membranes (Bysimilarity). Necessary for maintaining the normal structure of theendoplasmic reticulum and the Golgi apparatus. Required forprotein export from the endoplasmic reticulum and the Golgi. Bindscalcium ions. {ECO:0000250, ECO:0000269|PubMed:10022914,ECO:0000269|PubMed:11909959, ECO:0000269|PubMed:15545272,ECO:0000269|PubMed:15723057}. | Sequence-specific DNA-binding protein that interactswith inducible viral and cellular enhancer elements to regulatetranscription of selected genes. AP-2 factors bind to theconsensus sequence 5'-GCCNNNGGC-3' and activate genes involved ina large spectrum of important biological functions includingproper eye, face, body wall, limb and neural tube development.They also suppress a number of genes including MCAM/MUC18, C/EBPalpha and MYC. AP-2-alpha is the only AP-2 protein required forearly morphogenesis of the lens vesicle. Together with the CITED2coactivator, stimulates the PITX2 P1 promoter transcriptionactivation. Associates with chromatin to the PITX2 P1 promoterregion. {ECO:0000269|PubMed:11694877,ECO:0000269|PubMed:12586840}. |
| Retention 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 . * 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 PITPNM1_TFAP2A |
| 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 PITPNM1_TFAP2A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PITPNM1_TFAP2A |
| Drugs targeting genes involved in this fusion gene. (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 PITPNM1_TFAP2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PITPNM1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | TFAP2A | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | TFAP2A | C0015393 | Eye Abnormalities | 1 | CTD_human |
| Tgene | TFAP2A | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | TFAP2A | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | TFAP2A | C0265234 | Branchio-Oto-Renal Syndrome | 1 | CTD_human |
| Tgene | TFAP2A | C0376524 | Branchio-Oculo-Facial Syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | TFAP2A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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