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Fusion gene ID: 525 |
FusionGeneSummary for ACTB_HIPK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACTB_HIPK2 | Fusion gene ID: 525 | Hgene | Tgene | Gene symbol | ACTB | HIPK2 | Gene ID | 60 | 28996 |
| Gene name | actin beta | homeodomain interacting protein kinase 2 | |
| Synonyms | BRWS1|PS1TP5BP1 | PRO0593 | |
| Cytomap | 7p22.1 | 7q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | homeodomain-interacting protein kinase 2hHIPk2 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P60709 | Q9H2X6 | |
| Ensembl transtripts involved in fusion gene | ENST00000464611, ENST00000331789, | ENST00000406875, ENST00000428878, ENST00000342645, | |
| Fusion gene scores | * DoF score | 28 X 19 X 14=7448 | 5 X 5 X 2=50 |
| # samples | 37 | 5 | |
| ** MAII score | log2(37/7448*10)=-4.33125589704248 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
| Context | PubMed: ACTB [Title/Abstract] AND HIPK2 [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 | ACTB | GO:0098974 | postsynaptic actin cytoskeleton organization | 18341992 |
| Tgene | HIPK2 | GO:0006468 | protein phosphorylation | 19448668 |
| Tgene | HIPK2 | GO:0006978 | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 14647468 |
| Tgene | HIPK2 | GO:0045766 | positive regulation of angiogenesis | 19046997 |
| Tgene | HIPK2 | GO:0060395 | SMAD protein signal transduction | 12874272 |
| 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 | BE828383 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
| * 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-5UTR | ENST00000464611 | ENST00000406875 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
| intron-5UTR | ENST00000464611 | ENST00000428878 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
| intron-intron | ENST00000464611 | ENST00000342645 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
| intron-5UTR | ENST00000331789 | ENST00000406875 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
| intron-5UTR | ENST00000331789 | ENST00000428878 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
| intron-intron | ENST00000331789 | ENST00000342645 | ACTB | chr7 | 5567674 | + | HIPK2 | chr7 | 139477503 | + |
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FusionProtFeatures for ACTB_HIPK2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACTB | HIPK2 |
| Serine/threonine-protein kinase involved intranscription regulation, p53/TP53-mediated cellular apoptosis andregulation of the cell cycle. Acts as a corepressor of severaltranscription factors, including SMAD1 and POU4F1/Brn3a andprobably NK homeodomain transcription factors. PhosphorylatesPDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300,CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotesapoptosis through the activation of p53/TP53 both at thetranscription level and at the protein level (by phosphorylationand indirect acetylation). The phosphorylation of p53/TP53 may bemediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in theresponse to hypoxia by acting as a transcriptional co-suppressorof HIF1A. Mediates transcriptional activation of TP73. In responseto TGFB, cooperates with DAXX to activate JNK. Negative regulatorthrough phosphorylation and subsequent proteasomal degradation ofCTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-cateninsignaling pathway acts as an intermediate kinase betweenMAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB.Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcriptionfactors by phosphorylation in response to genotoxic stress. Inresponse to DNA damage, stabilizes PML by phosphorylation. PML,HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involvedin erythroid differentiation, especially during fetal livererythropoiesis. Phosphorylation of RUNX1 and EP300 stimulatesEP300 transcription regulation activity. Triggers ZBTB4 proteindegradation in response to DNA damage. Modulates HMGA1 DNA-bindingaffinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in theregulation of eye size, lens formation and retinal laminationduring late embryogenesis. {ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404,ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985,ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875,ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579,ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997,ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497,ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728,ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925,ECO:0000269|PubMed:22825850}. |
| 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 ACTB_HIPK2 |
| 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 ACTB_HIPK2 |
| 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 ACTB_HIPK2 |
| 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 ACTB_HIPK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACTB | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | ACTB | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | ACTB | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
| Hgene | ACTB | C0013393 | Dysostoses | 1 | CTD_human |
| Hgene | ACTB | C0013421 | Dystonia | 1 | CTD_human |
| Hgene | ACTB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human;HPO |
| Hgene | ACTB | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | ACTB | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | ACTB | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Hgene | ACTB | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | ACTB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | ACTB | C0242184 | Hypoxia | 1 | CTD_human |
| Hgene | ACTB | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | ACTB | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
| Hgene | ACTB | C1846331 | Juvenile-onset dystonia | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ACTB | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET;UNIPROT |
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