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Kinase Fusion Gene:HIPK1_UROD |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: HIPK1_UROD | KinaseFusionDB ID: KFG2682 | FusionGDB2.0 ID: KFG2682 | Hgene | Tgene | Gene symbol | HIPK1 | UROD | Gene ID | 204851 | 7389 | |
Gene name | homeodomain interacting protein kinase 1 | uroporphyrinogen decarboxylase | ||||||||||
Synonyms | Myak|Nbak2 | PCT|UPD | ||||||||||
Cytomap | 1p13.2 | 1p34.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | homeodomain-interacting protein kinase 1homeodomain interacting protein kinase 1-like proteinnuclear body associated kinase 2bnuclear body-associated kinase 2 | uroporphyrinogen decarboxylaseuroporphyrinogen III decarboxylase | ||||||||||
Modification date | 20240403 | 20240403 | ||||||||||
UniProtAcc | Q86Z02 | P06132 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000340480, ENST00000369553, ENST00000369554, ENST00000369555, ENST00000369558, ENST00000369561, ENST00000406344, ENST00000426820, ENST00000369559, | ENST00000494399, ENST00000246337, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: HIPK1 [Title/Abstract] AND UROD [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HIPK1(114515938)-UROD(45480619), # samples:2 |
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 | HIPK1 | GO:0006468 | protein phosphorylation | 24559171 |
Hgene | HIPK1 | GO:0010803 | regulation of tumor necrosis factor-mediated signaling pathway | 15701637 |
Hgene | HIPK1 | GO:0072577 | endothelial cell apoptotic process | 15701637 |
Hgene | HIPK1 | GO:0097191 | extrinsic apoptotic signaling pathway | 15701637 |
Tgene | UROD | GO:0006778 | porphyrin-containing compound metabolic process | 12071824 |
Tgene | UROD | GO:0006787 | porphyrin-containing compound catabolic process | 11069625|11719352|14633982|21668429 |
Kinase Fusion gene breakpoints across HIPK1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Kinase Fusion gene breakpoints across UROD (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
Kinase Fusion gene information. |
Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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. |
Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
ChiTaRS5.0 | BE772547 | HIPK1 | chr1 | 114515938 | UROD | chr1 | 45480619 |
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Kinase Fusion ORF Analysis |
Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:114515938/chr1:45480619) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HIPK1 | UROD |
FUNCTION: Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN (PubMed:24559171). {ECO:0000269|PubMed:12702766, ECO:0000269|PubMed:12968034, ECO:0000269|PubMed:15701637, ECO:0000269|PubMed:16390825, ECO:0000269|PubMed:19646965, ECO:0000269|PubMed:24559171}. | FUNCTION: Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:14633982, PubMed:11069625, PubMed:21668429, PubMed:11719352, PubMed:18004775). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:14633982, PubMed:11069625, PubMed:21668429, PubMed:11719352). In vitro also decarboxylates pentacarboxylate porphyrinogen I (PubMed:12071824). {ECO:0000269|PubMed:11069625, ECO:0000269|PubMed:11719352, ECO:0000269|PubMed:12071824, ECO:0000269|PubMed:14633982, ECO:0000269|PubMed:18004775, ECO:0000269|PubMed:21668429}. |
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. |
- Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
- Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of HIPK1_UROD |
Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
HIPK1 | Q86Z02 | human | MECP2 | P51608 | S216 | VkRVLEKsPGkLLVk | |
HIPK1 | Q86Z02 | human | MECP2 | P51608 | S80 | AVPEAsAsPKQRRsI | |
HIPK1 | Q86Z02 | human | PAGE4 | O60829 | T51 | PGQEREGtPPIEERK | GAGE |
HIPK1 | Q86Z02 | human | CREB1 | P16220 | S257 | PGVVMAssPALPTQP |
Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
Enriched GO biological processes of the phosphorylation target genes of the kinase |
Kinase | GOID | GO term | P.adjust |
HIPK1 | ID | Description | 0.00e+00 |
HIPK1 | GO:0048286 | lung alveolus development | 7.83e-03 |
HIPK1 | GO:0021536 | diencephalon development | 1.03e-02 |
HIPK1 | GO:0007613 | memory | 1.66e-02 |
HIPK1 | GO:0048639 | positive regulation of developmental growth | 1.88e-02 |
HIPK1 | GO:0030324 | lung development | 1.88e-02 |
HIPK1 | GO:0030323 | respiratory tube development | 1.88e-02 |
HIPK1 | GO:0071248 | cellular response to metal ion | 1.88e-02 |
HIPK1 | GO:0060541 | respiratory system development | 1.89e-02 |
HIPK1 | GO:0071241 | cellular response to inorganic substance | 1.92e-02 |
HIPK1 | GO:0045927 | positive regulation of growth | 2.05e-02 |
HIPK1 | GO:0007611 | learning or memory | 2.05e-02 |
HIPK1 | GO:0050890 | cognition | 2.05e-02 |
HIPK1 | GO:0008202 | steroid metabolic process | 2.05e-02 |
HIPK1 | GO:0048638 | regulation of developmental growth | 2.05e-02 |
HIPK1 | GO:0010038 | response to metal ion | 2.05e-02 |
HIPK1 | GO:0030900 | forebrain development | 2.05e-02 |
HIPK1 | GO:0060430 | lung saccule development | 2.05e-02 |
HIPK1 | GO:1902513 | regulation of organelle transport along microtubule | 2.05e-02 |
HIPK1 | GO:1903799 | negative regulation of miRNA processing | 2.05e-02 |
HIPK1 | GO:0010720 | positive regulation of cell development | 2.05e-02 |
HIPK1 | GO:0006349 | regulation of gene expression by genomic imprinting | 2.05e-02 |
HIPK1 | GO:0031915 | positive regulation of synaptic plasticity | 2.05e-02 |
HIPK1 | GO:0031987 | locomotion involved in locomotory behavior | 2.05e-02 |
HIPK1 | GO:0032253 | dense core granule localization | 2.05e-02 |
HIPK1 | GO:0061370 | testosterone biosynthetic process | 2.05e-02 |
HIPK1 | GO:0099519 | dense core granule cytoskeletal transport | 2.05e-02 |
HIPK1 | GO:1901950 | dense core granule transport | 2.05e-02 |
HIPK1 | GO:0002087 | regulation of respiratory gaseous exchange by nervous system process | 2.05e-02 |
HIPK1 | GO:0010944 | negative regulation of transcription by competitive promoter binding | 2.05e-02 |
HIPK1 | GO:0014072 | response to isoquinoline alkaloid | 2.05e-02 |
HIPK1 | GO:0048755 | branching morphogenesis of a nerve | 2.05e-02 |
HIPK1 | GO:0060965 | negative regulation of miRNA-mediated gene silencing | 2.05e-02 |
HIPK1 | GO:0021794 | thalamus development | 2.05e-02 |
HIPK1 | GO:0035865 | cellular response to potassium ion | 2.05e-02 |
HIPK1 | GO:0048521 | negative regulation of behavior | 2.05e-02 |
HIPK1 | GO:0060149 | negative regulation of post-transcriptional gene silencing | 2.05e-02 |
HIPK1 | GO:0060967 | negative regulation of gene silencing by regulatory ncRNA | 2.05e-02 |
HIPK1 | GO:0061000 | negative regulation of dendritic spine development | 2.05e-02 |
HIPK1 | GO:1900369 | negative regulation of post-transcriptional gene silencing by regulatory ncRNA | 2.05e-02 |
HIPK1 | GO:0001976 | nervous system process involved in regulation of systemic arterial blood pressure | 2.05e-02 |
HIPK1 | GO:0032252 | secretory granule localization | 2.05e-02 |
HIPK1 | GO:1904321 | response to forskolin | 2.05e-02 |
HIPK1 | GO:1904322 | cellular response to forskolin | 2.05e-02 |
HIPK1 | GO:0044065 | regulation of respiratory system process | 2.05e-02 |
HIPK1 | GO:1903651 | positive regulation of cytoplasmic transport | 2.05e-02 |
HIPK1 | GO:0032048 | cardiolipin metabolic process | 2.05e-02 |
HIPK1 | GO:0035729 | cellular response to hepatocyte growth factor stimulus | 2.05e-02 |
HIPK1 | GO:0048712 | negative regulation of astrocyte differentiation | 2.05e-02 |
HIPK1 | GO:1903798 | regulation of miRNA processing | 2.05e-02 |
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Related Drugs to HIPK1_UROD |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
Distribution of the number of studies mentioning HIPK1-UROD and kinase inhibitors the PubMed Abstract (04-01-2024) |
Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to HIPK1_UROD |
Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
MeSH ID | MeSH term |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
Clinical Trials from clinicaltrials.gov (06-17-2024) |
Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |