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Fusion gene ID: 16173 |
FusionGeneSummary for HIF1A_C14orf37 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIF1A_C14orf37 | Fusion gene ID: 16173 | Hgene | Tgene | Gene symbol | HIF1A | C14orf37 | Gene ID | 3091 |
| Gene name | hypoxia inducible factor 1 subunit alpha | ||
| Synonyms | HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 | ||
| Cytomap | 14q23.2 | ||
| Type of gene | protein-coding | ||
| Description | hypoxia-inducible factor 1-alphaARNT interacting proteinPAS domain-containing protein 8basic-helix-loop-helix-PAS protein MOP1class E basic helix-loop-helix protein 78hypoxia inducible factor 1 alpha subunithypoxia inducible factor 1, alpha subunit | ||
| Modification date | 20180527 | ||
| UniProtAcc | Q16665 | ||
| Ensembl transtripts involved in fusion gene | ENST00000394997, ENST00000337138, ENST00000323441, ENST00000557538, ENST00000539097, ENST00000557206, | ENST00000267485, ENST00000334342, | |
| Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 11 X 10 X 3=330 |
| # samples | 13 | 12 | |
| ** MAII score | log2(13/504*10)=-1.95491211047146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/330*10)=-1.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HIF1A [Title/Abstract] AND C14orf37 [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 | HIF1A | GO:0001666 | response to hypoxia | 8756616|9887100|11782478|15261140|18419598 |
| Hgene | HIF1A | GO:0006355 | regulation of transcription, DNA-templated | 11782478|15261140 |
| Hgene | HIF1A | GO:0010468 | regulation of gene expression | 18419598 |
| Hgene | HIF1A | GO:0010573 | vascular endothelial growth factor production | 12958148 |
| Hgene | HIF1A | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
| Hgene | HIF1A | GO:0010628 | positive regulation of gene expression | 15459207|24244340 |
| Hgene | HIF1A | GO:0032364 | oxygen homeostasis | 16956324 |
| Hgene | HIF1A | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148|8387214 |
| Hgene | HIF1A | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148|9887100 |
| Hgene | HIF1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933|25043030 |
| Hgene | HIF1A | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
| Hgene | HIF1A | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 22735262 |
| Hgene | HIF1A | GO:0071456 | cellular response to hypoxia | 11573933|19528298|20889502 |
| Hgene | HIF1A | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 24899725 |
| 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 | SARC | TCGA-LI-A9QH-01A | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| * 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-5UTR | ENST00000394997 | ENST00000267485 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| 5CDS-5UTR | ENST00000394997 | ENST00000334342 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| 5CDS-5UTR | ENST00000337138 | ENST00000267485 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| 5CDS-5UTR | ENST00000337138 | ENST00000334342 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| 5CDS-5UTR | ENST00000323441 | ENST00000267485 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| 5CDS-5UTR | ENST00000323441 | ENST00000334342 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| intron-5UTR | ENST00000557538 | ENST00000267485 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| intron-5UTR | ENST00000557538 | ENST00000334342 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| intron-5UTR | ENST00000539097 | ENST00000267485 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| intron-5UTR | ENST00000539097 | ENST00000334342 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| intron-5UTR | ENST00000557206 | ENST00000267485 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
| intron-5UTR | ENST00000557206 | ENST00000334342 | HIF1A | chr14 | 62162557 | + | C14orf37 | chr14 | 58606132 | - |
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FusionProtFeatures for HIF1A_C14orf37 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIF1A | C14orf37 |
| Functions as a master transcriptional regulator of theadaptive response to hypoxia. Under hypoxic conditions, activatesthe transcription of over 40 genes, including erythropoietin,glucose transporters, glycolytic enzymes, vascular endothelialgrowth factor, HILPDA, and other genes whose protein productsincrease oxygen delivery or facilitate metabolic adaptation tohypoxia. Plays an essential role in embryonic vascularization,tumor angiogenesis and pathophysiology of ischemic disease.Heterodimerizes with ARNT; heterodimer binds to core DNA sequence5'-TACGTG-3' within the hypoxia response element (HRE) of targetgene promoters (By similarity). Activation requires recruitment oftranscriptional coactivators such as CREBBP and EP300. Activity isenhanced by interaction with both, NCOA1 or NCOA2. Interactionwith redox regulatory protein APEX seems to activate CTAD andpotentiates activation by NCOA1 and CREBBP. Involved in the axonaldistribution and transport of mitochondria in neurons duringhypoxia. {ECO:0000250|UniProtKB:Q61221,ECO:0000269|PubMed:11292861, ECO:0000269|PubMed:11566883,ECO:0000269|PubMed:15465032, ECO:0000269|PubMed:16543236,ECO:0000269|PubMed:16973622, ECO:0000269|PubMed:17610843,ECO:0000269|PubMed:19528298, ECO:0000269|PubMed:20624928,ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:9887100}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 HIF1A_C14orf37 |
| 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 HIF1A_C14orf37 |
| 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 |
| HIF1A | SSX4, VHL, PSMC3, ZNF197, MDM2, TP53, HIF1AN, HDAC1, HDAC2, HDAC3, EP300, CREBBP, PSMA7, DAP3, NCOA1, APEX1, JUN, ARNT, HSP90AA1, ARNTL, STAT3, NR4A1, SAT1, GNB2L1, MTA1, NAA10, SAT2, TCEB1, CUL2, HSPA4, SEPT9, EGLN1, BANP, HDAC4, HDAC5, USP20, OS9, EGLN3, HDAC6, VHLL, SHC1, PARP1, EGLN2, SMARCA2, SMARCA4, MYC, MAX, RUVBL2, MCM7, MCM3, HSP90AB1, COMMD1, NSFL1C, FAF2, FAF1, UBXN7, UBXN1, VCP, STUB1, TCEB2, FBXW7, SP1, RAD23B, KDM3A, BCR, DNAJB1, RWDD3, USP19, UBE2D1, CDC34, PTGES3, COPS5, HDAC7, KAT2B, F12, BHLHE41, RUNX2, BRCA1, CAPN1, LAMP2, BCL2, NDN, CDKN2A, ESR1, RPTOR, RELA, PKM, EPAS1, SMAD3, SRC, MAFG, MAFK, RBX1, DCUN1D1, PCGF2, RB1, HSPA8, HEXIM1, SQSTM1, TRAF6, ARNT2, TRIM28, SIN3A, SART3, ATM, SENP3, FHL2, MAPK1, PLD1, CTNNB1, WWOX, WWTR1, UBE2I, CDK8, MED12, MED13, MED13L, MED14, MED15, MED23, EAF2, FDX1, FN1, TTC1, PIAS1, ZNF518A, CEP350, NES, MID2, PLEKHA5, UACA, NLN, NBEAL1, GKAP1, UTP23, C19orf70, TCEANC2, LYSMD2, OTUD7B, PLD2, PSMD10, ING1, GPLD1, RHOBTB3, ZC3H12A, SPRY2, MYH6, MYH2, MYH1, MYH3, ACTA1, MYH4, MYL1, H2AFX, PSMA4, LINC01139, PTK6, LRRK2, FASN, IKBKG, IKBKB, HSPA1L | C14orf37 | BMPR2, BMPR1A, NDFIP1, CD320, FGFR1, TRIM25 |
| - 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 HIF1A_C14orf37 |
| 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 |
| Hgene | HIF1A | Q16665 | DB01136 | Carvedilol | Hypoxia-inducible factor 1-alpha {ECO:0000303|PubMed:7539918} | small molecule | approved|investigational |
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RelatedDiseases for HIF1A_C14orf37 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HIF1A | C0027055 | Myocardial Reperfusion Injury | 2 | CTD_human |
| Hgene | HIF1A | C0002793 | Anaplasia | 1 | CTD_human |
| Hgene | HIF1A | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | HIF1A | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | HIF1A | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
| Hgene | HIF1A | C0007786 | Brain Ischemia | 1 | CTD_human |
| Hgene | HIF1A | C0008313 | Cholangitis, Sclerosing | 1 | CTD_human |
| Hgene | HIF1A | C0011570 | Mental Depression | 1 | PSYGENET |
| Hgene | HIF1A | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | HIF1A | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | HIF1A | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | HIF1A | C0018801 | Heart failure | 1 | CTD_human |
| Hgene | HIF1A | C0020507 | Hyperplasia | 1 | CTD_human |
| Hgene | HIF1A | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | HIF1A | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| Hgene | HIF1A | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| Hgene | HIF1A | C0024115 | Lung diseases | 1 | CTD_human |
| Hgene | HIF1A | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | HIF1A | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | HIF1A | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | HIF1A | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Hgene | HIF1A | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Hgene | HIF1A | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | HIF1A | C0206734 | Hemangioblastoma | 1 | CTD_human |
| Hgene | HIF1A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | HIF1A | C0342257 | Complications of Diabetes Mellitus | 1 | CTD_human |
| Hgene | HIF1A | C0525045 | Mood Disorders | 1 | PSYGENET |
| Hgene | HIF1A | C0752308 | Hypoxia-Ischemia, Brain | 1 | CTD_human |
| Hgene | HIF1A | C1176475 | Ductal Carcinoma | 1 | CTD_human |
| Hgene | HIF1A | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | HIF1A | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
| Hgene | HIF1A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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