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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:COMMD6-HIF1A (FusionGDB2 ID:HG170622TG3091) |
Fusion Gene Summary for COMMD6-HIF1A |
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Fusion gene information | Fusion gene name: COMMD6-HIF1A | Fusion gene ID: hg170622tg3091 | Hgene | Tgene | Gene symbol | COMMD6 | HIF1A | Gene ID | 170622 | 3091 |
Gene name | COMM domain containing 6 | hypoxia inducible factor 1 subunit alpha | |
Synonyms | Acrg | HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 | |
Cytomap | ('COMMD6')('HIF1A') 13q22.2 | 14q23.2 | |
Type of gene | protein-coding | protein-coding | |
Description | COMM domain-containing protein 6Acrg embryonic lethality minimal region ortholog | 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 | 20200313 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000355801, ENST00000377615, ENST00000377619, ENST00000406936, ENST00000460675, | ||
Fusion gene scores | * DoF score | 9 X 5 X 2=90 | 7 X 7 X 3=147 |
# samples | 9 | 7 | |
** MAII score | log2(9/90*10)=0 | log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COMMD6 [Title/Abstract] AND HIF1A [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COMMD6(76100614)-HIF1A(62164977), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COMMD6 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 16573520 |
Tgene | HIF1A | GO:0001666 | response to hypoxia | 8756616|9887100|11782478|15261140|18419598 |
Tgene | HIF1A | GO:0006355 | regulation of transcription, DNA-templated | 11782478|15261140 |
Tgene | HIF1A | GO:0010468 | regulation of gene expression | 18419598 |
Tgene | HIF1A | GO:0010573 | vascular endothelial growth factor production | 12958148 |
Tgene | HIF1A | GO:0010575 | positive regulation of vascular endothelial growth factor production | 8756616 |
Tgene | HIF1A | GO:0010628 | positive regulation of gene expression | 15459207|24244340 |
Tgene | HIF1A | GO:0032364 | oxygen homeostasis | 16956324 |
Tgene | HIF1A | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 8089148|8387214 |
Tgene | HIF1A | GO:0045893 | positive regulation of transcription, DNA-templated | 8089148|9887100|25043030 |
Tgene | HIF1A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
Tgene | HIF1A | GO:0046886 | positive regulation of hormone biosynthetic process | 1448077 |
Tgene | HIF1A | GO:0061419 | positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | 22735262 |
Tgene | HIF1A | GO:0071456 | cellular response to hypoxia | 11573933|19528298|20889502 |
Tgene | HIF1A | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19782034 |
Tgene | HIF1A | GO:1903377 | negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | 24899725 |
![]() * 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 | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for COMMD6-HIF1A |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for COMMD6-HIF1A |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for COMMD6-HIF1A |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:76100614/:62164977) - 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. |
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Hgene | Tgene |
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FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for COMMD6-HIF1A |
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Fusion Gene PPI Analysis for COMMD6-HIF1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for COMMD6-HIF1A |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for COMMD6-HIF1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0027055 | Myocardial Reperfusion Injury | 2 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 2 | CTD_human | |
Tgene | C0002793 | Anaplasia | 1 | CTD_human | |
Tgene | C0004114 | Astrocytoma | 1 | CTD_human | |
Tgene | C0005586 | Bipolar Disorder | 1 | PSYGENET | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0007114 | Malignant neoplasm of skin | 1 | CTD_human | |
Tgene | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human | |
Tgene | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0007786 | Brain Ischemia | 1 | CTD_human | |
Tgene | C0008312 | Primary biliary cirrhosis | 1 | CTD_human | |
Tgene | C0008313 | Cholangitis, Sclerosing | 1 | CTD_human | |
Tgene | C0011570 | Mental Depression | 1 | PSYGENET | |
Tgene | C0017636 | Glioblastoma | 1 | CTD_human | |
Tgene | C0018798 | Congenital Heart Defects | 1 | CTD_human | |
Tgene | C0018800 | Cardiomegaly | 1 | CTD_human | |
Tgene | C0018801 | Heart failure | 1 | CTD_human | |
Tgene | C0018802 | Congestive heart failure | 1 | CTD_human | |
Tgene | C0020507 | Hyperplasia | 1 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 1 | CTD_human | |
Tgene | C0020542 | Pulmonary Hypertension | 1 | CTD_human | |
Tgene | C0023212 | Left-Sided Heart Failure | 1 | CTD_human | |
Tgene | C0023892 | Biliary cirrhosis | 1 | CTD_human | |
Tgene | C0024115 | Lung diseases | 1 | CTD_human | |
Tgene | C0027659 | Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0037286 | Skin Neoplasms | 1 | CTD_human | |
Tgene | C0040136 | Thyroid Neoplasm | 1 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 1 | PSYGENET | |
Tgene | C0151468 | Thyroid Gland Follicular Adenoma | 1 | CTD_human | |
Tgene | C0178540 | Cerebral Hypoxia-Ischemia | 1 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0205768 | Subependymal Giant Cell Astrocytoma | 1 | CTD_human | |
Tgene | C0206734 | Hemangioblastoma | 1 | CTD_human | |
Tgene | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human | |
Tgene | C0235874 | Disease Exacerbation | 1 | CTD_human | |
Tgene | C0238065 | Secondary Biliary Cholangitis | 1 | CTD_human | |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human | |
Tgene | C0280783 | Juvenile Pilocytic Astrocytoma | 1 | CTD_human | |
Tgene | C0280785 | Diffuse Astrocytoma | 1 | CTD_human | |
Tgene | C0334579 | Anaplastic astrocytoma | 1 | CTD_human | |
Tgene | C0334580 | Protoplasmic astrocytoma | 1 | CTD_human | |
Tgene | C0334581 | Gemistocytic astrocytoma | 1 | CTD_human | |
Tgene | C0334582 | Fibrillary Astrocytoma | 1 | CTD_human | |
Tgene | C0334583 | Pilocytic Astrocytoma | 1 | CTD_human | |
Tgene | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human | |
Tgene | C0338070 | Childhood Cerebral Astrocytoma | 1 | CTD_human | |
Tgene | C0342257 | Complications of Diabetes Mellitus | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C0525045 | Mood Disorders | 1 | PSYGENET | |
Tgene | C0547065 | Mixed oligoastrocytoma | 1 | CTD_human | |
Tgene | C0549473 | Thyroid carcinoma | 1 | CTD_human | |
Tgene | C0566602 | Primary sclerosing cholangitis | 1 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C0750935 | Cerebral Astrocytoma | 1 | CTD_human | |
Tgene | C0750936 | Intracranial Astrocytoma | 1 | CTD_human | |
Tgene | C0751692 | Multiple Hemangioblastomas | 1 | CTD_human | |
Tgene | C0752304 | Hypoxic-Ischemic Encephalopathy | 1 | CTD_human | |
Tgene | C0752305 | Anoxic-Ischemic Encephalopathy | 1 | CTD_human | |
Tgene | C0752306 | Anoxia-Ischemia, Brain | 1 | CTD_human | |
Tgene | C0752307 | Anoxia-Ischemia, Cerebral | 1 | CTD_human | |
Tgene | C0752308 | Hypoxia-Ischemia, Brain | 1 | CTD_human | |
Tgene | C0917798 | Cerebral Ischemia | 1 | CTD_human | |
Tgene | C1176475 | Ductal Carcinoma | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1269683 | Major Depressive Disorder | 1 | PSYGENET | |
Tgene | C1332347 | Atypical Ductal Breast Hyperplasia | 1 | CTD_human | |
Tgene | C1383860 | Cardiac Hypertrophy | 1 | CTD_human | |
Tgene | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human | |
Tgene | C1449862 | Micronuclei, Genotoxicant-Induced | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C1621958 | Glioblastoma Multiforme | 1 | CTD_human | |
Tgene | C1704230 | Grade I Astrocytoma | 1 | CTD_human | |
Tgene | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human | |
Tgene | C1959583 | Myocardial Failure | 1 | CTD_human | |
Tgene | C1961112 | Heart Decompensation | 1 | CTD_human | |
Tgene | C4551595 | Biliary Cirrhosis, Primary, 1 | 1 | CTD_human | |
Tgene | C4551637 | Erythrocytosis familial, 1 | 1 | GENOMICS_ENGLAND | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human | |
Tgene | C4721508 | Hamman-Rich Disease | 1 | CTD_human | |
Tgene | C4721509 | Usual Interstitial Pneumonia | 1 | CTD_human | |
Tgene | C4721952 | Familial Idiopathic Pulmonary Fibrosis | 1 | CTD_human |