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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:COMT-PHKB (FusionGDB2 ID:HG1312TG5257) |
Fusion Gene Summary for COMT-PHKB |
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Fusion gene information | Fusion gene name: COMT-PHKB | Fusion gene ID: hg1312tg5257 | Hgene | Tgene | Gene symbol | COMT | PHKB | Gene ID | 1312 | 5257 |
Gene name | catechol-O-methyltransferase | phosphorylase kinase regulatory subunit beta | |
Synonyms | HEL-S-98n | - | |
Cytomap | ('COMT')('PHKB') 22q11.21 | 16q12.1 | |
Type of gene | protein-coding | protein-coding | |
Description | catechol O-methyltransferasecatechol-O-methyltransferase isoformepididymis secretory sperm binding protein Li 98ntesticular tissue protein Li 42 | phosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, beta | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | P21964 | . | |
Ensembl transtripts involved in fusion gene | ENST00000361682, ENST00000403184, ENST00000403710, ENST00000406520, ENST00000407537, ENST00000449653, ENST00000493893, | ||
Fusion gene scores | * DoF score | 13 X 12 X 5=780 | 13 X 17 X 9=1989 |
# samples | 15 | 15 | |
** MAII score | log2(15/780*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1989*10)=-3.72900887033786 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COMT [Title/Abstract] AND PHKB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COMT(19948812)-PHKB(47545576), # 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 | COMT | GO:0042424 | catecholamine catabolic process | 15645182|21846718 |
![]() * 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 |
ChimerDB4 | STAD | TCGA-BR-A4IY-01A | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
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Fusion Gene ORF analysis for COMT-PHKB |
![]() * 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 |
5UTR-3CDS | ENST00000361682 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000361682 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000361682 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000361682 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403184 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403184 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403184 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403184 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403710 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403710 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403710 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000403710 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000406520 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000406520 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000406520 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000406520 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000407537 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000407537 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000407537 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3CDS | ENST00000407537 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3UTR | ENST00000361682 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3UTR | ENST00000403184 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3UTR | ENST00000403710 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3UTR | ENST00000406520 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
5UTR-3UTR | ENST00000407537 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000449653 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000449653 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000449653 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000449653 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000493893 | ENST00000299167 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000493893 | ENST00000323584 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000493893 | ENST00000455779 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3CDS | ENST00000493893 | ENST00000566044 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3UTR | ENST00000449653 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
intron-3UTR | ENST00000493893 | ENST00000567402 | COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545576 | + |
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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 COMT-PHKB |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545575 | + | 5.24E-05 | 0.99994767 |
COMT | chr22 | 19948812 | + | PHKB | chr16 | 47545575 | + | 5.24E-05 | 0.99994767 |
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Fusion Protein Features for COMT-PHKB |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:19948812/:47545576) - 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 |
COMT | . |
FUNCTION: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. {ECO:0000269|PubMed:11559542, ECO:0000269|PubMed:21846718}. | 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 COMT-PHKB |
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Fusion Gene PPI Analysis for COMT-PHKB |
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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 COMT-PHKB |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COMT | P21964 | DB00494 | Entacapone | Inhibitor | Small molecule | Approved|Investigational |
Hgene | COMT | P21964 | DB11632 | Opicapone | Antagonist | Small molecule | Approved|Investigational |
Hgene | COMT | P21964 | DB00118 | Ademetionine | Cofactor | Small molecule | Approved|Investigational|Nutraceutical |
Hgene | COMT | P21964 | DB00323 | Tolcapone | Inhibitor | Small molecule | Approved|Withdrawn |
Hgene | COMT | P21964 | DB04820 | Nialamide | Small molecule | Approved|Withdrawn |
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Related Diseases for COMT-PHKB |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COMT | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET |
Hgene | COMT | C0001723 | Affective Disorders, Psychotic | 5 | PSYGENET |
Hgene | COMT | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | COMT | C0011581 | Depressive disorder | 5 | PSYGENET |
Hgene | COMT | C0041696 | Unipolar Depression | 5 | PSYGENET |
Hgene | COMT | C0525045 | Mood Disorders | 5 | PSYGENET |
Hgene | COMT | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
Hgene | COMT | C0036341 | Schizophrenia | 4 | CTD_human |
Hgene | COMT | C0005587 | Depression, Bipolar | 3 | CTD_human;PSYGENET |
Hgene | COMT | C0006142 | Malignant neoplasm of breast | 3 | CTD_human |
Hgene | COMT | C0024809 | Marijuana Abuse | 3 | PSYGENET |
Hgene | COMT | C0600427 | Cocaine Dependence | 3 | CTD_human;PSYGENET |
Hgene | COMT | C0678222 | Breast Carcinoma | 3 | CTD_human |
Hgene | COMT | C1257931 | Mammary Neoplasms, Human | 3 | CTD_human |
Hgene | COMT | C1458155 | Mammary Neoplasms | 3 | CTD_human |
Hgene | COMT | C4704874 | Mammary Carcinoma, Human | 3 | CTD_human |
Hgene | COMT | C0233477 | Dysphoric mood | 2 | PSYGENET |
Hgene | COMT | C3160814 | Cannabis use | 2 | PSYGENET |
Hgene | COMT | C0001956 | Alcohol Use Disorder | 1 | CTD_human |
Hgene | COMT | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human |
Hgene | COMT | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | COMT | C0004930 | Behavior Disorders | 1 | CTD_human |
Hgene | COMT | C0004936 | Mental disorders | 1 | CTD_human |
Hgene | COMT | C0009171 | Cocaine Abuse | 1 | CTD_human |
Hgene | COMT | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | COMT | C0012236 | DiGeorge Syndrome | 1 | CTD_human;ORPHANET |
Hgene | COMT | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
Hgene | COMT | C0020429 | Hyperalgesia | 1 | CTD_human |
Hgene | COMT | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | COMT | C0024713 | Manic Disorder | 1 | CTD_human |
Hgene | COMT | C0025261 | Memory Disorders | 1 | CTD_human |
Hgene | COMT | C0026858 | Musculoskeletal Pain | 1 | CTD_human |
Hgene | COMT | C0030193 | Pain | 1 | CTD_human |
Hgene | COMT | C0031511 | Pheochromocytoma | 1 | CTD_human |
Hgene | COMT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | COMT | C0039494 | Temporomandibular Joint Disorders | 1 | CTD_human |
Hgene | COMT | C0041671 | Attention Deficit Disorder | 1 | CTD_human |
Hgene | COMT | C0085762 | Alcohol abuse | 1 | CTD_human |
Hgene | COMT | C0086133 | Depressive Syndrome | 1 | PSYGENET |
Hgene | COMT | C0178417 | Anhedonia | 1 | PSYGENET |
Hgene | COMT | C0220704 | Shprintzen syndrome | 1 | CTD_human;ORPHANET |
Hgene | COMT | C0233794 | Memory impairment | 1 | CTD_human |
Hgene | COMT | C0234230 | Pain, Burning | 1 | CTD_human |
Hgene | COMT | C0234238 | Ache | 1 | CTD_human |
Hgene | COMT | C0234254 | Radiating pain | 1 | CTD_human |
Hgene | COMT | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Hgene | COMT | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Hgene | COMT | C0236804 | Amphetamine Addiction | 1 | CTD_human |
Hgene | COMT | C0236807 | Amphetamine Abuse | 1 | CTD_human |
Hgene | COMT | C0338831 | Manic | 1 | CTD_human |
Hgene | COMT | C0376338 | Diagnosis, Psychiatric | 1 | CTD_human |
Hgene | COMT | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | COMT | C0458247 | Allodynia | 1 | CTD_human |
Hgene | COMT | C0458257 | Pain, Splitting | 1 | CTD_human |
Hgene | COMT | C0458259 | Pain, Crushing | 1 | CTD_human |
Hgene | COMT | C0525046 | Schizophrenia Spectrum and Other Psychotic Disorders | 1 | CTD_human |
Hgene | COMT | C0751211 | Hyperalgesia, Primary | 1 | CTD_human |
Hgene | COMT | C0751212 | Hyperalgesia, Secondary | 1 | CTD_human |
Hgene | COMT | C0751213 | Tactile Allodynia | 1 | CTD_human |
Hgene | COMT | C0751214 | Hyperalgesia, Thermal | 1 | CTD_human |
Hgene | COMT | C0751292 | Age-Related Memory Disorders | 1 | CTD_human |
Hgene | COMT | C0751293 | Memory Disorder, Semantic | 1 | CTD_human |
Hgene | COMT | C0751294 | Memory Disorder, Spatial | 1 | CTD_human |
Hgene | COMT | C0751295 | Memory Loss | 1 | CTD_human |
Hgene | COMT | C0751407 | Pain, Migratory | 1 | CTD_human |
Hgene | COMT | C0751408 | Suffering, Physical | 1 | CTD_human |
Hgene | COMT | C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | 1 | CTD_human;ORPHANET |
Hgene | COMT | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human |
Hgene | COMT | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | COMT | C1263846 | Attention deficit hyperactivity disorder | 1 | CTD_human |
Hgene | COMT | C1306067 | Drug-induced paranoid state | 1 | PSYGENET |
Hgene | COMT | C1321905 | Minimal Brain Dysfunction | 1 | CTD_human |
Hgene | COMT | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | COMT | C2750088 | HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO | 1 | CTD_human |
Hgene | COMT | C2936719 | Mechanical Allodynia | 1 | CTD_human |
Hgene | COMT | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 1 | GENOMICS_ENGLAND |
Hgene | COMT | C4046029 | Mental Disorders, Severe | 1 | CTD_human |
Tgene | C0543514 | Glycogen Storage Disease IXB | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0017919 | Glycogen Storage Disease | 1 | GENOMICS_ENGLAND |