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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:CYP2C19-HELLS (FusionGDB2 ID:HG1557TG3070) |
Fusion Gene Summary for CYP2C19-HELLS |
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Fusion gene information | Fusion gene name: CYP2C19-HELLS | Fusion gene ID: hg1557tg3070 | Hgene | Tgene | Gene symbol | CYP2C19 | HELLS | Gene ID | 1557 | 3070 |
Gene name | cytochrome P450 family 2 subfamily C member 19 | helicase, lymphoid specific | |
Synonyms | CPCJ|CYP2C|CYPIIC17|CYPIIC19|P450C2C|P450IIC19 | ICF4|LSH|Nbla10143|PASG|SMARCA6 | |
Cytomap | ('CYP2C19')('HELLS') 10q23.33 | 10q23.33 | |
Type of gene | protein-coding | protein-coding | |
Description | cytochrome P450 2C19(R)-limonene 6-monooxygenase(S)-limonene 6-monooxygenase(S)-limonene 7-monooxygenaseS-mephenytoin 4-hydroxylasecytochrome P-450 II Ccytochrome P450, family 2, subfamily C, polypeptide 19cytochrome P450, subfamily IIC (mephenytoi | lymphoid-specific helicaseSWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6proliferation-associated SNF2-like protein | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | P33261 | . | |
Ensembl transtripts involved in fusion gene | ENST00000464755, ENST00000371321, | ENST00000371321, ENST00000464755, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 10 X 8 X 3=240 |
# samples | 2 | 11 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(11/240*10)=-1.12553088208386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CYP2C19 [Title/Abstract] AND HELLS [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CYP2C19(96466717)-HELLS(96331145), # 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 | CYP2C19 | GO:0016098 | monoterpenoid metabolic process | 16401082 |
Hgene | CYP2C19 | GO:0017144 | drug metabolic process | 19219744|19651758 |
Hgene | CYP2C19 | GO:0042738 | exogenous drug catabolic process | 19029318 |
Hgene | CYP2C19 | GO:0046483 | heterocycle metabolic process | 19651758 |
Hgene | CYP2C19 | GO:0055114 | oxidation-reduction process | 16401082|19219744 |
![]() * 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 | LIHC | TCGA-ZS-A9CF-02A | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
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Fusion Gene ORF analysis for CYP2C19-HELLS |
![]() * 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 |
3UTR-3CDS | ENST00000464755 | ENST00000348459 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
3UTR-3CDS | ENST00000464755 | ENST00000371332 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
3UTR-3CDS | ENST00000464755 | ENST00000394036 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
3UTR-3CDS | ENST00000464755 | ENST00000394045 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
3UTR-3UTR | ENST00000464755 | ENST00000239026 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
3UTR-3UTR | ENST00000464755 | ENST00000394044 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
3UTR-intron | ENST00000464755 | ENST00000462057 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-3CDS | ENST00000371321 | ENST00000348459 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-3CDS | ENST00000371321 | ENST00000371332 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-3CDS | ENST00000371321 | ENST00000394036 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-3CDS | ENST00000371321 | ENST00000394045 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-3UTR | ENST00000371321 | ENST00000239026 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-3UTR | ENST00000371321 | ENST00000394044 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
intron-intron | ENST00000371321 | ENST00000462057 | CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331145 | + |
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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 CYP2C19-HELLS |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331144 | + | 1.88E-08 | 1 |
CYP2C19 | chr10 | 96466717 | + | HELLS | chr10 | 96331144 | + | 1.88E-08 | 1 |
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Fusion Protein Features for CYP2C19-HELLS |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:96466717/:96331145) - 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 |
CYP2C19 | . |
FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 position (PubMed:18577768). Catalyzes the epoxidation of double bonds of PUFA (PubMed:20972997, PubMed:19965576). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol (PubMed:11950794). Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Hydroxylates fenbendazole at the 4' position (PubMed:23959307). {ECO:0000269|PubMed:11950794, ECO:0000269|PubMed:18577768, ECO:0000269|PubMed:19965576, ECO:0000269|PubMed:20972997, ECO:0000269|PubMed:23959307}. | 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 CYP2C19-HELLS |
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Fusion Gene PPI Analysis for CYP2C19-HELLS |
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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 CYP2C19-HELLS |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CYP2C19 | P33261 | DB00951 | Isoniazid | Small molecule | Approved|Investigational |
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Related Diseases for CYP2C19-HELLS |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CYP2C19 | C0041696 | Unipolar Depression | 5 | PSYGENET |
Hgene | CYP2C19 | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
Hgene | CYP2C19 | C0011570 | Mental Depression | 4 | PSYGENET |
Hgene | CYP2C19 | C0011581 | Depressive disorder | 4 | PSYGENET |
Hgene | CYP2C19 | C0019193 | Hepatitis, Toxic | 2 | CTD_human |
Hgene | CYP2C19 | C0860207 | Drug-Induced Liver Disease | 2 | CTD_human |
Hgene | CYP2C19 | C1262760 | Hepatitis, Drug-Induced | 2 | CTD_human |
Hgene | CYP2C19 | C3658290 | Drug-Induced Acute Liver Injury | 2 | CTD_human |
Hgene | CYP2C19 | C4277682 | Chemical and Drug Induced Liver Injury | 2 | CTD_human |
Hgene | CYP2C19 | C4279912 | Chemically-Induced Liver Toxicity | 2 | CTD_human |
Hgene | CYP2C19 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
Hgene | CYP2C19 | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
Hgene | CYP2C19 | C0022660 | Kidney Failure, Acute | 1 | CTD_human |
Hgene | CYP2C19 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Hgene | CYP2C19 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | CYP2C19 | C0040053 | Thrombosis | 1 | CTD_human |
Hgene | CYP2C19 | C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
Hgene | CYP2C19 | C0086367 | Gonadotropin-Resistant Ovary Syndrome | 1 | CTD_human |
Hgene | CYP2C19 | C0087086 | Thrombus | 1 | CTD_human |
Hgene | CYP2C19 | C0235480 | Paroxysmal atrial fibrillation | 1 | CTD_human |
Hgene | CYP2C19 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | CYP2C19 | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human |
Hgene | CYP2C19 | C2585653 | Persistent atrial fibrillation | 1 | CTD_human |
Hgene | CYP2C19 | C2609414 | Acute kidney injury | 1 | CTD_human |
Hgene | CYP2C19 | C3468561 | familial atrial fibrillation | 1 | CTD_human |
Hgene | CYP2C19 | C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | 1 | CTD_human |
Hgene | CYP2C19 | C4552079 | Premature Ovarian Failure 1 | 1 | CTD_human |
Tgene | C4310798 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human | |
Tgene | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human | |
Tgene | C0398788 | Immunodeficiency syndrome, variable | 1 | GENOMICS_ENGLAND | |
Tgene | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |