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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CYP2C19-TBC1D12 (FusionGDB2 ID:HG1557TG23232)

Fusion Gene Summary for CYP2C19-TBC1D12

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP2C19-TBC1D12
Fusion gene ID: hg1557tg23232
HgeneTgene
Gene symbol

CYP2C19

TBC1D12

Gene ID

1557

23232

Gene namecytochrome P450 family 2 subfamily C member 19TBC1 domain family member 12
SynonymsCPCJ|CYP2C|CYPIIC17|CYPIIC19|P450C2C|P450IIC19-
Cytomap('CYP2C19')('TBC1D12')

10q23.33

10q23.33

Type of geneprotein-codingprotein-coding
Descriptioncytochrome 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 (mephenytoiTBC1 domain family member 12
Modification date2020031320200313
UniProtAcc

P33261

.
Ensembl transtripts involved in fusion geneENST00000464755, ENST00000371321, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 6 X 4=144
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP2C19 [Title/Abstract] AND TBC1D12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP2C19(96541754)-TBC1D12(96290959), # samples:2
Anticipated loss of major functional domain due to fusion event.CYP2C19-TBC1D12 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCYP2C19

GO:0016098

monoterpenoid metabolic process

16401082

HgeneCYP2C19

GO:0017144

drug metabolic process

19219744|19651758

HgeneCYP2C19

GO:0042738

exogenous drug catabolic process

19029318

HgeneCYP2C19

GO:0046483

heterocycle metabolic process

19651758

HgeneCYP2C19

GO:0055114

oxidation-reduction process

16401082|19219744



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-DD-AAVR-01ACYP2C19chr10

96541754

-TBC1D12chr10

96290959

+
ChimerDB4LIHCTCGA-DD-AAVR-01ACYP2C19chr10

96541754

+TBC1D12chr10

96290959

+


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Fusion Gene ORF analysis for CYP2C19-TBC1D12

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000464755ENST00000225235CYP2C19chr10

96541754

+TBC1D12chr10

96290959

+
3UTR-3UTRENST00000464755ENST00000485048CYP2C19chr10

96541754

+TBC1D12chr10

96290959

+
5CDS-3UTRENST00000371321ENST00000485048CYP2C19chr10

96541754

+TBC1D12chr10

96290959

+
Frame-shiftENST00000371321ENST00000225235CYP2C19chr10

96541754

+TBC1D12chr10

96290959

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CYP2C19-TBC1D12


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CYP2C19chr1096541754+TBC1D12chr1096290958+2.01E-050.99998
CYP2C19chr1096541754+TBC1D12chr1096290958+2.01E-050.99998


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for CYP2C19-TBC1D12


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:96541754/:96290959)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CYP2C19

P33261

.
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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for CYP2C19-TBC1D12


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CYP2C19-TBC1D12


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CYP2C19-TBC1D12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCYP2C19P33261DB00951IsoniazidSmall moleculeApproved|Investigational

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Related Diseases for CYP2C19-TBC1D12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP2C19C0041696Unipolar Depression5PSYGENET
HgeneCYP2C19C1269683Major Depressive Disorder5PSYGENET
HgeneCYP2C19C0011570Mental Depression4PSYGENET
HgeneCYP2C19C0011581Depressive disorder4PSYGENET
HgeneCYP2C19C0019193Hepatitis, Toxic2CTD_human
HgeneCYP2C19C0860207Drug-Induced Liver Disease2CTD_human
HgeneCYP2C19C1262760Hepatitis, Drug-Induced2CTD_human
HgeneCYP2C19C3658290Drug-Induced Acute Liver Injury2CTD_human
HgeneCYP2C19C4277682Chemical and Drug Induced Liver Injury2CTD_human
HgeneCYP2C19C4279912Chemically-Induced Liver Toxicity2CTD_human
HgeneCYP2C19C0004238Atrial Fibrillation1CTD_human
HgeneCYP2C19C0007222Cardiovascular Diseases1CTD_human
HgeneCYP2C19C0022660Kidney Failure, Acute1CTD_human
HgeneCYP2C19C0022661Kidney Failure, Chronic1CTD_human
HgeneCYP2C19C0033578Prostatic Neoplasms1CTD_human
HgeneCYP2C19C0040053Thrombosis1CTD_human
HgeneCYP2C19C0085215Ovarian Failure, Premature1CTD_human
HgeneCYP2C19C0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
HgeneCYP2C19C0087086Thrombus1CTD_human
HgeneCYP2C19C0235480Paroxysmal atrial fibrillation1CTD_human
HgeneCYP2C19C0376358Malignant neoplasm of prostate1CTD_human
HgeneCYP2C19C1565662Acute Kidney Insufficiency1CTD_human
HgeneCYP2C19C2585653Persistent atrial fibrillation1CTD_human
HgeneCYP2C19C2609414Acute kidney injury1CTD_human
HgeneCYP2C19C3468561familial atrial fibrillation1CTD_human
HgeneCYP2C19C3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
HgeneCYP2C19C4552079Premature Ovarian Failure 11CTD_human