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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:TCF20-CYP2D6 (FusionGDB2 ID:89116)

Fusion Gene Summary for TCF20-CYP2D6

check button Fusion gene summary
Fusion gene informationFusion gene name: TCF20-CYP2D6
Fusion gene ID: 89116
HgeneTgene
Gene symbol

TCF20

CYP2D6

Gene ID

6942

107987479

Gene nametranscription factor 20cytochrome P450 2D6
SynonymsAR1|DDVIBA|SPBP|TCF-20CYP2D6
Cytomap

22q13.2|22q13.3

-

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor 20SPRE-binding proteinnuclear factor SPBPstromelysin-1 PDGF-responsive element-binding proteinstromelysin-1 platelet-derived growth factor-responsive element binding proteincytochrome P450 2D6cytochrome P4502D6
Modification date2020031320200303
UniProtAcc.

P10635

Ensembl transtripts involved in fusion geneENST00000359486, ENST00000335626, 
ENST00000404876, 		ENST00000360608, 
ENST00000389970, ENST00000359033, 
Fusion gene scores* DoF score14 X 8 X 8=8961 X 2 X 2=4
# samples 152
** MAII scorelog2(15/896*10)=-2.57853623156172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: TCF20 [Title/Abstract] AND CYP2D6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTCF20(42739485)-CYP2D6(42524946), # samples:2
Anticipated loss of major functional domain due to fusion event.TCF20-CYP2D6 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
TCF20-CYP2D6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TCF20-CYP2D6 seems lost the major protein functional domain in Tgene 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

check buttonFusion gene breakpoints across TCF20 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CYP2D6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4STADTCGA-VQ-AA69-01ATCF20chr22

42739485

-CYP2D6chr22

42524946

-
ChimerDB4LUSCTCGA-58-8387TCF20chr22

42605656

-CYP2D6chr22

42524946

-
ChimerDB4STADTCGA-VQ-AA69-01ATCF20chr22

42739485

-CYP2D6chr22

42524946

-
ChimerDB4STADTCGA-VQ-AA69-01ATCF20chr22

42739485

-CYP2D6chr22

42538640

-


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Fusion Gene ORF analysis for TCF20-CYP2D6

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
intron-3CDSENST00000359486ENST00000360608TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000359486ENST00000389970TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000359486ENST00000359033TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000335626ENST00000360608TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000335626ENST00000389970TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000335626ENST00000359033TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000404876ENST00000360608TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000404876ENST00000389970TCF20chr22

42739485

-CYP2D6chr22

42524946

-
intron-3CDSENST00000404876ENST00000359033TCF20chr22

42739485

-CYP2D6chr22

42524946

-
Frame-shiftENST00000359486ENST00000360608TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000359486ENST00000389970TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000359486ENST00000359033TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000335626ENST00000360608TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000335626ENST00000389970TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000335626ENST00000359033TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000404876ENST00000360608TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000404876ENST00000389970TCF20chr22

42605656

-CYP2D6chr22

42524946

-
Frame-shiftENST00000404876ENST00000359033TCF20chr22

42605656

-CYP2D6chr22

42524946

-
intron-intronENST00000359486ENST00000360608TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000359486ENST00000389970TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000359486ENST00000359033TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000335626ENST00000360608TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000335626ENST00000389970TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000335626ENST00000359033TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000404876ENST00000360608TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000404876ENST00000389970TCF20chr22

42739485

-CYP2D6chr22

42538640

-
intron-intronENST00000404876ENST00000359033TCF20chr22

42739485

-CYP2D6chr22

42538640

-

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 TCF20-CYP2D6


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for TCF20-CYP2D6


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CYP2D6

P10635

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). 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:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:19965576, PubMed:20972997). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:18698000, PubMed:21289075). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Catalyzes the oxidative transformations of all-trans retinol to all-trans retinal, a precursor for the active form all-trans-retinoic acid (PubMed:10681376). Also involved in the oxidative metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants. {ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:16352597, ECO:0000269|PubMed:18698000, ECO:0000269|PubMed:19965576, ECO:0000269|PubMed:20972997, ECO:0000269|PubMed:21289075, ECO:0000269|PubMed:21576599}.

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 TCF20-CYP2D6


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 TCF20-CYP2D6


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 TCF20-CYP2D6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCYP2D6P10635DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational
TgeneCYP2D6P10635DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational
TgeneCYP2D6P10635DB11994DiacereinInhibitorSmall moleculeApproved|Investigational
TgeneCYP2D6P10635DB11994DiacereinInhibitorSmall moleculeApproved|Investigational

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Related Diseases for TCF20-CYP2D6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTCF20C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneTCF20C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneTCF20C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneTCF20C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneCYP2D6C0011570Mental Depression5PSYGENET
TgeneCYP2D6C0011581Depressive disorder5PSYGENET
TgeneCYP2D6C0036341Schizophrenia5PSYGENET
TgeneCYP2D6C0041696Unipolar Depression5PSYGENET
TgeneCYP2D6C1269683Major Depressive Disorder5PSYGENET
TgeneCYP2D6C0016722Frigidity2CTD_human
TgeneCYP2D6C0020594Hypoactive Sexual Desire Disorder2CTD_human
TgeneCYP2D6C0029261Orgasmic Disorder2CTD_human
TgeneCYP2D6C0030567Parkinson Disease2CTD_human
TgeneCYP2D6C0033953Psychosexual Disorders2CTD_human
TgeneCYP2D6C0036902Sexual Arousal Disorder2CTD_human
TgeneCYP2D6C0002395Alzheimer's Disease1CTD_human
TgeneCYP2D6C0004782Basal Ganglia Diseases1CTD_human
TgeneCYP2D6C0006142Malignant neoplasm of breast1CTD_human
TgeneCYP2D6C0009421Comatose1CTD_human
TgeneCYP2D6C0011265Presenile dementia1CTD_human
TgeneCYP2D6C0013146Drug abuse1CTD_human
TgeneCYP2D6C0013170Drug habituation1CTD_human
TgeneCYP2D6C0013221Drug toxicity1CTD_human
TgeneCYP2D6C0013222Drug Use Disorders1CTD_human
TgeneCYP2D6C0013421Dystonia1CTD_human
TgeneCYP2D6C0014549Tonic-Clonic Epilepsy1CTD_human
TgeneCYP2D6C0015371Extrapyramidal Disorders1CTD_human
TgeneCYP2D6C0022660Kidney Failure, Acute1CTD_human
TgeneCYP2D6C0026837Muscle Rigidity1CTD_human
TgeneCYP2D6C0027707Nephritis, Interstitial1CTD_human
TgeneCYP2D6C0028797Occupational Diseases1CTD_human
TgeneCYP2D6C0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneCYP2D6C0033054Prenatal Exposure Delayed Effects1CTD_human
TgeneCYP2D6C0038580Substance Dependence1CTD_human
TgeneCYP2D6C0038586Substance Use Disorders1CTD_human
TgeneCYP2D6C0040822Tremor1CTD_human
TgeneCYP2D6C0040827Saturnine Tremor1CTD_human
TgeneCYP2D6C0041349Nephritis, Tubulointerstitial1CTD_human
TgeneCYP2D6C0041755Adverse reaction to drug1CTD_human
TgeneCYP2D6C0043094Weight Gain1CTD_human
TgeneCYP2D6C0149840Senile Tremor1CTD_human
TgeneCYP2D6C0151564Cogwheel Rigidity1CTD_human
TgeneCYP2D6C0231519Gegenhalten1CTD_human
TgeneCYP2D6C0233608Catatonic Rigidity1CTD_human
TgeneCYP2D6C0234370Persistent Tremor1CTD_human
TgeneCYP2D6C0234371Continuous Tremor1CTD_human
TgeneCYP2D6C0234372Intermittent Tremor1CTD_human
TgeneCYP2D6C0234373Fine Tremor1CTD_human
TgeneCYP2D6C0234374Coarse Tremor1CTD_human
TgeneCYP2D6C0234375Massive Tremor1CTD_human
TgeneCYP2D6C0234376Action Tremor1CTD_human
TgeneCYP2D6C0234377Passive Tremor1CTD_human
TgeneCYP2D6C0234378Static Tremor1CTD_human
TgeneCYP2D6C0234379Resting Tremor1CTD_human
TgeneCYP2D6C0234381Darkness Tremor1CTD_human
TgeneCYP2D6C0235078Tremor, Perioral1CTD_human
TgeneCYP2D6C0235081Tremor, Limb1CTD_human
TgeneCYP2D6C0235082Tremor, Muscle1CTD_human
TgeneCYP2D6C0235083Nerve Tremors1CTD_human
TgeneCYP2D6C0235843Tremor, Neonatal1CTD_human
TgeneCYP2D6C0236733Amphetamine-Related Disorders1CTD_human
TgeneCYP2D6C0236804Amphetamine Addiction1CTD_human
TgeneCYP2D6C0236807Amphetamine Abuse1CTD_human
TgeneCYP2D6C0236969Substance-Related Disorders1CTD_human
TgeneCYP2D6C0239325Extensor Rigidity1CTD_human
TgeneCYP2D6C0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneCYP2D6C0277821Extrapyramidal Rigidity1CTD_human
TgeneCYP2D6C0393588Dystonia, Paroxysmal1CTD_human
TgeneCYP2D6C0393610Dystonia, Diurnal1CTD_human
TgeneCYP2D6C0428977Bradycardia1CTD_human
TgeneCYP2D6C0494463Alzheimer Disease, Late Onset1CTD_human
TgeneCYP2D6C0525045Mood Disorders1PSYGENET
TgeneCYP2D6C0546126Acute Confusional Senile Dementia1CTD_human
TgeneCYP2D6C0677050Manganese Poisoning1CTD_human
TgeneCYP2D6C0678222Breast Carcinoma1CTD_human
TgeneCYP2D6C0740858Substance abuse problem1CTD_human
TgeneCYP2D6C0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneCYP2D6C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneCYP2D6C0750951Lenticulostriate Disorders1CTD_human
TgeneCYP2D6C0751093Dystonia, Limb1CTD_human
TgeneCYP2D6C0751117Cryptogenic Tonic-Clonic Epilepsy1CTD_human
TgeneCYP2D6C0751118Epilepsy, Tonic-Clonic, Familial1CTD_human
TgeneCYP2D6C0751119Epilepsy, Tonic-Clonic, Symptomatic1CTD_human
TgeneCYP2D6C0751564Pill Rolling Tremor1CTD_human
TgeneCYP2D6C0751565Tremor, Semirhythmic1CTD_human
TgeneCYP2D6C0809983Schizophrenia and related disorders1PSYGENET
TgeneCYP2D6C0860634Psychogenic coma1CTD_human
TgeneCYP2D6C1257931Mammary Neoplasms, Human1CTD_human
TgeneCYP2D6C1320474Nuchal Rigidity1CTD_human
TgeneCYP2D6C1458155Mammary Neoplasms1CTD_human
TgeneCYP2D6C1510472Drug Dependence1CTD_human
TgeneCYP2D6C1527384Involuntary Quiver1CTD_human
TgeneCYP2D6C1565662Acute Kidney Insufficiency1CTD_human
TgeneCYP2D6C2609414Acute kidney injury1CTD_human
TgeneCYP2D6C4316881Prescription Drug Abuse1CTD_human
TgeneCYP2D6C4704874Mammary Carcinoma, Human1CTD_human