FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:RAPGEF5-NPY (FusionGDB2 ID:71792)

Fusion Gene Summary for RAPGEF5-NPY

check button Fusion gene summary
Fusion gene informationFusion gene name: RAPGEF5-NPY
Fusion gene ID: 71792
HgeneTgene
Gene symbol

RAPGEF5

NPY

Gene ID

9771

4852

Gene nameRap guanine nucleotide exchange factor 5neuropeptide Y
SynonymsGFR|MR-GEF|REPACPYY4
Cytomap

7p15.3

7p15.3

Type of geneprotein-codingprotein-coding
Descriptionrap guanine nucleotide exchange factor 5M-Ras-regulated GEFM-Ras-regulated Rap GEFRap guanine nucleotide exchange factor (GEF) 5guanine nucleotide exchange factor for Rap1related to Epacpro-neuropeptide Yprepro-neuropeptide Y
Modification date2020031320200313
UniProtAcc.

Q99463

Ensembl transtripts involved in fusion geneENST00000344041, ENST00000475788, 
ENST00000405243, ENST00000401957, 
ENST00000242152, ENST00000407573, 
ENST00000405982, 
Fusion gene scores* DoF score16 X 14 X 10=22406 X 8 X 4=192
# samples 217
** MAII scorelog2(21/2240*10)=-3.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/192*10)=-1.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAPGEF5 [Title/Abstract] AND NPY [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAPGEF5(22165222)-NPY(24329118), # samples:2
Anticipated loss of major functional domain due to fusion event.RAPGEF5-NPY seems lost the major protein functional domain in Hgene partner, which is a essential gene 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 RAPGEF5 (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 NPY (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
ChimerDB4BRCATCGA-A2-A0CW-01ARAPGEF5chr7

22165222

-NPYchr7

24329118

+
ChimerDB4BRCATCGA-A2-A0CW-01ARAPGEF5chr7

22165222

-NPYchr7

24329118

+


Top

Fusion Gene ORF analysis for RAPGEF5-NPY

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
Frame-shiftENST00000344041ENST00000242152RAPGEF5chr7

22165222

-NPYchr7

24329118

+
Frame-shiftENST00000344041ENST00000407573RAPGEF5chr7

22165222

-NPYchr7

24329118

+
Frame-shiftENST00000344041ENST00000405982RAPGEF5chr7

22165222

-NPYchr7

24329118

+
intron-3CDSENST00000475788ENST00000242152RAPGEF5chr7

22165222

-NPYchr7

24329118

+
intron-3CDSENST00000475788ENST00000407573RAPGEF5chr7

22165222

-NPYchr7

24329118

+
intron-3CDSENST00000475788ENST00000405982RAPGEF5chr7

22165222

-NPYchr7

24329118

+
intron-3CDSENST00000405243ENST00000242152RAPGEF5chr7

22165222

-NPYchr7

24329118

+
intron-3CDSENST00000405243ENST00000407573RAPGEF5chr7

22165222

-NPYchr7

24329118

+
intron-3CDSENST00000405243ENST00000405982RAPGEF5chr7

22165222

-NPYchr7

24329118

+
Frame-shiftENST00000401957ENST00000242152RAPGEF5chr7

22165222

-NPYchr7

24329118

+
Frame-shiftENST00000401957ENST00000407573RAPGEF5chr7

22165222

-NPYchr7

24329118

+
Frame-shiftENST00000401957ENST00000405982RAPGEF5chr7

22165222

-NPYchr7

24329118

+

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

Top

Fusion Genomic Features for RAPGEF5-NPY


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)
RAPGEF5chr722165221-NPYchr724329117+2.32E-050.9999769
RAPGEF5chr722165221-NPYchr724329117+2.32E-050.9999769

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.

Top

Fusion Protein Features for RAPGEF5-NPY


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
.NPY

Q99463

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: When expressed, is unable to bind pancreatic polypeptide (PP), neuropeptide Y (NPY), or peptide YY (PYY), suggesting that either it is functionally inactive or that it may have acquired a pancreatic polypeptide-independent function. {ECO:0000269|PubMed:8910290, ECO:0000269|PubMed:8910373}.

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


Top

Fusion Gene Sequence for RAPGEF5-NPY


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.

Top

Fusion Gene PPI Analysis for RAPGEF5-NPY


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


Top

Related Drugs for RAPGEF5-NPY


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

Top

Related Diseases for RAPGEF5-NPY


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAPGEF5C0005586Bipolar Disorder1PSYGENET
HgeneRAPGEF5C0041696Unipolar Depression1PSYGENET
HgeneRAPGEF5C0236733Amphetamine-Related Disorders1CTD_human
HgeneRAPGEF5C0236804Amphetamine Addiction1CTD_human
HgeneRAPGEF5C0236807Amphetamine Abuse1CTD_human
HgeneRAPGEF5C1269683Major Depressive Disorder1PSYGENET
TgeneNPYC0011581Depressive disorder7CTD_human;PSYGENET
TgeneNPYC0041696Unipolar Depression7CTD_human;PSYGENET
TgeneNPYC0001973Alcoholic Intoxication, Chronic6CTD_human;PSYGENET
TgeneNPYC0011570Mental Depression5PSYGENET
TgeneNPYC0525045Mood Disorders5PSYGENET
TgeneNPYC1269683Major Depressive Disorder5PSYGENET
TgeneNPYC0003123Anorexia3CTD_human
TgeneNPYC0022333Jacksonian Seizure3CTD_human
TgeneNPYC0036572Seizures3CTD_human
TgeneNPYC0085762Alcohol abuse3CTD_human;PSYGENET
TgeneNPYC0149958Complex partial seizures3CTD_human
TgeneNPYC0234533Generalized seizures3CTD_human
TgeneNPYC0234535Clonic Seizures3CTD_human
TgeneNPYC0270824Visual seizure3CTD_human
TgeneNPYC0270844Tonic Seizures3CTD_human
TgeneNPYC0270846Epileptic drop attack3CTD_human
TgeneNPYC0422850Seizures, Somatosensory3CTD_human
TgeneNPYC0422852Seizures, Auditory3CTD_human
TgeneNPYC0422853Olfactory seizure3CTD_human
TgeneNPYC0422854Gustatory seizure3CTD_human
TgeneNPYC0422855Vertiginous seizure3CTD_human
TgeneNPYC0494475Tonic - clonic seizures3CTD_human
TgeneNPYC0751056Non-epileptic convulsion3CTD_human
TgeneNPYC0751110Single Seizure3CTD_human
TgeneNPYC0751123Atonic Absence Seizures3CTD_human
TgeneNPYC0751494Convulsive Seizures3CTD_human
TgeneNPYC0751495Seizures, Focal3CTD_human
TgeneNPYC0751496Seizures, Sensory3CTD_human
TgeneNPYC3495874Nonepileptic Seizures3CTD_human
TgeneNPYC4048158Convulsions3CTD_human
TgeneNPYC4316903Absence Seizures3CTD_human
TgeneNPYC4317109Epileptic Seizures3CTD_human
TgeneNPYC4317123Myoclonic Seizures3CTD_human
TgeneNPYC4505436Generalized Absence Seizures3CTD_human
TgeneNPYC0011573Endogenous depression2CTD_human
TgeneNPYC0014544Epilepsy2CTD_human
TgeneNPYC0025193Melancholia2CTD_human
TgeneNPYC0036341Schizophrenia2PSYGENET
TgeneNPYC0086133Depressive Syndrome2CTD_human
TgeneNPYC0086237Epilepsy, Cryptogenic2CTD_human
TgeneNPYC0236018Aura2CTD_human
TgeneNPYC0282126Depression, Neurotic2CTD_human
TgeneNPYC0600427Cocaine Dependence2CTD_human;PSYGENET
TgeneNPYC0751111Awakening Epilepsy2CTD_human
TgeneNPYC0001956Alcohol Use Disorder1CTD_human
TgeneNPYC0002395Alzheimer's Disease1CTD_human
TgeneNPYC0003469Anxiety Disorders1CTD_human
TgeneNPYC0004096Asthma1CTD_human
TgeneNPYC0007222Cardiovascular Diseases1CTD_human
TgeneNPYC0007785Cerebral Infarction1CTD_human
TgeneNPYC0008677Bronchitis, Chronic1CTD_human
TgeneNPYC0009171Cocaine Abuse1CTD_human
TgeneNPYC0011265Presenile dementia1CTD_human
TgeneNPYC0013146Drug abuse1CTD_human
TgeneNPYC0013170Drug habituation1CTD_human
TgeneNPYC0013222Drug Use Disorders1CTD_human
TgeneNPYC0014556Epilepsy, Temporal Lobe1CTD_human
TgeneNPYC0014558Uncinate Epilepsy1CTD_human
TgeneNPYC0020564Hypertrophy1CTD_human
TgeneNPYC0025261Memory Disorders1CTD_human
TgeneNPYC0026837Muscle Rigidity1CTD_human
TgeneNPYC0027429Nasal obstruction present finding1CTD_human
TgeneNPYC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneNPYC0035455Rhinitis1CTD_human
TgeneNPYC0036337Schizoaffective Disorder1PSYGENET
TgeneNPYC0038580Substance Dependence1CTD_human
TgeneNPYC0038586Substance Use Disorders1CTD_human
TgeneNPYC0038587Substance Withdrawal Syndrome1CTD_human
TgeneNPYC0085159Seasonal Affective Disorder1PSYGENET
TgeneNPYC0086189Drug Withdrawal Symptoms1CTD_human
TgeneNPYC0087169Withdrawal Symptoms1CTD_human
TgeneNPYC0151564Cogwheel Rigidity1CTD_human
TgeneNPYC0231519Gegenhalten1CTD_human
TgeneNPYC0233608Catatonic Rigidity1CTD_human
TgeneNPYC0233794Memory impairment1CTD_human
TgeneNPYC0236664Alcohol-Related Disorders1PSYGENET
TgeneNPYC0236736Cocaine-Related Disorders1CTD_human
TgeneNPYC0236969Substance-Related Disorders1CTD_human
TgeneNPYC0239325Extensor Rigidity1CTD_human
TgeneNPYC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneNPYC0277821Extrapyramidal Rigidity1CTD_human
TgeneNPYC0376280Anxiety States, Neurotic1CTD_human
TgeneNPYC0393672Epilepsy, Benign Psychomotor, Childhood1CTD_human
TgeneNPYC0393682Epilepsy, Lateral Temporal1CTD_human
TgeneNPYC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneNPYC0546126Acute Confusional Senile Dementia1CTD_human
TgeneNPYC0740858Substance abuse problem1CTD_human
TgeneNPYC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneNPYC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneNPYC0751010Cerebral Infarction, Left Hemisphere1CTD_human
TgeneNPYC0751011Cerebral Infarction, Right Hemisphere1CTD_human
TgeneNPYC0751012Anterior Choroidal Artery Infarction1CTD_human
TgeneNPYC0751014Subcortical Infarction1CTD_human
TgeneNPYC0751217Hyperkinesia, Generalized1CTD_human
TgeneNPYC0751292Age-Related Memory Disorders1CTD_human
TgeneNPYC0751293Memory Disorder, Semantic1CTD_human
TgeneNPYC0751294Memory Disorder, Spatial1CTD_human
TgeneNPYC0751295Memory Loss1CTD_human
TgeneNPYC0887799Posterior Choroidal Artery Infarction1CTD_human
TgeneNPYC1262477Weight decreased1CTD_human
TgeneNPYC1279420Anxiety neurosis (finding)1CTD_human
TgeneNPYC1320474Nuchal Rigidity1CTD_human
TgeneNPYC1510472Drug Dependence1CTD_human
TgeneNPYC2350170Unilateral Nasal Obstruction1CTD_human
TgeneNPYC2350171Bilateral Nasal Obstruction1CTD_human
TgeneNPYC2362914clinical depression1PSYGENET
TgeneNPYC3887506Hyperkinesia1CTD_human
TgeneNPYC4316881Prescription Drug Abuse1CTD_human
TgeneNPYC4721453Peripheral Nervous System Diseases1CTD_human