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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:HTR2C-MRPS30 (FusionGDB2 ID:37901)

Fusion Gene Summary for HTR2C-MRPS30

check button Fusion gene summary
Fusion gene informationFusion gene name: HTR2C-MRPS30
Fusion gene ID: 37901
HgeneTgene
Gene symbol

HTR2C

MRPS30

Gene ID

3358

10884

Gene name5-hydroxytryptamine receptor 2Cmitochondrial ribosomal protein S30
Synonyms5-HT1C|5-HT2C|5-HTR2C|5HTR2C|HTR1CMRP-S30|PAP|PDCD9|S30mt
Cytomap

Xq23

5p12

Type of geneprotein-codingprotein-coding
Description5-hydroxytryptamine receptor 2C5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled5-hydroxytryptamine receptor 1Cserotonin 5-HT-1C receptorserotonin 5-HT-2C receptor39S ribosomal protein S30, mitochondrial28S ribosomal protein S30, mitochondrialmitochondrial large ribosomal subunit protein mL65mitochondrial large ribosomal subunit protein mS30programmed cell death 9
Modification date2020031320200313
UniProtAcc

P28335

Q9NP92

Ensembl transtripts involved in fusion geneENST00000371951, ENST00000276198, 
ENST00000371950, 		ENST00000507110, 
ENST00000230914, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 6 X 3=90
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HTR2C [Title/Abstract] AND MRPS30 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHTR2C(114134710)-MRPS30(44813322), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneHTR2C

GO:0006874

cellular calcium ion homeostasis

19057895

HgeneHTR2C

GO:0007200

phospholipase C-activating G protein-coupled receptor signaling pathway

12970106

HgeneHTR2C

GO:0010513

positive regulation of phosphatidylinositol biosynthetic process

19057895

HgeneHTR2C

GO:0019934

cGMP-mediated signaling

12970106

HgeneHTR2C

GO:0042493

response to drug

18703043

HgeneHTR2C

GO:0070374

positive regulation of ERK1 and ERK2 cascade

19057895


check buttonFusion gene breakpoints across HTR2C (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 MRPS30 (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
ChiTaRS5.0N/AEC574553HTR2CchrX

114134710

-MRPS30chr5

44813322

+


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Fusion Gene ORF analysis for HTR2C-MRPS30

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-3CDSENST00000371951ENST00000507110HTR2CchrX

114134710

-MRPS30chr5

44813322

+
intron-intronENST00000371951ENST00000230914HTR2CchrX

114134710

-MRPS30chr5

44813322

+
intron-3CDSENST00000276198ENST00000507110HTR2CchrX

114134710

-MRPS30chr5

44813322

+
intron-intronENST00000276198ENST00000230914HTR2CchrX

114134710

-MRPS30chr5

44813322

+
intron-3CDSENST00000371950ENST00000507110HTR2CchrX

114134710

-MRPS30chr5

44813322

+
intron-intronENST00000371950ENST00000230914HTR2CchrX

114134710

-MRPS30chr5

44813322

+

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 HTR2C-MRPS30


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 HTR2C-MRPS30


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
HTR2C

P28335

MRPS30

Q9NP92

FUNCTION: G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1-2,5,-dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling activates a phosphatidylinositol-calcium second messenger system that modulates the activity of phosphatidylinositol 3-kinase and down-stream signaling cascades and promotes the release of Ca(2+) ions from intracellular stores. Regulates neuronal activity via the activation of short transient receptor potential calcium channels in the brain, and thereby modulates the activation of pro-opiomelacortin neurons and the release of CRH that then regulates the release of corticosterone. Plays a role in the regulation of appetite and eating behavior, responses to anxiogenic stimuli and stress. Plays a role in insulin sensitivity and glucose homeostasis. {ECO:0000269|PubMed:12970106, ECO:0000269|PubMed:18703043, ECO:0000269|PubMed:19057895, ECO:0000269|PubMed:7895773}.

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 HTR2C-MRPS30


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 HTR2C-MRPS30


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 HTR2C-MRPS30


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHTR2CP28335DB00246ZiprasidoneAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00246ZiprasidoneAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00247MethysergideAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00247MethysergideAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00248CabergolineAgonistSmall moleculeApproved
HgeneHTR2CP28335DB00248CabergolineAgonistSmall moleculeApproved
HgeneHTR2CP28335DB00321AmitriptylineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00321AmitriptylineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00363ClozapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00363ClozapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00370MirtazapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00370MirtazapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00408LoxapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00408LoxapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00434CyproheptadineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00434CyproheptadineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00458ImipramineAntagonist|BinderSmall moleculeApproved
HgeneHTR2CP28335DB00458ImipramineAntagonist|BinderSmall moleculeApproved
HgeneHTR2CP28335DB00502HaloperidolSmall moleculeApproved
HgeneHTR2CP28335DB00502HaloperidolSmall moleculeApproved
HgeneHTR2CP28335DB00540NortriptylineAntagonist|DownregulatorSmall moleculeApproved
HgeneHTR2CP28335DB00540NortriptylineAntagonist|DownregulatorSmall moleculeApproved
HgeneHTR2CP28335DB00543AmoxapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00543AmoxapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00623FluphenazineSmall moleculeApproved
HgeneHTR2CP28335DB00623FluphenazineSmall moleculeApproved
HgeneHTR2CP28335DB00696ErgotamineAgonistSmall moleculeApproved
HgeneHTR2CP28335DB00696ErgotamineAgonistSmall moleculeApproved
HgeneHTR2CP28335DB00726TrimipramineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00726TrimipramineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00777PropiomazineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00777PropiomazineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00805MinaprineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00805MinaprineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00924CyclobenzaprineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00924CyclobenzaprineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB01175EscitalopramInhibitorSmall moleculeApproved
HgeneHTR2CP28335DB01175EscitalopramInhibitorSmall moleculeApproved
HgeneHTR2CP28335DB01224QuetiapineLigandSmall moleculeApproved
HgeneHTR2CP28335DB01224QuetiapineLigandSmall moleculeApproved
HgeneHTR2CP28335DB01267PaliperidoneAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB01267PaliperidoneAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB04871LorcaserinSmall moleculeApproved
HgeneHTR2CP28335DB04871LorcaserinSmall moleculeApproved
HgeneHTR2CP28335DB06153PizotifenAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB06153PizotifenAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB06216AsenapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB06216AsenapineAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB09195LorpiprazoleAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB09195LorpiprazoleAntagonistSmall moleculeApproved
HgeneHTR2CP28335DB00574FenfluramineAgonistSmall moleculeApproved|Illicit|Investigational|Withdrawn
HgeneHTR2CP28335DB00574FenfluramineAgonistSmall moleculeApproved|Illicit|Investigational|Withdrawn
HgeneHTR2CP28335DB01191DexfenfluramineAgonistSmall moleculeApproved|Illicit|Investigational|Withdrawn
HgeneHTR2CP28335DB01191DexfenfluramineAgonistSmall moleculeApproved|Illicit|Investigational|Withdrawn
HgeneHTR2CP28335DB00193TramadolAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00193TramadolAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00334OlanzapineAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00334OlanzapineAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00589LisurideAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00589LisurideAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00656TrazodoneAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00656TrazodoneAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00714ApomorphineAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00714ApomorphineAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00734RisperidoneAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00734RisperidoneAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00934MaprotilineBinderSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00934MaprotilineBinderSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01142DoxepinAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01142DoxepinAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01151DesipramineBinderSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01151DesipramineBinderSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01200BromocriptineAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01200BromocriptineAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01238AripiprazoleAntagonist|Partial agonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01238AripiprazoleAntagonist|Partial agonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01403MethotrimeprazineAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB01403MethotrimeprazineAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB04948LofexidineAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB04948LofexidineAgonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB06148MianserinAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB06148MianserinAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB06594AgomelatineAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB06594AgomelatineAntagonistSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB14185Aripiprazole lauroxilSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB14185Aripiprazole lauroxilSmall moleculeApproved|Investigational
HgeneHTR2CP28335DB00477ChlorpromazineBinderSmall moleculeApproved|Investigational|Vet_approved
HgeneHTR2CP28335DB00477ChlorpromazineBinderSmall moleculeApproved|Investigational|Vet_approved
HgeneHTR2CP28335DB01242ClomipramineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneHTR2CP28335DB01242ClomipramineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneHTR2CP28335DB01392YohimbineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneHTR2CP28335DB01392YohimbineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneHTR2CP28335DB01186PergolideAgonistSmall moleculeApproved|Investigational|Vet_approved|Withdrawn
HgeneHTR2CP28335DB01186PergolideAgonistSmall moleculeApproved|Investigational|Vet_approved|Withdrawn
HgeneHTR2CP28335DB01079TegaserodAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneHTR2CP28335DB01079TegaserodAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneHTR2CP28335DB06144SertindoleAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneHTR2CP28335DB06144SertindoleAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneHTR2CP28335DB00420PromazineAntagonistSmall moleculeApproved|Vet_approved
HgeneHTR2CP28335DB00420PromazineAntagonistSmall moleculeApproved|Vet_approved
HgeneHTR2CP28335DB00472FluoxetineAntagonistSmall moleculeApproved|Vet_approved
HgeneHTR2CP28335DB00472FluoxetineAntagonistSmall moleculeApproved|Vet_approved
HgeneHTR2CP28335DB01149NefazodoneAntagonistSmall moleculeApproved|Withdrawn
HgeneHTR2CP28335DB01149NefazodoneAntagonistSmall moleculeApproved|Withdrawn

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Related Diseases for HTR2C-MRPS30


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHTR2CC0001973Alcoholic Intoxication, Chronic5PSYGENET
HgeneHTR2CC0005586Bipolar Disorder5PSYGENET
HgeneHTR2CC0011570Mental Depression5PSYGENET
HgeneHTR2CC0011581Depressive disorder5PSYGENET
HgeneHTR2CC0041696Unipolar Depression5PSYGENET
HgeneHTR2CC0525045Mood Disorders5PSYGENET
HgeneHTR2CC1269683Major Depressive Disorder5PSYGENET
HgeneHTR2CC0036341Schizophrenia4PSYGENET
HgeneHTR2CC0524620Metabolic Syndrome X3CTD_human
HgeneHTR2CC0028754Obesity2CTD_human
HgeneHTR2CC0043094Weight Gain2CTD_human
HgeneHTR2CC0085159Seasonal Affective Disorder2PSYGENET
HgeneHTR2CC0009171Cocaine Abuse1PSYGENET
HgeneHTR2CC0027796Neuralgia1CTD_human
HgeneHTR2CC0038587Substance Withdrawal Syndrome1CTD_human
HgeneHTR2CC0038870Neuralgia, Supraorbital1CTD_human
HgeneHTR2CC0042656Neuralgia, Vidian1CTD_human
HgeneHTR2CC0086189Drug Withdrawal Symptoms1CTD_human
HgeneHTR2CC0087169Withdrawal Symptoms1CTD_human
HgeneHTR2CC0234247Neuralgia, Atypical1CTD_human
HgeneHTR2CC0234249Neuralgia, Stump1CTD_human
HgeneHTR2CC0423711Neuralgia, Perineal1CTD_human
HgeneHTR2CC0423712Neuralgia, Iliohypogastric Nerve1CTD_human
HgeneHTR2CC0751217Hyperkinesia, Generalized1CTD_human
HgeneHTR2CC0751371Neuralgia, Ilioinguinal1CTD_human
HgeneHTR2CC0751372Nerve Pain1CTD_human
HgeneHTR2CC0751373Paroxysmal Nerve Pain1CTD_human
HgeneHTR2CC3887506Hyperkinesia1CTD_human