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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28013

FusionGeneSummary for POMC_RPL14

check button Fusion gene summary
Fusion gene informationFusion gene name: POMC_RPL14
Fusion gene ID: 28013
HgeneTgene
Gene symbol

POMC

RPL14

Gene ID

5443

9045

Gene nameproopiomelanocortinribosomal protein L14
SynonymsACTH|CLIP|LPH|MSH|NPP|OBAIRH|POCCAG-ISL-7|CTG-B33|L14|RL14|hRL14
Cytomap

2p23.3

3p22.1

Type of geneprotein-codingprotein-coding
Descriptionpro-opiomelanocortinadrenocorticotropic hormoneadrenocorticotropinalpha-MSHalpha-melanocyte-stimulating hormonebeta-LPHbeta-MSHbeta-endorphinbeta-melanocyte-stimulating hormonecorticotropin-like intermediary peptidecorticotropin-lipotropingamma60S ribosomal protein L14large ribosomal subunit protein eL14
Modification date2018052320180523
UniProtAcc

P01189

P50914

Ensembl transtripts involved in fusion geneENST00000380794, ENST00000405623, 
ENST00000264708, ENST00000395826, 
ENST00000338970, ENST00000396203, 
ENST00000416518, ENST00000461368, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 8 X 4=192
# samples 211
** MAII scorelog2(2/4*10)=2.32192809488736log2(11/192*10)=-0.803602787196497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POMC [Title/Abstract] AND RPL14 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgenePOMC

GO:0032720

negative regulation of tumor necrosis factor production

10233018

HgenePOMC

GO:0045944

positive regulation of transcription by RNA polymerase II

18292087


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CD251046POMCchr2

25387510

-RPL14chr3

40503530

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shiftENST00000380794ENST00000338970POMCchr2

25387510

-RPL14chr3

40503530

+
In-frameENST00000380794ENST00000396203POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-3UTRENST00000380794ENST00000416518POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-intronENST00000380794ENST00000461368POMCchr2

25387510

-RPL14chr3

40503530

+
In-frameENST00000405623ENST00000338970POMCchr2

25387510

-RPL14chr3

40503530

+
Frame-shiftENST00000405623ENST00000396203POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-3UTRENST00000405623ENST00000416518POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-intronENST00000405623ENST00000461368POMCchr2

25387510

-RPL14chr3

40503530

+
Frame-shiftENST00000264708ENST00000338970POMCchr2

25387510

-RPL14chr3

40503530

+
In-frameENST00000264708ENST00000396203POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-3UTRENST00000264708ENST00000416518POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-intronENST00000264708ENST00000461368POMCchr2

25387510

-RPL14chr3

40503530

+
In-frameENST00000395826ENST00000338970POMCchr2

25387510

-RPL14chr3

40503530

+
Frame-shiftENST00000395826ENST00000396203POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-3UTRENST00000395826ENST00000416518POMCchr2

25387510

-RPL14chr3

40503530

+
5CDS-intronENST00000395826ENST00000461368POMCchr2

25387510

-RPL14chr3

40503530

+

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FusionProtFeatures for POMC_RPL14


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

P01189

RPL14

P50914

Corticotropin: Stimulates the adrenal glands to releasecortisol. Melanocyte-stimulating hormone alpha: Anorexigenicpeptide. Increases the pigmentation of skin by increasing melaninproduction in melanocytes. Melanocyte-stimulating hormone beta: Increases thepigmentation of skin by increasing melanin production inmelanocytes. Beta-endorphin: Endogenous orexigenic opiate. Met-enkephalin: Endogenous opiate.

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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FusionGeneSequence for POMC_RPL14


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_POMC_ENST00000380794_chr2_25387510_-_RPL14_ENST00000396203_chr3_40503530_+_44aa

>In-frame_POMC_ENST00000405623_chr2_25387510_-_RPL14_ENST00000338970_chr3_40503530_+_44aa

>In-frame_POMC_ENST00000264708_chr2_25387510_-_RPL14_ENST00000396203_chr3_40503530_+_44aa

>In-frame_POMC_ENST00000395826_chr2_25387510_-_RPL14_ENST00000338970_chr3_40503530_+_44aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_POMC_ENST00000380794_chr2_25387510_-_RPL14_ENST00000396203_chr3_40503530_+_132nt
ATGCCGAGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGCCTGGAG

>In-frame_POMC_ENST00000405623_chr2_25387510_-_RPL14_ENST00000338970_chr3_40503530_+_132nt
ATGCCGAGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGCCTGGAG

>In-frame_POMC_ENST00000264708_chr2_25387510_-_RPL14_ENST00000396203_chr3_40503530_+_132nt
ATGCCGAGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGCCTGGAG

>In-frame_POMC_ENST00000395826_chr2_25387510_-_RPL14_ENST00000338970_chr3_40503530_+_132nt
ATGCCGAGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGCCTGGAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_POMC_ENST00000380794_chr2_25387510_-_RPL14_ENST00000396203_chr3_40503530_+_395nt
CCTTCCCCTGGCCCGGGGAGCTGCTCCTTGTGCTGCCGGGAAGGTCAAAGTCCCGCGCCCACCAGGAGAGCTCGGCAAGTATATAAGGAC
AGAGGAGCGCGGGACCAAGCGGCGGCGAAGGAGGGGAAGAAGAGCCGCGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAG
CCTCCCGAGACAGGCACTTGCTGGATTCTCCAAAAGTATCTGCAGTGGCTGTTCCACCAGGAGAGCCTCAGCCTGCCTGGAAGATGCCGA
GATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGCCTGGAGAGCAGCC

>In-frame_POMC_ENST00000405623_chr2_25387510_-_RPL14_ENST00000338970_chr3_40503530_+_588nt
ACCTCAGAGGCTGCCCGGCCTGCCCCACACGGGGGTGCTAAGCCTCCCGCCCGTTCTAAGCGGAGACCCAACGCCATCCATAATTAAGTT
CTTCCTGAGGGCGAGCGGCCAGGTGCGCCTTCGGCAGGACAGTGCTAATTCCAGCCCCTTTCCAGCGCGTCTCCCCGCGCTCGTCCCCCG
TCTGGAAGCCCCCCTCCCACGCCCCGCGGCCCCCCTTCCCCTGGCCCGGGGAGCTGCTCCTTGTGCTGCCGGGAAGGTCAAAGTCCCGCG
CCCACCAGGAGAGCTCGGCAAGTATATAAGGACAGAGGAGCGCGGGACCAAGCGGCGGCGAAGGAGGGGAAGAAGAGCCGCGACCGAGAG
AGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGACAGGGGTCCCACCAATCTTGTTTGCTTCTGCAGAGCCTCAGCCTGCC
TGGAAGATGCCGAGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGC

>In-frame_POMC_ENST00000264708_chr2_25387510_-_RPL14_ENST00000396203_chr3_40503530_+_306nt
GGAGGGGAAGAAGAGCCGCGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGAGCAGCCTCCCGAGACAGGCACTTGCTGGATTCT
CCAAAAGTATCTGCAGTGGCTGTTCCACCAGGAGGGGTCCCACCAATCTTGTTTGCTTCTGCAGAGCCTCAGCCTGCCTGGAAGATGCCG
AGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCTTCAGGCCTCCATGGAAGTGCGTGGCTGGTGCCTGGAGAGCAGC

>In-frame_POMC_ENST00000395826_chr2_25387510_-_RPL14_ENST00000338970_chr3_40503530_+_259nt
GGACAGAGGAGCGCGGGACCAAGCGGCGGCGAAGGAGGGGAAGAAGAGCCGCGACCGAGAGAGGCCGCCGAGCGTCCCCGCCCTCAGAGA
GCAGCCTCCCGAGACAGAGCCTCAGCCTGCCTGGAAGATGCCGAGATCGTGCTGCAGCCGCTCGGGGGCCCTGTTGCTGGCCTTGCTGCT


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FusionGenePPI for POMC_RPL14


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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RelatedDrugs for POMC_RPL14


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePOMCP01189DB00836LoperamidePro-opiomelanocortinsmall moleculeapproved
TgeneRPL14P50914DB11638Artenimol60S ribosomal protein L14small moleculeapproved|investigational

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RelatedDiseases for POMC_RPL14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOMCC0020538Hypertensive disease68CTD_human
HgenePOMCC0037769West Syndrome20CTD_human
HgenePOMCC0020621Hypokalemia9CTD_human
HgenePOMCC0011581Depressive disorder6CTD_human;PSYGENET
HgenePOMCC0018800Cardiomegaly6CTD_human
HgenePOMCC0036572Seizures6CTD_human
HgenePOMCC0001973Alcoholic Intoxication, Chronic5PSYGENET
HgenePOMCC0007194Hypertrophic Cardiomyopathy5CTD_human
HgenePOMCC0011570Mental Depression5PSYGENET
HgenePOMCC0029456Osteoporosis5CTD_human
HgenePOMCC0001231ACTH Syndrome, Ectopic4CTD_human
HgenePOMCC0020649Hypotension4CTD_human
HgenePOMCC0038587Substance Withdrawal Syndrome4CTD_human
HgenePOMCC0236736Cocaine-Related Disorders4CTD_human
HgenePOMCC0005586Bipolar Disorder3CTD_human;PSYGENET
HgenePOMCC0013604Edema3CTD_human
HgenePOMCC0030193Pain3CTD_human
HgenePOMCC0030846Penile Diseases3CTD_human
HgenePOMCC0085762Alcohol abuse3PSYGENET
HgenePOMCC0428977Bradycardia3CTD_human
HgenePOMCC0007370Catalepsy2CTD_human
HgenePOMCC0010481Cushing Syndrome2CTD_human
HgenePOMCC0017658Glomerulonephritis2CTD_human
HgenePOMCC0018801Heart failure2CTD_human
HgenePOMCC0018965Hematuria2CTD_human
HgenePOMCC0019080Hemorrhage2CTD_human
HgenePOMCC0020438Hypercalciuria2CTD_human
HgenePOMCC0020488Hypernatremia2CTD_human
HgenePOMCC0022672Acute Kidney Tubular Necrosis2CTD_human
HgenePOMCC0023893Liver Cirrhosis, Experimental2CTD_human
HgenePOMCC0026769Multiple Sclerosis2CTD_human
HgenePOMCC0028754Obesity2CTD_human;HPO
HgenePOMCC0043094Weight Gain2CTD_human
HgenePOMCC0242184Hypoxia2CTD_human
HgenePOMCC1262477Weight decreased2CTD_human
HgenePOMCC3714514Infection2CTD_human
HgenePOMCC0001614Adrenal Cortex Diseases1CTD_human
HgenePOMCC0002622Amnesia1CTD_human
HgenePOMCC0003868Arthritis, Gouty1CTD_human
HgenePOMCC0004352Autistic Disorder1CTD_human
HgenePOMCC0004936Mental disorders1CTD_human
HgenePOMCC0005910Body Weight1CTD_human
HgenePOMCC0006663Calcinosis1CTD_human
HgenePOMCC0007134Renal Cell Carcinoma1CTD_human
HgenePOMCC0007789Cerebral Palsy1CTD_human
HgenePOMCC0008370Cholestasis1CTD_human;HPO
HgenePOMCC0009806Constipation1CTD_human
HgenePOMCC0010692Cystitis1CTD_human
HgenePOMCC0011848Diabetes Insipidus1CTD_human
HgenePOMCC0011849Diabetes Mellitus1CTD_human
HgenePOMCC0014544Epilepsy1CTD_human
HgenePOMCC0014549Tonic-Clonic Epilepsy1CTD_human
HgenePOMCC0014550Epilepsies, Myoclonic1CTD_human
HgenePOMCC0015397Disorder of eye1CTD_human
HgenePOMCC0015469Facial paralysis1CTD_human
HgenePOMCC0015695Fatty Liver1CTD_human
HgenePOMCC0015814Femur Head Necrosis1CTD_human
HgenePOMCC0015967Fever1CTD_human
HgenePOMCC0017178Gastrointestinal Diseases1CTD_human
HgenePOMCC0019337Heroin Dependence1CTD_human
HgenePOMCC0019572Hirsutism1CTD_human
HgenePOMCC0020598Hypocalcemia1CTD_human
HgenePOMCC0021053Immune System Diseases1CTD_human
HgenePOMCC0022650Kidney Calculi1CTD_human
HgenePOMCC0022658Kidney Diseases1CTD_human
HgenePOMCC0023976Long QT Syndrome1CTD_human
HgenePOMCC0025202melanoma1CTD_human
HgenePOMCC0026896Myasthenia Gravis1CTD_human
HgenePOMCC0027497Nausea1CTD_human
HgenePOMCC0027540Necrosis1CTD_human
HgenePOMCC0027709Nephrocalcinosis1CTD_human
HgenePOMCC0028961Oliguria1CTD_human
HgenePOMCC0030286Pancreatic Diseases1CTD_human
HgenePOMCC0032285Pneumonia1CTD_human
HgenePOMCC0032787Postoperative Complications1CTD_human
HgenePOMCC0033687Proteinuria1CTD_human
HgenePOMCC0035258Restless Legs Syndrome1CTD_human
HgenePOMCC0035411Rhabdomyoma1CTD_human
HgenePOMCC0037052Sick Sinus Syndrome1CTD_human
HgenePOMCC0039103Synovitis1CTD_human
HgenePOMCC0042029Urinary tract infection1CTD_human
HgenePOMCC0151744Myocardial Ischemia1CTD_human
HgenePOMCC0151827Eye pain1CTD_human
HgenePOMCC0162557Liver Failure, Acute1CTD_human
HgenePOMCC0221406Pituitary-dependent Cushing's disease1CTD_human
HgenePOMCC0340375Subaortic stenosis1CTD_human
HgenePOMCC0393626Opsoclonus-Myoclonus Syndrome1CTD_human
HgenePOMCC0553730Calcium pyrophosphate deposition disease1CTD_human
HgenePOMCC0574960Sacroiliitis1CTD_human
HgenePOMCC0600467Neurogenic Inflammation1CTD_human
HgenePOMCC0878544Cardiomyopathies1CTD_human
HgenePOMCC2937358Cerebral Hemorrhage1CTD_human
HgenePOMCC4042891Sleep Wake Disorders1CTD_human
TgeneRPL14C0007134Renal Cell Carcinoma1CTD_human
TgeneRPL14C0030567Parkinson Disease1CTD_human