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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:PHLDA1-GSN (FusionGDB2 ID:64544)

Fusion Gene Summary for PHLDA1-GSN

check button Fusion gene summary
Fusion gene informationFusion gene name: PHLDA1-GSN
Fusion gene ID: 64544
HgeneTgene
Gene symbol

PHLDA1

GSN

Gene ID

22822

2934

Gene namepleckstrin homology like domain family A member 1gelsolin
SynonymsDT1P1B11|PHRIP|TDAG51ADF|AGEL
Cytomap

12q21.2

9q33.2

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology-like domain family A member 1PQ-rich proteinPQR proteinT-cell death-associated gene 51 proteinapoptosis-associated nuclear proteinproline- and glutamine-rich proteinproline- and histidine-rich proteinproline-histidine rich protegelsolinactin-depolymerizing factorbrevinepididymis secretory sperm binding protein
Modification date2020031320200329
UniProtAcc.

P06396

Ensembl transtripts involved in fusion geneENST00000602540, ENST00000266671, 
ENST00000373823, ENST00000373808, 
ENST00000436847, ENST00000449733, 
ENST00000412819, ENST00000394353, 
ENST00000341272, ENST00000545652, 
ENST00000373818, ENST00000485767, 
ENST00000373807, ENST00000373806, 
Fusion gene scores* DoF score3 X 4 X 1=1212 X 14 X 2=336
# samples 414
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/336*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHLDA1 [Title/Abstract] AND GSN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPHLDA1(76423792)-GSN(124089677), # 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
TgeneGSN

GO:0030041

actin filament polymerization

3020431

TgeneGSN

GO:0051014

actin filament severing

3020431


check buttonFusion gene breakpoints across PHLDA1 (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 GSN (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/ABF149146PHLDA1chr12

76423792

+GSNchr9

124089677

+


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Fusion Gene ORF analysis for PHLDA1-GSN

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-3CDSENST00000602540ENST00000373823PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000373808PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000436847PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000449733PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000412819PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000394353PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000341272PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000545652PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000602540ENST00000373818PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-intronENST00000602540ENST00000485767PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-intronENST00000602540ENST00000373807PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-intronENST00000602540ENST00000373806PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000373823PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000373808PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000436847PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000449733PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000412819PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000394353PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000341272PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000545652PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-3CDSENST00000266671ENST00000373818PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-intronENST00000266671ENST00000485767PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-intronENST00000266671ENST00000373807PHLDA1chr12

76423792

+GSNchr9

124089677

+
intron-intronENST00000266671ENST00000373806PHLDA1chr12

76423792

+GSNchr9

124089677

+

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 PHLDA1-GSN


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 PHLDA1-GSN


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
.GSN

P06396

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: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis. {ECO:0000269|PubMed:20393563}.

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 PHLDA1-GSN


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 PHLDA1-GSN


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 PHLDA1-GSN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGSNP06396DB01593ZincSmall moleculeApproved|Investigational
TgeneGSNP06396DB09130CopperSmall moleculeApproved|Investigational
TgeneGSNP06396DB14487Zinc acetateSmall moleculeApproved|Investigational

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Related Diseases for PHLDA1-GSN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePHLDA1C0004238Atrial Fibrillation1CTD_human
HgenePHLDA1C0162820Dermatitis, Allergic Contact1CTD_human
HgenePHLDA1C0235480Paroxysmal atrial fibrillation1CTD_human
HgenePHLDA1C2239176Liver carcinoma1CTD_human
HgenePHLDA1C2585653Persistent atrial fibrillation1CTD_human
HgenePHLDA1C3468561familial atrial fibrillation1CTD_human
TgeneGSNC1622345Meretoja syndrome6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGSNC0936273Familial Amyloid Polyneuropathy, Type IV3ORPHANET
TgeneGSNC0001787Osteoporosis, Age-Related1CTD_human
TgeneGSNC0002726Amyloidosis1GENOMICS_ENGLAND
TgeneGSNC0018800Cardiomegaly1CTD_human
TgeneGSNC0019193Hepatitis, Toxic1CTD_human
TgeneGSNC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneGSNC0025500Mesothelioma1CTD_human
TgeneGSNC0029456Osteoporosis1CTD_human
TgeneGSNC0029459Osteoporosis, Senile1CTD_human
TgeneGSNC0030524Paratuberculosis1CTD_human
TgeneGSNC0036341Schizophrenia1PSYGENET
TgeneGSNC0043094Weight Gain1CTD_human
TgeneGSNC0268389Amyloidosis, familial visceral1GENOMICS_ENGLAND
TgeneGSNC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneGSNC0860207Drug-Induced Liver Disease1CTD_human
TgeneGSNC0948089Acute Coronary Syndrome1CTD_human
TgeneGSNC1262760Hepatitis, Drug-Induced1CTD_human
TgeneGSNC1383860Cardiac Hypertrophy1CTD_human
TgeneGSNC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneGSNC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneGSNC4279912Chemically-Induced Liver Toxicity1CTD_human