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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:PHB2-FHL1 (FusionGDB2 ID:64312)

Fusion Gene Summary for PHB2-FHL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHB2-FHL1
Fusion gene ID: 64312
HgeneTgene
Gene symbol

PHB2

FHL1

Gene ID

11331

3075

Gene nameprohibitin 2complement factor H
SynonymsBAP|BCAP37|Bap37|PNAS-141|REA|hBAP|p22AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS
Cytomap

12p13.31

1q31.3

Type of geneprotein-codingprotein-coding
Descriptionprohibitin-2B-cell associated proteinB-cell receptor-associated protein BAP37D-prohibitinrepressor of estrogen receptor activitycomplement factor HH factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1
Modification date2020032020200327
UniProtAcc.

Q13642

Ensembl transtripts involved in fusion geneENST00000546111, ENST00000535923, 
ENST00000542912, ENST00000440277, 
ENST00000399433, ENST00000544134, 
ENST00000394155, ENST00000370690, 
ENST00000535737, ENST00000543669, 
ENST00000394153, ENST00000345434, 
ENST00000539015, ENST00000370683, 
ENST00000370676, ENST00000477080, 
Fusion gene scores* DoF score11 X 11 X 3=3634 X 4 X 2=32
# samples 114
** MAII scorelog2(11/363*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHB2 [Title/Abstract] AND FHL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPHB2(7079739)-FHL1(135290092), # 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
HgenePHB2

GO:0006606

protein import into nucleus

17008324

HgenePHB2

GO:0007062

sister chromatid cohesion

23548868

HgenePHB2

GO:0030449

regulation of complement activation

17070910

HgenePHB2

GO:0045892

negative regulation of transcription, DNA-templated

10359819

HgenePHB2

GO:0051091

positive regulation of DNA-binding transcription factor activity

18629613

TgeneFHL1

GO:0006956

complement activation

24835392

TgeneFHL1

GO:0030449

regulation of complement activation

25284781

TgeneFHL1

GO:1903659

regulation of complement-dependent cytotoxicity

25284781


check buttonFusion gene breakpoints across PHB2 (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 FHL1 (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/ADA822142PHB2chr12

7079739

-FHL1chrX

135290092

+


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Fusion Gene ORF analysis for PHB2-FHL1

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-3CDSENST00000546111ENST00000394155PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000370690PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000535737PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000543669PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000394153PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000345434PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000539015PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000370683PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000546111ENST00000370676PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-intronENST00000546111ENST00000477080PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000394155PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000370690PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000535737PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000543669PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000394153PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000345434PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000539015PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000370683PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000535923ENST00000370676PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-intronENST00000535923ENST00000477080PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000394155PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000370690PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000535737PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000543669PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000394153PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000345434PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000539015PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000370683PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000542912ENST00000370676PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-intronENST00000542912ENST00000477080PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000394155PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000370690PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000535737PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000543669PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000394153PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000345434PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000539015PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000370683PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000440277ENST00000370676PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-intronENST00000440277ENST00000477080PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000394155PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000370690PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000535737PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000543669PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000394153PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000345434PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000539015PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000370683PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000399433ENST00000370676PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-intronENST00000399433ENST00000477080PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000394155PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000370690PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000535737PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000543669PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000394153PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000345434PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000539015PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000370683PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-3CDSENST00000544134ENST00000370676PHB2chr12

7079739

-FHL1chrX

135290092

+
intron-intronENST00000544134ENST00000477080PHB2chr12

7079739

-FHL1chrX

135290092

+

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 PHB2-FHL1


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 PHB2-FHL1


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
.FHL1

Q13642

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: May have an involvement in muscle development or hypertrophy.

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 PHB2-FHL1


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 PHB2-FHL1


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 PHB2-FHL1


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

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Related Diseases for PHB2-FHL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFHL1C4225159REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET6GENOMICS_ENGLAND;UNIPROT
TgeneFHL1C2678055MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFHL1C4225423REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET4GENOMICS_ENGLAND;UNIPROT
TgeneFHL1C2678061SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFHL1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneFHL1C0270970Reducing-body myopathy1ORPHANET
TgeneFHL1C1135196Heart Failure, Diastolic1CTD_human
TgeneFHL1C1846010URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME1GENOMICS_ENGLAND