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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: 26871

FusionGeneSummary for PHB2_FHL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHB2_FHL1
Fusion gene ID: 26871
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 date2018051920180520
UniProtAcc

Q99623

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 score7 X 7 X 2=983 X 3 X 1=9
# samples 73
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/9*10)=1.73696559416621
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]

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
HgenePHB2

GO:0000060

protein import into nucleus, translocation

17008324|19116139

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


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
ChiTaRS3.1DA822142PHB2chr12

7079739

-FHL1chrX

135290092

+
* 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
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

+

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FusionProtFeatures for PHB2_FHL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHB2

Q99623

FHL1

Q13642

Acts as a mediator of transcriptional repression bynuclear hormone receptors via recruitment of histone deacetylases(By similarity). Functions as an estrogen receptor (ER)-selectivecoregulator that potentiates the inhibitory activities ofantiestrogens and represses the activity of estrogens. Competeswith NCOA1 for modulation of ER transcriptional activity. Probablyinvolved in regulating mitochondrial respiration activity and inaging. {ECO:0000250|UniProtKB:O35129, ECO:0000269|PubMed:10359819,ECO:0000303|PubMed:11302691}.

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 PHB2_FHL1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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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RelatedDrugs for PHB2_FHL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePHB2Q99623DB06774CapsaicinProhibitin-2small moleculeapproved

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RelatedDiseases for PHB2_FHL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFHL1C2678055MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)3CTD_human;ORPHANET;UNIPROT
TgeneFHL1C4225159REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET3UNIPROT
TgeneFHL1C2678061SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT2CTD_human;ORPHANET;UNIPROT
TgeneFHL1C4225423REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET2UNIPROT
TgeneFHL1C0023893Liver Cirrhosis, Experimental1CTD_human