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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: 16891

FusionGeneSummary for HSPB1_FARP2

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPB1_FARP2
Fusion gene ID: 16891
HgeneTgene
Gene symbol

HSPB1

FARP2

Gene ID

3315

9855

Gene nameheat shock protein family B (small) member 1FERM, ARH/RhoGEF and pleckstrin domain protein 2
SynonymsCMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27FIR|FRG|PLEKHC3
Cytomap

7q11.23

2q37.3

Type of geneprotein-codingprotein-coding
Descriptionheat shock protein beta-128 kDa heat shock proteinepididymis secretory protein Li 102estrogen-regulated 24 kDa proteinheat shock 27 kDa proteinheat shock 27kD protein 1heat shock 27kDa protein 1stress-responsive protein 27FERM, ARHGEF and pleckstrin domain-containing protein 2FERM domain including RhoGEFFERM, RhoGEF and pleckstrin domain protein 2FERM, RhoGEF and pleckstrin domain-containing protein 2FGD1-related Cdc42-GEFPH domain-containing family C member 3pleckst
Modification date2018052720180519
UniProtAcc

P04792

O94887

Ensembl transtripts involved in fusion geneENST00000248553, ENST00000429938, 
ENST00000264042, ENST00000545004, 
ENST00000373287, ENST00000479427, 
Fusion gene scores* DoF score20 X 13 X 6=15603 X 3 X 3=27
# samples 213
** MAII scorelog2(21/1560*10)=-2.89308479608349
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HSPB1 [Title/Abstract] AND FARP2 [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
TgeneFARP2

GO:0016322

neuron remodeling

12351724

TgeneFARP2

GO:0016601

Rac protein signal transduction

12351724


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
ChiTaRS3.1AI470274HSPB1chr7

75933548

-FARP2chr2

242382741

-
* 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
3UTR-intronENST00000248553ENST00000264042HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000248553ENST00000545004HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000248553ENST00000373287HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000248553ENST00000479427HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000429938ENST00000264042HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000429938ENST00000545004HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000429938ENST00000373287HSPB1chr7

75933548

-FARP2chr2

242382741

-
3UTR-intronENST00000429938ENST00000479427HSPB1chr7

75933548

-FARP2chr2

242382741

-

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FusionProtFeatures for HSPB1_FARP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSPB1

P04792

FARP2

O94887

Functions as guanine nucleotide exchange factor thatactivates RAC1. May have relatively low activity. Plays a role inthe response to class 3 semaphorins and remodeling of the actincytoskeleton. Plays a role in TNFSF11-mediated osteoclastdifferentiation, especially in podosome rearrangement andreorganization of the actin cytoskeleton. Regulates the activationof ITGB3, integrin signaling and cell adhesion (By similarity).{ECO:0000250}.

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 HSPB1_FARP2


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 HSPB1_FARP2


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 HSPB1_FARP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHSPB1P04792DB11638ArtenimolHeat shock protein beta-1small moleculeapproved|investigational

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RelatedDiseases for HSPB1_FARP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSPB1C2608087NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB9CTD_human;UNIPROT
HgeneHSPB1C1847823CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F6CTD_human;ORPHANET;UNIPROT
HgeneHSPB1C0007134Renal Cell Carcinoma1CTD_human
HgeneHSPB1C0007137Squamous cell carcinoma1CTD_human
HgeneHSPB1C0007194Hypertrophic Cardiomyopathy1CTD_human
HgeneHSPB1C0009375Colonic Neoplasms1CTD_human
HgeneHSPB1C0011616Contact Dermatitis1CTD_human
HgeneHSPB1C0018801Heart failure1CTD_human
HgeneHSPB1C0019693HIV Infections1CTD_human
HgeneHSPB1C0020507Hyperplasia1CTD_human
HgeneHSPB1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneHSPB1C0026640Mouth Neoplasms1CTD_human
HgeneHSPB1C0026764Multiple Myeloma1CTD_human
HgeneHSPB1C0035126Reperfusion Injury1CTD_human
HgeneHSPB1C0038220Status Epilepticus1CTD_human
HgeneHSPB1C0038356Stomach Neoplasms1CTD_human
HgeneHSPB1C0040411Tongue Neoplasms1CTD_human
HgeneHSPB1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneHSPB1C2239176Liver carcinoma1CTD_human
TgeneFARP2C0004352Autistic Disorder1CTD_human
TgeneFARP2C0023434Chronic Lymphocytic Leukemia1CTD_human
TgeneFARP2C2931817Chromosome 2q37 deletion syndrome1CTD_human