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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:HSP90B1-ACTN4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HSP90B1-ACTN4
FusionPDB ID: 37815
FusionGDB2.0 ID: 37815
HgeneTgene
Gene symbol

HSP90B1

ACTN4

Gene ID

7184

81

Gene nameheat shock protein 90 beta family member 1actinin alpha 4
SynonymsECGP|GP96|GRP94|HEL-S-125m|HEL35|TRA1ACTININ-4|FSGS|FSGS1
Cytomap

12q23.3

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionendoplasmin94 kDa glucose-regulated proteinendothelial cell (HBMEC) glycoproteinepididymis luminal protein 35epididymis secretory sperm binding protein Li 125mheat shock protein 90 kDa beta member 1heat shock protein 90kDa beta (Grp94), member 1heaalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4
Modification date2020032020200327
UniProtAcc

P14625

O43707

Ensembl transtripts involved in fusion geneENST idsENST00000299767, ENST00000497637, 
ENST00000252699, ENST00000390009, 
ENST00000424234, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 19 X 10=361027 X 38 X 12=12312
# samples 2548
** MAII scorelog2(25/3610*10)=-3.85199883711245
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(48/12312*10)=-4.68088692071969
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HSP90B1 [Title/Abstract] AND ACTN4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HSP90B1(104331584)-ACTN4(39219913), # samples:1
Anticipated loss of major functional domain due to fusion event.HSP90B1-ACTN4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
HSP90B1-ACTN4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
HSP90B1-ACTN4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
HSP90B1-ACTN4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneHSP90B1

GO:0001666

response to hypoxia

15620698

HgeneHSP90B1

GO:0031247

actin rod assembly

19000834

HgeneHSP90B1

GO:0043666

regulation of phosphoprotein phosphatase activity

19000834

HgeneHSP90B1

GO:0071318

cellular response to ATP

19000834

TgeneACTN4

GO:0033209

tumor necrosis factor-mediated signaling pathway

25411248

TgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

TgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

TgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771


check buttonFusion gene breakpoints across HSP90B1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ACTN4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-HU-A4H2HSP90B1chr12

104331584

+ACTN4chr19

39219913

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000299767HSP90B1chr12104331584+ENST00000252699ACTN4chr1939219913+334710371821195337
ENST00000299767HSP90B1chr12104331584+ENST00000424234ACTN4chr1939219913+119610371821195338
ENST00000299767HSP90B1chr12104331584+ENST00000390009ACTN4chr1939219913+121110371821195337

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
ENST00000299767ENST00000252699HSP90B1chr12104331584+ACTN4chr1939219913+0.0006896080.9993104
ENST00000299767ENST00000424234HSP90B1chr12104331584+ACTN4chr1939219913+0.0004579010.9995421
ENST00000299767ENST00000390009HSP90B1chr12104331584+ACTN4chr1939219913+0.0005021680.9994978

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>37815_37815_1_HSP90B1-ACTN4_HSP90B1_chr12_104331584_ENST00000299767_ACTN4_chr19_39219913_ENST00000252699_length(amino acids)=337AA_BP=285
MRALWVLGLCCVLLTFGSVRADDEVDVDGTVEEDLGKSREGSRTDDEVVQREEEAIQLDGLNASQIRELREKSEKFAFQAEVNRMMKLII
NSLYKNKEIFLRELISNASDALDKIRLISLTDENALSGNEELTVKIKCDKEKNLLHVTDTGVGMTREELVKNLGTIAKSGTSEFLNKMTE
AQEDGQSTSELIGQFGVGFYSAFLVADKVIVTSKHNNDTQHIWESDSNEFSVIADPRGNTLGRGTTITLVLKEEASDYLELDTIKNLVKK

--------------------------------------------------------------

>37815_37815_2_HSP90B1-ACTN4_HSP90B1_chr12_104331584_ENST00000299767_ACTN4_chr19_39219913_ENST00000390009_length(amino acids)=337AA_BP=285
MRALWVLGLCCVLLTFGSVRADDEVDVDGTVEEDLGKSREGSRTDDEVVQREEEAIQLDGLNASQIRELREKSEKFAFQAEVNRMMKLII
NSLYKNKEIFLRELISNASDALDKIRLISLTDENALSGNEELTVKIKCDKEKNLLHVTDTGVGMTREELVKNLGTIAKSGTSEFLNKMTE
AQEDGQSTSELIGQFGVGFYSAFLVADKVIVTSKHNNDTQHIWESDSNEFSVIADPRGNTLGRGTTITLVLKEEASDYLELDTIKNLVKK

--------------------------------------------------------------

>37815_37815_3_HSP90B1-ACTN4_HSP90B1_chr12_104331584_ENST00000299767_ACTN4_chr19_39219913_ENST00000424234_length(amino acids)=338AA_BP=285
MRALWVLGLCCVLLTFGSVRADDEVDVDGTVEEDLGKSREGSRTDDEVVQREEEAIQLDGLNASQIRELREKSEKFAFQAEVNRMMKLII
NSLYKNKEIFLRELISNASDALDKIRLISLTDENALSGNEELTVKIKCDKEKNLLHVTDTGVGMTREELVKNLGTIAKSGTSEFLNKMTE
AQEDGQSTSELIGQFGVGFYSAFLVADKVIVTSKHNNDTQHIWESDSNEFSVIADPRGNTLGRGTTITLVLKEEASDYLELDTIKNLVKK

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:104331584/chr19:39219913)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSP90B1

P14625

ACTN4

O43707

FUNCTION: Molecular chaperone that functions in the processing and transport of secreted proteins (By similarity). When associated with CNPY3, required for proper folding of Toll-like receptors (By similarity). Functions in endoplasmic reticulum associated degradation (ERAD) (PubMed:18264092). Has ATPase activity (By similarity). May participate in the unfolding of cytosolic leaderless cargos (lacking the secretion signal sequence) such as the interleukin 1/IL-1 to facilitate their translocation into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and secretion; the translocation process is mediated by the cargo receptor TMED10 (PubMed:32272059). {ECO:0000250|UniProtKB:P08113, ECO:0000269|PubMed:18264092, ECO:0000269|PubMed:32272059}.FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). {ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214778_789640.0693.0Calcium binding1
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214819_830640.0693.0Calcium binding2
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214765_800640.0693.0DomainEF-hand 1
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214806_841640.0693.0DomainEF-hand 2
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214649_752640.0693.0RepeatSpectrin 4

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHSP90B1chr12:104331584chr19:39219913ENST00000299767+618800_803285.0804.0MotifNote=Prevents secretion from ER
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921778_789859.0912.0Calcium binding1
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921819_830859.0912.0Calcium binding2
TgeneACTN4chr12:104331584chr19:39219913ENST00000252699192119_26859.0912.0Compositional biasPoly-Gly
TgeneACTN4chr12:104331584chr19:39219913ENST00000390009121419_26640.0693.0Compositional biasPoly-Gly
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921163_269859.0912.0DomainCalponin-homology (CH) 2
TgeneACTN4chr12:104331584chr19:39219913ENST00000252699192150_154859.0912.0DomainCalponin-homology (CH) 1
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921765_800859.0912.0DomainEF-hand 1
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921806_841859.0912.0DomainEF-hand 2
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214163_269640.0693.0DomainCalponin-homology (CH) 2
TgeneACTN4chr12:104331584chr19:39219913ENST00000390009121450_154640.0693.0DomainCalponin-homology (CH) 1
TgeneACTN4chr12:104331584chr19:39219913ENST00000252699192184_88859.0912.0MotifLXXLL motif
TgeneACTN4chr12:104331584chr19:39219913ENST00000390009121484_88640.0693.0MotifLXXLL motif
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921177_192859.0912.0RegionPolyphosphoinositide (PIP2)-binding
TgeneACTN4chr12:104331584chr19:39219913ENST0000025269919211_269859.0912.0RegionNote=Actin-binding
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214177_192640.0693.0RegionPolyphosphoinositide (PIP2)-binding
TgeneACTN4chr12:104331584chr19:39219913ENST0000039000912141_269640.0693.0RegionNote=Actin-binding
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921293_403859.0912.0RepeatSpectrin 1
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921413_518859.0912.0RepeatSpectrin 2
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921528_639859.0912.0RepeatSpectrin 3
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921649_752859.0912.0RepeatSpectrin 4
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214293_403640.0693.0RepeatSpectrin 1
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214413_518640.0693.0RepeatSpectrin 2
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214528_639640.0693.0RepeatSpectrin 3


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
ACTN4MYOZ2, MYOZ1, PDLIM1, USP6NL, P2rx7, SLC9A3R2, COL17A1, TRIM3, MAGI1, GSN, Lrrc7, CAMK2A, CAMK2B, INO80, UBTF, STAT1, HDAC7, MEF2A, UCHL5, TJP1, ATXN7, HDAC5, VDR, ESR1, PSMA3, ELAVL1, SIRT7, SLC2A4, ISG15, COIL, SACS, HGS, UBASH3B, SHC1, NOS3, ACTN2, ACTN1, FMNL1, TRAF3IP1, FN1, VCAM1, Fcho2, CDH1, ITGA4, SVIL, CD81, IGSF8, ICAM1, TXN, RPS27, POT1, KPNA2, MAPK7, CDKN2A, VCP, SF3A3, GNB2, HUWE1, ACTN3, BMP7, ALK, CUL7, OBSL1, CCDC8, EGFR, LUZP4, RARA, HSPB1, AHNAK, ALDOA, ALDOC, IDH3A, MYH15, MYH2, MYH7B, NCAPG2, PSMA6, PSMB5, PUS7, TPM2, TSG101, CKB, CYC1, ECSIT, MCFD2, PSMB8, TPM1, TPM3, TPM4, NTRK1, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, SIN3B, MYEF2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot2, Myh9, Myo1c, Tpm1, Coro1c, Tmod3, Lima1, Ncbp2, Calml3, Myh10, Flnb, CTNNB1, MCM2, NFYA, CDC73, LCMT2, MEOX2, SORBS2, DDIAS, SSH1, act1, SLC9A1, NCL, DLD, DNM1L, PDHA1, SOD1, TRIM25, TES, CFTR, PPM1D, HDAC4, UBE2M, RAD18, PRPF8, TNIP2, RNF4, TRIM23, AGR2, ACTA1, MYC, CDK9, KIAA1429, ATG16L1, ACTC1, USP14, HDAC2, GBF1, AGRN, DYNC1LI1, BMH1, BMH2, ATXN3, BRF1, CYB5B, GBAS, HADHB, SYNJ2BP, VDAC3, RELA, PRMT5, MDP1, GRIN1, RGS9, BIRC3, SOX2, LNX1, MICALL2, C14orf119, PLEKHA4, PINK1, FANCD2, SH2D3C, SRC, TTN, NEK4, CIT, CHMP4B, CHMP4C, PTGER4, ECT2, KIF14, KIF20A, PRC1, PRNP, MKI67, HNRNPH1, NMRAL1, NUPR1, TRIM21, Apc2, RBM39, LGALS9, YWHAE, EIF3F, INSIG1, INSIG2, RIN3, CANX, GGH, ERP44, ACO2, KDM4C, AHCY, SHMT2, IDH2, SMCHD1, AR, TP53, ACTB, ANKFY1, EZR, RDX, VASP, ZYX, TRIM37, HTRA4, NUDCD2, BGLT3, BTF3, SEPT9, UBR5, LHPP, TFRC, CTSB, CTSS, DPP4, ORF3a, ORF8, NRP1, TMPRSS2, TOP3B, CTSL, FURIN, IFITM1, ANPEP, BSG, IFITM3, TMPRSS11B, CLEC4D, ACE2, TMPRSS4, CLEC4E, nsp2, ORF10, FGD5, TMEM106B, PDE4B, PER2, OTUD3, SIK2,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
HSP90B1
ACTN4all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneACTN4chr12:104331584chr19:39219913ENST000002526991921108_126859.0912.0VCL
TgeneACTN4chr12:104331584chr19:39219913ENST00000252699192112_26859.0912.0VCL
TgeneACTN4chr12:104331584chr19:39219913ENST00000252699192140_61859.0912.0VCL
TgeneACTN4chr12:104331584chr19:39219913ENST000003900091214108_126640.0693.0VCL
TgeneACTN4chr12:104331584chr19:39219913ENST00000390009121412_26640.0693.0VCL
TgeneACTN4chr12:104331584chr19:39219913ENST00000390009121440_61640.0693.0VCL


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Related Drugs to HSP90B1-ACTN4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to HSP90B1-ACTN4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACTN4C4551527Focal segmental glomerulosclerosis 19GENOMICS_ENGLAND;UNIPROT
TgeneACTN4C0007097Carcinoma1CTD_human
TgeneACTN4C0019193Hepatitis, Toxic1CTD_human
TgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneACTN4C0205696Anaplastic carcinoma1CTD_human
TgeneACTN4C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneACTN4C0205698Undifferentiated carcinoma1CTD_human
TgeneACTN4C0205699Carcinomatosis1CTD_human
TgeneACTN4C0860207Drug-Induced Liver Disease1CTD_human
TgeneACTN4C1257925Mammary Carcinoma, Animal1CTD_human
TgeneACTN4C1262760Hepatitis, Drug-Induced1CTD_human
TgeneACTN4C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1ORPHANET
TgeneACTN4C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneACTN4C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneACTN4C4279912Chemically-Induced Liver Toxicity1CTD_human