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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:LONP1-SAFB2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LONP1-SAFB2
FusionPDB ID: 49426
FusionGDB2.0 ID: 49426
HgeneTgene
Gene symbol

LONP1

SAFB2

Gene ID

9361

9667

Gene namelon peptidase 1, mitochondrialscaffold attachment factor B2
SynonymsCODASS|LON|LONP|LonHS|PIM1|PRSS15|hLON-
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionlon protease homolog, mitochondrialhLON ATP-dependent proteaselon protease-like proteinmitochondrial ATP-dependent protease Lonmitochondrial lon protease-like proteinserine protease 15scaffold attachment factor B2
Modification date2020031320200313
UniProtAcc

P36776

.
Ensembl transtripts involved in fusion geneENST idsENST00000360614, ENST00000540670, 
ENST00000585374, ENST00000590729, 
ENST00000593119, ENST00000590511, 
ENST00000591310, ENST00000252542, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 14 X 12=30248 X 8 X 5=320
# samples 239
** MAII scorelog2(23/3024*10)=-3.7167523732767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LONP1 [Title/Abstract] AND SAFB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SAFB2(5598804)-LONP1(5708414), # samples:3
LONP1(5705783)-SAFB2(5600271), # samples:1
LONP1(5705782)-SAFB2(5604947), # samples:1
Anticipated loss of major functional domain due to fusion event.LONP1-SAFB2 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.
LONP1-SAFB2 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.
LONP1-SAFB2 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.
LONP1-SAFB2 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.
SAFB2-LONP1 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.
SAFB2-LONP1 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.
SAFB2-LONP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SAFB2-LONP1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
SAFB2-LONP1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
SAFB2-LONP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
LONP1-SAFB2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
LONP1-SAFB2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
LONP1-SAFB2 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
LONP1-SAFB2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted 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
HgeneLONP1

GO:0034599

cellular response to oxidative stress

17420247

HgeneLONP1

GO:0051603

proteolysis involved in cellular protein catabolic process

8248235|17420247


check buttonFusion gene breakpoints across LONP1 (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 SAFB2 (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
ChimerDB4BRCATCGA-AR-A251-01ALONP1chr19

5705783

-SAFB2chr19

5600271

-
ChimerDB4BRCATCGA-AR-A251LONP1chr19

5705782

-SAFB2chr19

5604947

-


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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)
ENST00000360614LONP1chr195705783-ENST00000252542SAFB2chr195600271-30721525382827929
ENST00000593119LONP1chr195705783-ENST00000252542SAFB2chr195600271-27551208332510825
ENST00000540670LONP1chr195705783-ENST00000252542SAFB2chr195600271-283912923692594741
ENST00000590729LONP1chr195705783-ENST00000252542SAFB2chr195600271-25831036592338759
ENST00000585374LONP1chr195705782-ENST00000252542SAFB2chr195604947-2982117212382737499

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
ENST00000360614ENST00000252542LONP1chr195705783-SAFB2chr195600271-0.0052758760.9947241
ENST00000593119ENST00000252542LONP1chr195705783-SAFB2chr195600271-0.0092834510.9907165
ENST00000540670ENST00000252542LONP1chr195705783-SAFB2chr195600271-0.0163484770.9836516
ENST00000590729ENST00000252542LONP1chr195705783-SAFB2chr195600271-0.006648260.99335176
ENST00000585374ENST00000252542LONP1chr195705782-SAFB2chr195604947-0.0333741530.9666258

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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

>49426_49426_1_LONP1-SAFB2_LONP1_chr19_5705782_ENST00000585374_SAFB2_chr19_5604947_ENST00000252542_length(amino acids)=499AA_BP=163
MSTSDEATKCISHLHRTELHGRMISVEKAKNEPAGKKLSDRKECEVKKEKLSSVDRHHSVEIKIEKTVIKKEEKIEKKEEKKPEDIKKEE
KDQDELKPGPTNRSRVTKSGSRGMERTVVMDKSKGEPVISVKTTSRSKERSSKSQDRKSESKEKRDILSFDKIKEQRERERQRQREREIR
ETERRREREQREREQRLEAFHERKEKARLQRERLQLECQRQRLERERMERERLERERMRVERERRKEQERIHREREELRRQQEQLRYEQE
RRPGRRPYDLDRRDDAYWPEGKRVAMEDRYRADFPRPDHRFHDFDHRDRGQYQDHAIDRREGSRPMMGDHRDGQHYGDDRHGHGGPPERH
GRDSRDGWGGYGSDKRLSEGRGLPPPPRGGRDWGEHNQRLEEHQARAWQGAMDAGAASREHARWQGGERGLSGPSGPGHMASRGGVAGRG

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

>49426_49426_2_LONP1-SAFB2_LONP1_chr19_5705783_ENST00000360614_SAFB2_chr19_5600271_ENST00000252542_length(amino acids)=929AA_BP=1
MKRLFRATRPSGTEARAGRHVRFAASGNDASCVSRQYGRAMAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLRGQRTCDASP
PWALWGRGPAIGGQWRGFWEASSRGGGAFSGGEDASEGGAEEGAGGAGGSAGAGEGPVITALTPMTIPDVFPHLPLIAITRNPVFPRFIK
IIEVKNKKLVELLRRKVRLAQPYVGVFLKRDDSNESDVVESLDEIYHTGTFAQIHEMQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAE
NKHKPRRKSKRGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTIRDIIALNPLYRESVLQMMQA
GQRVVDNPIYLSDMGAALTGAESHELQDVLEETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLE
KDDKDAIEEKFRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFKTVIKKEEKIEKKEEKKPEDIKKEEKDQDELKPGPTNRSRVTKSG
SRGMERTVVMDKSKGEPVISVKTTSRSKERSSKSQDRKSESKEKRDILSFDKIKEQRERERQRQREREIRETERRREREQREREQRLEAF
HERKEKARLQRERLQLECQRQRLERERMERERLERERMRVERERRKEQERIHREREELRRQQEQLRYEQERRPGRRPYDLDRRDDAYWPE
GKRVAMEDRYRADFPRPDHRFHDFDHRDRGQYQDHAIDRREGSRPMMGDHRDGQHYGDDRHGHGGPPERHGRDSRDGWGGYGSDKRLSEG
RGLPPPPRGGRDWGEHNQRLEEHQARAWQGAMDAGAASREHARWQGGERGLSGPSGPGHMASRGGVAGRGGFAQGGHSQGHVVPGGGLEG

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

>49426_49426_3_LONP1-SAFB2_LONP1_chr19_5705783_ENST00000540670_SAFB2_chr19_5600271_ENST00000252542_length(amino acids)=741AA_BP=1
MVELLRRKVRLAQPYVGVFLKRDDSNESDVVESLDEIYHTGTFAQIHEMQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRK
SKRGKKEAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTIRDIIALNPLYRESVLQMMQAGQRVVDNP
IYLSDMGAALTGAESHELQDVLEETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIE
EKFRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFKTVIKKEEKIEKKEEKKPEDIKKEEKDQDELKPGPTNRSRVTKSGSRGMERTV
VMDKSKGEPVISVKTTSRSKERSSKSQDRKSESKEKRDILSFDKIKEQRERERQRQREREIRETERRREREQREREQRLEAFHERKEKAR
LQRERLQLECQRQRLERERMERERLERERMRVERERRKEQERIHREREELRRQQEQLRYEQERRPGRRPYDLDRRDDAYWPEGKRVAMED
RYRADFPRPDHRFHDFDHRDRGQYQDHAIDRREGSRPMMGDHRDGQHYGDDRHGHGGPPERHGRDSRDGWGGYGSDKRLSEGRGLPPPPR
GGRDWGEHNQRLEEHQARAWQGAMDAGAASREHARWQGGERGLSGPSGPGHMASRGGVAGRGGFAQGGHSQGHVVPGGGLEGGGVASQDR

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

>49426_49426_4_LONP1-SAFB2_LONP1_chr19_5705783_ENST00000590729_SAFB2_chr19_5600271_ENST00000252542_length(amino acids)=759AA_BP=0
MTIPDVFPHLPLIAITRNPVFPRFIKIIEVKNKKLVELLRRKVRLAQPYVGVFLKRDDSNESDVVESLDEIYHTGTFAQIHEMQDLGDKL
RMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRKSKRGKKEAEDELSARHPAELAMEPTPELPAEVLMVEALTAEIVKTIRDIIALNPLY
RESVLQMMQAGQRVVDNPIYLSDMGAALTGAESHELQDVLEETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQL
KIIKKELGLEKDDKDAIEEKFRERLKELVVPKHVMDVVDEELSKLGLLDNHSSEFKTVIKKEEKIEKKEEKKPEDIKKEEKDQDELKPGP
TNRSRVTKSGSRGMERTVVMDKSKGEPVISVKTTSRSKERSSKSQDRKSESKEKRDILSFDKIKEQRERERQRQREREIRETERRREREQ
REREQRLEAFHERKEKARLQRERLQLECQRQRLERERMERERLERERMRVERERRKEQERIHREREELRRQQEQLRYEQERRPGRRPYDL
DRRDDAYWPEGKRVAMEDRYRADFPRPDHRFHDFDHRDRGQYQDHAIDRREGSRPMMGDHRDGQHYGDDRHGHGGPPERHGRDSRDGWGG
YGSDKRLSEGRGLPPPPRGGRDWGEHNQRLEEHQARAWQGAMDAGAASREHARWQGGERGLSGPSGPGHMASRGGVAGRGGFAQGGHSQG

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

>49426_49426_5_LONP1-SAFB2_LONP1_chr19_5705783_ENST00000593119_SAFB2_chr19_5600271_ENST00000252542_length(amino acids)=825AA_BP=0
MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLRGPVITALTPMTIPDVFPHLPLIAITRNPVFPRFIKIIEVKNKKLVELLR
RKVRLAQPYVGVFLKRDDSNESDVVESLDEIYHTGTFAQIHEMQDLGDKLRMIVMGHRRVHISRQLEVEPEEPEAENKHKPRRKSKRGKK
EAEDELSARHPAELAMEPTPELPAEVLMVEVENVVHEDFQVTEEVKALTAEIVKTIRDIIALNPLYRESVLQMMQAGQRVVDNPIYLSDM
GAALTGAESHELQDVLEETNIPKRLYKALSLLKKEFELSKLQQRLGREVEEKIKQTHRKYLLQEQLKIIKKELGLEKDDKDAIEEKFRER
LKELVVPKHVMDVVDEELSKLGLLDNHSSEFKTVIKKEEKIEKKEEKKPEDIKKEEKDQDELKPGPTNRSRVTKSGSRGMERTVVMDKSK
GEPVISVKTTSRSKERSSKSQDRKSESKEKRDILSFDKIKEQRERERQRQREREIRETERRREREQREREQRLEAFHERKEKARLQRERL
QLECQRQRLERERMERERLERERMRVERERRKEQERIHREREELRRQQEQLRYEQERRPGRRPYDLDRRDDAYWPEGKRVAMEDRYRADF
PRPDHRFHDFDHRDRGQYQDHAIDRREGSRPMMGDHRDGQHYGDDRHGHGGPPERHGRDSRDGWGGYGSDKRLSEGRGLPPPPRGGRDWG
EHNQRLEEHQARAWQGAMDAGAASREHARWQGGERGLSGPSGPGHMASRGGVAGRGGFAQGGHSQGHVVPGGGLEGGGVASQDRGSRVPH

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

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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/chr19:5598804/chr19:5708414)
- 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
LONP1

P36776

.
FUNCTION: ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters (PubMed:12198491, PubMed:15870080, PubMed:17420247, PubMed:8248235). Endogenous substrates include mitochondrial steroidogenic acute regulatory (StAR) protein, helicase Twinkle (TWNK) and the large ribosomal subunit protein bL32m. bL32m is protected from degradation by LONP1 when it is bound to a nucleic acid (RNA), but TWNK is not (PubMed:17579211, PubMed:28377575). {ECO:0000255|HAMAP-Rule:MF_03120, ECO:0000269|PubMed:12198491, ECO:0000269|PubMed:15870080, ECO:0000269|PubMed:17420247, ECO:0000269|PubMed:17579211, ECO:0000269|PubMed:28377575, ECO:0000269|PubMed:8248235}.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.

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
HgeneLONP1chr19:5705782chr19:5604947ENST00000360614-818124_368455.6666666666667960.0DomainLon N-terminal
HgeneLONP1chr19:5705783chr19:5600271ENST00000360614-818124_368455.6666666666667960.0DomainLon N-terminal
TgeneSAFB2chr19:5705782chr19:5604947ENST00000252542821482_545432.0954.0Compositional biasNote=Lys-rich
TgeneSAFB2chr19:5705782chr19:5604947ENST00000252542821619_724432.0954.0Compositional biasNote=Glu-rich
TgeneSAFB2chr19:5705782chr19:5604947ENST00000252542821621_788432.0954.0Compositional biasNote=Arg-rich
TgeneSAFB2chr19:5705782chr19:5604947ENST00000252542821792_926432.0954.0Compositional biasNote=Gly-rich
TgeneSAFB2chr19:5705783chr19:5600271ENST000002525421021619_724519.6666666666666954.0Compositional biasNote=Glu-rich
TgeneSAFB2chr19:5705783chr19:5600271ENST000002525421021621_788519.6666666666666954.0Compositional biasNote=Arg-rich
TgeneSAFB2chr19:5705783chr19:5600271ENST000002525421021792_926519.6666666666666954.0Compositional biasNote=Gly-rich
TgeneSAFB2chr19:5705782chr19:5604947ENST00000252542821713_730432.0954.0MotifNuclear localization signal
TgeneSAFB2chr19:5705783chr19:5600271ENST000002525421021713_730519.6666666666666954.0MotifNuclear localization signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLONP1chr19:5705782chr19:5604947ENST00000360614-818759_949455.6666666666667960.0DomainLon proteolytic
HgeneLONP1chr19:5705783chr19:5600271ENST00000360614-818759_949455.6666666666667960.0DomainLon proteolytic
HgeneLONP1chr19:5705782chr19:5604947ENST00000360614-818523_530455.6666666666667960.0Nucleotide bindingATP
HgeneLONP1chr19:5705783chr19:5600271ENST00000360614-818523_530455.6666666666667960.0Nucleotide bindingATP
TgeneSAFB2chr19:5705783chr19:5600271ENST000002525421021482_545519.6666666666666954.0Compositional biasNote=Lys-rich
TgeneSAFB2chr19:5705782chr19:5604947ENST0000025254282130_64432.0954.0DomainSAP
TgeneSAFB2chr19:5705782chr19:5604947ENST00000252542821407_485432.0954.0DomainRRM
TgeneSAFB2chr19:5705783chr19:5600271ENST00000252542102130_64519.6666666666666954.0DomainSAP
TgeneSAFB2chr19:5705783chr19:5600271ENST000002525421021407_485519.6666666666666954.0DomainRRM


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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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
LONP1
SAFB2


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


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Related Drugs to LONP1-SAFB2


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 LONP1-SAFB2


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