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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:RB1-FNDC3A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RB1-FNDC3A
FusionPDB ID: 72560
FusionGDB2.0 ID: 72560
HgeneTgene
Gene symbol

RB1

FNDC3A

Gene ID

5925

22862

Gene nameRB transcriptional corepressor 1fibronectin type III domain containing 3A
SynonymsOSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110FNDC3|HUGO|bA203I16.1|bA203I16.5
Cytomap

13q14.2

13q14.2

Type of geneprotein-codingprotein-coding
Descriptionretinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblasfibronectin type-III domain-containing protein 3Ahuman gene expressed in odontoblasts
Modification date2020032920200313
UniProtAcc

RB1CC1

Q9Y2H6

Ensembl transtripts involved in fusion geneENST idsENST00000267163, ENST00000484879, 
ENST00000398316, ENST00000492622, 
ENST00000541916, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 9 X 13=26919 X 10 X 4=360
# samples 2710
** MAII scorelog2(27/2691*10)=-3.31711107858959
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RB1 [Title/Abstract] AND FNDC3A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FNDC3A(49688867)-RB1(49037867), # samples:2
RB1(48942740)-FNDC3A(49742748), # samples:1
Anticipated loss of major functional domain due to fusion event.FNDC3A-RB1 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.
FNDC3A-RB1 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.
RB1-FNDC3A 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.
RB1-FNDC3A 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.
RB1-FNDC3A 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.
RB1-FNDC3A 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
HgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

HgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

HgeneRB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

25100735


check buttonFusion gene breakpoints across RB1 (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 FNDC3A (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
ChimerDB4OVTCGA-04-1365RB1chr13

48942740

+FNDC3Achr13

49742748

+


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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)
ENST00000267163RB1chr1348942740+ENST00000492622FNDC3Achr1349742748+6209126513838241228
ENST00000267163RB1chr1348942740+ENST00000541916FNDC3Achr1349742748+4804126513838241228
ENST00000267163RB1chr1348942740+ENST00000398316FNDC3Achr1349742748+6023126513838241228

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
ENST00000267163ENST00000492622RB1chr1348942740+FNDC3Achr1349742748+0.0001277590.9998722
ENST00000267163ENST00000541916RB1chr1348942740+FNDC3Achr1349742748+0.000156470.9998435
ENST00000267163ENST00000398316RB1chr1348942740+FNDC3Achr1349742748+0.0001354340.9998646

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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

>72560_72560_1_RB1-FNDC3A_RB1_chr13_48942740_ENST00000267163_FNDC3A_chr13_49742748_ENST00000398316_length(amino acids)=1228AA_BP=375
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGG
YIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSS
ISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLEND
TRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKS
NLDEEVNVIPPHTPVRVQAEYNSIKGTPSEAEIFTTLSCEPDIPNPPRIANRTKNSLTLQWKAPSDNGSKIQNFVLEWDEGKGNGEFCQC
YMGSQKQFKITKLSPAMGCKFRLSARNDYGTSGFSEEVLYYTSGCAPSMPASPVLTKAGITWLSLQWSKPSGTPSDEGISYILEMEEETS
GYGFKPKYDGEDLAYTVKNLRRSTKYKFKVIAYNSEGKSNPSEVVEFTTCPDKPGIPVKPSVKGKIHSHSFKITWDPPKDNGGATINKYV
VEMAEGSNGNKWEMIYSGATREHLCDRLNPGCFYRLRVYCISDGGQSAVSESLLVQTPAVPPGPCLPPRLQGRPKAKEIQLRWGPPLVDG
GSPISCYSVEMSPIEKDEPREVYQGSEVECTVSSLLPGKTYSFRLRAANKMGFGPFSEKCDITTAPGPPDQCKPPQVTCRSATCAQVNWE
VPLSNGTDVTEYRLEWGGVEGSMQICYCGPGLSYEIKGLSPATTYYCRVQALSVVGAGPFSEVVACVTPPSVPGIVTCLQEISDDEIENP
HYSPSTCLAISWEKPCDHGSEILAYSIDFGDKQSLTVGKVTSYIINNLQPDTTYRIRIQALNSLGAGPFSHMIKLKTKPLPPDPPRLECV
AFSHQNLKLKWGEGTPKTLSTDSIQYHLQMEDKNGRFVSLYRGPCHTYKVQRLNESTSYKFCIQACNEAGEGPLSQEYIFTTPKSVPAAL
KAPKIEKVNDHICEITWECLQPMKGDPVIYSLQVMLGKDSEFKQIYKGPDSSFRYSSLQLNCEYRFRVCAIRQCQDSLGHQDLVGPYSTT

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

>72560_72560_2_RB1-FNDC3A_RB1_chr13_48942740_ENST00000267163_FNDC3A_chr13_49742748_ENST00000492622_length(amino acids)=1228AA_BP=375
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGG
YIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSS
ISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLEND
TRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKS
NLDEEVNVIPPHTPVRVQAEYNSIKGTPSEAEIFTTLSCEPDIPNPPRIANRTKNSLTLQWKAPSDNGSKIQNFVLEWDEGKGNGEFCQC
YMGSQKQFKITKLSPAMGCKFRLSARNDYGTSGFSEEVLYYTSGCAPSMPASPVLTKAGITWLSLQWSKPSGTPSDEGISYILEMEEETS
GYGFKPKYDGEDLAYTVKNLRRSTKYKFKVIAYNSEGKSNPSEVVEFTTCPDKPGIPVKPSVKGKIHSHSFKITWDPPKDNGGATINKYV
VEMAEGSNGNKWEMIYSGATREHLCDRLNPGCFYRLRVYCISDGGQSAVSESLLVQTPAVPPGPCLPPRLQGRPKAKEIQLRWGPPLVDG
GSPISCYSVEMSPIEKDEPREVYQGSEVECTVSSLLPGKTYSFRLRAANKMGFGPFSEKCDITTAPGPPDQCKPPQVTCRSATCAQVNWE
VPLSNGTDVTEYRLEWGGVEGSMQICYCGPGLSYEIKGLSPATTYYCRVQALSVVGAGPFSEVVACVTPPSVPGIVTCLQEISDDEIENP
HYSPSTCLAISWEKPCDHGSEILAYSIDFGDKQSLTVGKVTSYIINNLQPDTTYRIRIQALNSLGAGPFSHMIKLKTKPLPPDPPRLECV
AFSHQNLKLKWGEGTPKTLSTDSIQYHLQMEDKNGRFVSLYRGPCHTYKVQRLNESTSYKFCIQACNEAGEGPLSQEYIFTTPKSVPAAL
KAPKIEKVNDHICEITWECLQPMKGDPVIYSLQVMLGKDSEFKQIYKGPDSSFRYSSLQLNCEYRFRVCAIRQCQDSLGHQDLVGPYSTT

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

>72560_72560_3_RB1-FNDC3A_RB1_chr13_48942740_ENST00000267163_FNDC3A_chr13_49742748_ENST00000541916_length(amino acids)=1228AA_BP=375
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGG
YIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSS
ISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLEND
TRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKS
NLDEEVNVIPPHTPVRVQAEYNSIKGTPSEAEIFTTLSCEPDIPNPPRIANRTKNSLTLQWKAPSDNGSKIQNFVLEWDEGKGNGEFCQC
YMGSQKQFKITKLSPAMGCKFRLSARNDYGTSGFSEEVLYYTSGCAPSMPASPVLTKAGITWLSLQWSKPSGTPSDEGISYILEMEEETS
GYGFKPKYDGEDLAYTVKNLRRSTKYKFKVIAYNSEGKSNPSEVVEFTTCPDKPGIPVKPSVKGKIHSHSFKITWDPPKDNGGATINKYV
VEMAEGSNGNKWEMIYSGATREHLCDRLNPGCFYRLRVYCISDGGQSAVSESLLVQTPAVPPGPCLPPRLQGRPKAKEIQLRWGPPLVDG
GSPISCYSVEMSPIEKDEPREVYQGSEVECTVSSLLPGKTYSFRLRAANKMGFGPFSEKCDITTAPGPPDQCKPPQVTCRSATCAQVNWE
VPLSNGTDVTEYRLEWGGVEGSMQICYCGPGLSYEIKGLSPATTYYCRVQALSVVGAGPFSEVVACVTPPSVPGIVTCLQEISDDEIENP
HYSPSTCLAISWEKPCDHGSEILAYSIDFGDKQSLTVGKVTSYIINNLQPDTTYRIRIQALNSLGAGPFSHMIKLKTKPLPPDPPRLECV
AFSHQNLKLKWGEGTPKTLSTDSIQYHLQMEDKNGRFVSLYRGPCHTYKVQRLNESTSYKFCIQACNEAGEGPLSQEYIFTTPKSVPAAL
KAPKIEKVNDHICEITWECLQPMKGDPVIYSLQVMLGKDSEFKQIYKGPDSSFRYSSLQLNCEYRFRVCAIRQCQDSLGHQDLVGPYSTT

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

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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/chr13:49688867/chr13:49037867)
- 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
RB1

RB1CC1

FNDC3A

Q9Y2H6

1594FUNCTION: Mediates spermatid-Sertoli adhesion during spermatogenesis. {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+112710_18375.6666666666667929.0Compositional biasNote=Poly-Ala
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+112720_29375.6666666666667929.0Compositional biasNote=Poly-Pro
TgeneFNDC3Achr13:48942740chr13:49742748ENST000003983166241046_1151289.66666666666671143.0DomainFibronectin type-III 9
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624373_465289.66666666666671143.0DomainFibronectin type-III 2
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624469_562289.66666666666671143.0DomainFibronectin type-III 3
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624566_660289.66666666666671143.0DomainFibronectin type-III 4
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624664_757289.66666666666671143.0DomainFibronectin type-III 5
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624761_851289.66666666666671143.0DomainFibronectin type-III 6
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624861_950289.66666666666671143.0DomainFibronectin type-III 7
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624951_1045289.66666666666671143.0DomainFibronectin type-III 8
TgeneFNDC3Achr13:48942740chr13:49742748ENST000004926228261046_1151345.66666666666671199.0DomainFibronectin type-III 9
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826373_465345.66666666666671199.0DomainFibronectin type-III 2
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826469_562345.66666666666671199.0DomainFibronectin type-III 3
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826566_660345.66666666666671199.0DomainFibronectin type-III 4
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826664_757345.66666666666671199.0DomainFibronectin type-III 5
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826761_851345.66666666666671199.0DomainFibronectin type-III 6
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826861_950345.66666666666671199.0DomainFibronectin type-III 7
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826951_1045345.66666666666671199.0DomainFibronectin type-III 8
TgeneFNDC3Achr13:48942740chr13:49742748ENST000005419168261046_1151345.66666666666671199.0DomainFibronectin type-III 9
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826373_465345.66666666666671199.0DomainFibronectin type-III 2
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826469_562345.66666666666671199.0DomainFibronectin type-III 3
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826566_660345.66666666666671199.0DomainFibronectin type-III 4
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826664_757345.66666666666671199.0DomainFibronectin type-III 5
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826761_851345.66666666666671199.0DomainFibronectin type-III 6
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826861_950345.66666666666671199.0DomainFibronectin type-III 7
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826951_1045345.66666666666671199.0DomainFibronectin type-III 8
TgeneFNDC3Achr13:48942740chr13:49742748ENST000003983166241177_1197289.66666666666671143.0TransmembraneHelical
TgeneFNDC3Achr13:48942740chr13:49742748ENST000004926228261177_1197345.66666666666671199.0TransmembraneHelical
TgeneFNDC3Achr13:48942740chr13:49742748ENST000005419168261177_1197345.66666666666671199.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+1127860_876375.6666666666667929.0MotifBipartite nuclear localization signal
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+1127373_579375.6666666666667929.0RegionNote=Domain A
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+1127373_771375.6666666666667929.0RegionNote=Pocket%3B binds T and E1A
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+1127580_639375.6666666666667929.0RegionNote=Spacer
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+1127640_771375.6666666666667929.0RegionNote=Domain B
TgeneFNDC3Achr13:48942740chr13:49742748ENST0000039831662468_133289.66666666666671143.0Compositional biasNote=Pro-rich
TgeneFNDC3Achr13:48942740chr13:49742748ENST0000049262282668_133345.66666666666671199.0Compositional biasNote=Pro-rich
TgeneFNDC3Achr13:48942740chr13:49742748ENST0000054191682668_133345.66666666666671199.0Compositional biasNote=Pro-rich
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000398316624268_369289.66666666666671143.0DomainFibronectin type-III 1
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000492622826268_369345.66666666666671199.0DomainFibronectin type-III 1
TgeneFNDC3Achr13:48942740chr13:49742748ENST00000541916826268_369345.66666666666671199.0DomainFibronectin type-III 1


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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
RB1
FNDC3A


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
HgeneRB1chr13:48942740chr13:49742748ENST00000267163+1127763_928375.6666666666667929.0LIMD1


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Related Drugs to RB1-FNDC3A


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 RB1-FNDC3A


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