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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:CTNNB1-TCOF1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CTNNB1-TCOF1
FusionPDB ID: 20336
FusionGDB2.0 ID: 20336
HgeneTgene
Gene symbol

CTNNB1

TCOF1

Gene ID

1499

6949

Gene namecatenin beta 1treacle ribosome biogenesis factor 1
SynonymsCTNNB|EVR7|MRD19|NEDSDV|armadilloMFD1|TCS|TCS1|treacle
Cytomap

3p22.1

5q32-q33.1

Type of geneprotein-codingprotein-coding
Descriptioncatenin beta-1catenin (cadherin-associated protein), beta 1, 88kDatreacle proteinTreacher Collins syndrome proteinTreacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoprotein
Modification date2020032720200313
UniProtAcc

P35222

.
Ensembl transtripts involved in fusion geneENST idsENST00000349496, ENST00000396183, 
ENST00000396185, ENST00000405570, 
ENST00000453024, ENST00000471014, 
ENST00000394269, ENST00000504761, 
ENST00000506063, ENST00000513346, 
ENST00000323668, ENST00000377797, 
ENST00000439160, ENST00000445265, 
ENST00000451292, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 14 X 13=345813 X 11 X 9=1287
# samples 2115
** MAII scorelog2(21/3458*10)=-4.04147663597616
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1287*10)=-3.10097764772482
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CTNNB1 [Title/Abstract] AND TCOF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CTNNB1(41281934)-TCOF1(149777917), # samples:1
Anticipated loss of major functional domain due to fusion event.CTNNB1-TCOF1 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.
CTNNB1-TCOF1 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.
CTNNB1-TCOF1 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.
CTNNB1-TCOF1 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.
CTNNB1-TCOF1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CTNNB1-TCOF1 seems lost the major protein functional domain in Hgene partner, which is a CGC 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
HgeneCTNNB1

GO:0000209

protein polyubiquitination

29374064

HgeneCTNNB1

GO:0008285

negative regulation of cell proliferation

12970740

HgeneCTNNB1

GO:0030997

regulation of centriole-centriole cohesion

18086858

HgeneCTNNB1

GO:0032355

response to estradiol

15304487

HgeneCTNNB1

GO:0033234

negative regulation of protein sumoylation

22155184

HgeneCTNNB1

GO:0043065

positive regulation of apoptotic process

12651860|12970740

HgeneCTNNB1

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

29374064

HgeneCTNNB1

GO:0043525

positive regulation of neuron apoptotic process

19591802

HgeneCTNNB1

GO:0045893

positive regulation of transcription, DNA-templated

12970740|18787224

HgeneCTNNB1

GO:0045944

positive regulation of transcription by RNA polymerase II

9065402|11751639|12651860|14660579|18193033

HgeneCTNNB1

GO:0060070

canonical Wnt signaling pathway

10644691|12937339|19187541

HgeneCTNNB1

GO:0071681

cellular response to indole-3-methanol

10868478

HgeneCTNNB1

GO:0090279

regulation of calcium ion import

19996314

HgeneCTNNB1

GO:1904798

positive regulation of core promoter binding

22723415

HgeneCTNNB1

GO:2000008

regulation of protein localization to cell surface

19996314


check buttonFusion gene breakpoints across CTNNB1 (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 TCOF1 (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
ChimerDB4LUSCTCGA-L3-A524-01ACTNNB1chr3

41281934

-TCOF1chr5

149777917

+


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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)
ENST00000396183CTNNB1chr341281934-ENST00000451292TCOF1chr5149777917+391332682852630781
ENST00000396183CTNNB1chr341281934-ENST00000377797TCOF1chr5149777917+391332682852630781
ENST00000396183CTNNB1chr341281934-ENST00000445265TCOF1chr5149777917+389832682852630781
ENST00000396183CTNNB1chr341281934-ENST00000323668TCOF1chr5149777917+391432682852630781
ENST00000396183CTNNB1chr341281934-ENST00000439160TCOF1chr5149777917+364832682852630781
ENST00000396185CTNNB1chr341281934-ENST00000451292TCOF1chr5149777917+400133562142559781
ENST00000396185CTNNB1chr341281934-ENST00000377797TCOF1chr5149777917+400133562142559781
ENST00000396185CTNNB1chr341281934-ENST00000445265TCOF1chr5149777917+398633562142559781
ENST00000396185CTNNB1chr341281934-ENST00000323668TCOF1chr5149777917+400233562142559781
ENST00000396185CTNNB1chr341281934-ENST00000439160TCOF1chr5149777917+373633562142559781

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
ENST00000396183ENST00000451292CTNNB1chr341281934-TCOF1chr5149777917+0.000904240.9990958
ENST00000396183ENST00000377797CTNNB1chr341281934-TCOF1chr5149777917+0.000904240.9990958
ENST00000396183ENST00000445265CTNNB1chr341281934-TCOF1chr5149777917+0.0008900720.9991099
ENST00000396183ENST00000323668CTNNB1chr341281934-TCOF1chr5149777917+0.0009113430.99908864
ENST00000396183ENST00000439160CTNNB1chr341281934-TCOF1chr5149777917+0.0012752570.99872476
ENST00000396185ENST00000451292CTNNB1chr341281934-TCOF1chr5149777917+0.0009395880.99906045
ENST00000396185ENST00000377797CTNNB1chr341281934-TCOF1chr5149777917+0.0009395880.99906045
ENST00000396185ENST00000445265CTNNB1chr341281934-TCOF1chr5149777917+0.0009284750.9990715
ENST00000396185ENST00000323668CTNNB1chr341281934-TCOF1chr5149777917+0.0009485640.9990514
ENST00000396185ENST00000439160CTNNB1chr341281934-TCOF1chr5149777917+0.0013411440.9986589

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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

>20336_20336_1_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396183_TCOF1_chr5_149777917_ENST00000323668_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_2_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396183_TCOF1_chr5_149777917_ENST00000377797_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_3_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396183_TCOF1_chr5_149777917_ENST00000439160_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_4_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396183_TCOF1_chr5_149777917_ENST00000445265_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_5_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396183_TCOF1_chr5_149777917_ENST00000451292_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_6_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396185_TCOF1_chr5_149777917_ENST00000323668_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_7_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396185_TCOF1_chr5_149777917_ENST00000377797_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_8_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396185_TCOF1_chr5_149777917_ENST00000439160_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_9_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396185_TCOF1_chr5_149777917_ENST00000445265_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

>20336_20336_10_CTNNB1-TCOF1_CTNNB1_chr3_41281934_ENST00000396185_TCOF1_chr5_149777917_ENST00000451292_length(amino acids)=781AA_BP=
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTR
AQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPALVKMLGSPVDSVLFYAITTLHNLLLHQEGAK
MAVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCAAGILSNLTCNNYKNKMMVCQVGGIEALVRT
VLRAGDREDITEPAICALRHLTSRHQEAEMAQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFVQLLYSPIENIQRVAAGVLCELAQDKEAAEA
IEAEGATAPLTELLHSRNEGVATYAAAVLFRMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH

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

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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/chr3:41281934/chr5:149777917)
- 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
CTNNB1

P35222

.
FUNCTION: Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity). {ECO:0000250|UniProtKB:Q02248, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423, ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938}.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
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515151_1911149.6666666666667782.0RepeatNote=ARM 1
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515193_2341149.6666666666667782.0RepeatNote=ARM 2
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515235_2761149.6666666666667782.0RepeatNote=ARM 3
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515277_3181149.6666666666667782.0RepeatNote=ARM 4
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515319_3601149.6666666666667782.0RepeatNote=ARM 5
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515361_3891149.6666666666667782.0RepeatNote=ARM 6
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515400_4411149.6666666666667782.0RepeatNote=ARM 7
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515442_4841149.6666666666667782.0RepeatNote=ARM 8
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515489_5301149.6666666666667782.0RepeatNote=ARM 9
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515531_5711149.6666666666667782.0RepeatNote=ARM 10
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515594_6361149.6666666666667782.0RepeatNote=ARM 11
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000349496-1515637_6661149.6666666666667782.0RepeatNote=ARM 12
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616151_191994.3333333333334911.3333333333334RepeatNote=ARM 1
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616193_234994.3333333333334911.3333333333334RepeatNote=ARM 2
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616235_276994.3333333333334911.3333333333334RepeatNote=ARM 3
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616277_318994.3333333333334911.3333333333334RepeatNote=ARM 4
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616319_360994.3333333333334911.3333333333334RepeatNote=ARM 5
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616361_389994.3333333333334911.3333333333334RepeatNote=ARM 6
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616400_441994.3333333333334911.3333333333334RepeatNote=ARM 7
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616442_484994.3333333333334911.3333333333334RepeatNote=ARM 8
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616489_530994.3333333333334911.3333333333334RepeatNote=ARM 9
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616531_571994.3333333333334911.3333333333334RepeatNote=ARM 10
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616594_636994.3333333333334911.3333333333334RepeatNote=ARM 11
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396183-1616637_666994.3333333333334911.3333333333334RepeatNote=ARM 12
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616151_1911047.3333333333333988.0RepeatNote=ARM 1
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616193_2341047.3333333333333988.0RepeatNote=ARM 2
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616235_2761047.3333333333333988.0RepeatNote=ARM 3
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616277_3181047.3333333333333988.0RepeatNote=ARM 4
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616319_3601047.3333333333333988.0RepeatNote=ARM 5
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616361_3891047.3333333333333988.0RepeatNote=ARM 6
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616400_4411047.3333333333333988.0RepeatNote=ARM 7
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616442_4841047.3333333333333988.0RepeatNote=ARM 8
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616489_5301047.3333333333333988.0RepeatNote=ARM 9
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616531_5711047.3333333333333988.0RepeatNote=ARM 10
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616594_6361047.3333333333333988.0RepeatNote=ARM 11
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000396185-1616637_6661047.3333333333333988.0RepeatNote=ARM 12
TgeneTCOF1chr3:41281934chr5:149777917ENST0000032366822261452_14631370.33333333333331517.3333333333333Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000032366822261475_14821370.33333333333331517.3333333333333Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000037779723271452_14631448.33333333333331584.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000037779723271475_14821448.33333333333331584.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000003942690181362_13660959.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000003942690181452_14630959.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000003942690181475_14820959.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST00000394269018204_2070959.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST00000394269018693_6960959.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000039426901889_970959.0Compositional biasNote=Poly-Glu
TgeneTCOF1chr3:41281934chr5:149777917ENST00000394269018996_10010959.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000043916022261452_14631410.33333333333331482.6666666666667Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000043916022261475_14821410.33333333333331482.6666666666667Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000044526522261452_14631371.33333333333331511.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000044526522261475_14821371.33333333333331511.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000050476123261452_14631447.33333333333331489.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST0000050476123261475_14821447.33333333333331489.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000003942690186_380959.0DomainLisH

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116151_1910782.0RepeatNote=ARM 1
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116193_2340782.0RepeatNote=ARM 2
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116235_2760782.0RepeatNote=ARM 3
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116277_3180782.0RepeatNote=ARM 4
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116319_3600782.0RepeatNote=ARM 5
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116361_3890782.0RepeatNote=ARM 6
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116400_4410782.0RepeatNote=ARM 7
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116442_4840782.0RepeatNote=ARM 8
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116489_5300782.0RepeatNote=ARM 9
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116531_5710782.0RepeatNote=ARM 10
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116594_6360782.0RepeatNote=ARM 11
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116637_6660782.0RepeatNote=ARM 12
TgeneTCOF1chr3:41281934chr5:149777917ENST0000032366822261362_13661370.33333333333331517.3333333333333Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000003236682226204_2071370.33333333333331517.3333333333333Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST000003236682226693_6961370.33333333333331517.3333333333333Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST00000323668222689_971370.33333333333331517.3333333333333Compositional biasNote=Poly-Glu
TgeneTCOF1chr3:41281934chr5:149777917ENST000003236682226996_10011370.33333333333331517.3333333333333Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000037779723271362_13661448.33333333333331584.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000003777972327204_2071448.33333333333331584.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST000003777972327693_6961448.33333333333331584.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST00000377797232789_971448.33333333333331584.0Compositional biasNote=Poly-Glu
TgeneTCOF1chr3:41281934chr5:149777917ENST000003777972327996_10011448.33333333333331584.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000043916022261362_13661410.33333333333331482.6666666666667Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000004391602226204_2071410.33333333333331482.6666666666667Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST000004391602226693_6961410.33333333333331482.6666666666667Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST00000439160222689_971410.33333333333331482.6666666666667Compositional biasNote=Poly-Glu
TgeneTCOF1chr3:41281934chr5:149777917ENST000004391602226996_10011410.33333333333331482.6666666666667Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000044526522261362_13661371.33333333333331511.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000004452652226204_2071371.33333333333331511.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST000004452652226693_6961371.33333333333331511.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST00000445265222689_971371.33333333333331511.0Compositional biasNote=Poly-Glu
TgeneTCOF1chr3:41281934chr5:149777917ENST000004452652226996_10011371.33333333333331511.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000050476123261362_13661447.33333333333331489.0Compositional biasNote=Poly-Lys
TgeneTCOF1chr3:41281934chr5:149777917ENST000005047612326204_2071447.33333333333331489.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST000005047612326693_6961447.33333333333331489.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST00000504761232689_971447.33333333333331489.0Compositional biasNote=Poly-Glu
TgeneTCOF1chr3:41281934chr5:149777917ENST000005047612326996_10011447.33333333333331489.0Compositional biasNote=Poly-Ser
TgeneTCOF1chr3:41281934chr5:149777917ENST0000032366822266_381370.33333333333331517.3333333333333DomainLisH
TgeneTCOF1chr3:41281934chr5:149777917ENST0000037779723276_381448.33333333333331584.0DomainLisH
TgeneTCOF1chr3:41281934chr5:149777917ENST0000043916022266_381410.33333333333331482.6666666666667DomainLisH
TgeneTCOF1chr3:41281934chr5:149777917ENST0000044526522266_381371.33333333333331511.0DomainLisH
TgeneTCOF1chr3:41281934chr5:149777917ENST0000050476123266_381447.33333333333331489.0DomainLisH


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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
CTNNB1
TCOF1


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
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116156_1780782.0BCL9
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-116772_7810782.0SCRIB
HgeneCTNNB1chr3:41281934chr5:149777917ENST00000405570-1162_230782.0VCL


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Related Drugs to CTNNB1-TCOF1


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 CTNNB1-TCOF1


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