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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 37487

FusionGeneSummary for TBL1XR1_RET

check button Fusion gene summary
Fusion gene informationFusion gene name: TBL1XR1_RET
Fusion gene ID: 37487
HgeneTgene
Gene symbol

TBL1XR1

RET

Gene ID

79718

5979

Gene nametransducin beta like 1 X-linked receptor 1ret proto-oncogene
SynonymsC21|DC42|IRA1|MRD41|TBLR1CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1
Cytomap

3q26.32

10q11.21

Type of geneprotein-codingprotein-coding
DescriptionF-box-like/WD repeat-containing protein TBL1XR1TBL1-related protein 1nuclear receptor co-repressor/HDAC3 complex subunitnuclear receptor corepressor/HDAC3 complex subunit TBLR1proto-oncogene tyrosine-protein kinase receptor RetRET receptor tyrosine kinasecadherin family member 12cadherin-related family member 16proto-oncogene c-Retrearranged during transfectionret proto-oncogene (multiple endocrine neoplasia and medullary
Modification date2018052320180527
UniProtAcc

Q9BZK7

P07949

Ensembl transtripts involved in fusion geneENST00000430069, ENST00000457928, 
ENST00000355710, ENST00000340058, 
Fusion gene scores* DoF score24 X 9 X 12=259218 X 10 X 7=1260
# samples 2465
** MAII scorelog2(24/2592*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(65/1260*10)=-0.954912110471462
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBL1XR1 [Title/Abstract] AND RET [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Kinase involved fusion gene, inframe and retained kinase domain.
* 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
HgeneTBL1XR1

GO:0000122

negative regulation of transcription by RNA polymerase II

12628926

HgeneTBL1XR1

GO:0045893

positive regulation of transcription, DNA-templated

18193033

HgeneTBL1XR1

GO:0045944

positive regulation of transcription by RNA polymerase II

18193033

TgeneRET

GO:0030155

regulation of cell adhesion

21357690

TgeneRET

GO:0030335

positive regulation of cell migration

20702524

TgeneRET

GO:0033619

membrane protein proteolysis

21357690

TgeneRET

GO:0033630

positive regulation of cell adhesion mediated by integrin

20702524

TgeneRET

GO:0035860

glial cell-derived neurotrophic factor receptor signaling pathway

28953886

TgeneRET

GO:0043410

positive regulation of MAPK cascade

28846099


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVTHCATCGA-ET-A40R-01ATBL1XR1chr3

176765088

-RETchr10

43612032

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000430069ENST00000355710TBL1XR1chr3

176765088

-RETchr10

43612032

+
In-frameENST00000430069ENST00000340058TBL1XR1chr3

176765088

-RETchr10

43612032

+
Frame-shitENST00000457928ENST00000355710TBL1XR1chr3

176765088

-RETchr10

43612032

+
Frame-shitENST00000457928ENST00000340058TBL1XR1chr3

176765088

-RETchr10

43612032

+

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FusionProtFeatures for TBL1XR1_RET


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBL1XR1

Q9BZK7

RET

P07949

F-box-like protein involved in the recruitment of theubiquitin/19S proteasome complex to nuclear receptor-regulatedtranscription units. Plays an essential role in transcriptionactivation mediated by nuclear receptors. Probably acts asintegral component of the N-Cor corepressor complex that mediatesthe recruitment of the 19S proteasome complex, leading to thesubsequent proteasomal degradation of N-Cor complex, therebyallowing cofactor exchange, and transcription activation.{ECO:0000269|PubMed:14980219}. Receptor tyrosine-protein kinase involved in numerouscellular mechanisms including cell proliferation, neuronalnavigation, cell migration, and cell differentiation upon bindingwith glial cell derived neurotrophic factor family ligands.Phosphorylates PTK2/FAK1. Regulates both cell death/survivalbalance and positional information. Required for the molecularmechanisms orchestration during intestine organogenesis; involvedin the development of enteric nervous system and renalorganogenesis during embryonic life, and promotes the formation ofPeyer's patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via itscleavage by caspase in sympathetic neurons and mediates cellmigration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner.Involved in the development of the neural crest. Active in theabsence of ligand, triggering apoptosis through a mechanism thatrequires receptor intracellular caspase cleavage. Acts as adependence receptor; in the presence of the ligand GDNF insomatotrophs (within pituitary), promotes survival and downregulates growth hormone (GH) production, but triggers apoptosisin absence of GDNF. Regulates nociceptor survival and size.Triggers the differentiation of rapidly adapting (RA)mechanoreceptors. Mediator of several diseases such asneuroendocrine cancers; these diseases are characterized byaberrant integrins-regulated cell migration. Mediates, throughinteraction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which induces inhibition of food-intake. Activates MAPK- and AKT-signaling pathways(PubMed:28846097, PubMed:28953886, PubMed:28846099). Isoform 1 incomplex with GFRAL induces higher activation of MAPK-signalingpathway than isoform 2 in complex with GFRAL (PubMed:28846099).{ECO:0000269|PubMed:20064382, ECO:0000269|PubMed:20616503,ECO:0000269|PubMed:20702524, ECO:0000269|PubMed:21357690,ECO:0000269|PubMed:21454698, ECO:0000269|PubMed:28846097,ECO:0000269|PubMed:28846099, ECO:0000269|PubMed:28953886}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916108_118288515Compositional biasNote=Poly-Ala
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916108_118288515Compositional biasNote=Poly-Ala
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-91641_86288515DomainNote=F-box-like
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-9164_36288515DomainLisH
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-91641_86288515DomainNote=F-box-like
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-9164_36288515DomainLisH
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916167_206288515RepeatNote=WD 1
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916223_262288515RepeatNote=WD 2
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916167_206288515RepeatNote=WD 1
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916223_262288515RepeatNote=WD 2
TgeneRETchr3:176765088chr10:43612032ENST00000340058+1019724_10167121073DomainProtein kinase
TgeneRETchr3:176765088chr10:43612032ENST00000355710+1020724_10167121115DomainProtein kinase
TgeneRETchr3:176765088chr10:43612032ENST00000340058+1019730_7387121073Nucleotide bindingATP
TgeneRETchr3:176765088chr10:43612032ENST00000355710+1020730_7387121115Nucleotide bindingATP
TgeneRETchr3:176765088chr10:43612032ENST00000340058+1019805_8077121073RegionNote=Inhibitors binding
TgeneRETchr3:176765088chr10:43612032ENST00000355710+1020805_8077121115RegionNote=Inhibitors binding

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916264_303288515RepeatNote=WD 3
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916306_344288515RepeatNote=WD 4
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916347_386288515RepeatNote=WD 5
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916389_437288515RepeatNote=WD 6
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916440_479288515RepeatNote=WD 7
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000430069-916481_513288515RepeatNote=WD 8
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916264_303288515RepeatNote=WD 3
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916306_344288515RepeatNote=WD 4
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916347_386288515RepeatNote=WD 5
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916389_437288515RepeatNote=WD 6
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916440_479288515RepeatNote=WD 7
HgeneTBL1XR1chr3:176765088chr10:43612032ENST00000457928-916481_513288515RepeatNote=WD 8
TgeneRETchr3:176765088chr10:43612032ENST00000340058+1019168_2727121073DomainCadherin
TgeneRETchr3:176765088chr10:43612032ENST00000355710+1020168_2727121115DomainCadherin
TgeneRETchr3:176765088chr10:43612032ENST00000340058+101929_6357121073Topological domainExtracellular
TgeneRETchr3:176765088chr10:43612032ENST00000340058+1019658_11147121073Topological domainCytoplasmic
TgeneRETchr3:176765088chr10:43612032ENST00000355710+102029_6357121115Topological domainExtracellular
TgeneRETchr3:176765088chr10:43612032ENST00000355710+1020658_11147121115Topological domainCytoplasmic
TgeneRETchr3:176765088chr10:43612032ENST00000340058+1019636_6577121073TransmembraneHelical
TgeneRETchr3:176765088chr10:43612032ENST00000355710+1020636_6577121115TransmembraneHelical


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FusionGeneSequence for TBL1XR1_RET


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000355710_chr10_43612032_+_691aa
MSISSDEVNFLVTRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQTVEAEVSINEDGTLFDGRPIESLSLIDAVMPD
VVQTRQQATRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV
SDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSTDGFARIWTKDGNLASTLGQHKGPIF
ALKWNKKGNFILSAGVDKEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNH
PHVIKLTGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQTLAEMKLVHRD
LAARNILVAEGRKMKISDFGLSRDVTEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPTPGIPPERLFNLL
KTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLITDDGLSEEETPLVDCNNAPLPRALPS

>In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000340058_chr10_43612032_+_649aa
MSISSDEVNFLVTRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQTVEAEVSINEDGTLFDGRPIESLSLIDAVMPD
VVQTRQQATRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV
SDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSTDGFARIWTKDGNLASTLGQHKGPIF
ALKWNKKGNFILSAGVDKEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNH
PHVIKLTGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQTLAEMKLVHRD
LAARNILVAEGRKMKISDFGLSRDVTEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPTPGIPPERLFNLL
KTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLITDDGLSEEETPLVDCNNAPLPRALPS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000355710_chr10_43612032_+_2073nt
ATGAGTATAAGCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATA
GAAAGCCATATCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTA
GAAGCAGAAGTTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGAT
GTAGTACAAACAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAA
CAAGGATCTGCAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAA
GTGGATGGGGATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTT
AGTGATCTCCTAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTA
CTTAGACATTGTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTA
GCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTT
GCATTAAAATGGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTG
GTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACG
GTGGCCGTGAAGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCAC
CCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGC
TTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGG
GCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGAC
TTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCC
TACGTGAAGAGGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTA
TGGTCTTTTGGTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTG
AAGACCGGCCACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAA
AGGCCGGTGTTTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCT
GACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCC
ACATGGATTGAAAACAAACTCTATGGCATGTCAGACCCGAACTGGCCTGGAGAGAGTCCTGTACCACTCACGAGAGCTGATGGCACTAAC
ACTGGGTTTCCAAGATATCCAAATGATAGTGTATATGCTAACTGGATGCTTTCACCCTCAGCGGCAAAATTAATGGACACGTTTGATAGT

>In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000340058_chr10_43612032_+_1947nt
ATGAGTATAAGCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATA
GAAAGCCATATCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTA
GAAGCAGAAGTTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGAT
GTAGTACAAACAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAA
CAAGGATCTGCAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAA
GTGGATGGGGATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTT
AGTGATCTCCTAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTA
CTTAGACATTGTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTA
GCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTT
GCATTAAAATGGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTG
GTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACG
GTGGCCGTGAAGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCAC
CCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGC
TTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGG
GCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGAC
TTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCC
TACGTGAAGAGGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTA
TGGTCTTTTGGTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTG
AAGACCGGCCACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAA
AGGCCGGTGTTTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCT
GACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000355710_chr10_43612032_+_4415nt
GCGCGGCAGCCGGGCCTTGCTCCGGGACGTGTTTATTTGTAACTTAGTGCTTTTTATCGTCTTAAGGAGGTATTTGGTGGAGGCTCTTTG
AAGTTGGGTTCAGGAGTGTAGAATTGGCAAAGTTATTGCCAGCTTCCTGCATCAACAACAGCAACTTGTGATTGGCGGTGACCGGATATT
CAGTTGCACATCCCCACATCAATGCACTGCCAATGGGTTATATCCTGTGTTGTGACCTCATGGTTTAAGTGGGAATAAAGATGAGTATAA
GCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATAGAAAGCCATA
TCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTAGAAGCAGAAG
TTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGATGTAGTACAAA
CAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAACAAGGATCTG
CAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAAGTGGATGGGG
ATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTTAGTGATCTCC
TAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTACTTAGACATT
GTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTAGCAACTGGTT
CCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTTGCATTAAAAT
GGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAA
AAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGA
AGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCA
TCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCG
AGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCA
TGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGACTTGGCAGCCA
GAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGA
GGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTATGGTCTTTTG
GTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTGAAGACCGGCC
ACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAAAGGCCGGTGT
TTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCTGACTCCCTGA
TTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACATGGATTG
AAAACAAACTCTATGGCATGTCAGACCCGAACTGGCCTGGAGAGAGTCCTGTACCACTCACGAGAGCTGATGGCACTAACACTGGGTTTC
CAAGATATCCAAATGATAGTGTATATGCTAACTGGATGCTTTCACCCTCAGCGGCAAAATTAATGGACACGTTTGATAGTTAACATTTCT
TTGTGAAAGGTAATGGACTCACAAGGGGAAGAAACATGCTGAGAATGGAAAGTCTACCGGCCCTTTCTTTGTGAACGTCACATTGGCCGA
GCCGTGTTCAGTTCCCAGGTGGCAGACTCGTTTTTGGTAGTTTGTTTTAACTTCCAAGGTGGTTTTACTTCTGATAGCCGGTGATTTTCC
CTCCTAGCAGACATGCCACACCGGGTAAGAGCTCTGAGTCTTAGTGGTTAAGCATTCCTTTCTCTTCAGTGCCCAGCAGCACCCAGTGTT
GGTCTGTGTCCATCAGTGACCACCAACATTCTGTGTTCACATGTGTGGGTCCAACACTTACTACCTGGTGTATGAAATTGGACCTGAACT
GTTGGATTTTTCTAGTTGCCGCCAAACAAGGCAAAAAAATTTAAACATGAAGCACACACACAAAAAAGGCAGTAGGAAAAATGCTGGCCC
TGATGACCTGTCCTTATTCAGAATGAGAGACTGCGGGGGGGGCCTGGGGGTAGTGTCAATGCCCCTCCAGGGCTGGAGGGGAAGAGGGGC
CCCGAGGATGGGCCTGGGCTCAGCATTCGAGATCTTGAGAATGATTTTTTTTAAATCATGCAACCTTTCCTTAGGAAGACATTTGGTTTT
CATCATGATTAAGATGATTCCTAGATTTAGCACAATGGAGAGATTCCATGCCATCTTTACTATGTGGATGGTGGTATCAGGGAAGAGGGC
TCACAAGACACATTTGTCCCCCGGGCCCACCACATCATCCTCACGTGTTCGGTACTGAGCAGCCACTACCCCTGATGAGAACAGTATGAA
GAAAGGGGGCTGTTGGAGTCCCAGAATTGCTGACAGCAGAGGCTTTGCTGCTGTGAATCCCACCTGCCACCAGCCTGCAGCACACCCCAC
AGCCAAGTAGAGGCGAAAGCAGTGGCTCATCCTACCTGTTAGGAGCAGGTAGGGCTTGTACTCACTTTAATTTGAATCTTATCAACTTAC
TCATAAAGGGACAGGCTAGCTAGCTGTGTTAGAAGTAGCAATGACAATGACCAAGGACTGCTACACCTCTGATTACAATTCTGATGTGAA
AAAGATGGTGTTTGGCTCTTATAGAGCCTGTGTGAAAGGCCCATGGATCAGCTCTTCCTGTGTTTGTAATTTAATGCTGCTACAAGATGT
TTCTGTTTCTTAGATTCTGACCATGACTCATAAGCTTCTTGTCATTCTTCATTGCTTGTTTGTGGTCACAGATGCACAACACTCCTCCAG
TCTTGTGGGGGCAGCTTTTGGGAAGTCTCAGCAGCTCTTCTGGCTGTGTTGTCAGCACTGTAACTTCGCAGAAAAGAGTCGGATTACCAA
AACACTGCCTGCTCTTCAGACTTAAAGCACTGATAGGACTTAAAATAGTCTCATTCAAATACTGTATTTTATATAGGCATTTCACAAAAA
CAGCAAAATTGTGGCATTTTGTGAGGCCAAGGCTTGGATGCGTGTGTAATAGAGCCTTGTGGTGTGTGCGCACACACCCAGAGGGAGAGT
TTGAAAAATGCTTATTGGACACGTAACCTGGCTCTAATTTGGGCTGTTTTTCAGATACACTGTGATAAGTTCTTTTACAAATATCTATAG
ACATGGTAAACTTTTGGTTTTCAGATATGCTTAATGATAGTCTTACTAAATGCAGAAATAAGAATAAACTTTCTCAAATTATTAAAAATG
CCTACACAGTAAGTGTGAATTGCTGCAACAGGTTTGTTCTCAGGAGGGTAAGAACTCCAGGTCTAAACAGCTGACCCAGTGATGGGGAAT
TTATCCTTGACCAATTTATCCTTGACCAATAACCTAATTGTCTATTCCTGAGTTATAAAAGTCCCCATCCTTATTAGCTCTACTGGAATT
TTCATACACGTAAATGCAGAAGTTACTAAGTATTAAGTATTACTGAGTATTAAGTAGTAATCTGTCAGTTATTAAAATTTGTAAAATCTA
TTTATGAAAGGTCATTAAACCAGATCATGTTCCTTTTTTTGTAATCAAGGTGACTAAGAAAATCAGTTGTGTAAATAAAATCATGTATCA

>In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000340058_chr10_43612032_+_2957nt
GCGCGGCAGCCGGGCCTTGCTCCGGGACGTGTTTATTTGTAACTTAGTGCTTTTTATCGTCTTAAGGAGGTATTTGGTGGAGGCTCTTTG
AAGTTGGGTTCAGGAGTGTAGAATTGGCAAAGTTATTGCCAGCTTCCTGCATCAACAACAGCAACTTGTGATTGGCGGTGACCGGATATT
CAGTTGCACATCCCCACATCAATGCACTGCCAATGGGTTATATCCTGTGTTGTGACCTCATGGTTTAAGTGGGAATAAAGATGAGTATAA
GCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATAGAAAGCCATA
TCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTAGAAGCAGAAG
TTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGATGTAGTACAAA
CAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAACAAGGATCTG
CAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAAGTGGATGGGG
ATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTTAGTGATCTCC
TAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTACTTAGACATT
GTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTAGCAACTGGTT
CCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTTGCATTAAAAT
GGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAA
AAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGA
AGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCA
TCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCG
AGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCA
TGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGACTTGGCAGCCA
GAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGA
GGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTATGGTCTTTTG
GTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTGAAGACCGGCC
ACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAAAGGCCGGTGT
TTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCTGACTCCCTGA
TTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACATGGATTG
AAAACAAACTCTATGGTAGAATTTCCCATGCATTTACTAGATTCTAGCACCGCTGTCCCCTTTGCACTATCCTTCCTCTCTGTGATGCTT
TTTAAAAATGTTTCTGGTCTGAACAAAACCAAAGTCTGCTCTGAACCTTTTTATTTGTAAATGTCTGACTTTGCATCCAGTTTACATTTA
GGCATTATTGCAACTATGTTTTTCTAAAAGGATGTGAAAATAAGTGTAATTACCACATTGCCCAGCAACTTAGGATGGTAGAGGAAAAAA
CAGATCAGGGCGGAACTCTCAGGGGAGACCAAGAACAGGTTGAATAAGGCGCTTCTGGGGTGGGAATCAAGTCATAGTACTTCTACTTTA
ACTAAGTGGATAAATATACAAATCTGGGGAGGTATTCAGTTGAGAAAGGAGCCACCAGCACCACTCAGCCTGCACTGGGAGCACAGCCAG
GTTCCCCCAGACCCCTCCTGGGCAGGCAGGTGCCTCTCAGAGGCCACCCGGCACTGGCGAGCAGCCACTGGCCAAGCCTCAGCCCCAGTC
CCAGCCACATGTCCTCCATCAGGGGTAGCGAGGTTGCAGGAGCTGGCTGGCCCTGGGAGGACGCACCCCCACTGCTGTTTTCACATCCTT
TCCCTTACCCACCTTCAGGACGGTTGTCACTTATGAAGTCAGTGCTAAAGCTGGAGCAGTTGCTTTTTGAAAGAACATGGTCTGTGGTGC


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FusionGenePPI for TBL1XR1_RET


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
TBL1XR1NCOR1, HIST2H4A, HIST2H2BE, HDAC3, TBL1X, SKI, UBE2E3, EMD, THRA, THRB, BCL3, HDAC5, PSMA3, SOX2, ELAVL1, UBE2D1, CTNNB1, TAB2, AR, ESR1, RARA, CHD4, CD2BP2, NOTCH1, KDM1A, GPS2, HDAC1, HDAC4, HDAC7, ABCF1, IRS4, ARL2, RNF2, SIRT6, QPRT, FKBP6, TTC29, TSC22D4, ACTL6A, EIF2A, NHP2L1, PPIF, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3, NTRK1, NINL, XPO1, FOXK1, FOXK2, UBE2I, TBL1Y, NCAPH2, MKX, IL17RA, HAO2, USP44, TRIM25RETSTAT3, DOK6, DOK5, SRC, SHC1, PTPRF, DOK2, DOK4, DOK1, GRB2, CRK, PLCG1, PDLIM7, GRB7, FRS2, NRTN, GFRA1, GRB10, IKBKG, MCRS1, CBL, CBLC, RET, HSP90AA1, NOTCH2NL, NOTCH3, AIP, EGFR, NTRK1, ZBTB48, HNRNPD, SORT1, SYNCRIP, SGTB, BAG6, HIST1H3A, KYNU, TXNL4A, ZCCHC8, ICE2, MAPK3, PTK2, MAPK1, PTPRR, DUSP26


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TBL1XR1_RET


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRETP07949DB05294VandetanibProto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305}small moleculeapproved
TgeneRETP07949DB08896RegorafenibProto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305}small moleculeapproved
TgeneRETP07949DB00398SorafenibProto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305}small moleculeapproved|investigational
TgeneRETP07949DB08875CabozantinibProto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305}small moleculeapproved|investigational
TgeneRETP07949DB08901PonatinibProto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305}small moleculeapproved|investigational

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RelatedDiseases for TBL1XR1_RET


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBL1XR1C0345967Malignant mesothelioma1CTD_human
HgeneTBL1XR1C1865644Plantar Lipomatosis, Unusual Facies, and Developmental Delay1UNIPROT
TgeneRETC3888239HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 115UNIPROT
TgeneRETC0025268Multiple Endocrine Neoplasia Type 2a14CTD_human;ORPHANET;UNIPROT
TgeneRETC1833921Familial medullary thyroid carcinoma14CTD_human;ORPHANET;UNIPROT
TgeneRETC0025269Multiple Endocrine Neoplasia Type 2b8CTD_human;ORPHANET;UNIPROT
TgeneRETC1275808Congenital central hypoventilation4CTD_human;ORPHANET;UNIPROT
TgeneRETC0009404Colorectal Neoplasms2CTD_human
TgeneRETC0019569Hirschsprung Disease2CTD_human;HPO;ORPHANET
TgeneRETC0006413Burkitt Lymphoma1CTD_human
TgeneRETC0027662Multiple Endocrine Neoplasia1CTD_human
TgeneRETC0031511Pheochromocytoma1CTD_human;HPO;UNIPROT
TgeneRETC0038220Status Epilepticus1CTD_human
TgeneRETC0040136Thyroid Neoplasm1CTD_human
TgeneRETC0206693Medullary carcinoma1CTD_human
TgeneRETC0238462Medullary carcinoma of thyroid1CTD_human;HPO
TgeneRETC0740340Amyloidosis, Familial1CTD_human
TgeneRETC1609433Congenital absence of kidneys syndrome1CTD_human;ORPHANET