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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 39776

FusionGeneSummary for TSHR_GTF2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: TSHR_GTF2A1
Fusion gene ID: 39776
HgeneTgene
Gene symbol

TSHR

GTF2A1

Gene ID

7253

2957

Gene namethyroid stimulating hormone receptorgeneral transcription factor IIA subunit 1
SynonymsCHNG1|LGR3|hTSHR-ITF2A1|TFIIA|TFIIA-42|TFIIAL
Cytomap

14q31.1

14q31.1

Type of geneprotein-codingprotein-coding
Descriptionthyrotropin receptorTSH receptorseven transmembrane helix receptorthyrotropin receptor-I, hTSHR-Itranscription initiation factor IIA subunit 1TFIIA alpha, p55TFIIA alpha/beta subunitsgeneral transcription factor IIA 1general transcription factor IIA, 1, 19/37kDaglucose regulated protein, 58kD pseudogenetranscription initiation factor TFIIA 42 k
Modification date2018052320180523
UniProtAcc

P16473

P52655

Ensembl transtripts involved in fusion geneENST00000541158, ENST00000342443, 
ENST00000298171, ENST00000554263, 
ENST00000554435, ENST00000557096, 
ENST00000553612, ENST00000434192, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: TSHR [Title/Abstract] AND GTF2A1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneGTF2A1

GO:0006366

transcription by RNA polymerase II

7724559|7958900


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
TCGALDTHCATCGA-EL-A3GR-01ATSHRchr14

81422194

+GTF2A1chr14

81670448

-
* 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
Frame-shiftENST00000541158ENST00000553612TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000541158ENST00000434192TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000342443ENST00000553612TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000342443ENST00000434192TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000298171ENST00000553612TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000298171ENST00000434192TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000554263ENST00000553612TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000554263ENST00000434192TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000554435ENST00000553612TSHRchr14

81422194

+GTF2A1chr14

81670448

-
Frame-shiftENST00000554435ENST00000434192TSHRchr14

81422194

+GTF2A1chr14

81670448

-
3UTR-3CDSENST00000557096ENST00000553612TSHRchr14

81422194

+GTF2A1chr14

81670448

-
3UTR-3CDSENST00000557096ENST00000434192TSHRchr14

81422194

+GTF2A1chr14

81670448

-

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FusionProtFeatures for TSHR_GTF2A1


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

P16473

GTF2A1

P52655

TFIIA is a component of the transcription machinery ofRNA polymerase II and plays an important role in transcriptionalactivation. TFIIA in a complex with TBP mediates transcriptionalactivity. {ECO:0000269|PubMed:11030333,ECO:0000269|PubMed:16537915}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TSHR_GTF2A1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TSHR_GTF2A1


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
TSHRFLNB, CANX, HSPA5, JAK2, JAK1, STAT3, FN1, SCRIB, ADRB2, IQGAP2, SALL2, CAMK2D, POTEF, PC, PTK7, TUBA1A, CBWD1, MOCOS, ITPA, STIL, SAMD1, LAMA3, BORA, FBXO7, TRMT44, GOLGA2, CALR, MLF1, TUBA4AGTF2A1TBPL1, NCOA6, TBP, GTF2F1, GTF2E1, GTF2E2, BCL3, TAF1, HMGB1, GCN1L1, GTF2A2, TAF4, HSPA9, TAF6, TAF5, DOCK7, CNOT1, TBPL2, HNRNPA1, MYLK2, KDM5B, MKX, CREB1, TERF2, SIRT1, ZEB1, TAF4B, LMNA, BOP1, GARS, GORASP2, ATG7, ATP6V1C1, BLMH, FAM129B, SARS, SNX6, ME1, PDIA6, RDX, RPUSD2, TBCD, UGDH, HUWE1, NFYA, SHMT2, CUEDC2, C17orf62, INPPL1, PTCD2, PTMA, EWSR1, BCAT1


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 TSHR_GTF2A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTSHRP16473DB00024Thyrotropin AlfaThyrotropin receptorbiotechapproved|vet_approved

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RelatedDiseases for TSHR_GTF2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTSHRC1836706Hyperthyroidism, Nonautoimmune22CTD_human;ORPHANET;UNIPROT
HgeneTSHRC3493776HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 112ORPHANET;UNIPROT
HgeneTSHRC0020550Hyperthyroidism3CTD_human;HPO
HgeneTSHRC0018213Graves Disease2CTD_human
HgeneTSHRC0040136Thyroid Neoplasm2CTD_human
HgeneTSHRC0001430Adenoma1CTD_human
HgeneTSHRC0001624Adrenal Gland Neoplasms1CTD_human
HgeneTSHRC0010308Congenital Hypothyroidism1CTD_human;HPO
HgeneTSHRC0024121Lung Neoplasms1CTD_human
HgeneTSHRC0024232Lymphatic Metastasis1CTD_human
HgeneTSHRC0040156Thyrotoxicosis1CTD_human
HgeneTSHRC0920350Autoimmune thyroiditis1CTD_human
HgeneTSHRC1863959Hyperthyroidism, Familial Gestational1CTD_human;ORPHANET;UNIPROT