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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: 38030

FusionGeneSummary for THRA_GSDMA

check button Fusion gene summary
Fusion gene informationFusion gene name: THRA_GSDMA
Fusion gene ID: 38030
HgeneTgene
Gene symbol

THRA

GSDMA

Gene ID

7067

284110

Gene namethyroid hormone receptor alphagasdermin A
SynonymsAR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1FKSG9|GSDM|GSDM1
Cytomap

17q21.1

17q21.1

Type of geneprotein-codingprotein-coding
Descriptionthyroid hormone receptor alphaEAR-7ERBA-related 7V-erbA-related protein 7c-erbA-alphanuclear receptor subfamily 1 group A member 1thyroid hormone receptor alpha 1thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homogasdermin-Agasdermin-1
Modification date2018052320180523
UniProtAcc

P10827

Q96QA5

Ensembl transtripts involved in fusion geneENST00000394121, ENST00000264637, 
ENST00000584985, ENST00000450525, 
ENST00000546243, 
ENST00000301659, 
Fusion gene scores* DoF score11 X 8 X 9=7924 X 2 X 5=40
# samples 155
** MAII scorelog2(15/792*10)=-2.40053792958373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: THRA [Title/Abstract] AND GSDMA [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
HgeneTHRA

GO:0006357

regulation of transcription by RNA polymerase II

18052923

HgeneTHRA

GO:0006366

transcription by RNA polymerase II

8710870|9653119

HgeneTHRA

GO:0009755

hormone-mediated signaling pathway

18052923

HgeneTHRA

GO:0017055

negative regulation of RNA polymerase II transcriptional preinitiation complex assembly

8524305

HgeneTHRA

GO:0045892

negative regulation of transcription, DNA-templated

8710870

HgeneTHRA

GO:2000143

negative regulation of DNA-templated transcription, initiation

8524305

TgeneGSDMA

GO:0006915

apoptotic process

17471240


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
TCGARVGBMTCGA-16-1045-01BTHRAchr17

38233861

+GSDMAchr17

38121936

+
TCGALDOVTCGA-57-1583-01ATHRAchr17

38233861

+GSDMAchr17

38121936

+
* 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
5CDS-5UTRENST00000394121ENST00000301659THRAchr17

38233861

+GSDMAchr17

38121936

+
5CDS-5UTRENST00000264637ENST00000301659THRAchr17

38233861

+GSDMAchr17

38121936

+
5CDS-5UTRENST00000584985ENST00000301659THRAchr17

38233861

+GSDMAchr17

38121936

+
5CDS-5UTRENST00000450525ENST00000301659THRAchr17

38233861

+GSDMAchr17

38121936

+
5CDS-5UTRENST00000546243ENST00000301659THRAchr17

38233861

+GSDMAchr17

38121936

+

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FusionProtFeatures for THRA_GSDMA


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

P10827

GSDMA

Q96QA5

Isoform Alpha-1: Nuclear hormone receptor that can actas a repressor or activator of transcription. High affinityreceptor for thyroid hormones, including triiodothyronine andthyroxine. {ECO:0000269|PubMed:12699376,ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:18237438,ECO:0000269|PubMed:19926848}. Isoform Alpha-2: Does not bind thyroid hormone andfunctions as a weak dominant negative inhibitor of thyroid hormoneaction. {ECO:0000269|PubMed:8910441}. May promote pyroptosis (Probable). Upon cleavage invitro of genetically engineered GSDMA, the released N-terminalmoiety binds to some types of lipids, such as possiblyphosphatidylinositol (4,5)-bisphosphate. Homooligomerizes withinthe membrane and forms pores of 10 -15 nanometers (nm) of innerdiameter, triggering cell death. Also binds to bacterial andmitochondrial lipids, including cardiolipin, and exhibitsbactericidal activity (PubMed:27281216). The physiologicalrelevance of these observations is unknown (Probable).{ECO:0000269|PubMed:27281216, ECO:0000305,ECO:0000305|PubMed:17471240, ECO:0000305|PubMed:27281216}.

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 THRA_GSDMA


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 THRA_GSDMA


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
THRANCOA6, TDG, CCND1, MEF2A, EP300, YWHAQ, ITGB3BP, POU2F1, DAP3, NR0B2, NRIP1, HR, AKAP13, MED12, MED16, MED6, MED24, CDK8, MED21, TRIM24, COPS2, TRIP11, RXRA, MED1, FUS, HDAC3, NCOR1, ZBTB3, SUV39H1, PARP1, NCOA1, NCOA2, NCOA3, TAF11, TAF7, GRIP1, NCOR2, EMD, PRKDC, SMC1A, LIG3, XRCC5, XRCC6, HSPA4, TBL1XR1, GPS2, TBL1X, CUL1, RGN, SEPP1, CDK7, MED25, ARID5A, GTF2B, C1D, THRA, CLIC1, FOXJ1, BUB3, PTGES3, RANBP9, AMOTL2, L3MBTL3, ENO1, MOV10, NXF1, UBE2I, CEP76, TRIM63, A2ML1, HAL, CST6, MTNR1BGSDMAPARK2, SUZ12, IFI16, CEP152, FOXH1, MCM2, ZIC1, TBC1D22B, ZSCAN12, DDX19B, CYLD


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 THRA_GSDMA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTHRAP10827DB00451LevothyroxineThyroid hormone receptor alphasmall moleculeapproved
HgeneTHRAP10827DB00509DextrothyroxineThyroid hormone receptor alphasmall moleculeapproved|investigational
HgeneTHRAP10827DB01118AmiodaroneThyroid hormone receptor alphasmall moleculeapproved|investigational
HgeneTHRAP10827DB00279LiothyronineThyroid hormone receptor alphasmall moleculeapproved|vet_approved

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RelatedDiseases for THRA_GSDMA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTHRAC3280817HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 62UNIPROT
HgeneTHRAC0014175Endometriosis1CTD_human
HgeneTHRAC0019284Diaphragmatic Hernia1CTD_human