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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: 26617

FusionGeneSummary for PDZRN3_THRB

check button Fusion gene summary
Fusion gene informationFusion gene name: PDZRN3_THRB
Fusion gene ID: 26617
HgeneTgene
Gene symbol

PDZRN3

THRB

Gene ID

23024

7068

Gene namePDZ domain containing ring finger 3thyroid hormone receptor beta
SynonymsLNX3|SEMACAP3|SEMCAP3C-ERBA-2|C-ERBA-BETA|ERBA2|GRTH|NR1A2|PRTH|THR1|THRB1|THRB2
Cytomap

3p13

3p24.2

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase PDZRN3RING-type E3 ubiquitin transferase PDZRN3ligand of Numb protein X 3likely ortholog of mouse semaF cytoplasmic domain associated protein 3semaphorin cytoplasmic domain-associated protein 3thyroid hormone receptor betanuclear receptor subfamily 1 group A member 2oncogene ERBA2thyroid hormone nuclear receptor beta variant 1thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
Modification date2018052320180523
UniProtAcc

Q9UPQ7

P10828

Ensembl transtripts involved in fusion geneENST00000263666, ENST00000466780, 
ENST00000308537, ENST00000462146, 
ENST00000535920, ENST00000479530, 
ENST00000466348, 		ENST00000396671, 
ENST00000356447, ENST00000416420, 
ENST00000280696, 
Fusion gene scores* DoF score8 X 4 X 6=1924 X 4 X 4=64
# samples 104
** MAII scorelog2(10/192*10)=-0.941106310946431
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PDZRN3 [Title/Abstract] AND THRB [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

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
TCGARVPRADTCGA-KK-A7B1-01APDZRN3chr3

73651505

-THRBchr3

24378862

-
* 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-5UTRENST00000263666ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-5UTRENST00000263666ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-5UTRENST00000263666ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-intronENST00000263666ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000466780ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000466780ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000466780ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-intronENST00000466780ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-5UTRENST00000308537ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-5UTRENST00000308537ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-5UTRENST00000308537ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
5CDS-intronENST00000308537ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000462146ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000462146ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000462146ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-intronENST00000462146ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000535920ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000535920ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000535920ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-intronENST00000535920ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000479530ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000479530ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000479530ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-intronENST00000479530ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000466348ENST00000396671PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000466348ENST00000356447PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-5UTRENST00000466348ENST00000416420PDZRN3chr3

73651505

-THRBchr3

24378862

-
intron-intronENST00000466348ENST00000280696PDZRN3chr3

73651505

-THRBchr3

24378862

-

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FusionProtFeatures for PDZRN3_THRB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDZRN3

Q9UPQ7

THRB

P10828

E3 ubiquitin-protein ligase. Plays an important role inregulating the surface level of MUSK on myotubes. Mediates theubiquitination of MUSK, promoting its endocytosis and lysosomaldegradation. Might contribute to terminal myogenicdifferentiation. {ECO:0000250|UniProtKB:Q69ZS0}. Nuclear hormone receptor that can act as a repressor oractivator of transcription. High affinity receptor for thyroidhormones, including triiodothyronine and thyroxine.{ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:14673100,ECO:0000269|PubMed:16781732, ECO:0000269|PubMed:17418816,ECO:0000269|PubMed:18237438, ECO:0000269|PubMed:18798561,ECO:0000269|PubMed:19926848}.

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 PDZRN3_THRB


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 PDZRN3_THRB


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
PDZRN3MUSK, UBE2D2, LNX1, LNX2, OIP5, FAM13C, OFD1, SDHA, ZNF785, STX11, POTEB3, FZD4THRBPSMC5, BRD8, NCOA2, NRBF2, NCOA6, RXRA, CCND1, TBL1X, TRIP4, PRMT1, TSG101, TP53, PPARGC1B, PPARGC1A, COPS2, THRB, NCOR2, NCOA1, NR2F6, NCOR1, SRC, LRIF1, PRKDC, SMC1A, PARP1, LIG3, XRCC5, XRCC6, HSPA4, TBL1XR1, HDAC3, GPS2, CAMK2B, NRIP1, HMGN3, NCOA3, RXRG, RXRB, MED21, ROBO4, ANP32A, ATF2, C1D, MMS19, ADAT3, RANBP9, NSD1, UBE2I, ACTA2, ACTBL2, ACTB, PDLIM7, DNM3, NRAS


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 PDZRN3_THRB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTHRBP10828DB00451LevothyroxineThyroid hormone receptor betasmall moleculeapproved
TgeneTHRBP10828DB00509DextrothyroxineThyroid hormone receptor betasmall moleculeapproved|investigational
TgeneTHRBP10828DB01118AmiodaroneThyroid hormone receptor betasmall moleculeapproved|investigational
TgeneTHRBP10828DB00279LiothyronineThyroid hormone receptor betasmall moleculeapproved|vet_approved

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RelatedDiseases for PDZRN3_THRB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDZRN3C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneTHRBC2937288THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT19CTD_human;UNIPROT
TgeneTHRBC1840364THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY3CTD_human;ORPHANET;UNIPROT
TgeneTHRBC2940786Thyroid Hormone Resistance Syndrome2CTD_human;HPO;ORPHANET
TgeneTHRBC0019284Diaphragmatic Hernia1CTD_human
TgeneTHRBC0206682Follicular thyroid carcinoma1CTD_human
TgeneTHRBC0376634Craniofacial Abnormalities1CTD_human