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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene Breakpoints

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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Geness

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Fusion Genomic Features

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Fusion Gene ORF Annotations

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Fusion Protein Retained/Non-Retained Functional Features

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Fusion Transcript Sequences

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Fusion Protein Sequences

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Personalized Fusion Protein Sequences

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Fusion Gene Expressed Samples

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Related Drugs

Fusion gene:PAX8_ZNF512 (FusionGDB2 ID:HG7849TG84450)

Fusion Gene Summary for PAX8_ZNF512

check button Fusion gene summary
Fusion gene informationFusion gene name: PAX8_ZNF512
Fusion gene ID: hg7849tg84450
HgeneTgene
Gene symbol

PAX8

ZNF512

Gene ID

7849

84450

Gene namepaired box 8zinc finger protein 512
SynonymsPAX-8-
Cytomap

2q14.1

2p23.3

Type of geneprotein-codingprotein-coding
Descriptionpaired box protein Pax-8paired domain gene 8zinc finger protein 512
Modification date2024030520240305
UniProtAcc

Q06710

.
Ensembl transtripts involved in fusion geneENST00000263334, ENST00000263335, 
ENST00000348715, ENST00000397647, 
ENST00000429538, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
26 X 60 X 13=20280		* DoF score (Degree of Frequency) = # partners X # break points X # disease types
3 X 14 X 7=294
# samples 9712
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(97/20280*10)=-4.38592909481621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(12/294*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PAX8 [Title/Abstract] AND ZNF512 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPAX8(114035946)-ZNF512(27820933), # samples:1


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Fusion Gene Breakpoints for PAX8_ZNF512


check button RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section.
HgeneHchrHbpTgeneTchrTbp
PAX8chr2114035946ZNF512chr2114035946
PAX8chr2114035947ZNF512chr227820934


check button DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section.
HgeneHchrHbpTgeneTchrTbpSV type


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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for PAX8_ZNF512


check button To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence.
* We have 10 tumorigenic mechanism categories of fusion genes as shown below.
Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand FusionsAberrant Chimeric Transcription Factor / Fusion Transcription Factor ActivityEpigenetic Reprogramming / Histone Modifier DysregulationChromatin Remodeling DysregulationCondensate-Driven Transcriptional Rewiring / LLPPromoter / Enhancer HijackingDominant-Negative AntagonismCell Cycle / Checkpoint Bypass / RNA Processing DysregulationSubcellular Mislocalization / Spatial DysregulationNuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade

* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.
Fusion Gene NameMechanism CategoryMechanism PubMedTumorigenic ScenariosTumorigenic Scenario PubMedTargeting PointsTargeting PubMedMechanism BackgroundMechanism Background PubMed
PAX8-ZNF512
Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity
M2		PAX8 Mullerian/thyroid transcription factor couples to ZNF512 zinc-finger factor, establishing an aberrant hyper-activated transactivation complex driving epithelial cancers.Transcriptional CDK inhibitors; epigenetic modulatorsOvarian clear cell carcinoma, thyroid cancer, and renal cell carcinoma

* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.
Fusion Gene NameMechanism CategoryMechanism PubMedTumorigenic ScenariosTumorigenic Scenario PubMedTargeting PointsTargeting PubMedMechanism BackgroundMechanism Background PubMed
PAX8-ZNF512
Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity		PAX8 Mullerian/thyroid transcription factor couples to ZNF512 zinc-finger factor, establishing an aberrant hyper-activated transactivation complex driving epithelial cancers.Transcriptional CDK inhibitors; epigenetic modulatorsOvarian clear cell carcinoma, thyroid cancer, and renal cell carcinoma

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAX8

Q06710

.

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePAX8

GO:0006351

DNA-templated transcription

9590296

HgenePAX8

GO:0045893

positive regulation of DNA-templated transcription

9388203|15356023|15961562

HgenePAX8

GO:0045944

positive regulation of transcription by RNA polymerase II

9388203

HgenePAX8

GO:0071371

cellular response to gonadotropin stimulus

15961562


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Fusion Genomic Features for PAX8_ZNF512


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of In-frame fusion genes. FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PAX8chr2114035946-ZNF512chr227820933+1.54e-039.98e-01


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5UTR-3CSD fusion genes (N-truncated cases).
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence) of 5CDS-3UTR fusion genes (C-truncated cases).
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF).

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Fusion Gene ORF Annotations for PAX8_ZNF512

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-3UTRENST00000263334ENST00000494548PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-3UTRENST00000263335ENST00000494548PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-3UTRENST00000348715ENST00000494548PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-3UTRENST00000397647ENST00000494548PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-3UTRENST00000429538ENST00000494548PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000263334ENST00000413371PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000263334ENST00000416005PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000263334ENST00000556601PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000263335ENST00000413371PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000263335ENST00000416005PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000263335ENST00000556601PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000348715ENST00000413371PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000348715ENST00000416005PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000348715ENST00000556601PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000397647ENST00000413371PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000397647ENST00000416005PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000397647ENST00000556601PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000429538ENST00000413371PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000429538ENST00000416005PAX8chr2

114035946

-ZNF512chr2

27820933

+
5CDS-5UTRENST00000429538ENST00000556601PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000263334ENST00000355467PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000263334ENST00000379717PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000263335ENST00000355467PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000263335ENST00000379717PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000348715ENST00000355467PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000348715ENST00000379717PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000397647ENST00000355467PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000397647ENST00000379717PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000429538ENST00000355467PAX8chr2

114035946

-ZNF512chr2

27820933

+
Frame-shiftENST00000429538ENST00000379717PAX8chr2

114035946

-ZNF512chr2

27820933

+

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)		Seq length
(peptide)

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)		Seq length
(peptide)

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)		Seq length
(peptide)

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.
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins).
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score

check buttonDeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins).
HenstTenstHgeneHchrHbpTgeneTchrTbpNo-coding scoreCoding score
ENST00000263334ENST00000494548PAX8chr2114035946ZNF512chr2278209330.00e+009.88e-01
ENST00000263335ENST00000494548PAX8chr2114035946ZNF512chr2278209330.00e+005.12e-01
ENST00000348715ENST00000494548PAX8chr2114035946ZNF512chr2278209330.00e+005.12e-01
ENST00000397647ENST00000494548PAX8chr2114035946ZNF512chr2278209330.00e+005.12e-01
ENST00000429538ENST00000494548PAX8chr2114035946ZNF512chr2278209330.00e+007.06e-01

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Fusion Protein Retained/Non-Retained Functional Features for PAX8_ZNF512

check buttonProtein Level Annotation from FGviewer
* Retention 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.
fgviewer annotation
- In-frame and retained protein feature among the 13 regional features (visualization across fusion protein length).
No matching images found for ${hg}_${tg}.

- In-frame and retained protein feature among the 13 regional features (texts).
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


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


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


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Fusion Transcript Sequence for PAX8_ZNF512

check button In-frame Fusion Transcript Sequences.

check button N-Truncated Transcript (5UTR-3CDS) Sequences

check button C-Truncated Transcript (5CDS-3UTR) Sequences
>PAX8_ZNF512_ENST00000263334_ENST00000494548_114035946_27820933 length=25nt
Breakpoint=25nt
ATGCCTCACAACTCCATCAGATCTG

>PAX8_ZNF512_ENST00000263335_ENST00000494548_114035946_27820933 length=181nt
Breakpoint=181nt
TTCAGAAGGAGGAGAGACACCGGGCCCAGGGCACCCTCGCGGGCGGACCCAACCAGTGAGGGCCTGCAGCCGGCCGGCCAGGGCAGCGGCAGGCGCGGCCCGGACCTACGGGAGGAAGCCCCGAGCCCTCGGCGGGCTGCGAGCGACTCC
CCGGCGATGCCTCACAACTCCATCAGATCTG

>PAX8_ZNF512_ENST00000348715_ENST00000494548_114035946_27820933 length=181nt
Breakpoint=181nt
TTCAGAAGGAGGAGAGACACCGGGCCCAGGGCACCCTCGCGGGCGGACCCAACCAGTGAGGGCCTGCAGCCGGCCGGCCAGGGCAGCGGCAGGCGCGGCCCGGACCTACGGGAGGAAGCCCCGAGCCCTCGGCGGGCTGCGAGCGACTCC
CCGGCGATGCCTCACAACTCCATCAGATCTG

>PAX8_ZNF512_ENST00000397647_ENST00000494548_114035946_27820933 length=181nt
Breakpoint=181nt
TTCAGAAGGAGGAGAGACACCGGGCCCAGGGCACCCTCGCGGGCGGACCCAACCAGTGAGGGCCTGCAGCCGGCCGGCCAGGGCAGCGGCAGGCGCGGCCCGGACCTACGGGAGGAAGCCCCGAGCCCTCGGCGGGCTGCGAGCGACTCC
CCGGCGATGCCTCACAACTCCATCAGATCTG

>PAX8_ZNF512_ENST00000429538_ENST00000494548_114035946_27820933 length=220nt
Breakpoint=220nt
ATAAAACCGGTCGGTGATGCCGGGTGGATGGGAACAAACTTCAGAAGGAGGAGAGACACCGGGCCCAGGGCACCCTCGCGGGCGGACCCAACCAGTGAGGGCCTGCAGCCGGCCGGCCAGGGCAGCGGCAGGCGCGGCCCGGACCTACGG
GAGGAAGCCCCGAGCCCTCGGCGGGCTGCGAGCGACTCCCCGGCGATGCCTCACAACTCCATCAGATCTG


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Fusion Protein Sequence for PAX8_ZNF512

check button In-frame Fusion Protein Sequences.

check button N-Truncated Protein (5UTR-3CDS) Sequences

check button C-Truncated Protein (5CDS-3UTR) Sequences

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Personalized Fusion Protein Sequence for PAX8_ZNF512


check button TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences
NumGene GroupDomain LociFusion Protein IDFusion Gene NamePartnerMutated Residue in WT ProteinSeq. LengthMutated Residue in Fusion Protein

check button CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

NumGene GroupDomain LociFusion Protein IDFusion Gene NamePartnerMutated Residue in WT ProteinSeq. LengthMutated Residue in Fusion Protein

check button TCGA All Mutated Fusion Protein Sequences


Fusion Protein IDSample IDMutated PartnerAAchange in WTSeq. LengthAAchange in Fusion

check button CCLE All Mutated Fusion Protein Sequences


Fusion Protein IDSample IDMutated PartnerAAchange in WTSeq. LengthAAchange in Fusion

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Fusion Gene Exprssed Samples for PAX8_ZNF512


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBOVTCGA-10-0928-01APAX8

chr2

114035946-ZNF512

chr2

114035946

+
WashUOVTCGA-10-0928-01APAX8

chr2

114035947-ZNF512

chr2

27820934

+

check buttonDNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrandSV type


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Related Drugs for PAX8_ZNF512


check button PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug']
* For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub.
PMIDFusion Gene NameDrugStudy Title

check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status