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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:CDK12_PLXDC1 (FusionGDB2 ID:HG51755TG57125)

Fusion Gene Summary for CDK12_PLXDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDK12_PLXDC1
Fusion gene ID: hg51755tg57125
HgeneTgene
Gene symbol

CDK12

PLXDC1

Gene ID

51755

57125

Gene namecyclin dependent kinase 12plexin domain containing 1
SynonymsCRK7|CRKR|CRKRSTEM3|TEM7
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 12CDC2-related protein kinase 7Cdc2-related kinase, arginine/serine-richcell division cycle 2-related protein kinase 7cell division protein kinase 12plexin domain-containing protein 12410003I07Riktumor endothelial marker 3tumor endothelial marker 7
Modification date2024040320240403
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000430627, ENST00000447079, 
ENST00000559545, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
69 X 101 X 27=188163
* DoF score (Degree of Frequency) = # partners X # break points X # disease types
11 X 24 X 9=2376
# samples 14259
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(142/188163*10)=-7.04994822730139
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(59/2376*10)=-2.00974797655156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDK12 [Title/Abstract] AND PLXDC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDK12(37619370)-PLXDC1(37265644), # samples:1


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Fusion Gene Breakpoints for CDK12_PLXDC1


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
CDK12chr1737619370PLXDC1chr1737243955
CDK12chr1737619370PLXDC1chr1737265644
CDK12chr1739463117PLXDC1chr1739087702


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 CDK12_PLXDC1


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

* 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

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

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCDK12

GO:0006366

transcription by RNA polymerase II

22988298

HgeneCDK12

GO:0032968

positive regulation of transcription elongation by RNA polymerase II

22988298

HgeneCDK12

GO:0046777

protein autophosphorylation

11683387


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Fusion Genomic Features for CDK12_PLXDC1


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)
CDK12chr1737619370+PLXDC1chr1737243955-1.02e-061.00e+00
CDK12chr1737619370+PLXDC1chr1737265644-5.05e-091.00e+00
CDK12chr1737619370-PLXDC1chr1737265644-1.01e-039.99e-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 CDK12_PLXDC1

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-5UTRENST00000430627ENST00000394316CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000430627ENST00000394316CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000430627ENST00000444911CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000430627ENST00000444911CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000430627ENST00000493200CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000430627ENST00000493200CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000430627ENST00000539608CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000430627ENST00000539608CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000447079ENST00000394316CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000447079ENST00000394316CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000447079ENST00000444911CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000447079ENST00000444911CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000447079ENST00000493200CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000447079ENST00000493200CDK12chr17

37619370

-PLXDC1chr17

37265644

-
5CDS-5UTRENST00000447079ENST00000539608CDK12chr17

37619370

+PLXDC1chr17

37243955

-
5CDS-5UTRENST00000447079ENST00000539608CDK12chr17

37619370

-PLXDC1chr17

37265644

-
Frame-shiftENST00000430627ENST00000315392CDK12chr17

37619370

+PLXDC1chr17

37243955

-
Frame-shiftENST00000430627ENST00000315392CDK12chr17

37619370

-PLXDC1chr17

37265644

-
Frame-shiftENST00000447079ENST00000315392CDK12chr17

37619370

+PLXDC1chr17

37243955

-
Frame-shiftENST00000447079ENST00000315392CDK12chr17

37619370

-PLXDC1chr17

37265644

-

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

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Fusion Protein Retained/Non-Retained Functional Features for CDK12_PLXDC1

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 CDK12_PLXDC1

check button In-frame Fusion Transcript Sequences.

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

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

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Fusion Protein Sequence for CDK12_PLXDC1

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 CDK12_PLXDC1


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 CDK12_PLXDC1


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBBLCATCGA-ZF-AA4T-01ACDK12

chr17

37619370+PLXDC1

chr17

37243955

-
ChimerDBBLCATCGA-ZF-AA4T-01ACDK12

chr17

37619370-PLXDC1

chr17

37265644

-
ChimerDBBLCATCGA-ZF-AA4T-01ACDK12

chr17

37619370+PLXDC1

chr17

37265644

-
cBioPortalBLCA_TCGA_PAN_CAN_ATLAS_2018BLCATCGA-ZF-AA4T-01CDK12

chr17

39463117PLXDC1

chr17

39087702


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


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Related Drugs for CDK12_PLXDC1


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