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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:BTN3A2_MACF1 (FusionGDB2 ID:HG11118TG23499)

Fusion Gene Summary for BTN3A2_MACF1

check button Fusion gene summary
Fusion gene informationFusion gene name: BTN3A2_MACF1
Fusion gene ID: hg11118tg23499
HgeneTgene
Gene symbol

BTN3A2

MACF1

Gene ID

11118

23499

Gene namebutyrophilin subfamily 3 member A2microtubule actin crosslinking factor 1
SynonymsBT3.2|BTF4|BTN3.2|CD277ABP620|ACF7|KIAA0754|LIS9|Lnc-PMIF|MACF|OFC4
Cytomap

6p22.2

1p34.3

Type of geneprotein-codingprotein-coding
Descriptionbutyrophilin subfamily 3 member A2butyrophilin proteinmicrotubule-actin cross-linking factor 1620 kDa actin binding proteinactin cross-linking family protein 7postulated migration inhibitory factortrabeculin-alpha
Modification date2024040320240407
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000532994, ENST00000356386, 
ENST00000377708, ENST00000396934, 
ENST00000396948, ENST00000508906, 
ENST00000527422, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
3 X 5 X 3=45		* DoF score (Degree of Frequency) = # partners X # break points X # disease types
8 X 38 X 13=3952
# samples 633
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(6/45*10)=0.415037499278844
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(33/3952*10)=-3.58204501733886
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTN3A2 [Title/Abstract] AND MACF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTN3A2(26370831)-MACF1(39920580), # samples:1


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Fusion Gene Breakpoints for BTN3A2_MACF1


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
BTN3A2chr626370831MACF1chr139920580
BTN3A2chr626370831MACF1chr126370831


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 BTN3A2_MACF1


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
TgeneMACF1

GO:0030334

regulation of cell migration

27693509

TgeneMACF1

GO:0043001

Golgi to plasma membrane protein transport

15265687

TgeneMACF1

GO:0045773

positive regulation of axon extension

22705394

TgeneMACF1

GO:0051893

regulation of focal adhesion assembly

27693509


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Fusion Genomic Features for BTN3A2_MACF1


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)
BTN3A2chr626370831+MACF1chr139920580+9.39e-051.00e+00


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).
genomic feature

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Fusion Gene ORF Annotations for BTN3A2_MACF1

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
3UTR-3CDSENST00000532994ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
3UTR-3CDSENST00000532994ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000356386ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000377708ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396934ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000396948ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000508906ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000289893BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000317713BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000361689BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000372915BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000539005BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000545844BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000564288BTN3A2chr6

26370831

+MACF1chr1

39920580

+
Frame-shiftENST00000527422ENST00000567887BTN3A2chr6

26370831

+MACF1chr1

39920580

+

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 BTN3A2_MACF1

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 BTN3A2_MACF1

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 BTN3A2_MACF1

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 BTN3A2_MACF1


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 BTN3A2_MACF1


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBESCATCGA-IG-A97I-01ABTN3A2

chr6

26370831+MACF1

chr1

39920580

+
ChimerDBESCATCGA-IG-A97IBTN3A2

chr6

26370831+MACF1

chr1

26370831

+

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


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Related Drugs for BTN3A2_MACF1


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