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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:CMTR1_ZFAND3 (FusionGDB2 ID:HG23070TG60685)

Fusion Gene Summary for CMTR1_ZFAND3

check button Fusion gene summary
Fusion gene informationFusion gene name: CMTR1_ZFAND3
Fusion gene ID: hg23070tg60685
HgeneTgene
Gene symbol

CMTR1

ZFAND3

Gene ID

23070

60685

Gene namecap methyltransferase 1zinc finger AN1-type containing 3
SynonymsFTSJD2|KIAA0082|MTr1|hMTr1TEX27
Cytomap

6p21.2

6p21.2

Type of geneprotein-codingprotein-coding
Descriptioncap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1FtsJ methyltransferase domain containing 2ISG95S-adenosyl-L-methionine-dependent methyltransferase FTSJD2cap1 2'O-ribose methyltransferase 1ftsJ methyltransferase domain-containing protein 2intAN1-type zinc finger protein 3testis expressed sequence 27testis-expressed protein 27zinc finger, AN1-type domain 3
Modification date2024041120240305
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000373451, ENST00000493656, 
ENST00000493656, ENST00000373451, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
6 X 10 X 9=540
* DoF score (Degree of Frequency) = # partners X # break points X # disease types
7 X 26 X 20=3640
# samples 1035
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(10/540*10)=-2.43295940727611
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(35/3640*10)=-3.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CMTR1 [Title/Abstract] AND ZFAND3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCMTR1(37445415)-ZFAND3(38120010), # samples:1


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Fusion Gene Breakpoints for CMTR1_ZFAND3


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
CMTR1chr637445415ZFAND3chr637445415
CMTR1chr637445415ZFAND3chr638120011
CMTR1chr637477639ZFAND3chr638152235


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
CMTR1chr637446182ZFAND3chr638084520DEL


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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for CMTR1_ZFAND3


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
CMTR1-ZFAND3
Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity
M2
CMTR1 promoter drives high ZFAND3 zinc-finger expression, facilitating nuclear invasion-associated gene transcription in glioblastoma.Transcriptional CDK9 inhibitors; BET bromodomain inhibitorsGlioblastoma multiforme and invasive cancers

* 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
CMTR1-ZFAND3
Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity
M2
Evidence level: Indirect gene evidence; Confidence: Medium; PMID: 33311477; Title: AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion.CMTR1 promoter drives high ZFAND3 zinc-finger expression, facilitating nuclear invasion-associated gene transcription in glioblastoma.Evidence level: Indirect gene evidence; Confidence: Medium; PMID: 33311477; Title: AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion.Transcriptional CDK9 inhibitors; BET bromodomain inhibitorsGlioblastoma multiforme and invasive cancersEvidence level: Indirect gene evidence; Confidence: Medium; PMID: 33311477; Title: AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion.

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
HgeneCMTR1

GO:0006370

7-methylguanosine mRNA capping

21310715

HgeneCMTR1

GO:0016556

mRNA modification

20713356


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Fusion Genomic Features for CMTR1_ZFAND3


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)
CMTR1chr637445415+ZFAND3chr638120010+2.04e-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 CMTR1_ZFAND3

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-3UTRENST00000373451ENST00000463847CMTR1chr6

37445415

+ZFAND3chr6

38120010

+
Frame-shiftENST00000373451ENST00000287218CMTR1chr6

37445415

+ZFAND3chr6

38120010

+
Frame-shiftENST00000373451ENST00000373391CMTR1chr6

37445415

+ZFAND3chr6

38120010

+

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
ENST00000373451ENST00000463847CMTR1chr637445415ZFAND3chr6381200100.00e+003.08e-02

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Fusion Protein Retained/Non-Retained Functional Features for CMTR1_ZFAND3

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 CMTR1_ZFAND3

check button In-frame Fusion Transcript Sequences.

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

check button C-Truncated Transcript (5CDS-3UTR) Sequences
>CMTR1_ZFAND3_ENST00000373451_ENST00000463847_37445415_38120010 length=2317nt
Breakpoint=2317nt
CGCAGTACTGGACCCGAGCGCGACGGTGCGGCTGGCGGACCCGGGCTGGCTTGTGGGGAAACGAAACTGAGGGAGGAGGCGGCGGCTCTGGCAGCGGCGGCGACAGTGTCGGCCTGACCCCCCCTCCGCTCCCCGGCAGCTCGCTCTCTC
CCCTCAGCTTAACGATGAAGAGGAGAACTGACCCAGAATGCACTGCCCCCATCAAGAAACAGAAAAAAAGAGTTGCAGAGCTTGCCCTGAGCCTCAGCTCCACGTCCGATGATGAACCTCCCTCCTCTGTCAGTCATGGAGCAAAAGCAT
CTACTACAAGCCTTAGTGGGTCTGATAGTGAGACCGAGGGGAAACAACACAGCTCTGACTCTTTTGACGATGCATTCAAAGCAGACTCTCTTGTGGAAGGAACTTCTTCTCGCTATTCCATGTATAATAGCGTCTCCCAGAAGCTTATGG
CCAAGATGGGCTTCAGGGAAGGTGAAGGATTGGGTAAATACAGCCAGGGTCGGAAGGACATCGTTGAGGCTTCCAGTCAGAAAGGTCGAAGAGGCTTGGGTCTGACACTCCGGGGCTTTGACCAGGAGCTGAACGTGGACTGGCGAGATG
AGCCAGAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGAGAAAGATGATTATTGAAGATGAAACAGAGTTTTGTGGGGAAGAGCTGC
TTCACAGTGTGTTGCAGTGTAAGAGCGTGTTTGATGTCTTGGATGGGGAAGAGATGCGGCGAGCTCGGACTCGGGCCAATCCCTATGAGATGATCCGAGGAGTCTTCTTTCTAAACAGGGCAGCAATGAAGATGGCTAACATGGATTTTG
TATTTGATCGCATGTTCACAAATCCGCGGGACTCTTATGGGAAGCCACTGGTGAAGGACCGGGAAGCTGAGCTTCTGTACTTTGCTGATGTCTGCGCAGGCCCAGGTGGCTTCTCAGAGTATGTGCTGTGGAGGAAGAAGTGGCATGCAA
AGGGCTTTGGAATGACTTTGAAGGGCCCTAATGACTTCAAGCTGGAGGACTTCTACTCTGCTTCCAGTGAACTCTTCGAACCCTACTATGGTGAGGGTGGGATTGATGGAGATGGAGATATCACCCGCCCAGAGAACATCTCTGCTTTTC
GGAATTTTGTCCTGGATAACACAGATCGCAAGGGTGTCCATTTTCTGATGGCTGATGGGGGTTTCTCGGTGGAGGGGCAGGAGAACCTGCAGGAGATCCTCAGCAAGCAGCTGCTTCTGTGTCAGTTCCTCATGGCGCTGTCCATTGTCC
GGACAGGAGGCCACTTCATCTGTAAAACCTTTGACCTGTTCACACCGTTTAGTGTGGGGCTTGTCTACCTGCTGTACTGCTGCTTTGAACGAGTTTGTCTCTTCAAGCCTATTACCAGCCGTCCTGCCAACTCAGAGAGGTATGTGGTGT
GCAAGGGCCTGAAGGTGGGCATAGATGATGTTCGGGATTACCTCTTCGCAGTGAATATTAAACTCAATCAGCTGCGGAACACGGATTCCGACGTCAACTTGGTGGTCCCCCTGGAGGTGATCAAGGGAGACCATGAATTTACTGACTACA
TGATACGGTCCAATGAGAGCCACTGTAGTCTGCAGATCAAAGCTCTGGCGAAAATCCATGCCTTTGTTCAAGACACGACACTGAGTGAGCCTCGACAGGCAGAGATACGGAAGGAGTGCCTCCGACTCTGGGGGATCCCAGACCAGGCTC
GTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGGCACTGAGATTGACATCTTCAGCTACAAGCCCACACTGCTCACCTCTAAAACCCTGGAGAAGATCCGCCCTGTGTTTGACTACCGCTGCATGGTAT
CTGGCAGTGAGCAGAAGTTCCTCATCGGCCTGGGGAAATCCCAGATCTACACATGGGATGGCCGCCAGTCAGACCGCTGGATCAAGCTAGACCTGAAGACAGAGCTGCCCCGGGACACTCTGCTATCTGTGGAAATTGTGCATGAGCTGA
AAGGGGAGGGGAAGGCCCAGAGGAAGATCAGTGCCATCCACATCCTCGATGTCCTTGTGCTGAATGGCACCGACGTTCGGGAGCAGCACTTTAACCAGCGAATTCAGCTTGCCGAGAAATTTGTGAAAGCCGTTTCCAAGCCTAGTCGGC
CCGACATGAATCCCATCAGGGTGAAGGAGGTGTACAGACTGGAAGAGATGGAGAAGATTTTTGTCAG


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Fusion Protein Sequence for CMTR1_ZFAND3

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 CMTR1_ZFAND3


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 CMTR1_ZFAND3


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBTHCATCGA-DE-A4MA-01ACMTR1

chr6

37445415+ZFAND3

chr6

37445415

+
WashUTHCATCGA-DE-A4MA-01ACMTR1

chr6

37445415+ZFAND3

chr6

38120011

+
cBioPortalTHCA_TCGA_PAN_CAN_ATLAS_2018THPATCGA-DE-A4MA-01CMTR1

chr6

37477639ZFAND3

chr6

38152235


check buttonDNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrandSV type
dbVarnstd151Unknown_CellCMTR1

chr6

37446182ZFAND3

chr6

38084520

DEL


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Related Drugs for CMTR1_ZFAND3


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