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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:CERS5_LIMA1 (FusionGDB2 ID:HG91012TG51474)

Fusion Gene Summary for CERS5_LIMA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CERS5_LIMA1
Fusion gene ID: hg91012tg51474
HgeneTgene
Gene symbol

CERS5

LIMA1

Gene ID

91012

51474

Gene nameceramide synthase 5LIM domain and actin binding 1
SynonymsLASS5|Trh4EPLIN|LDLCQ8|SREBP3
Cytomap

12q13.12

12q13.12

Type of geneprotein-codingprotein-coding
Descriptionceramide synthase 5LAG1 homolog, ceramide synthase 5LAG1 longevity assurance homolog 5TRAM homolog 4sphingoid base N-palmitoyltransferase CERS5sphingosine N-acyltransferase CERS5LIM domain and actin-binding protein 1epithelial protein lost in neoplasm betasterol regulatory element binding protein 3
Modification date2024040320240407
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000317551, ENST00000422340, 
ENST00000547852, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
11 X 12 X 9=1188
* DoF score (Degree of Frequency) = # partners X # break points X # disease types
7 X 36 X 12=3024
# samples 1101418
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(110/1188*10)=-0.111031312388744
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(1418/3024*10)=2.22932748790581
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CERS5 [Title/Abstract] AND LIMA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCERS5(50560883)-LIMA1(50575817), # samples:4

check buttonFusion gene breakpoints across CERS5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across LIMA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Fusion Gene Breakpoints for CERS5_LIMA1


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
CERS5chr1250560883LIMA1chr1250575820
CERS5chr1250528328LIMA1chr1250599851
CERS5chr1250560884LIMA1chr1250575820
CERS5chr1250528329LIMA1chr1250599851
CERS5chr1250535225LIMA1chr1250622981
CERS5chr1250524603LIMA1chr1250614687
CERS5chr1250528329LIMA1chr1250625493
CERS5chr1250167101LIMA1chr1250182037


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 CERS5_LIMA1


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
HgeneCERS5

GO:0046513

ceramide biosynthetic process

16951403|29632068

TgeneLIMA1

GO:0030835

negative regulation of actin filament depolymerization

12566430

TgeneLIMA1

GO:0031529

ruffle organization

12566430

TgeneLIMA1

GO:0051017

actin filament bundle assembly

12566430


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Fusion Genomic Features for CERS5_LIMA1


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)
CERS5chr1250528328-LIMA1chr1250599851-1.02e-081.00e+00
CERS5chr1250560883-LIMA1chr1250575817-1.09e-161.00e+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 CERS5_LIMA1

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-5UTRENST00000317551ENST00000552008CERS5chr12

50528328

-LIMA1chr12

50599851

-
5CDS-5UTRENST00000422340ENST00000552008CERS5chr12

50528328

-LIMA1chr12

50599851

-
5UTR-3CDSENST00000422340ENST00000341247CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000422340ENST00000394943CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000422340ENST00000547825CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000422340ENST00000552491CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000422340ENST00000552783CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000422340ENST00000552823CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000422340ENST00000552909CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000341247CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000394943CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000547825CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000552491CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000552783CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000552823CERS5chr12

50560883

-LIMA1chr12

50575817

-
5UTR-3CDSENST00000547852ENST00000552909CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000341247CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000394943CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000547825CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000552491CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000552783CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000552823CERS5chr12

50560883

-LIMA1chr12

50575817

-
In-frameENST00000317551ENST00000552909CERS5chr12

50560883

-LIMA1chr12

50575817

-

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 CERS5_LIMA1

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).
CERS5_LIMA1_chr12-50560883_chr12-50575817.png
CERS5_LIMA1_chr12-50560883_chr12-50575817.png

- In-frame and retained protein feature among the 13 regional features (texts).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B71101_4665.66666666666667393.0Topological domainLumenal
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B711047_6765.66666666666667393.0TransmembraneHelical
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811516_527380.0760.0Compositional biasBasic and acidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811556_567380.0760.0Compositional biasBasic and acidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811595_607380.0760.0Compositional biasPolar residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811644_655380.0760.0Compositional biasPolar residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811656_673380.0760.0Compositional biasBasic and acidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811674_691380.0760.0Compositional biasAcidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811693_709380.0760.0Compositional biasPolar residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811388_448380.0760.0DomainLIM zinc-binding
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811509_709380.0760.0RegionDisordered

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110362_37865.66666666666667393.0Compositional biasPolar residues
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110139_34065.66666666666667393.0DomainTLC
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110349_39265.66666666666667393.0RegionDisordered
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B711075_13665.66666666666667393.0RegionHomeobox-like
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110332_39265.66666666666667393.0Topological domainCytoplasmic
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110148_16865.66666666666667393.0TransmembraneHelical
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110183_20365.66666666666667393.0TransmembraneHelical
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110214_23465.66666666666667393.0TransmembraneHelical
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110272_29265.66666666666667393.0TransmembraneHelical
HgeneCERS5chr12:50560883chr12:50575817ENST00000317551Q8N5B7110311_33165.66666666666667393.0TransmembraneHelical
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811146_177380.0760.0Compositional biasBasic and acidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811247_258380.0760.0Compositional biasBasic and acidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811362_376380.0760.0Compositional biasLow complexity
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB681196_105380.0760.0Compositional biasBasic and acidic residues
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811146_182380.0760.0RegionDisordered
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811211_264380.0760.0RegionDisordered
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB6811323_381380.0760.0RegionDisordered
TgeneLIMA1chr12:50560883chr12:50575817ENST00000341247Q9UHB681178_131380.0760.0RegionDisordered


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 CERS5_LIMA1

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 CERS5_LIMA1

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 CERS5_LIMA1


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 CERS5_LIMA1


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBLUSCTCGA-LA-A7SW-01ACERS5

chr12

50560883-LIMA1

chr12

50575820

-
ChimerDBLUSCTCGA-LA-A7SWCERS5

chr12

50560883-LIMA1

chr12

50575820

-
ChimerDBOVTCGA-59-2354-01ACERS5

chr12

50528328-LIMA1

chr12

50599851

-
ChimerDBSTADTCGA-BR-6454-01ACERS5

chr12

50560883-LIMA1

chr12

50575820

-
WashULUSCTCGA-LA-A7SW-01ACERS5

chr12

50560884-LIMA1

chr12

50575820

-
WashUOVTCGA-59-2354-01ACERS5

chr12

50528329-LIMA1

chr12

50599851

-
WashUSTADTCGA-BR-6454-01ACERS5

chr12

50560884-LIMA1

chr12

50575820

-
cBioPortalPOG570_BCGSC_2020MIXED20115CERS5

chr12

50535225LIMA1

chr12

50622981

cBioPortalPOG570_BCGSC_2020MIXED22256CERS5

chr12

50524603LIMA1

chr12

50614687

cBioPortalPOG570_BCGSC_2020MIXED22256CERS5

chr12

50528329LIMA1

chr12

50599851

cBioPortalCCLE_BROAD_2019MIXEDDMS454_LUNGCERS5

chr12

50528329LIMA1

chr12

50625493

cBioPortalCCLE_BROAD_2019MIXEDEFO27_OVARYCERS5

chr12

50560884LIMA1

chr12

50575820

cBioPortalSTAD_TCGA_PAN_CAN_ATLAS_2018STADTCGA-BR-6454-01CERS5

chr12

50167101LIMA1

chr12

50182037

cBioPortalLUSC_TCGA_PAN_CAN_ATLAS_2018LUSCTCGA-LA-A7SW-01CERS5

chr12

50167101LIMA1

chr12

50182037


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


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Related Drugs for CERS5_LIMA1


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