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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:GALNTL4_IER3IP1 (FusionGDB2 ID:HG374378TG51124)

Fusion Gene Summary for GALNTL4_IER3IP1

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNTL4_IER3IP1
Fusion gene ID: hg374378tg51124
HgeneTgene
Gene symbol

GALNTL4

IER3IP1

Gene ID

374378

51124

Gene namepolypeptide N-acetylgalactosaminyltransferase 18immediate early response 3 interacting protein 1
SynonymsGALNACT18|GALNT15|GALNTL4|GalNAc-T15|GalNAc-T18HSPC039|MEDS|PRO2309
Cytomap

11p15.4

18q21.1

Type of geneprotein-codingprotein-coding
Descriptionpolypeptide N-acetylgalactosaminyltransferase 18GalNAc-transferase 18UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15UDP-N-acetyl-alpha-D-galactoimmediate early response 3-interacting protein 1
Modification date2024040320240411
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000227756, ENST00000526064, 
Fusion gene scores* DoF score* DoF score (Degree of Frequency) = # partners X # break points X # disease types
17 X 10 X 13=2210
* DoF score (Degree of Frequency) = # partners X # break points X # disease types
3 X 2 X 3=18
# samples 278
** MAII score** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)
log2(27/2210*10)=-3.03301505722796
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(8/18*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GALNTL4 [Title/Abstract] AND IER3IP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGALNT18(11454167)-IER3IP1(44683908), # samples:1

check buttonFusion gene breakpoints across GALNT18 (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 IER3IP1 (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 GALNTL4_IER3IP1


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
GALNT18chr1111454167IER3IP1chr1844683908
GALNTL4chr1111454168IER3IP1chr1844683908
GALNT18chr1111454168IER3IP1chr1844683908
GALNT18chr1111432621IER3IP1chr1847157537


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 GALNTL4_IER3IP1


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
HgeneGALNTL4

GO:0006493

protein O-linked glycosylation

22186971

TgeneIER3IP1

GO:0007420

brain development

33122427

TgeneIER3IP1

GO:0035265

organ growth

33122427


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Fusion Genomic Features for GALNTL4_IER3IP1


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)
GALNT18chr1111454167-IER3IP1chr1844683908-7.27e-061.00e+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).

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Fusion Gene ORF Annotations for GALNTL4_IER3IP1

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
Frame-shiftENST00000227756ENST00000588705GALNT18chr11

11454167

-IER3IP1chr18

44683908

-
In-frameENST00000227756ENST00000256433GALNT18chr11

11454167

-IER3IP1chr18

44683908

-

check buttonORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)
Seq length
(peptide)
ENST00000227756ENST00000256433GALNT18chr1111454167IER3IP1chr18446839081007808

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
ENST00000227756ENST00000256433GALNT18chr1111454167IER3IP1chr18446839083.56e-039.96e-01

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 GALNTL4_IER3IP1

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
HgeneGALNT18chr11:11454167chr18:44683908ENST00000227756Q6P9A23111_12198.33333333333334608.0Topological domainCytoplasmic
HgeneGALNT18chr11:11454167chr18:44683908ENST00000227756Q6P9A231113_35198.33333333333334608.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneIER3IP1chr11:11454167chr18:44683908ENST00000256433Q9Y5U90362_8230.33333333333333283.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGALNT18chr11:11454167chr18:44683908ENST00000227756Q6P9A2311469_599198.33333333333334608.0DomainRicin B-type lectin
HgeneGALNT18chr11:11454167chr18:44683908ENST00000227756Q6P9A2311153_267198.33333333333334608.0RegionNote=Catalytic subdomain A
HgeneGALNT18chr11:11454167chr18:44683908ENST00000227756Q6P9A2311324_385198.33333333333334608.0RegionNote=Catalytic subdomain B
HgeneGALNT18chr11:11454167chr18:44683908ENST00000227756Q6P9A231136_607198.33333333333334608.0Topological domainLumenal
TgeneIER3IP1chr11:11454167chr18:44683908ENST00000256433Q9Y5U9032_2230.33333333333333283.0TransmembraneHelical


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 GALNTL4_IER3IP1

check button In-frame Fusion Transcript Sequences.
>GALNT18_IER3IP1_ENST00000227756_ENST00000256433_11454167_44683908 length=2300nt
Breakpoint=1007nt
GCTGTTCTCCTAGCAGCGCGGGCCGGTCGGACCGCCAAGGCAGCCGGCGCTGGCGATGGGAAGCGGCGTGGCCGCCGACACAGGCAGTGGCAAAGTTTCCCAGACGTACACATCTGGACGCGCGGCTGCCGGCTACCCGTGACCCCTCTA
GGAAGGGTTCAGGGATTTTTAATTTGGAAAAAAATCCACCTGGTTTCCTTTGTCAAGGTCTCTCCGGGTGGCCAGCGGCAGGAGCTGCAAACTTGGGCACGGCGGCTACACCGGCAGCGGACCGGGCTTTGGAGAACCTCGGGACTCAGG
TGCTGAGGTGCCCAGCGGCTCCGGACGTGCTACGGGGTGCGAGCGCGGGGGAGTTCGGGGCGCACGACAAGGAAGGGCCCCCGGGAGCTCTATATGGAGGAAGGAGCCCAGAATGGTGTGCACCAGGAAGACCAAAACTTTGGTGTCCAC
TTGCGTGATCCTGAGCGGCATGACTAACATCATCTGCCTGCTCTACGTGGGCTGGGTCACCAACTACATCGCCAGCGTGTATGTGCGGGGGCAGGAGCCGGCGCCCGACAAGAAGCTGGAGGAAGACAAAGGGGACACTCTGAAGATTAT
TGAGCGGCTGGACCACCTGGAGAATGTCATCAAGCAGCACATTCAAGAGGCTCCTGCCAAGCCTGAGGAGGCAGAGGCCGAGCCCTTCACAGACTCCTCTCTGTTTGCACACTGGGGCCAGGAGCTCAGCCCCGAAGGCCGGCGCGTGGC
CCTGAAGCAATTCCAGTACTACGGCTACAACGCCTACCTCAGCGACCGCCTGCCCCTGGACCGGCCCCTGCCTGACCTCAGACCCAGTGGGTGCCGTAACCTCTCATTTCCTGACAGCCTGCCAGAGGTGAGCATCGTGTTCATCTTCGT
CAATGAAGCGCTTTCAGTGCTGCTGCGCTCCATCCACTCGGCCATGGAACGCACGCCCCCACATCTGCTCAAGGAGATCATTCTGGTGGATGACAACAGCAGTAACGTTGGCTGGGGAACAGACCAGGGAATTGGTGGATTTGGAGAAGA
GCCGGGAATTAAATCACAGCTAATGAACCTTATTCGATCTGTAAGAACCGTGATGAGAGTGCCATTGATAATAGTAAACTCAATTGCAATTGTGTTACTTTTATTATTTGGATGAATATCAGTGGAGAAAATGGAGACTCAGAAGAGGAC
ATGCCAGTAGAAGTTATTACTTTGGTCATTATTGGAATATTTATATCTTAGCTGGCTGACCTTGCACTTGTCAAAAATGTAAAGCTGAAAATAAAACCAGGGTTTCTATTTATCTGTTTTTTTTTTTAATGTTGCACTTGTAGTTTCATT
ACAAAAGATCAGATCATGAAAGGCAGTAACTCTCCAGGACTGGAATATCTGATTGCTCAGTGTTAATAGTAGTTCATGCTGTGGTGAGATTGTTAAAAGGGTGCAAGACTGTTGCTTCTCTTTTTTTAGATATTTTTCTATCTCTCACTT
CTCAGGGATGAAATTCTTTTTCAAAGTTTTGAAGTTCCTTGCAACTTAGCCATGATGTGAGTGGTTATCCCTAGATAAAATTAAAAGGATTTTTAAAAAGTAATTACTGCACATAAAATGATAAATAGGTAATTTGAATAATTTTATTTT
AAGCTCCTTGGTTAATTATTTTGTCTATTGTCTCAGCTATAAATTCAAATTTATACATACTATTGAGTATTAATATTCTCTGATTTCAGGGAGAATTCTGTCAGTCACATGATGATTATGTTTTTGTTTAACATTCTTTCCATGCACTTG
TTATTTTATTAATTTGCCTGAATGATGAGACCAGACCAGTGTCTACAGATTTTCATTGTCAGAAAAATCTATAAGTCTGCCCTTTTTACAATGATGATTTAAAAAAAACAACAGCGTAAATATTAGCCCACAAGAGCAGTCCTAAACAAT
CACAATTACACTGTACTACCCAAGAAGACTGTTTATTGTGAAGCATTTACCTTTCAAAAAATCATTACATTTCTATTTCTTGGTGGAGCAGCACATTGTGGAGTGTGATTCTTAATTCTTCATTGAGTTTGTCAATAGGACATTGATGCT
GGATAGGTTGTCTTTTGTTTTTATGTCTCAGACCATCTTGTGAGATTGTTTGCCTATCTCATAATACAGTTTTATGCAGAAAGGTTGAAACTATGTAAATGGTTTTTATGGAAATTATCAGTTACAATATTTTAAAGGTGTAGAATGGCA
TCTTTGTTTATAGGAGAACATTTGTAAATAAAGTTAAATTTCTAAGTCAA


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

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

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Fusion Protein Sequence for GALNTL4_IER3IP1

check button In-frame Fusion Protein Sequences.
>GALNT18_IER3IP1_ENST00000227756_ENST00000256433_11454167_44683908 length=808nt
MSRSLRVASGRSCKLGHGGYTGSGPGFGEPRDSGAEVPSGSGRATGCERGGVRGARQGRAPGSSIWRKEPRMVCTRKTKTLVSTCVILSGMTNIICLLYVGWVTNYIASVYVRGQEPAPDKKLEEDKGDTLKIIERLDHLENVIKQHIQE
APAKPEEAEAEPFTDSSLFAHWGQELSPEGRRVALKQFQYYGYNAYLSDRLPLDRPLPDLRPSGCRNLSFPDSLPEVSIVFIFVNEALSVLLRSIHSAMERTPPHLLKEIILVDDNSSNEELKEKLTEYVDKVNSQKPGFIKVVRHSKQE
GLIRSRVSGWRAATAPVVALFDAHVEFNVGWAEPVLTRIKENRKRIISPSFDNIKYDNFEIEEYPLAAQGFDWELWCRYLNPPKAWWKLENSTAPIRSPALIGCFIVDRQYFQEIGLLDEGMEVYGGENVELGIRSPRFIGRRQSLIEDA
RKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFS
DQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSD
AKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG


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 GALNTL4_IER3IP1


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 GALNTL4_IER3IP1


check buttonRNA-seq based fusion gene expressed samples.
SourceStudyDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDBBLCATCGA-DK-A3IN-01AGALNT18

chr11

11454167-IER3IP1

chr18

44683908

-
ChimerDBBLCATCGA-DK-A3IN-01AGALNTL4

chr11

11454168-IER3IP1

chr18

44683908

-
TCGAfusionPortalBLCATCGA-DK-A3IN-01AGALNTL4

chr11

11454168-IER3IP1

chr18

44683908

-
WashUBLCATCGA-DK-A3IN-01AGALNT18

chr11

11454168-IER3IP1

chr18

44683908

-
cBioPortalBLCA_TCGA_PAN_CAN_ATLAS_2018BLCATCGA-DK-A3IN-01GALNT18

chr11

11432621IER3IP1

chr18

47157537


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


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Related Drugs for GALNTL4_IER3IP1


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