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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:LGALS4-MUC1 (FusionGDB2 ID:44313)

Fusion Gene Summary for LGALS4-MUC1

check button Fusion gene summary
Fusion gene informationFusion gene name: LGALS4-MUC1
Fusion gene ID: 44313
HgeneTgene
Gene symbol

LGALS4

MUC1

Gene ID

3960

4582

Gene namegalectin 4mucin 1, cell surface associated
SynonymsGAL4|L36LBPADMCKD|ADMCKD1|CA 15-3|CD227|EMA|H23AG|KL-6|MAM6|MCD|MCKD|MCKD1|MUC-1|MUC-1/SEC|MUC-1/X|MUC1/ZD|PEM|PEMT|PUM
Cytomap

19q13.2

1q22

Type of geneprotein-codingprotein-coding
Descriptiongalectin-4L-36 lactose-binding proteinantigen NY-CO-27gal-4lactose-binding lectin 4lectin, galactoside-binding, soluble, 4mucin-1H23 antigenbreast carcinoma-associated antigen DF3cancer antigen 15-3carcinoma-associated mucinepisialinkrebs von den Lungen-6mucin 1, transmembranepeanut-reactive urinary mucinpolymorphic epithelial mucintumor associated epithelial mucin
Modification date2020031320200327
UniProtAcc.

Q7Z5P9

Ensembl transtripts involved in fusion geneENST00000307751, ENST00000597803, 
ENST00000368395, ENST00000338684, 
ENST00000438413, ENST00000457295, 
ENST00000462215, ENST00000368392, 
ENST00000368393, ENST00000368390, 
ENST00000368396, ENST00000343256, 
ENST00000368398, ENST00000368389, 
ENST00000342482, ENST00000337604, 
Fusion gene scores* DoF score10 X 10 X 3=3008 X 10 X 5=400
# samples 1010
** MAII scorelog2(10/300*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/400*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LGALS4 [Title/Abstract] AND MUC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLGALS4(39293186)-MUC1(155161943), # samples:4
MUC1(155161943)-LGALS4(39293186), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMUC1

GO:0006977

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

15710329

TgeneMUC1

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

15710329

TgeneMUC1

GO:0010944

negative regulation of transcription by competitive promoter binding

15710329

TgeneMUC1

GO:0033629

negative regulation of cell adhesion mediated by integrin

7698991

TgeneMUC1

GO:0036003

positive regulation of transcription from RNA polymerase II promoter in response to stress

15710329

TgeneMUC1

GO:0043618

regulation of transcription from RNA polymerase II promoter in response to stress

15710329

TgeneMUC1

GO:0090240

positive regulation of histone H4 acetylation

15710329

TgeneMUC1

GO:1902166

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

15710329


check buttonFusion gene breakpoints across LGALS4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MUC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAW391718LGALS4chr19

39293186

+MUC1chr1

155161943

+
ChiTaRS5.0N/AAW391726LGALS4chr19

39293186

+MUC1chr1

155161943

+
ChiTaRS5.0N/AAW391729LGALS4chr19

39293186

+MUC1chr1

155161943

+
ChiTaRS5.0N/AAW391731LGALS4chr19

39293186

+MUC1chr1

155161943

+


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Fusion Gene ORF analysis for LGALS4-MUC1

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
intron-3CDSENST00000307751ENST00000368395LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000338684LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000438413LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000457295LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000462215LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000368392LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000368393LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000368390LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000368396LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000343256LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000368398LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000368389LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000342482LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000307751ENST00000337604LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-3CDSENST00000597803ENST00000368395LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000338684LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000438413LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000457295LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000462215LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000368392LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000368393LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000368390LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000368396LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000343256LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000368398LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000368389LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000342482LGALS4chr19

39293186

+MUC1chr1

155161943

+
intron-intronENST00000597803ENST00000337604LGALS4chr19

39293186

+MUC1chr1

155161943

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for LGALS4-MUC1


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). 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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for LGALS4-MUC1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MUC1

Q7Z5P9

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: May function in ocular mucus homeostasis. {ECO:0000269|PubMed:18184611}.

check buttonRetention 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.
- In-frame and retained protein feature among the 13 regional features.
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


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Fusion Gene Sequence for LGALS4-MUC1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for LGALS4-MUC1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for LGALS4-MUC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for LGALS4-MUC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMUC1C1868139Medullary cystic kidney disease 14CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneMUC1C0007621Neoplastic Cell Transformation1CTD_human
TgeneMUC1C0024623Malignant neoplasm of stomach1CTD_human
TgeneMUC1C0025500Mesothelioma1CTD_human
TgeneMUC1C0026764Multiple Myeloma1CTD_human
TgeneMUC1C0031149Peritoneal Neoplasms1CTD_human
TgeneMUC1C0032927Precancerous Conditions1CTD_human
TgeneMUC1C0038356Stomach Neoplasms1CTD_human
TgeneMUC1C0282313Condition, Preneoplastic1CTD_human
TgeneMUC1C0345967Malignant mesothelioma1CTD_human
TgeneMUC1C0346990Carcinomatosis of peritoneal cavity1CTD_human
TgeneMUC1C1708349Hereditary Diffuse Gastric Cancer1CTD_human