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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17394

FusionGeneSummary for IL4I1_CSTB

check button Fusion gene summary
Fusion gene informationFusion gene name: IL4I1_CSTB
Fusion gene ID: 17394
HgeneTgene
Gene symbol

IL4I1

CSTB

Gene ID

259307

1476

Gene nameinterleukin 4 induced 1cystatin B
SynonymsFIG1|LAAO|LAOCPI-B|CST6|EPM1|EPM1A|PME|STFB|ULD
Cytomap

19q13.33

21q22.3

Type of geneprotein-codingprotein-coding
DescriptionL-amino-acid oxidaseFig-1 proteinIL4-induced protein 1interleukin four induced 1cystatin-Bcystatin B (stefin B)liver thiol proteinase inhibitor
Modification date2018052320180523
UniProtAcc

Q96RQ9

P04080

Ensembl transtripts involved in fusion geneENST00000391826, ENST00000595948, 
ENST00000341114, 
ENST00000291568, 
Fusion gene scores* DoF score10 X 6 X 6=3603 X 3 X 1=9
# samples 113
** MAII scorelog2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IL4I1 [Title/Abstract] AND CSTB [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneCSTB

GO:0010466

negative regulation of peptidase activity

6203523

TgeneCSTB

GO:0045861

negative regulation of proteolysis

3488317


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BU534964IL4I1chr19

50432463

-CSTBchr21

45194620

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000391826ENST00000291568IL4I1chr19

50432463

-CSTBchr21

45194620

-
intron-3CDSENST00000595948ENST00000291568IL4I1chr19

50432463

-CSTBchr21

45194620

-
intron-3CDSENST00000341114ENST00000291568IL4I1chr19

50432463

-CSTBchr21

45194620

-

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FusionProtFeatures for IL4I1_CSTB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IL4I1

Q96RQ9

CSTB

P04080

Lysosomal L-amino-acid oxidase with highest specificactivity with phenylalanine. May play a role in lysosomal antigenprocessing and presentation (By similarity). {ECO:0000250}. This is an intracellular thiol proteinase inhibitor.Tightly binding reversible inhibitor of cathepsins L, H and B.

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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FusionGeneSequence for IL4I1_CSTB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IL4I1_CSTB


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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RelatedDrugs for IL4I1_CSTB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIL4I1Q96RQ9DB04272Citric AcidL-amino-acid oxidasesmall moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for IL4I1_CSTB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCSTBC0751785Unverricht-Lundborg Syndrome3CTD_human;ORPHANET;UNIPROT
TgeneCSTBC0027626Neoplasm Invasiveness2CTD_human
TgeneCSTBC0017636Glioblastoma1CTD_human
TgeneCSTBC0025286Meningioma1CTD_human
TgeneCSTBC0279626Squamous cell carcinoma of esophagus1CTD_human