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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: 11722

FusionGeneSummary for EPB41L1_FIP1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L1_FIP1L1
Fusion gene ID: 11722
HgeneTgene
Gene symbol

EPB41L1

FIP1L1

Gene ID

2036

81608

Gene nameerythrocyte membrane protein band 4.1 like 1factor interacting with PAPOLA and CPSF1
Synonyms4.1N|MRD11FIP1|Rhe|hFip1
Cytomap

20q11.23

4q12

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1pre-mRNA 3'-end-processing factor FIP1FIP1 like 1FIP1-like 1 proteinFIP1L1 cleavage and polyadenylation specific factor subunitfactor interacting with PAPrearranged in hypereosinophilia
Modification date2018052320180523
UniProtAcc

Q9H4G0

Q6UN15

Ensembl transtripts involved in fusion geneENST00000202028, ENST00000373950, 
ENST00000441639, ENST00000373946, 
ENST00000338074, ENST00000373941, 
ENST00000479336, 		ENST00000507166, 
ENST00000358575, ENST00000337488, 
ENST00000507922, ENST00000306932, 
ENST00000510668, 
Fusion gene scores* DoF score18 X 13 X 11=25749 X 10 X 5=450
# samples 2313
** MAII scorelog2(23/2574*10)=-3.48430628727633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/450*10)=-1.79141337818858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPB41L1 [Title/Abstract] AND FIP1L1 [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

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
ChiTaRS3.1BU607884EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
* 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-intronENST00000202028ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000202028ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000202028ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000202028ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000202028ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000202028ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373950ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373950ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373950ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373950ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373950ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373950ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000441639ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000441639ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000441639ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000441639ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000441639ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000441639ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000373946ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000373946ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000373946ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000373946ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000373946ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000373946ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000338074ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000338074ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000338074ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000338074ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000338074ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
3UTR-intronENST00000338074ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373941ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373941ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373941ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373941ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373941ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000373941ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000479336ENST00000507166EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000479336ENST00000358575EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000479336ENST00000337488EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000479336ENST00000507922EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000479336ENST00000306932EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+
intron-intronENST00000479336ENST00000510668EPB41L1chr20

34820612

-FIP1L1chr4

54319225

+

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FusionProtFeatures for EPB41L1_FIP1L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPB41L1

Q9H4G0

FIP1L1

Q6UN15


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 EPB41L1_FIP1L1


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 EPB41L1_FIP1L1


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 EPB41L1_FIP1L1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EPB41L1_FIP1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPB41L1C3280285MENTAL RETARDATION, AUTOSOMAL DOMINANT 111UNIPROT
TgeneFIP1L1C1540912Hypereosinophilic syndrome1CTD_human