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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: 33894

FusionGeneSummary for SIPA1L1_EPB41

check button Fusion gene summary
Fusion gene informationFusion gene name: SIPA1L1_EPB41
Fusion gene ID: 33894
HgeneTgene
Gene symbol

SIPA1L1

EPB41

Gene ID

26037

2035

Gene namesignal induced proliferation associated 1 like 1erythrocyte membrane protein band 4.1
SynonymsE6TP14.1R|EL1|HE
Cytomap

14q24.2

1p35.3

Type of geneprotein-codingprotein-coding
Descriptionsignal-induced proliferation-associated 1-like protein 1SIPA1-like protein 1high-risk human papilloma viruses E6 oncoproteins targeted protein 1protein 4.1EPB4.1P4.1band 4.1elliptocytosis 1, RH-linkederythrocyte surface protein band 4.1
Modification date2018051920180523
UniProtAcc

O43166

P11171

Ensembl transtripts involved in fusion geneENST00000381232, ENST00000555818, 
ENST00000358550, ENST00000537413, 
ENST00000554874, 
ENST00000356093, 
ENST00000398863, ENST00000343067, 
ENST00000349460, ENST00000373800, 
ENST00000347529, ENST00000373798, 
ENST00000373797, ENST00000460378, 
Fusion gene scores* DoF score5 X 5 X 3=756 X 7 X 3=126
# samples 58
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SIPA1L1 [Title/Abstract] AND EPB41 [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
TgeneEPB41

GO:0032092

positive regulation of protein binding

3693401


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
ChiTaRS3.1CB857782SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
* 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
5CDS-3UTRENST00000381232ENST00000356093SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000381232ENST00000398863SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000381232ENST00000343067SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000381232ENST00000349460SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000381232ENST00000373800SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000381232ENST00000347529SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000381232ENST00000373798SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000381232ENST00000373797SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000381232ENST00000460378SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000555818ENST00000356093SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000555818ENST00000398863SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000555818ENST00000343067SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000555818ENST00000349460SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000555818ENST00000373800SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000555818ENST00000347529SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000555818ENST00000373798SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000555818ENST00000373797SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000555818ENST00000460378SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000358550ENST00000356093SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000358550ENST00000398863SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000358550ENST00000343067SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000358550ENST00000349460SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000358550ENST00000373800SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000358550ENST00000347529SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000358550ENST00000373798SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000358550ENST00000373797SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000358550ENST00000460378SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000537413ENST00000356093SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000537413ENST00000398863SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000537413ENST00000343067SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000537413ENST00000349460SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000537413ENST00000373800SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000537413ENST00000347529SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000537413ENST00000373798SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-intronENST00000537413ENST00000373797SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
5CDS-3UTRENST00000537413ENST00000460378SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-3UTRENST00000554874ENST00000356093SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-3UTRENST00000554874ENST00000398863SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-3UTRENST00000554874ENST00000343067SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-intronENST00000554874ENST00000349460SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-intronENST00000554874ENST00000373800SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-intronENST00000554874ENST00000347529SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-3UTRENST00000554874ENST00000373798SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-intronENST00000554874ENST00000373797SIPA1L1chr14

72196986

+EPB41chr1

29446085

-
3UTR-3UTRENST00000554874ENST00000460378SIPA1L1chr14

72196986

+EPB41chr1

29446085

-

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FusionProtFeatures for SIPA1L1_EPB41


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIPA1L1

O43166

EPB41

P11171

Stimulates the GTPase activity of RAP2A. Promotesreorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spinemorphogenesis (By similarity). {ECO:0000250}.

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 SIPA1L1_EPB41


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 SIPA1L1_EPB41


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 SIPA1L1_EPB41


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 SIPA1L1_EPB41


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSIPA1L1C0043094Weight Gain1CTD_human
HgeneSIPA1L1C3495559Juvenile arthritis1CTD_human
TgeneEPB41C0025202melanoma1CTD_human