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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: 11717

FusionGeneSummary for EPB41L1_BCL2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L1_BCL2A1
Fusion gene ID: 11717
HgeneTgene
Gene symbol

EPB41L1

BCL2A1

Gene ID

2036

597

Gene nameerythrocyte membrane protein band 4.1 like 1BCL2 related protein A1
Synonyms4.1N|MRD11ACC-1|ACC-2|ACC1|ACC2|BCL2L5|BFL1|GRS|HBPA1
Cytomap

20q11.23

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1bcl-2-related protein A1bcl-2-like protein 5bcl2-L-5hematopoietic BCL2-related protein A1hemopoietic-specific early response proteinprotein BFL-1
Modification date2018052320180523
UniProtAcc

Q9H4G0

Q16548

Ensembl transtripts involved in fusion geneENST00000202028, ENST00000373950, 
ENST00000441639, ENST00000373946, 
ENST00000338074, ENST00000373941, 
ENST00000479336, 		ENST00000267953, 
ENST00000335661, 
Fusion gene scores* DoF score18 X 13 X 11=25743 X 2 X 4=24
# samples 235
** MAII scorelog2(23/2574*10)=-3.48430628727633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/24*10)=1.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPB41L1 [Title/Abstract] AND BCL2A1 [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
TCGARVBRCATCGA-E2-A10C-01AEPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
* 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-3CDSENST00000202028ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000202028ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
5UTR-3CDSENST00000373950ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
5UTR-3CDSENST00000373950ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000441639ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000441639ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000373946ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000373946ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000338074ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000338074ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000373941ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000373941ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000479336ENST00000267953EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-
intron-3CDSENST00000479336ENST00000335661EPB41L1chr20

34709738

+BCL2A1chr15

80253516

-

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FusionProtFeatures for EPB41L1_BCL2A1


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

Q9H4G0

BCL2A1

Q16548

Retards apoptosis induced by IL-3 deprivation. Mayfunction in the response of hemopoietic cells to external signalsand in maintaining endothelial survival during infection (Bysimilarity). Can inhibit apoptosis induced by serum starvation inthe mammary epithelial cell line HC11 (By similarity).{ECO:0000250, ECO:0000250|UniProtKB:Q07440}.

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_BCL2A1


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_BCL2A1


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
EPB41L1NUMA1, STARD13, ITPR1, SDC2, DRD2, DRD3, GRIA1, AGAP2, ELAVL1, TERF1, POT1, APP, NOP16, HNRNPUL1, SRPK2, ACACA, CAST, COPS3, COPS4, COPS5, COPS2, COPS7A, GCN1L1, INPPL1, NUP50, POLA2, POP7, RPP30, KIF5B, PSMA4, PSMA5, PSMB3, PSMB4, PSMB5, PSMB7, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, DDAH2, EIF3I, EPB41L3, HSPB1, TMEM17, BRD2, CDH1, PTPRA, EPB41L2, MISP, PRICKLE3, ISG20BCL2A1BAX, BOK, BAD, BMF, PMAIP1, BIK, HRK, BID, BCL2L11, HAT1, APP, NR4A1, BAK1, FAM9B, BBC3


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_BCL2A1


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_BCL2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPB41L1C3280285MENTAL RETARDATION, AUTOSOMAL DOMINANT 111UNIPROT
TgeneBCL2A1C1458155Mammary Neoplasms2CTD_human
TgeneBCL2A1C0003873Rheumatoid Arthritis1CTD_human
TgeneBCL2A1C0014859Esophageal Neoplasms1CTD_human