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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: 11723

FusionGeneSummary for EPB41L1_GHRH

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L1_GHRH
Fusion gene ID: 11723
HgeneTgene
Gene symbol

EPB41L1

GHRH

Gene ID

2036

2691

Gene nameerythrocyte membrane protein band 4.1 like 1growth hormone releasing hormone
Synonyms4.1N|MRD11GHRF|GRF|INN
Cytomap

20q11.23

20q11.23

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1somatoliberingrowth hormone releasing factorsermorelinsomatocrininsomatorelin
Modification date2018052320180523
UniProtAcc

Q9H4G0

P01286

Ensembl transtripts involved in fusion geneENST00000202028, ENST00000373950, 
ENST00000441639, ENST00000373946, 
ENST00000338074, ENST00000373941, 
ENST00000479336, 		ENST00000237527, 
ENST00000373614, ENST00000373611, 
Fusion gene scores* DoF score18 X 13 X 11=25742 X 1 X 1=2
# samples 232
** MAII scorelog2(23/2574*10)=-3.48430628727633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/2*10)=3.32192809488736
Context

PubMed: EPB41L1 [Title/Abstract] AND GHRH [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
TgeneGHRH

GO:0007189

adenylate cyclase-activating G-protein coupled receptor signaling pathway

1333056|3008329|7680413

TgeneGHRH

GO:0008284

positive regulation of cell proliferation

12867592

TgeneGHRH

GO:0030252

growth hormone secretion

2857452

TgeneGHRH

GO:0060124

positive regulation of growth hormone secretion

3008329|8421089|18329818


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-A8-A079-01AEPB41L1chr20

34700402

+GHRHchr20

35885311

-
* 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
5UTR-intronENST00000202028ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-5UTRENST00000202028ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-intronENST00000202028ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-intronENST00000373950ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-5UTRENST00000373950ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-intronENST00000373950ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-intronENST00000441639ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-5UTRENST00000441639ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
5UTR-intronENST00000441639ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000373946ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-5UTRENST00000373946ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000373946ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000338074ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-5UTRENST00000338074ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000338074ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000373941ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-5UTRENST00000373941ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000373941ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000479336ENST00000237527EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-5UTRENST00000479336ENST00000373614EPB41L1chr20

34700402

+GHRHchr20

35885311

-
intron-intronENST00000479336ENST00000373611EPB41L1chr20

34700402

+GHRHchr20

35885311

-

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FusionProtFeatures for EPB41L1_GHRH


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

Q9H4G0

GHRH

P01286

GRF is released by the hypothalamus and acts on theadenohypophyse to stimulate the secretion of growth hormone.

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_GHRH


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_GHRH


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, ISG20GHRHGHRHR


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_GHRH


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_GHRH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPB41L1C3280285MENTAL RETARDATION, AUTOSOMAL DOMINANT 111UNIPROT
TgeneGHRHC0005586Bipolar Disorder1PSYGENET
TgeneGHRHC0034063Pulmonary Edema1CTD_human