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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: 15390

FusionGeneSummary for GRHL2_ERG

check button Fusion gene summary
Fusion gene informationFusion gene name: GRHL2_ERG
Fusion gene ID: 15390
HgeneTgene
Gene symbol

GRHL2

ERG

Gene ID

79977

2078

Gene namegrainyhead like transcription factor 2ERG, ETS transcription factor
SynonymsBOM|DFNA28|ECTDS|TFCP2L3erg-3|p55
Cytomap

8q22.3

21q22.2

Type of geneprotein-codingprotein-coding
Descriptiongrainyhead-like protein 2 homologbrother of mammalian grainyheadgrainyhead-like 2transcription factor CP2-like 3transcriptional regulator ERGFUS/ERG fusion proteinTMPRSS2/ERG fusionerythroblast transformation-specific transcription factor ERG variant 10ets-relatedtranscriptional regulator ERG (transforming protein ERG)v-ets avian erythroblastosis virus E26 on
Modification date2018052320180523
UniProtAcc

Q6ISB3

P11308

Ensembl transtripts involved in fusion geneENST00000251808, ENST00000395927, 
ENST00000517674, 		ENST00000398907, 
ENST00000398905, ENST00000288319, 
ENST00000398897, ENST00000398911, 
ENST00000398910, ENST00000417133, 
ENST00000442448, ENST00000453032, 
ENST00000398919, ENST00000429727, 
ENST00000485493, 
Fusion gene scores* DoF score23 X 10 X 9=207013 X 15 X 8=1560
# samples 20226
** MAII scorelog2(20/2070*10)=-3.37155886261196
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(226/1560*10)=0.53477674355294
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GRHL2 [Title/Abstract] AND ERG [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
HgeneGRHL2

GO:0008544

epidermis development

23254293

HgeneGRHL2

GO:0044030

regulation of DNA methylation

23254293

HgeneGRHL2

GO:0045617

negative regulation of keratinocyte differentiation

23254293

HgeneGRHL2

GO:0045944

positive regulation of transcription by RNA polymerase II

23814079

TgeneERG

GO:0045944

positive regulation of transcription by RNA polymerase II

18195090|23913826


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
TCGARVPRADTCGA-V1-A9OT-01AGRHL2chr8

102571040

+ERGchr21

39795483

-
* 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
Frame-shiftENST00000251808ENST00000398907GRHL2chr8

102571040

+ERGchr21

39795483

-
Frame-shiftENST00000251808ENST00000398905GRHL2chr8

102571040

+ERGchr21

39795483

-
Frame-shiftENST00000251808ENST00000288319GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000398897GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000398911GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000398910GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000417133GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000442448GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000453032GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000398919GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000251808ENST00000429727GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-intronENST00000251808ENST00000485493GRHL2chr8

102571040

+ERGchr21

39795483

-
Frame-shiftENST00000395927ENST00000398907GRHL2chr8

102571040

+ERGchr21

39795483

-
Frame-shiftENST00000395927ENST00000398905GRHL2chr8

102571040

+ERGchr21

39795483

-
Frame-shiftENST00000395927ENST00000288319GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000398897GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000398911GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000398910GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000417133GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000442448GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000453032GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000398919GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-5UTRENST00000395927ENST00000429727GRHL2chr8

102571040

+ERGchr21

39795483

-
5CDS-intronENST00000395927ENST00000485493GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-3CDSENST00000517674ENST00000398907GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-3CDSENST00000517674ENST00000398905GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-3CDSENST00000517674ENST00000288319GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000398897GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000398911GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000398910GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000417133GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000442448GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000453032GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000398919GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-5UTRENST00000517674ENST00000429727GRHL2chr8

102571040

+ERGchr21

39795483

-
intron-intronENST00000517674ENST00000485493GRHL2chr8

102571040

+ERGchr21

39795483

-

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FusionProtFeatures for GRHL2_ERG


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GRHL2

Q6ISB3

ERG

P11308

Transcription factor playing an important role inprimary neurulation and in epithelial development(PubMed:29309642, PubMed:25152456). Binds directly to theconsensus DNA sequence 5'-AACCGGTT-3' acting as an activator andrepressor on distinct target genes (By similarity). Duringembryogenesis, plays unique and cooperative roles with GRHL3 inestablishing distinct zones of primary neurulation. Essential forclosure 3 (rostral end of the forebrain), functions cooperativelywith GRHL3 in closure 2 (forebrain/midbrain boundary) andposterior neuropore closure (By similarity). Regulates epithelialmorphogenesis acting as a target gene-associated transcriptionalactivator of apical junctional complex components. Up-regulates ofCLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4protein and its localization at tight junctions (By similarity).Comprises an essential component of the transcriptional machinerythat establishes appropriate expression levels of CLDN4 and CDH1in different types of epithelia. Exhibits functional redundancywith GRHL3 in epidermal morphogenetic events and epidermal woundrepair (By similarity). In lung, forms a regulatory loop withNKX2-1 that coordinates lung epithelial cell morphogenesis anddifferentiation (By similarity). In keratinocytes, plays a role intelomerase activation during cellular proliferation, regulatesTERT expression by binding to TERT promoter region and inhibitingDNA methylation at the 5'-CpG island, possibly by interfering withDNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). Inaddition, impairs keratinocyte differentiation and epidermalfunction by inhibiting the expression of genes clustered at theepidermal differentiation complex (EDC) as well as GRHL1 and GRHL3through epigenetic mechanisms (PubMed:23254293).{ECO:0000250|UniProtKB:Q8K5C0, ECO:0000269|PubMed:19015635,ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:20978075,ECO:0000269|PubMed:23254293, ECO:0000269|PubMed:25152456,ECO:0000269|PubMed:29309642, ECO:0000305|PubMed:12175488}. Transcriptional regulator. May participate intranscriptional regulation through the recruitment of SETDB1histone methyltransferase and subsequent modification of localchromatin structure.

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 GRHL2_ERG


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 GRHL2_ERG


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
GRHL2GRHL3, APP, LMO4, GRHL1, FOXA1ERGJUN, ETS2, AR, HSPA4, HSPA8, NEDD4, PRKDC, XRCC5, XRCC6, PARP1, XRCC4, NME1, DDX3X, PCBP1, HNRNPA2B1, DDX5, TRIM21, TPM1, HNRNPM, EIF2S1, RPLP0, PRPF8, RPL7A, HNRNPDL, TUBB, CAD, ACTB, ATP5A1, RPS18, HNRNPU, SPTAN1, DNAJA1, DNAJA2, DNAJA4, APP, USP9X, ADAR, CDC5L, CLTC, DDX21, DDX23, DKC1, EEF1A2, ELAVL1, FBL, HNRNPA1, HNRNPAB, HNRNPC, HNRNPD, HNRNPF, HNRNPH1, HNRNPH3, HNRNPUL1, HNRNPUL2, HSPD1, ILF2, ILF3, LANCL1, MATR3, NCL, NOLC1, NONO, NPM1, NUMA1, POLR2A, PRPF40A, PUF60, RCC2, SF3B1, SF3B2, SF3B3, SFPQ, SNRNP200, SYN1, TOP1, TOP2B, XRN2, CUL3, SPOP, TRIM25, UBR5, TRIM33, RING1, UBR4, RNF2, TRIP12, HUWE1, STUB1, UHRF1, HERC2, BRD4, BRD2, BRD3


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 GRHL2_ERG


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 GRHL2_ERG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGRHL2C4014987ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME1ORPHANET;UNIPROT
TgeneERGC0033578Prostatic Neoplasms5CTD_human
TgeneERGC0023418leukemia1CTD_human
TgeneERGC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneERGC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human