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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:EPS15-FAF1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: EPS15-FAF1
	FusionPDB ID: 27058
	FusionGDB2.0 ID: 27058
		Hgene	Tgene
	Gene symbol	EPS15	FAF1
	Gene ID	2060	11124
	Gene name	epidermal growth factor receptor pathway substrate 15	Fas associated factor 1
	Synonyms	AF-1P\|AF1P\|MLLT5	CGI-03\|HFAF1s\|UBXD12\|UBXN3A\|hFAF1
	Cytomap	1p32.3	1p32.3
	Type of gene	protein-coding	protein-coding
	Description	epidermal growth factor receptor substrate 15ALL1 fused gene from chromosome 1protein AF-1p	FAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3A
	Modification date	20200313	20200313
	UniProtAcc	Q9UBC2	Q9UNN5
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000371730, ENST00000371733, ENST00000396122, ENST00000493793,	ENST00000472808, ENST00000545823, ENST00000371778, ENST00000396153,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	17 X 13 X 11=2431	28 X 23 X 14=9016
	# samples	17	31
	** MAII score	log2(17/2431*10)=-3.83794324189103 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(31/9016*10)=-4.86214739489798 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: EPS15 [Title/Abstract] AND FAF1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	FAF1(51323601)-EPS15(51946986), # samples:2 EPS15(51984870)-FAF1(51323669), # samples:1
Anticipated loss of major functional domain due to fusion event.	EPS15-FAF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EPS15-FAF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EPS15-FAF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EPS15-FAF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FAF1-EPS15 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FAF1-EPS15 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FAF1-EPS15 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. FAF1-EPS15 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FAF1-EPS15 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	EPS15	GO:0048268	clathrin coat assembly	12807910
Tgene	FAF1	GO:0010942	positive regulation of cell death	15596450

Fusion gene breakpoints across EPS15 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across FAF1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	Non-Cancer	2397N	EPS15	chr1	51984870	-	FAF1	chr1	51323669	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000371730	EPS15	chr1	51984870	-	ENST00000396153	FAF1	chr1	51323669	-	3913	43	10	1950	646
ENST00000371730	EPS15	chr1	51984870	-	ENST00000371778	FAF1	chr1	51323669	-	2354	43	10	1950	646
ENST00000371733	EPS15	chr1	51984870	-	ENST00000396153	FAF1	chr1	51323669	-	4000	130	13	2037	674
ENST00000371733	EPS15	chr1	51984870	-	ENST00000371778	FAF1	chr1	51323669	-	2441	130	13	2037	674

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000371730	ENST00000396153	EPS15	chr1	51984870	-	FAF1	chr1	51323669	-	0.000306867	0.99969316
ENST00000371730	ENST00000371778	EPS15	chr1	51984870	-	FAF1	chr1	51323669	-	0.000600785	0.9993992
ENST00000371733	ENST00000396153	EPS15	chr1	51984870	-	FAF1	chr1	51323669	-	0.000347565	0.9996524
ENST00000371733	ENST00000371778	EPS15	chr1	51984870	-	FAF1	chr1	51323669	-	0.0007833	0.9992167

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>27058_27058_1_EPS15-FAF1_EPS15_chr1_51984870_ENST00000371730_FAF1_chr1_51323669_ENST00000371778_length(amino acids)=646AA_BP=10
MAAAAQLSLTQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIV
ERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSSSHAG
ALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQT
REQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAAFQEA
FYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLTMCNRHFGSVVAQTIRTQKTDQFPLFLII
MGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAKREAHEREMAEQFRLEQIRK
EQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLL

--------------------------------------------------------------

>27058_27058_2_EPS15-FAF1_EPS15_chr1_51984870_ENST00000371730_FAF1_chr1_51323669_ENST00000396153_length(amino acids)=646AA_BP=10
MAAAAQLSLTQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIV
ERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSSSHAG
ALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQT
REQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAAFQEA
FYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLTMCNRHFGSVVAQTIRTQKTDQFPLFLII
MGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAKREAHEREMAEQFRLEQIRK
EQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLL

--------------------------------------------------------------

>27058_27058_3_EPS15-FAF1_EPS15_chr1_51984870_ENST00000371733_FAF1_chr1_51323669_ENST00000371778_length(amino acids)=674AA_BP=1
MRPLPPPPPRPEPQSARLPSPPLHDGNTMAAAAQLSLTQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAF
NPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVL
KSLHLPKNNSLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATD
DSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQ
FTAEFSSRYGDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLT
MCNRHFGSVVAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYR
LSLEADRAKREAHEREMAEQFRLEQIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASK

--------------------------------------------------------------

>27058_27058_4_EPS15-FAF1_EPS15_chr1_51984870_ENST00000371733_FAF1_chr1_51323669_ENST00000396153_length(amino acids)=674AA_BP=1
MRPLPPPPPRPEPQSARLPSPPLHDGNTMAAAAQLSLTQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAF
NPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVL
KSLHLPKNNSLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATD
DSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQ
FTAEFSSRYGDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLT
MCNRHFGSVVAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYR
LSLEADRAKREAHEREMAEQFRLEQIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASK

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:51323601/chr1:51946986)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
EPS15 Q9UBC2	FAF1 Q9UNN5
FUNCTION: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269\|PubMed:22648170, ECO:0000269\|PubMed:9407958}.	FUNCTION: Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity). {ECO:0000250\|UniProtKB:P54731, ECO:0000269\|PubMed:19722279, ECO:0000269\|PubMed:26842564}.

Retention 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.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

FAF1

chr1:51984870

chr1:51323669

ENST00000371778

569_646

15.0

651.0

Domain

UBX

Tgene

FAF1

chr1:51984870

chr1:51323669

ENST00000396153

569_646

15.0

651.0

Domain

UBX

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

173_184

11.0

897.0

Calcium binding

Note=1

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

236_247

11.0

897.0

Calcium binding

Note=2

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

768_850

11.0

897.0

Compositional bias

Note=Pro-rich

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

128_216

11.0

897.0

Domain

EH 2

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

15_104

11.0

897.0

Domain

EH 1

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

160_195

11.0

897.0

Domain

EF-hand 1

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

223_258

11.0

897.0

Domain

EF-hand 2

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

224_314

11.0

897.0

Domain

EH 3

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

851_870

11.0

897.0

Domain

UIM 1

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

877_896

11.0

897.0

Domain

UIM 2

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

768_774

11.0

897.0

Motif

Note=SH3-binding

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

599_827

11.0

897.0

Region

Note=15 X 3 AA repeats of D-P-F

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

599_601

11.0

897.0

Repeat

Note=1

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

623_625

11.0

897.0

Repeat

Note=2

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

629_631

11.0

897.0

Repeat

Note=3

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

634_636

11.0

897.0

Repeat

Note=4

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

640_642

11.0

897.0

Repeat

Note=5

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

645_647

11.0

897.0

Repeat

Note=6

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

651_653

11.0

897.0

Repeat

Note=7

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

664_666

11.0

897.0

Repeat

Note=8

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

672_674

11.0

897.0

Repeat

Note=9

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

692_694

11.0

897.0

Repeat

Note=10

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

709_711

11.0

897.0

Repeat

Note=11

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

737_739

11.0

897.0

Repeat

Note=12

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

798_800

11.0

897.0

Repeat

Note=13

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

804_806

11.0

897.0

Repeat

Note=14

Hgene

EPS15

chr1:51984870

chr1:51323669

ENST00000371733

825_827

11.0

897.0

Repeat

Note=15

Tgene

FAF1

chr1:51984870

chr1:51323669

ENST00000371778

1_57

15.0

651.0

Domain

UBA

Tgene

FAF1

chr1:51984870

chr1:51323669

ENST00000396153

1_57

15.0

651.0

Domain

UBA

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

EPS15

RNF11, SNAP91, AGFG1, NAGPA, STON2, HGS, AP2A2, DNM2, AP2A1, EGFR, CLINT1, EPN1, SCAMP1, STAM2, GRB2, CRK, RAB11FIP2, Synj1, REPS2, UBE2D1, UBE2D2, UBE2D3, UBE2H, UBE2E1, SLC6A3, PARK2, USP8, CD4, EPS15, OCLN, UBQLN1, UBC, NEDD4, GJA1, TGFB1, Zwint, FCHO2, ITSN1, ITSN2, ELAVL1, RAD23A, UBQLN2, EPN3, SH3BP4, AP1B1, NUMB, SPG20, TFAP2A, ABL1, AP2B1, IQGAP1, KRT85, KRT1, KRT10, KRT2, AP2M1, KRT14, KRT86, KRT5, KRT6A, KRT16, KRT9, HSPA8, KRT35, HSPA9, KRT17, KRT33B, KRT83, BMP2K, KRT34, KRT82, NONO, KRT38, KRT75, KRT79, PRDX1, KRT36, KRT32, MAP4, HSPA1L, HSPA1B, KRT37, HSPA5, KRT73, AP2S1, NECAP2, TRAF2, MCCC2, KRT4, ACTB, KRT3, VPRBP, TUBB, HIST4H4, PCCB, KRTAP9-3, NECAP1, VSIG8, CCT3, CRKL, Dab2, FN1, VCAM1, Fcho2, LAPTM5, ITGA4, OPTN, RABL6, EPHA2, CORO7, UBI4, AGFG2, SLC25A41, AURKA, SPC25, Numb, NTRK1, TMEM17, XPO1, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PICALM, PDLIM7, SYNPO, MAPRE1, LIMA1, GTSE1, ANLN, MYO19, Actb, Flot1, Myh9, Myo1c, Tpm1, Lima1, Calml3, Myh10, Sec24c, Flnb, MAPK14, AP1G1, MYO6, SPOPL, SGIP1, FCHO1, CDH1, RUNDC3A, LSR, STAMBPL1, CCDC172, OXCT1, MTNR1A, RNF26, fcho1, HNRNPL, STK40, DYRK1A, PLK1, DVL2, MIB1, ORF7a, ESR1, TRIM56, KIF14, Rnf183, DNAJC5, DDX58, ACBD5, CLTA, VASP, NAA40, RNPS1, MACC1, SYCE1, RARRES1, POLR2J3, EPS15L1, C15orf59, ZCCHC10, SYNC, INO80E, DNAJC6, RUFY4,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
EPS15
FAF1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	EPS15	chr1:51984870	chr1:51323669	ENST00000371733	-	1	25	2_330	11.0	897.0	DAB2

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Related Drugs to EPS15-FAF1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to EPS15-FAF1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source