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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:AFF1-WWOX

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: AFF1-WWOX
	FusionPDB ID: 2672
	FusionGDB2.0 ID: 2672
		Hgene	Tgene
	Gene symbol	AFF1	WWOX
	Gene ID	4299	51741
	Gene name	AF4/FMR2 family member 1	WW domain containing oxidoreductase
	Synonyms	AF4\|MLLT2\|PBM1	D16S432E\|EIEE28\|FOR\|FRA16D\|HHCMA56\|PRO0128\|SCAR12\|SDR41C1\|WOX1
	Cytomap	4q21.3-q22.1	16q23.1-q23.2
	Type of gene	protein-coding	protein-coding
	Description	AF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4	WW domain-containing oxidoreductaseWW domain-containing protein WWOXfragile site FRA16D oxidoreductaseshort chain dehydrogenase/reductase family 41C member 1
	Modification date	20200313	20200313
	UniProtAcc	P51825	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000307808, ENST00000395146, ENST00000544085, ENST00000511996,	ENST00000355860, ENST00000408984, ENST00000565791, ENST00000569818, ENST00000402655, ENST00000406884, ENST00000566780, ENST00000539474,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	27 X 51 X 13=17901	30 X 23 X 10=6900
	# samples	68	36
	** MAII score	log2(68/17901*10)=-4.71836162613835 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(36/6900*10)=-4.26052755022322 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: AFF1 [Title/Abstract] AND WWOX [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	AFF1(88036451)-WWOX(79245505), # samples:2
Anticipated loss of major functional domain due to fusion event.	AFF1-WWOX 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. AFF1-WWOX 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. AFF1-WWOX 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. AFF1-WWOX 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. AFF1-WWOX seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. AFF1-WWOX seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AFF1-WWOX seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. AFF1-WWOX seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
Tgene	WWOX	GO:0030178	negative regulation of Wnt signaling pathway	19465938
Tgene	WWOX	GO:0071560	cellular response to transforming growth factor beta stimulus	19366691

Fusion gene breakpoints across AFF1 (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 WWOX (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	SARC	TCGA-DX-AB35-01A	AFF1	chr4	88036451	-	WWOX	chr16	79245505	+
ChimerDB4	SARC	TCGA-DX-AB35-01A	AFF1	chr4	88036451	+	WWOX	chr16	79245505	+

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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)

ENST00000395146

AFF1

chr4

88036451

ENST00000539474

WWOX

chr16

79245505

3801

2741

266

2929

887

ENST00000307808

AFF1

chr4

88036451

ENST00000539474

WWOX

chr16

79245505

3925

2865

420

3053

877

ENST00000544085

AFF1

chr4

88036451

ENST00000539474

WWOX

chr16

79245505

2623

1563

132

1751

539

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
ENST00000395146	ENST00000539474	AFF1	chr4	88036451	+	WWOX	chr16	79245505	+	0.003471629	0.9965283
ENST00000307808	ENST00000539474	AFF1	chr4	88036451	+	WWOX	chr16	79245505	+	0.003928309	0.9960717
ENST00000544085	ENST00000539474	AFF1	chr4	88036451	+	WWOX	chr16	79245505	+	0.014390145	0.9856098

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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

>2672_2672_1_AFF1-WWOX_AFF1_chr4_88036451_ENST00000307808_WWOX_chr16_79245505_ENST00000539474_length(amino acids)=877AA_BP=815
MAAQSSLYNDDRNLLRIREKERRNQEAHQEKEAFPEKIPLFGEPYKTAKGDELSSRIQNMLGNYEEVKEFLSTKSHTHRLDASENRLGKP
KYPLIPDKGSSIPSSSFHTSVHHQSIHTPASGPLSVGNISHNPKMAQPRTEPMPSLHAKSCGPPDSQHLTQDRLGQEGFGSSHHKKGDRR
ADGDHCASVTDSAPERELSPLISLPSPVPPLSPIHSNQQTLPRTQGSSKVHGSSNNSKGYCPAKSPKDLAVKVHDKETPQDSLVAPAQPP
SQTFPPPSLPSKSVAMQQKPTAYVRPMDGQDQAPSESPELKPLPEDYRQQTFEKTDLKVPAKAKLTKLKMPSQSVEQTYSNEVHCVEEIL
KEMTHSWPPPLTAIHTPSTAEPSKFPFPTKDSQHVSSVTQNQKQYDTSSKTHSNSQQGTSSMLEDDLQLSDSEDSDSEQTPEKPPSSSAP
PSAPQSLPEPVASAHSSSAESESTSDSDSSSDSESESSSSDSEENEPLETPAPEPEPPTTNKWQLDNWLTKVSQPAAPPEGPRSTEPPRR
HPESKGSSDSATSQEHSESKDPPPKSSSKAPRAPPEAPHPGKRSCQKSPAQQEPPQRQTVGTKQPKKPVKASARAGSRTSLQGEREPGLL
PYGSRDQTSKDKPKVKTKGRPRAAASNEPKPAVPPSSEKKKHKSSLPAPSKALSGPEPAKDNVEDRTPEHFALVPLTESQGPPHSGSGSR
TSGCRQAVVVQEDSRKDRLPLPLRDTKLLSPLRDTPPPQSLMVKITLDLLSRIPQPPGKGSRQRKAEDKQPPAGKKHSSEKRSSDSSSKL

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

>2672_2672_2_AFF1-WWOX_AFF1_chr4_88036451_ENST00000395146_WWOX_chr16_79245505_ENST00000539474_length(amino acids)=887AA_BP=825
METMAFTERVNSSGNSLYNDDRNLLRIREKERRNQEAHQEKEAFPEKIPLFGEPYKTAKGDELSSRIQNMLGNYEEVKEFLSTKSHTHRL
DASENRLGKPKYPLIPDKGSSIPSSSFHTSVHHQSIHTPASGPLSVGNISHNPKMAQPRTEPMPSLHAKSCGPPDSQHLTQDRLGQEGFG
SSHHKKGDRRADGDHCASVTDSAPERELSPLISLPSPVPPLSPIHSNQQTLPRTQGSSKVHGSSNNSKGYCPAKSPKDLAVKVHDKETPQ
DSLVAPAQPPSQTFPPPSLPSKSVAMQQKPTAYVRPMDGQDQAPSESPELKPLPEDYRQQTFEKTDLKVPAKAKLTKLKMPSQSVEQTYS
NEVHCVEEILKEMTHSWPPPLTAIHTPSTAEPSKFPFPTKDSQHVSSVTQNQKQYDTSSKTHSNSQQGTSSMLEDDLQLSDSEDSDSEQT
PEKPPSSSAPPSAPQSLPEPVASAHSSSAESESTSDSDSSSDSESESSSSDSEENEPLETPAPEPEPPTTNKWQLDNWLTKVSQPAAPPE
GPRSTEPPRRHPESKGSSDSATSQEHSESKDPPPKSSSKAPRAPPEAPHPGKRSCQKSPAQQEPPQRQTVGTKQPKKPVKASARAGSRTS
LQGEREPGLLPYGSRDQTSKDKPKVKTKGRPRAAASNEPKPAVPPSSEKKKHKSSLPAPSKALSGPEPAKDNVEDRTPEHFALVPLTESQ
GPPHSGSGSRTSGCRQAVVVQEDSRKDRLPLPLRDTKLLSPLRDTPPPQSLMVKITLDLLSRIPQPPGKGSRQRKAEDKQPPAGKKHSSE

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

>2672_2672_3_AFF1-WWOX_AFF1_chr4_88036451_ENST00000544085_WWOX_chr16_79245505_ENST00000539474_length(amino acids)=539AA_BP=477
MNYGSPVKQTYSNEVHCVEEILKEMTHSWPPPLTAIHTPSTAEPSKFPFPTKDSQHVSSVTQNQKQYDTSSKTHSNSQQGTSSMLEDDLQ
LSDSEDSDSEQTPEKPPSSSAPPSAPQSLPEPVASAHSSSAESESTSDSDSSSDSESESSSSDSEENEPLETPAPEPEPPTTNKWQLDNW
LTKVSQPAAPPEGPRSTEPPRRHPESKGSSDSATSQEHSESKDPPPKSSSKAPRAPPEAPHPGKRSCQKSPAQQEPPQRQTVGTKQPKKP
VKASARAGSRTSLQGEREPGLLPYGSRDQTSKDKPKVKTKGRPRAAASNEPKPAVPPSSEKKKHKSSLPAPSKALSGPEPAKDNVEDRTP
EHFALVPLTESQGPPHSGSGSRTSGCRQAVVVQEDSRKDRLPLPLRDTKLLSPLRDTPPPQSLMVKITLDLLSRIPQPPGKGSRQRKAED

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

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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/chr4:88036451/chr16:79245505)
- 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
AFF1 P51825	.
	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000307808

483_492

815.0

1211.0

Compositional bias

Note=Poly-Ser

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000395146

483_492

822.0

1219.0

Compositional bias

Note=Poly-Ser

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000355860

16_49

190.0

Domain

WW 1

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000355860

57_90

190.0

Domain

WW 2

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000408984

16_49

311.6666666666667

Domain

WW 1

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000408984

57_90

311.6666666666667

Domain

WW 2

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000569818

16_49

37.0

Domain

WW 1

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000569818

57_90

37.0

Domain

WW 2

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000355860

50_55

190.0

Motif

Nuclear localization signal

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000408984

50_55

311.6666666666667

Motif

Nuclear localization signal

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000569818

50_55

37.0

Motif

Nuclear localization signal

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000355860

131_137

190.0

Nucleotide binding

NADP

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000408984

131_137

311.6666666666667

Nucleotide binding

NADP

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000569818

131_137

37.0

Nucleotide binding

NADP

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000355860

209_273

190.0

Region

Mediates targeting to the mitochondria

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000402655

209_273

136.33333333333334

312.0

Region

Mediates targeting to the mitochondria

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000406884

209_273

172.0

235.0

Region

Mediates targeting to the mitochondria

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000408984

209_273

311.6666666666667

Region

Mediates targeting to the mitochondria

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000569818

209_273

37.0

Region

Mediates targeting to the mitochondria

- 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

AFF1

chr4:88036451

chr16:79245505

ENST00000307808

835_843

815.0

1211.0

Compositional bias

Note=Poly-Ser

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000307808

866_869

815.0

1211.0

Compositional bias

Note=Poly-Pro

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000307808

871_874

815.0

1211.0

Compositional bias

Note=Poly-Ser

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000395146

835_843

822.0

1219.0

Compositional bias

Note=Poly-Ser

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000395146

866_869

822.0

1219.0

Compositional bias

Note=Poly-Pro

Hgene

AFF1

chr4:88036451

chr16:79245505

ENST00000395146

871_874

822.0

1219.0

Compositional bias

Note=Poly-Ser

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000402655

16_49

136.33333333333334

312.0

Domain

WW 1

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000402655

57_90

136.33333333333334

312.0

Domain

WW 2

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000406884

16_49

172.0

235.0

Domain

WW 1

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000406884

57_90

172.0

235.0

Domain

WW 2

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000566780

16_49

352.0

415.0

Domain

WW 1

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000566780

57_90

352.0

415.0

Domain

WW 2

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000402655

50_55

136.33333333333334

312.0

Motif

Nuclear localization signal

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000406884

50_55

172.0

235.0

Motif

Nuclear localization signal

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000566780

50_55

352.0

415.0

Motif

Nuclear localization signal

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000402655

131_137

136.33333333333334

312.0

Nucleotide binding

NADP

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000406884

131_137

172.0

235.0

Nucleotide binding

NADP

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000566780

131_137

352.0

415.0

Nucleotide binding

NADP

Tgene

WWOX

chr4:88036451

chr16:79245505

ENST00000566780

209_273

352.0

415.0

Region

Mediates targeting to the mitochondria

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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
AFF1	MLLT1, CCNT1, NT5E, MLLT3, CDK9, AFF4, KMT2A, AFF1, BRD4, RELA, NPM1, PCSK1, MLLT10, DOT1L, POLR2A, DDX6, HEXIM1, HIST3H3, NSD1, CARM1, SIAH1, SIAH2, SMAD9, tat, MED26, EAF1, ELL2, LARP7, ELL3, HDAC1, MYH7, SLC16A6, ZNF526, Mllt1, Mad2l1bp, Rrbp1, Rcc1, VDR, PIP4K2A, CAMKV, TRIM25, HNRNPL, ESR2, KIAA1429, SASH1, DYRK1A, ARFIP1, MRPL12, KIF20A, CCAR2, FGF12, PLCD3, EPB41L1, EPB41L3,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
AFF1
WWOX

- 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
Tgene	WWOX	chr4:88036451	chr16:79245505	ENST00000402655		3	5	125_414	136.33333333333334	312.0	MAPT
Tgene	WWOX	chr4:88036451	chr16:79245505	ENST00000406884		4	6	125_414	172.0	235.0	MAPT
Tgene	WWOX	chr4:88036451	chr16:79245505	ENST00000566780		7	9	125_414	352.0	415.0	MAPT

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Related Drugs to AFF1-WWOX

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 AFF1-WWOX

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