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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:FDFT1-DEFB135

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: FDFT1-DEFB135
	FusionPDB ID: 30043
	FusionGDB2.0 ID: 30043
		Hgene	Tgene
	Gene symbol	FDFT1	DEFB135
	Gene ID	2222	613209
	Gene name	farnesyl-diphosphate farnesyltransferase 1	defensin beta 135
	Synonyms	DGPT\|ERG9\|SQS\|SQSD\|SS	DEFB136
	Cytomap	8p23.1	8p23.1
	Type of gene	protein-coding	protein-coding
	Description	squalene synthaseFPP:FPP farnesyltransferasepresqualene-di-diphosphate synthasesqualene synthetase	beta-defensin 135beta-defensin 136
	Modification date	20200320	20200313
	UniProtAcc	P37268	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000446331, ENST00000220584, ENST00000525777, ENST00000525900, ENST00000528643, ENST00000538689, ENST00000443614, ENST00000528812, ENST00000530664,	ENST00000382208,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	16 X 12 X 9=1728	5 X 2 X 6=60
	# samples	20	8
	** MAII score	log2(20/1728*10)=-3.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/60*10)=0.415037499278844 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: FDFT1 [Title/Abstract] AND DEFB135 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	FDFT1(11696082)-DEFB135(11841930), # samples:2
Anticipated loss of major functional domain due to fusion event.	FDFT1-DEFB135 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. FDFT1-DEFB135 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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

Fusion gene breakpoints across FDFT1 (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 DEFB135 (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	LUAD	TCGA-35-5375-01A	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+
ChimerDB4	OV	TCGA-30-1860-01A	FDFT1	chr8	11696082	+	DEFB135	chr8	11841930	+
ChimerDB4	UCEC	TCGA-DI-A1NO-01A	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+

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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)
ENST00000538689	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	1020	850	376	933	185
ENST00000220584	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	902	732	222	815	197
ENST00000525900	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	726	556	67	639	190
ENST00000528812	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	1088	918	525	1001	158
ENST00000530664	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	956	786	345	869	174
ENST00000528643	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	830	660	369	743	124
ENST00000525777	FDFT1	chr8	11679387	+	ENST00000382208	DEFB135	chr8	11841930	+	894	724	433	807	124
ENST00000443614	FDFT1	chr8	11696082	+	ENST00000382208	DEFB135	chr8	11841930	+	1377	1207	94	1032	312
ENST00000528812	FDFT1	chr8	11696082	+	ENST00000382208	DEFB135	chr8	11841930	+	1997	1827	525	1475	316
ENST00000530664	FDFT1	chr8	11696082	+	ENST00000382208	DEFB135	chr8	11841930	+	1745	1575	345	1343	332
ENST00000538689	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	891	721	376	804	142
ENST00000220584	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	773	603	222	686	154
ENST00000443614	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	645	475	94	558	154
ENST00000525900	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	597	427	67	510	147
ENST00000528812	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	959	789	525	872	115
ENST00000530664	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	827	657	345	740	131
ENST00000528643	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	701	531	369	614	81
ENST00000525777	FDFT1	chr8	11667359	+	ENST00000382208	DEFB135	chr8	11841930	+	765	595	433	678	81

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
ENST00000538689	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.004440818	0.9955592
ENST00000220584	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.004799319	0.99520063
ENST00000525900	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.001739018	0.99826103
ENST00000528812	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.0053615	0.9946385
ENST00000530664	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.00501212	0.99498785
ENST00000528643	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.00996956	0.9900304
ENST00000525777	ENST00000382208	FDFT1	chr8	11679387	+	DEFB135	chr8	11841930	+	0.01595922	0.98404074
ENST00000443614	ENST00000382208	FDFT1	chr8	11696082	+	DEFB135	chr8	11841930	+	0.001281144	0.99871886
ENST00000528812	ENST00000382208	FDFT1	chr8	11696082	+	DEFB135	chr8	11841930	+	0.000323406	0.9996766
ENST00000530664	ENST00000382208	FDFT1	chr8	11696082	+	DEFB135	chr8	11841930	+	0.000394596	0.9996055
ENST00000538689	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.020664234	0.9793357
ENST00000220584	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.010395994	0.989604
ENST00000443614	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.008735449	0.9912646
ENST00000525900	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.004622113	0.9953779
ENST00000528812	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.027476922	0.9725231
ENST00000530664	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.027397243	0.9726027
ENST00000528643	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.070015855	0.9299842
ENST00000525777	ENST00000382208	FDFT1	chr8	11667359	+	DEFB135	chr8	11841930	+	0.27296746	0.7270326

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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

>30043_30043_1_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000220584_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=154AA_BP=0
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISV

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

>30043_30043_2_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000443614_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=154AA_BP=0
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISV

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

>30043_30043_3_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000525777_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=81AA_BP=1

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

>30043_30043_4_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000525900_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=147AA_BP=0
MEFVKCLGHPEEFYNLVRFRIGGKRKDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLL

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

>30043_30043_5_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000528643_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=81AA_BP=1

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

>30043_30043_6_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000528812_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=115AA_BP=1
MKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTVE

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

>30043_30043_7_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000530664_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=131AA_BP=1
MGSLSGQWVLDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFME

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

>30043_30043_8_FDFT1-DEFB135_FDFT1_chr8_11667359_ENST00000538689_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=142AA_BP=1
MKSVRPRTNQFRTHLDSTDSKDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHS

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

>30043_30043_9_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000220584_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=197AA_BP=0
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISV
EKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKVEVDPMSTYK

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

>30043_30043_10_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000525777_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=124AA_BP=1
MVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVT

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

>30043_30043_11_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000525900_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=190AA_BP=0
MEFVKCLGHPEEFYNLVRFRIGGKRKDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLL
HNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKVEVDPMSTYKKSLLHVG

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

>30043_30043_12_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000528643_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=124AA_BP=1
MVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVT

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

>30043_30043_13_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000528812_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=158AA_BP=1
MKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTIS

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

>30043_30043_14_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000530664_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=174AA_BP=1
MGSLSGQWVLDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFME

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

>30043_30043_15_FDFT1-DEFB135_FDFT1_chr8_11679387_ENST00000538689_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=185AA_BP=1
MKSVRPRTNQFRTHLDSTDSKDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHS
FLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKVEVDPMSTYKKSLLHVGDCKVL

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

>30043_30043_16_FDFT1-DEFB135_FDFT1_chr8_11696082_ENST00000443614_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=312AA_BP=
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISV
EKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLED
QQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQVFKGA

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

>30043_30043_17_FDFT1-DEFB135_FDFT1_chr8_11696082_ENST00000528812_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=316AA_BP=
MKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTIS
LEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRD
YLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQV

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

>30043_30043_18_FDFT1-DEFB135_FDFT1_chr8_11696082_ENST00000530664_DEFB135_chr8_11841930_ENST00000382208_length(amino acids)=332AA_BP=
MGSLSGQWVLDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFME
SKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTER
ANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQ

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

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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/chr8:11696082/chr8:11841930)
- 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
FDFT1 P37268	.
FUNCTION: Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway. {ECO:0000269\|PubMed:10896663, ECO:0000269\|PubMed:24531458}.	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

- 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

FDFT1

chr8:11667359

chr8:11841930

ENST00000220584

284_304

127.0

418.0

Transmembrane

Helical

Hgene

FDFT1

chr8:11667359

chr8:11841930

ENST00000220584

384_404

127.0

418.0

Transmembrane

Helical

Hgene

FDFT1

chr8:11679387

chr8:11841930

ENST00000220584

284_304

170.0

418.0

Transmembrane

Helical

Hgene

FDFT1

chr8:11679387

chr8:11841930

ENST00000220584

384_404

170.0

418.0

Transmembrane

Helical

Hgene

FDFT1

chr8:11696082

chr8:11841930

ENST00000220584

284_304

418.0

Transmembrane

Helical

Hgene

FDFT1

chr8:11696082

chr8:11841930

ENST00000220584

384_404

418.0

Transmembrane

Helical

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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

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
FDFT1
DEFB135

- 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

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Related Drugs to FDFT1-DEFB135

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 FDFT1-DEFB135

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