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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ITCH-DEFB118

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ITCH-DEFB118
	FusionPDB ID: 40349
	FusionGDB2.0 ID: 40349
		Hgene	Tgene
	Gene symbol	ITCH	DEFB118
	Gene ID	83737	117285
	Gene name	itchy E3 ubiquitin protein ligase	defensin beta 118
	Synonyms	ADMFD\|AIF4\|AIP4\|NAPP1	C20orf63\|DEFB-18\|ESC42\|ESP13.6
	Cytomap	20q11.22	20q11.21
	Type of gene	protein-coding	protein-coding
	Description	E3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homolog	beta-defensin 118defensin, beta 18epididymal secretory protein 13.6epididymis secretory sperm binding proteinepididymus specific clone 42
	Modification date	20200329	20200313
	UniProtAcc	Q96J02	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000483727, ENST00000262650, ENST00000374864, ENST00000535650,	ENST00000253381,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	27 X 16 X 18=7776	5 X 2 X 6=60
	# samples	44	7
	** MAII score	log2(44/7776*10)=-4.14345279008112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ITCH [Title/Abstract] AND DEFB118 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ITCH(33059320)-DEFB118(29960660), # samples:3
Anticipated loss of major functional domain due to fusion event.	ITCH-DEFB118 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. ITCH-DEFB118 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. ITCH-DEFB118 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. ITCH-DEFB118 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.

* 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	ITCH	GO:0006511	ubiquitin-dependent protein catabolic process	15678106
Hgene	ITCH	GO:0016567	protein ubiquitination	17592138\|25631046
Hgene	ITCH	GO:0035519	protein K29-linked ubiquitination	17028573\|18628966
Hgene	ITCH	GO:0070534	protein K63-linked ubiquitination	18718448\|19592251
Hgene	ITCH	GO:0070936	protein K48-linked ubiquitination	19881509
Tgene	DEFB118	GO:0031640	killing of cells of other organism	15033915
Tgene	DEFB118	GO:0050829	defense response to Gram-negative bacterium	15033915
Tgene	DEFB118	GO:0051673	membrane disruption in other organism	15033915
Tgene	DEFB118	GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	15033915

Fusion gene breakpoints across ITCH (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 DEFB118 (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	HNSC	TCGA-CV-5443-01A	ITCH	chr20	33059320	-	DEFB118	chr20	29960660	+
ChimerDB4	HNSC	TCGA-CV-5443-01A	ITCH	chr20	33059320	+	DEFB118	chr20	29960660	+
ChimerDB4	HNSC	TCGA-CV-5443	ITCH	chr20	33059320	+	DEFB118	chr20	29960659	+
ChimerDB4	HNSC	TCGA-CV-5443	ITCH	chr20	33059320	+	DEFB118	chr20	29960660	+

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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)
ENST00000374864	ITCH	chr20	33059320	+	ENST00000253381	DEFB118	chr20	29960660	+	2849	1782	213	1856	547
ENST00000535650	ITCH	chr20	33059320	+	ENST00000253381	DEFB118	chr20	29960660	+	2666	1599	294	1673	459
ENST00000262650	ITCH	chr20	33059320	+	ENST00000253381	DEFB118	chr20	29960660	+	2895	1828	136	1902	588
ENST00000374864	ITCH	chr20	33059320	+	ENST00000253381	DEFB118	chr20	29960659	+	2849	1782	213	1856	547
ENST00000535650	ITCH	chr20	33059320	+	ENST00000253381	DEFB118	chr20	29960659	+	2666	1599	294	1673	459
ENST00000262650	ITCH	chr20	33059320	+	ENST00000253381	DEFB118	chr20	29960659	+	2895	1828	136	1902	588

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
ENST00000374864	ENST00000253381	ITCH	chr20	33059320	+	DEFB118	chr20	29960660	+	0.001011077	0.9989889
ENST00000535650	ENST00000253381	ITCH	chr20	33059320	+	DEFB118	chr20	29960660	+	0.001140054	0.99886
ENST00000262650	ENST00000253381	ITCH	chr20	33059320	+	DEFB118	chr20	29960660	+	0.001471095	0.99852884
ENST00000374864	ENST00000253381	ITCH	chr20	33059320	+	DEFB118	chr20	29960659	+	0.001011077	0.9989889
ENST00000535650	ENST00000253381	ITCH	chr20	33059320	+	DEFB118	chr20	29960659	+	0.001140054	0.99886
ENST00000262650	ENST00000253381	ITCH	chr20	33059320	+	DEFB118	chr20	29960659	+	0.001471095	0.99852884

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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

>40349_40349_1_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000262650_DEFB118_chr20_29960659_ENST00000253381_length(amino acids)=588AA_BP=
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLK
SDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSENGVSLCLPRLECNSAISAHCNL
CLPGLSDSPISASRVAGFTGASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASV
NGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPL
PPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDS
NGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQ

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

>40349_40349_2_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000262650_DEFB118_chr20_29960660_ENST00000253381_length(amino acids)=588AA_BP=
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLK
SDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSENGVSLCLPRLECNSAISAHCNL
CLPGLSDSPISASRVAGFTGASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASV
NGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPL
PPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDS
NGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQ

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

>40349_40349_3_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000374864_DEFB118_chr20_29960659_ENST00000253381_length(amino acids)=547AA_BP=522
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLK
SDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSESASQNDDGSRSKDETRVSTNGS
DDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTI
SGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQ
LQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVD
GIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQPIVVKKNAGTDQGTAGN

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

>40349_40349_4_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000374864_DEFB118_chr20_29960660_ENST00000253381_length(amino acids)=547AA_BP=522
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLK
SDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSESASQNDDGSRSKDETRVSTNGS
DDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTI
SGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQ
LQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVD
GIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQPIVVKKNAGTDQGTAGN

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

>40349_40349_5_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000535650_DEFB118_chr20_29960659_ENST00000253381_length(amino acids)=459AA_BP=434
MKSDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSESASQNDDGSRSKDETRVSTN
GSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPL
TISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQ
WQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFT
VDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQPIVVKKNAGTDQGTA

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

>40349_40349_6_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000535650_DEFB118_chr20_29960660_ENST00000253381_length(amino acids)=459AA_BP=434
MKSDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSESASQNDDGSRSKDETRVSTN
GSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPL
TISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQ
WQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFT
VDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQPIVVKKNAGTDQGTA

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

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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/chr20:33059320/chr20:29960660)
- 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
ITCH Q96J02	.
FUNCTION: Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14602072, PubMed:17028573, PubMed:16387660, PubMed:18718448, PubMed:18718449, PubMed:11046148, PubMed:19592251, PubMed:19116316, PubMed:19881509, PubMed:20491914, PubMed:20392206, PubMed:20068034, PubMed:23146885, PubMed:24790097, PubMed:25631046). Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses (PubMed:19881509). Ubiquitinates MAVS through 'Lys-48'-linked conjugation resulting in MAVS proteasomal degradation (PubMed:19881509). Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity (PubMed:23146885). Ubiquitinates PI4K2A and negatively regulates its catalytic activity (PubMed:23146885). Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:14602072, PubMed:23146885). Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through 'Lys-29'-linked polyubiquitination (PubMed:17028573, PubMed:18628966, PubMed:23886940). Ubiquitinates SNX9 (PubMed:20491914). Ubiquitinates MAP3K7 through 'Lys-48'-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP (PubMed:20068034). Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID (PubMed:20392206). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Inhibits the replication of influenza A virus (IAV) via ubiquitination of IAV matrix protein 1 (M1) through 'Lys-48'-linked conjugation resulting in M1 proteasomal degradation (PubMed:30328013). {ECO:0000250\|UniProtKB:Q8C863, ECO:0000269\|PubMed:14602072, ECO:0000269\|PubMed:16387660, ECO:0000269\|PubMed:17028573, ECO:0000269\|PubMed:18628966, ECO:0000269\|PubMed:18718448, ECO:0000269\|PubMed:18718449, ECO:0000269\|PubMed:19116316, ECO:0000269\|PubMed:19131965, ECO:0000269\|PubMed:19592251, ECO:0000269\|PubMed:19881509, ECO:0000269\|PubMed:20068034, ECO:0000269\|PubMed:20392206, ECO:0000269\|PubMed:20491914, ECO:0000269\|PubMed:23146885, ECO:0000269\|PubMed:23886940, ECO:0000269\|PubMed:24790097, ECO:0000269\|PubMed:25631046, ECO:0000269\|PubMed:30328013}.	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

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

252_267

564.0

904.0

Compositional bias

Note=Arg/Pro-rich (PRR domain)

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

252_267

523.0

863.0

Compositional bias

Note=Arg/Pro-rich (PRR domain)

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

252_267

413.0

753.0

Compositional bias

Note=Arg/Pro-rich (PRR domain)

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

252_267

564.0

904.0

Compositional bias

Note=Arg/Pro-rich (PRR domain)

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

252_267

523.0

863.0

Compositional bias

Note=Arg/Pro-rich (PRR domain)

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

252_267

413.0

753.0

Compositional bias

Note=Arg/Pro-rich (PRR domain)

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

1_115

564.0

904.0

Domain

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

326_359

564.0

904.0

Domain

WW 1

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

358_391

564.0

904.0

Domain

WW 2

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

438_471

564.0

904.0

Domain

WW 3

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

478_511

564.0

904.0

Domain

WW 4

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

1_115

523.0

863.0

Domain

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

326_359

523.0

863.0

Domain

WW 1

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

358_391

523.0

863.0

Domain

WW 2

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

438_471

523.0

863.0

Domain

WW 3

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

478_511

523.0

863.0

Domain

WW 4

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

1_115

413.0

753.0

Domain

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

326_359

413.0

753.0

Domain

WW 1

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

358_391

413.0

753.0

Domain

WW 2

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

1_115

564.0

904.0

Domain

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

326_359

564.0

904.0

Domain

WW 1

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

358_391

564.0

904.0

Domain

WW 2

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

438_471

564.0

904.0

Domain

WW 3

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

478_511

564.0

904.0

Domain

WW 4

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

1_115

523.0

863.0

Domain

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

326_359

523.0

863.0

Domain

WW 1

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

358_391

523.0

863.0

Domain

WW 2

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

438_471

523.0

863.0

Domain

WW 3

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

478_511

523.0

863.0

Domain

WW 4

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

1_115

413.0

753.0

Domain

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

326_359

413.0

753.0

Domain

WW 1

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

358_391

413.0

753.0

Domain

WW 2

- 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

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

569_903

564.0

904.0

Domain

HECT

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

569_903

523.0

863.0

Domain

HECT

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

438_471

413.0

753.0

Domain

WW 3

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

478_511

413.0

753.0

Domain

WW 4

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

569_903

413.0

753.0

Domain

HECT

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

569_903

564.0

904.0

Domain

HECT

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

569_903

523.0

863.0

Domain

HECT

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

438_471

413.0

753.0

Domain

WW 3

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

478_511

413.0

753.0

Domain

WW 4

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

569_903

413.0

753.0

Domain

HECT

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000262650

574_583

564.0

904.0

Region

MAP kinase docking site

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000374864

574_583

523.0

863.0

Region

MAP kinase docking site

Hgene

ITCH

chr20:33059320

chr20:29960659

ENST00000535650

574_583

413.0

753.0

Region

MAP kinase docking site

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000262650

574_583

564.0

904.0

Region

MAP kinase docking site

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000374864

574_583

523.0

863.0

Region

MAP kinase docking site

Hgene

ITCH

chr20:33059320

chr20:29960660

ENST00000535650

574_583

413.0

753.0

Region

MAP kinase docking site

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1250_ITCH_33059320_DEFB118_29960660_1250_ITCH_33059320_DEFB118_29960660_ranked_0.pdb	ITCH	33059320	33059320	ENST00000253381	DEFB118	chr20	29960660	+	MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLK SDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSENGVSLCLPRLECNSAISAHCNL CLPGLSDSPISASRVAGFTGASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASV NGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPL PPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDS NGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQ	588

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ITCH_pLDDT.png

DEFB118_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
ITCH
DEFB118

- 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 ITCH-DEFB118

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to ITCH-DEFB118

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