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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ITCH-DEFB118 (FusionGDB2 ID:HG83737TG117285)

Fusion Gene Summary for ITCH-DEFB118

check button Fusion gene summary
Fusion gene informationFusion gene name: ITCH-DEFB118
Fusion gene ID: hg83737tg117285
HgeneTgene
Gene symbol

ITCH

DEFB118

Gene ID

83737

117285

Gene nameitchy E3 ubiquitin protein ligasedefensin beta 118
SynonymsADMFD|AIF4|AIP4|NAPP1C20orf63|DEFB-18|ESC42|ESP13.6
Cytomap('ITCH')('DEFB118')

20q11.22

20q11.21

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homologbeta-defensin 118defensin, beta 18epididymal secretory protein 13.6epididymis secretory sperm binding proteinepididymus specific clone 42
Modification date2020032920200313
UniProtAcc

Q96J02

.
Ensembl transtripts involved in fusion geneENST00000483727, ENST00000262650, 
ENST00000374864, ENST00000535650, 
Fusion gene scores* DoF score27 X 16 X 18=77765 X 2 X 6=60
# samples 447
** MAII scorelog2(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

PubMed: ITCH [Title/Abstract] AND DEFB118 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITCH(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneITCH

GO:0006511

ubiquitin-dependent protein catabolic process

15678106

HgeneITCH

GO:0016567

protein ubiquitination

17592138|25631046

HgeneITCH

GO:0035519

protein K29-linked ubiquitination

17028573|18628966

HgeneITCH

GO:0070534

protein K63-linked ubiquitination

18718448|19592251

HgeneITCH

GO:0070936

protein K48-linked ubiquitination

19881509

TgeneDEFB118

GO:0031640

killing of cells of other organism

15033915

TgeneDEFB118

GO:0050829

defense response to Gram-negative bacterium

15033915

TgeneDEFB118

GO:0051673

membrane disruption in other organism

15033915

TgeneDEFB118

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

15033915


check buttonFusion 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.
all structure
check buttonFusion 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.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-CV-5443-01AITCHchr20

33059320

-DEFB118chr20

29960660

+
ChimerDB4HNSCTCGA-CV-5443-01AITCHchr20

33059320

+DEFB118chr20

29960660

+
ChimerDB4HNSCTCGA-CV-5443ITCHchr20

33059320

+DEFB118chr20

29960659

+
ChimerDB4HNSCTCGA-CV-5443ITCHchr20

33059320

+DEFB118chr20

29960660

+


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Fusion Gene ORF analysis for ITCH-DEFB118

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
3UTR-3CDSENST00000483727ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960660

+
3UTR-3CDSENST00000483727ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960659

+
In-frameENST00000262650ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960660

+
In-frameENST00000262650ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960659

+
In-frameENST00000374864ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960660

+
In-frameENST00000374864ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960659

+
In-frameENST00000535650ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960660

+
In-frameENST00000535650ENST00000253381ITCHchr20

33059320

+DEFB118chr20

29960659

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000374864ITCHchr2033059320+ENST00000253381DEFB118chr2029960660+284917822131856547
ENST00000535650ITCHchr2033059320+ENST00000253381DEFB118chr2029960660+266615992941673459
ENST00000262650ITCHchr2033059320+ENST00000253381DEFB118chr2029960660+289518281361902588
ENST00000374864ITCHchr2033059320+ENST00000253381DEFB118chr2029960659+284917822131856547
ENST00000535650ITCHchr2033059320+ENST00000253381DEFB118chr2029960659+266615992941673459
ENST00000262650ITCHchr2033059320+ENST00000253381DEFB118chr2029960659+289518281361902588

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000374864ENST00000253381ITCHchr2033059320+DEFB118chr2029960660+0.0010110770.9989889
ENST00000535650ENST00000253381ITCHchr2033059320+DEFB118chr2029960660+0.0011400540.99886
ENST00000262650ENST00000253381ITCHchr2033059320+DEFB118chr2029960660+0.0014710950.99852884
ENST00000374864ENST00000253381ITCHchr2033059320+DEFB118chr2029960659+0.0010110770.9989889
ENST00000535650ENST00000253381ITCHchr2033059320+DEFB118chr2029960659+0.0011400540.99886
ENST00000262650ENST00000253381ITCHchr2033059320+DEFB118chr2029960659+0.0014710950.99852884

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Fusion Genomic Features for ITCH-DEFB118


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ITCHchr2033059320+DEFB118chr2029960659+0.0002974610.9997025
ITCHchr2033059320+DEFB118chr2029960659+0.0002974610.9997025
ITCHchr2033059320+DEFB118chr2029960659+0.0002974610.9997025
ITCHchr2033059320+DEFB118chr2029960659+0.0002974610.9997025

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ITCH-DEFB118


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
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: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726252_267564904.0Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625252_267523863.0Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524252_267413753.0Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726252_267564904.0Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625252_267523863.0Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524252_267413753.0Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+17261_115564904.0DomainC2
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726326_359564904.0DomainWW 1
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726358_391564904.0DomainWW 2
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726438_471564904.0DomainWW 3
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726478_511564904.0DomainWW 4
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+16251_115523863.0DomainC2
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625326_359523863.0DomainWW 1
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625358_391523863.0DomainWW 2
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625438_471523863.0DomainWW 3
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625478_511523863.0DomainWW 4
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+15241_115413753.0DomainC2
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524326_359413753.0DomainWW 1
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524358_391413753.0DomainWW 2
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+17261_115564904.0DomainC2
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726326_359564904.0DomainWW 1
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726358_391564904.0DomainWW 2
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726438_471564904.0DomainWW 3
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726478_511564904.0DomainWW 4
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+16251_115523863.0DomainC2
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625326_359523863.0DomainWW 1
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625358_391523863.0DomainWW 2
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625438_471523863.0DomainWW 3
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625478_511523863.0DomainWW 4
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+15241_115413753.0DomainC2
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524326_359413753.0DomainWW 1
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524358_391413753.0DomainWW 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726569_903564904.0DomainHECT
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625569_903523863.0DomainHECT
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524438_471413753.0DomainWW 3
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524478_511413753.0DomainWW 4
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524569_903413753.0DomainHECT
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726569_903564904.0DomainHECT
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625569_903523863.0DomainHECT
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524438_471413753.0DomainWW 3
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524478_511413753.0DomainWW 4
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524569_903413753.0DomainHECT
HgeneITCHchr20:33059320chr20:29960659ENST00000262650+1726574_583564904.0RegionMAP kinase docking site
HgeneITCHchr20:33059320chr20:29960659ENST00000374864+1625574_583523863.0RegionMAP kinase docking site
HgeneITCHchr20:33059320chr20:29960659ENST00000535650+1524574_583413753.0RegionMAP kinase docking site
HgeneITCHchr20:33059320chr20:29960660ENST00000262650+1726574_583564904.0RegionMAP kinase docking site
HgeneITCHchr20:33059320chr20:29960660ENST00000374864+1625574_583523863.0RegionMAP kinase docking site
HgeneITCHchr20:33059320chr20:29960660ENST00000535650+1524574_583413753.0RegionMAP kinase docking site


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Fusion Gene Sequence for ITCH-DEFB118


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>40349_40349_1_ITCH-DEFB118_ITCH_chr20_33059320_ENST00000262650_DEFB118_chr20_29960659_ENST00000253381_length(transcript)=2895nt_BP=1828nt
GTCTAGGGACTGAGGAGTCGCCGCCGCCCCGAGTCCCGGTACCATGCATTTCACGGTGGCCTTGTGGAGACAACGCCTTAACCCAAGGAA
GTGACTCAAACTGTGAGAACTTCAGGTTTTCCAACCTATTGGTGGTATGTCTGACAGTGGATCACAACTTGGTTCAATGGGTAGCCTCAC
CATGAAATCACAGCTTCAGATCACTGTCATCTCAGCAAAACTTAAGGAAAATAAGAAGAATTGGTTTGGACCAAGTCCTTACGTAGAGGT
CACAGTAGATGGACAGTCAAAGAAGACAGAAAAATGCAACAACACAAACAGTCCCAAGTGGAAGCAACCCCTTACAGTTATCGTTACCCC
TGTGAGTAAATTACATTTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAAC
ATTAAAGTCAAACAATATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTT
GTCAATTTGTCTTGATGGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAATGGGGTTTCGCTCTGTTT
GCCCAGGCTGGAGTGCAATAGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGTGATTCTCCTATCTCAGCCTCCCGAGT
AGCTGGGTTTACAGGTGCTTCTCAGAATGATGATGGCTCCAGATCCAAGGATGAAACAAGAGTGAGCACAAATGGATCAGATGACCCTGA
AGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCTCCATCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAG
ACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTCAATGGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTAC
AGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGAGCAACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTC
AGGCCCTAGGCCATTAAATCCTGTAACTCAAGCTCCCTTGCCACCTGGTTGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGT
AGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTACCTCCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTA
TTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACACTGGAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAG
TCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGGAATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGA
TCCTCTTGGTCCATTGCCACCTGGATGGGAGAAGAGAACAGACAGCAATGGCAGAGTATATTTCGTCAACCACAACACACGAATTACACA
ATGGGAAGACCCCAGAAGTCAAGGTCAATTAAATGAAAAGCCCTTACCTGAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATA
TTTTGTGGACCACAATAGAAGAACTACCACCTATATAGATCCCCGCACAGGAAAATCTGCCCTAGACAATGGACCTCAGATAGCCTATGT
TCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAGCAACTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAA
AACATTGTTTGAGGATTCCTTTCAACAGCCTATAGTGGTGAAAAAAAATGCTGGAACAGATCAGGGCACTGCAGGAAACAATGCAAAGAT
GGAGAAGCAGTGAAAGATACATGCAAAAATCTTCGAGCTTGCTGCATTCCATCCAATGAAGACCACAGGCGAGTTCCTGCGACATCTCCC
ACACCCTTGAGTGACTCAACACCAGGAATTATTGATGATATTTTAACAGTAAGGTTCACGACAGACTACTTTGAAGTAAGCAGCAAGAAA
GATATGGTTGAAGAGTCTGAGGCGGGAAGGGGAACTGAGACCTCTCTTCCAAATGTTCACCATAGCTCATGACTTCCTCTCGGCTATCAC
TCACCCCTGTCCTCAGAGTGATAAACTAAGTCACATACAGATAAAGCACTGAAAACACCACAGTGACCCTCCCACCCCCCACCAATATGT
AATTCTATTAATAGAAACAGCTGTGTAAAGAAGTCTAAAATTTTCACTATTTCCAATGATAAACTCTTCAGTGCTCTTCTTGAAATGTCA
CATTATTTCCACAACAAGTTATAACCTATTTTTAGTATTTCTTGTTTGCTAGTGACCTATGCACAACTTCAATAGCTTAGTTAGCTATTC
CAACAACAATTTCTTCATGTATCGTTCTGTCTTCTCAACAGCTGTCTTCATGGCAGCATAAGTGGTCATGATCAAAATTCTAAATCTTTG
CATCTGTGAGAGTAGCTACTATGACACTAAAAGCTTTTTTTCTAGAACAGGAGACACTTCAGGTGAAAGCATTCATTCTCCTACTAACTA
TGGCCTTGGAGCCAGGTTTTATCTCTCACTGTAGGAAATTGGCCGCCCCAGGTGTGAGCTATGAAGACTCCTTTTTGCCCCAGTGGCTTT
GGGGTTGAAATGCTGTCGAAAAGCTTTTATGGCTCTGTAGACCCATCTTTTTGACCAAGCCTTGATCACACATGGACATCCAAGGGTAAT
CATGGACCCCCAATTGTGGGTGAAAGGATGGATCATTTATCTACCTGATTACTGAGAGCTTTATTTGTCTCCCTCTGATAGCAAAAAAAA

>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(transcript)=2895nt_BP=1828nt
GTCTAGGGACTGAGGAGTCGCCGCCGCCCCGAGTCCCGGTACCATGCATTTCACGGTGGCCTTGTGGAGACAACGCCTTAACCCAAGGAA
GTGACTCAAACTGTGAGAACTTCAGGTTTTCCAACCTATTGGTGGTATGTCTGACAGTGGATCACAACTTGGTTCAATGGGTAGCCTCAC
CATGAAATCACAGCTTCAGATCACTGTCATCTCAGCAAAACTTAAGGAAAATAAGAAGAATTGGTTTGGACCAAGTCCTTACGTAGAGGT
CACAGTAGATGGACAGTCAAAGAAGACAGAAAAATGCAACAACACAAACAGTCCCAAGTGGAAGCAACCCCTTACAGTTATCGTTACCCC
TGTGAGTAAATTACATTTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAAC
ATTAAAGTCAAACAATATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTT
GTCAATTTGTCTTGATGGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAATGGGGTTTCGCTCTGTTT
GCCCAGGCTGGAGTGCAATAGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGTGATTCTCCTATCTCAGCCTCCCGAGT
AGCTGGGTTTACAGGTGCTTCTCAGAATGATGATGGCTCCAGATCCAAGGATGAAACAAGAGTGAGCACAAATGGATCAGATGACCCTGA
AGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCTCCATCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAG
ACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTCAATGGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTAC
AGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGAGCAACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTC
AGGCCCTAGGCCATTAAATCCTGTAACTCAAGCTCCCTTGCCACCTGGTTGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGT
AGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTACCTCCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTA
TTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACACTGGAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAG
TCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGGAATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGA
TCCTCTTGGTCCATTGCCACCTGGATGGGAGAAGAGAACAGACAGCAATGGCAGAGTATATTTCGTCAACCACAACACACGAATTACACA
ATGGGAAGACCCCAGAAGTCAAGGTCAATTAAATGAAAAGCCCTTACCTGAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATA
TTTTGTGGACCACAATAGAAGAACTACCACCTATATAGATCCCCGCACAGGAAAATCTGCCCTAGACAATGGACCTCAGATAGCCTATGT
TCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAGCAACTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAA
AACATTGTTTGAGGATTCCTTTCAACAGCCTATAGTGGTGAAAAAAAATGCTGGAACAGATCAGGGCACTGCAGGAAACAATGCAAAGAT
GGAGAAGCAGTGAAAGATACATGCAAAAATCTTCGAGCTTGCTGCATTCCATCCAATGAAGACCACAGGCGAGTTCCTGCGACATCTCCC
ACACCCTTGAGTGACTCAACACCAGGAATTATTGATGATATTTTAACAGTAAGGTTCACGACAGACTACTTTGAAGTAAGCAGCAAGAAA
GATATGGTTGAAGAGTCTGAGGCGGGAAGGGGAACTGAGACCTCTCTTCCAAATGTTCACCATAGCTCATGACTTCCTCTCGGCTATCAC
TCACCCCTGTCCTCAGAGTGATAAACTAAGTCACATACAGATAAAGCACTGAAAACACCACAGTGACCCTCCCACCCCCCACCAATATGT
AATTCTATTAATAGAAACAGCTGTGTAAAGAAGTCTAAAATTTTCACTATTTCCAATGATAAACTCTTCAGTGCTCTTCTTGAAATGTCA
CATTATTTCCACAACAAGTTATAACCTATTTTTAGTATTTCTTGTTTGCTAGTGACCTATGCACAACTTCAATAGCTTAGTTAGCTATTC
CAACAACAATTTCTTCATGTATCGTTCTGTCTTCTCAACAGCTGTCTTCATGGCAGCATAAGTGGTCATGATCAAAATTCTAAATCTTTG
CATCTGTGAGAGTAGCTACTATGACACTAAAAGCTTTTTTTCTAGAACAGGAGACACTTCAGGTGAAAGCATTCATTCTCCTACTAACTA
TGGCCTTGGAGCCAGGTTTTATCTCTCACTGTAGGAAATTGGCCGCCCCAGGTGTGAGCTATGAAGACTCCTTTTTGCCCCAGTGGCTTT
GGGGTTGAAATGCTGTCGAAAAGCTTTTATGGCTCTGTAGACCCATCTTTTTGACCAAGCCTTGATCACACATGGACATCCAAGGGTAAT
CATGGACCCCCAATTGTGGGTGAAAGGATGGATCATTTATCTACCTGATTACTGAGAGCTTTATTTGTCTCCCTCTGATAGCAAAAAAAA

>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(transcript)=2849nt_BP=1782nt
GCGCTCAGGCGCCTGCGCTTTAGCTGCTAACTCGCTCTAGTAGCTGTGGTCGGGGCTCGGGACCGGCTGCCATCTTAGTCTAGGGACTGA
GGAGTCGCCGCCGCCCCGAGTCCCGGTACCATGCATTTCACGGTGGCCTTGTGGAGACAACGCCTTAACCCAAGGAAGTGACTCAAACTG
TGAGAACTTCAGGTTTTCCAACCTATTGGTGGTATGTCTGACAGTGGATCACAACTTGGTTCAATGGGTAGCCTCACCATGAAATCACAG
CTTCAGATCACTGTCATCTCAGCAAAACTTAAGGAAAATAAGAAGAATTGGTTTGGACCAAGTCCTTACGTAGAGGTCACAGTAGATGGA
CAGTCAAAGAAGACAGAAAAATGCAACAACACAAACAGTCCCAAGTGGAAGCAACCCCTTACAGTTATCGTTACCCCTGTGAGTAAATTA
CATTTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAACATTAAAGTCAAAC
AATATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTTGTCAATTTGTCTT
GATGGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAGTGCTTCTCAGAATGATGATGGCTCCAGATCC
AAGGATGAAACAAGAGTGAGCACAAATGGATCAGATGACCCTGAAGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCT
CCATCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAGACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTC
AATGGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTACAGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGA
GCAACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTCAGGCCCTAGGCCATTAAATCCTGTAACTCAAGCTCCCTTGCCACCT
GGTTGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGTAGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTA
CCTCCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTATTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACA
CTGGAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAGTCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTAT
GGGAATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGATCCTCTTGGTCCATTGCCACCTGGATGGGAGAAGAGAACAGACAGC
AATGGCAGAGTATATTTCGTCAACCACAACACACGAATTACACAATGGGAAGACCCCAGAAGTCAAGGTCAATTAAATGAAAAGCCCTTA
CCTGAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATATTTTGTGGACCACAATAGAAGAACTACCACCTATATAGATCCCCGC
ACAGGAAAATCTGCCCTAGACAATGGACCTCAGATAGCCTATGTTCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAG
CAACTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAAAACATTGTTTGAGGATTCCTTTCAACAGCCTATAGTGGTGAAAAAA
AATGCTGGAACAGATCAGGGCACTGCAGGAAACAATGCAAAGATGGAGAAGCAGTGAAAGATACATGCAAAAATCTTCGAGCTTGCTGCA
TTCCATCCAATGAAGACCACAGGCGAGTTCCTGCGACATCTCCCACACCCTTGAGTGACTCAACACCAGGAATTATTGATGATATTTTAA
CAGTAAGGTTCACGACAGACTACTTTGAAGTAAGCAGCAAGAAAGATATGGTTGAAGAGTCTGAGGCGGGAAGGGGAACTGAGACCTCTC
TTCCAAATGTTCACCATAGCTCATGACTTCCTCTCGGCTATCACTCACCCCTGTCCTCAGAGTGATAAACTAAGTCACATACAGATAAAG
CACTGAAAACACCACAGTGACCCTCCCACCCCCCACCAATATGTAATTCTATTAATAGAAACAGCTGTGTAAAGAAGTCTAAAATTTTCA
CTATTTCCAATGATAAACTCTTCAGTGCTCTTCTTGAAATGTCACATTATTTCCACAACAAGTTATAACCTATTTTTAGTATTTCTTGTT
TGCTAGTGACCTATGCACAACTTCAATAGCTTAGTTAGCTATTCCAACAACAATTTCTTCATGTATCGTTCTGTCTTCTCAACAGCTGTC
TTCATGGCAGCATAAGTGGTCATGATCAAAATTCTAAATCTTTGCATCTGTGAGAGTAGCTACTATGACACTAAAAGCTTTTTTTCTAGA
ACAGGAGACACTTCAGGTGAAAGCATTCATTCTCCTACTAACTATGGCCTTGGAGCCAGGTTTTATCTCTCACTGTAGGAAATTGGCCGC
CCCAGGTGTGAGCTATGAAGACTCCTTTTTGCCCCAGTGGCTTTGGGGTTGAAATGCTGTCGAAAAGCTTTTATGGCTCTGTAGACCCAT
CTTTTTGACCAAGCCTTGATCACACATGGACATCCAAGGGTAATCATGGACCCCCAATTGTGGGTGAAAGGATGGATCATTTATCTACCT

>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(transcript)=2849nt_BP=1782nt
GCGCTCAGGCGCCTGCGCTTTAGCTGCTAACTCGCTCTAGTAGCTGTGGTCGGGGCTCGGGACCGGCTGCCATCTTAGTCTAGGGACTGA
GGAGTCGCCGCCGCCCCGAGTCCCGGTACCATGCATTTCACGGTGGCCTTGTGGAGACAACGCCTTAACCCAAGGAAGTGACTCAAACTG
TGAGAACTTCAGGTTTTCCAACCTATTGGTGGTATGTCTGACAGTGGATCACAACTTGGTTCAATGGGTAGCCTCACCATGAAATCACAG
CTTCAGATCACTGTCATCTCAGCAAAACTTAAGGAAAATAAGAAGAATTGGTTTGGACCAAGTCCTTACGTAGAGGTCACAGTAGATGGA
CAGTCAAAGAAGACAGAAAAATGCAACAACACAAACAGTCCCAAGTGGAAGCAACCCCTTACAGTTATCGTTACCCCTGTGAGTAAATTA
CATTTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAACATTAAAGTCAAAC
AATATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTTGTCAATTTGTCTT
GATGGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAGTGCTTCTCAGAATGATGATGGCTCCAGATCC
AAGGATGAAACAAGAGTGAGCACAAATGGATCAGATGACCCTGAAGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCT
CCATCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAGACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTC
AATGGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTACAGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGA
GCAACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTCAGGCCCTAGGCCATTAAATCCTGTAACTCAAGCTCCCTTGCCACCT
GGTTGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGTAGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTA
CCTCCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTATTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACA
CTGGAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAGTCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTAT
GGGAATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGATCCTCTTGGTCCATTGCCACCTGGATGGGAGAAGAGAACAGACAGC
AATGGCAGAGTATATTTCGTCAACCACAACACACGAATTACACAATGGGAAGACCCCAGAAGTCAAGGTCAATTAAATGAAAAGCCCTTA
CCTGAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATATTTTGTGGACCACAATAGAAGAACTACCACCTATATAGATCCCCGC
ACAGGAAAATCTGCCCTAGACAATGGACCTCAGATAGCCTATGTTCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAG
CAACTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAAAACATTGTTTGAGGATTCCTTTCAACAGCCTATAGTGGTGAAAAAA
AATGCTGGAACAGATCAGGGCACTGCAGGAAACAATGCAAAGATGGAGAAGCAGTGAAAGATACATGCAAAAATCTTCGAGCTTGCTGCA
TTCCATCCAATGAAGACCACAGGCGAGTTCCTGCGACATCTCCCACACCCTTGAGTGACTCAACACCAGGAATTATTGATGATATTTTAA
CAGTAAGGTTCACGACAGACTACTTTGAAGTAAGCAGCAAGAAAGATATGGTTGAAGAGTCTGAGGCGGGAAGGGGAACTGAGACCTCTC
TTCCAAATGTTCACCATAGCTCATGACTTCCTCTCGGCTATCACTCACCCCTGTCCTCAGAGTGATAAACTAAGTCACATACAGATAAAG
CACTGAAAACACCACAGTGACCCTCCCACCCCCCACCAATATGTAATTCTATTAATAGAAACAGCTGTGTAAAGAAGTCTAAAATTTTCA
CTATTTCCAATGATAAACTCTTCAGTGCTCTTCTTGAAATGTCACATTATTTCCACAACAAGTTATAACCTATTTTTAGTATTTCTTGTT
TGCTAGTGACCTATGCACAACTTCAATAGCTTAGTTAGCTATTCCAACAACAATTTCTTCATGTATCGTTCTGTCTTCTCAACAGCTGTC
TTCATGGCAGCATAAGTGGTCATGATCAAAATTCTAAATCTTTGCATCTGTGAGAGTAGCTACTATGACACTAAAAGCTTTTTTTCTAGA
ACAGGAGACACTTCAGGTGAAAGCATTCATTCTCCTACTAACTATGGCCTTGGAGCCAGGTTTTATCTCTCACTGTAGGAAATTGGCCGC
CCCAGGTGTGAGCTATGAAGACTCCTTTTTGCCCCAGTGGCTTTGGGGTTGAAATGCTGTCGAAAAGCTTTTATGGCTCTGTAGACCCAT
CTTTTTGACCAAGCCTTGATCACACATGGACATCCAAGGGTAATCATGGACCCCCAATTGTGGGTGAAAGGATGGATCATTTATCTACCT

>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(transcript)=2666nt_BP=1599nt
AGCTGTGGTCGGGGCTCGGGACCGGCTGCCATCTTAGTCTAGGGACTGAGGAGTCGCCGCCGCCCCGAGTCCCGGTACCATGCATTTCAC
GGTGGCCTTGTGGAGACAACGCCTTAACCCAAGGAAGTGACTCAAACTGTGAGAACTTCAGGTTTTCCAACCTATTGGTGGTATGTCTGA
CAGTGGATCACAACTTGGTTCAATGGGTAGCCTCACCATGAAATCACAGCTTCAGATCACTGTATCGTTACCCCTGTGAGTAAATTACAT
TTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAACATTAAAGTCAAACAAT
ATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTTGTCAATTTGTCTTGAT
GGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAGTGCTTCTCAGAATGATGATGGCTCCAGATCCAAG
GATGAAACAAGAGTGAGCACAAATGGATCAGATGACCCTGAAGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCTCCA
TCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAGACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTCAAT
GGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTACAGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGAGCA
ACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTCAGGCCCTAGGCCATTAAATCCTGTAACTCAAGCTCCCTTGCCACCTGGT
TGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGTAGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTACCT
CCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTATTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACACTG
GAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAGTCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGG
AATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGATCCTCTTGGTCCATTGCCACCTGGATGGGAGAAGAGAACAGACAGCAAT
GGCAGAGTATATTTCGTCAACCACAACACACGAATTACACAATGGGAAGACCCCAGAAGTCAAGGTCAATTAAATGAAAAGCCCTTACCT
GAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATATTTTGTGGACCACAATAGAAGAACTACCACCTATATAGATCCCCGCACA
GGAAAATCTGCCCTAGACAATGGACCTCAGATAGCCTATGTTCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAGCAA
CTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAAAACATTGTTTGAGGATTCCTTTCAACAGCCTATAGTGGTGAAAAAAAAT
GCTGGAACAGATCAGGGCACTGCAGGAAACAATGCAAAGATGGAGAAGCAGTGAAAGATACATGCAAAAATCTTCGAGCTTGCTGCATTC
CATCCAATGAAGACCACAGGCGAGTTCCTGCGACATCTCCCACACCCTTGAGTGACTCAACACCAGGAATTATTGATGATATTTTAACAG
TAAGGTTCACGACAGACTACTTTGAAGTAAGCAGCAAGAAAGATATGGTTGAAGAGTCTGAGGCGGGAAGGGGAACTGAGACCTCTCTTC
CAAATGTTCACCATAGCTCATGACTTCCTCTCGGCTATCACTCACCCCTGTCCTCAGAGTGATAAACTAAGTCACATACAGATAAAGCAC
TGAAAACACCACAGTGACCCTCCCACCCCCCACCAATATGTAATTCTATTAATAGAAACAGCTGTGTAAAGAAGTCTAAAATTTTCACTA
TTTCCAATGATAAACTCTTCAGTGCTCTTCTTGAAATGTCACATTATTTCCACAACAAGTTATAACCTATTTTTAGTATTTCTTGTTTGC
TAGTGACCTATGCACAACTTCAATAGCTTAGTTAGCTATTCCAACAACAATTTCTTCATGTATCGTTCTGTCTTCTCAACAGCTGTCTTC
ATGGCAGCATAAGTGGTCATGATCAAAATTCTAAATCTTTGCATCTGTGAGAGTAGCTACTATGACACTAAAAGCTTTTTTTCTAGAACA
GGAGACACTTCAGGTGAAAGCATTCATTCTCCTACTAACTATGGCCTTGGAGCCAGGTTTTATCTCTCACTGTAGGAAATTGGCCGCCCC
AGGTGTGAGCTATGAAGACTCCTTTTTGCCCCAGTGGCTTTGGGGTTGAAATGCTGTCGAAAAGCTTTTATGGCTCTGTAGACCCATCTT
TTTGACCAAGCCTTGATCACACATGGACATCCAAGGGTAATCATGGACCCCCAATTGTGGGTGAAAGGATGGATCATTTATCTACCTGAT

>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(transcript)=2666nt_BP=1599nt
AGCTGTGGTCGGGGCTCGGGACCGGCTGCCATCTTAGTCTAGGGACTGAGGAGTCGCCGCCGCCCCGAGTCCCGGTACCATGCATTTCAC
GGTGGCCTTGTGGAGACAACGCCTTAACCCAAGGAAGTGACTCAAACTGTGAGAACTTCAGGTTTTCCAACCTATTGGTGGTATGTCTGA
CAGTGGATCACAACTTGGTTCAATGGGTAGCCTCACCATGAAATCACAGCTTCAGATCACTGTATCGTTACCCCTGTGAGTAAATTACAT
TTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAACATTAAAGTCAAACAAT
ATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTTGTCAATTTGTCTTGAT
GGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAGTGCTTCTCAGAATGATGATGGCTCCAGATCCAAG
GATGAAACAAGAGTGAGCACAAATGGATCAGATGACCCTGAAGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCTCCA
TCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAGACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTCAAT
GGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTACAGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGAGCA
ACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTCAGGCCCTAGGCCATTAAATCCTGTAACTCAAGCTCCCTTGCCACCTGGT
TGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGTAGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTACCT
CCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTATTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACACTG
GAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAGTCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGG
AATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGATCCTCTTGGTCCATTGCCACCTGGATGGGAGAAGAGAACAGACAGCAAT
GGCAGAGTATATTTCGTCAACCACAACACACGAATTACACAATGGGAAGACCCCAGAAGTCAAGGTCAATTAAATGAAAAGCCCTTACCT
GAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATATTTTGTGGACCACAATAGAAGAACTACCACCTATATAGATCCCCGCACA
GGAAAATCTGCCCTAGACAATGGACCTCAGATAGCCTATGTTCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAGCAA
CTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAAAACATTGTTTGAGGATTCCTTTCAACAGCCTATAGTGGTGAAAAAAAAT
GCTGGAACAGATCAGGGCACTGCAGGAAACAATGCAAAGATGGAGAAGCAGTGAAAGATACATGCAAAAATCTTCGAGCTTGCTGCATTC
CATCCAATGAAGACCACAGGCGAGTTCCTGCGACATCTCCCACACCCTTGAGTGACTCAACACCAGGAATTATTGATGATATTTTAACAG
TAAGGTTCACGACAGACTACTTTGAAGTAAGCAGCAAGAAAGATATGGTTGAAGAGTCTGAGGCGGGAAGGGGAACTGAGACCTCTCTTC
CAAATGTTCACCATAGCTCATGACTTCCTCTCGGCTATCACTCACCCCTGTCCTCAGAGTGATAAACTAAGTCACATACAGATAAAGCAC
TGAAAACACCACAGTGACCCTCCCACCCCCCACCAATATGTAATTCTATTAATAGAAACAGCTGTGTAAAGAAGTCTAAAATTTTCACTA
TTTCCAATGATAAACTCTTCAGTGCTCTTCTTGAAATGTCACATTATTTCCACAACAAGTTATAACCTATTTTTAGTATTTCTTGTTTGC
TAGTGACCTATGCACAACTTCAATAGCTTAGTTAGCTATTCCAACAACAATTTCTTCATGTATCGTTCTGTCTTCTCAACAGCTGTCTTC
ATGGCAGCATAAGTGGTCATGATCAAAATTCTAAATCTTTGCATCTGTGAGAGTAGCTACTATGACACTAAAAGCTTTTTTTCTAGAACA
GGAGACACTTCAGGTGAAAGCATTCATTCTCCTACTAACTATGGCCTTGGAGCCAGGTTTTATCTCTCACTGTAGGAAATTGGCCGCCCC
AGGTGTGAGCTATGAAGACTCCTTTTTGCCCCAGTGGCTTTGGGGTTGAAATGCTGTCGAAAAGCTTTTATGGCTCTGTAGACCCATCTT
TTTGACCAAGCCTTGATCACACATGGACATCCAAGGGTAATCATGGACCCCCAATTGTGGGTGAAAGGATGGATCATTTATCTACCTGAT

>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 Gene PPI Analysis for ITCH-DEFB118


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


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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Related Drugs for ITCH-DEFB118


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ITCH-DEFB118


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITCHC3150649AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneITCHC4755273Syndromic multisystem autoimmune disease due to ITCH deficiency1GENOMICS_ENGLAND