FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ITCH-DEFB118 (FusionGDB2 ID:40349)

Fusion Gene Summary for ITCH-DEFB118

check button Fusion gene summary
Fusion gene informationFusion gene name: ITCH-DEFB118
Fusion gene ID: 40349
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

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..
Ensembl transtripts involved in fusion geneENST00000483727, ENST00000262650, 
ENST00000374864, ENST00000535650, 
ENST00000253381, 
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.
* 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

+


Top

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

Top

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%

Top

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
..
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}.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


Top

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

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

Top

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


Top

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

Top

Related Diseases for ITCH-DEFB118


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource