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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:KHDRBS3-ANXA13 (FusionGDB2 ID:41971)

Fusion Gene Summary for KHDRBS3-ANXA13

check button Fusion gene summary
Fusion gene informationFusion gene name: KHDRBS3-ANXA13
Fusion gene ID: 41971
HgeneTgene
Gene symbol

KHDRBS3

ANXA13

Gene ID

10656

312

Gene nameKH RNA binding domain containing, signal transduction associated 3annexin A13
SynonymsEtle|SALP|SLM-2|SLM2|T-STAR|TSTAR|etoileANX13|ISA
Cytomap

8q24.23

8q24.13

Type of geneprotein-codingprotein-coding
DescriptionKH domain-containing, RNA-binding, signal transduction-associated protein 3KH domain containing, RNA binding, signal transduction associated 3RNA-binding protein T-StarSam68-like phosphotyrosine protein, T-STARsam68-like mammalian protein 2annexin A13annexin XIIIannexin, intestine-specificannexin-13intestine-specific annexin
Modification date2020031320200313
UniProtAcc

O75525

P27216

Ensembl transtripts involved in fusion geneENST00000355849, ENST00000520981, 
ENST00000522578, 
ENST00000519045, 
ENST00000262219, ENST00000419625, 
Fusion gene scores* DoF score7 X 5 X 4=1406 X 4 X 6=144
# samples 711
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/144*10)=-0.388565287917653
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KHDRBS3 [Title/Abstract] AND ANXA13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKHDRBS3(136470197)-ANXA13(124714976), # samples:2
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

check buttonFusion gene breakpoints across KHDRBS3 (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 ANXA13 (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
ChimerDB4SKCMTCGA-EE-A2MR-06AKHDRBS3chr8

136470197

-ANXA13chr8

124714976

-
ChimerDB4SKCMTCGA-EE-A2MR-06AKHDRBS3chr8

136470197

+ANXA13chr8

124714976

-


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Fusion Gene ORF analysis for KHDRBS3-ANXA13

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
5CDS-intronENST00000355849ENST00000519045KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
In-frameENST00000355849ENST00000262219KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
In-frameENST00000355849ENST00000419625KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
intron-3CDSENST00000520981ENST00000262219KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
intron-3CDSENST00000520981ENST00000419625KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
intron-3CDSENST00000522578ENST00000262219KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
intron-3CDSENST00000522578ENST00000419625KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
intron-intronENST00000520981ENST00000519045KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-
intron-intronENST00000522578ENST00000519045KHDRBS3chr8

136470197

+ANXA13chr8

124714976

-

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)
ENST00000355849KHDRBS3chr8136470197+ENST00000262219ANXA13chr8124714976-1804498501357435
ENST00000355849KHDRBS3chr8136470197+ENST00000419625ANXA13chr8124714976-1803498501357435

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
ENST00000355849ENST00000262219KHDRBS3chr8136470197+ANXA13chr8124714976-0.0014789620.99852103
ENST00000355849ENST00000419625KHDRBS3chr8136470197+ANXA13chr8124714976-0.0014718880.9985281

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Fusion Genomic Features for KHDRBS3-ANXA13


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)

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.

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Fusion Protein Features for KHDRBS3-ANXA13


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/chr8:136470197/chr8:124714976)
- 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
KHDRBS3

O75525

ANXA13

P27216

FUNCTION: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068). Involved in splice site selection of vascular endothelial growth factor (PubMed:15901763). In vitro regulates CD44 alternative splicing by direct binding to purine-rich exonic enhancer (By similarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners such as neuroligins and LRRTM family members (PubMed:26758068). Targeted, cell-type specific splicing regulation of NRXN1 at AS4 is involved in neuronal glutamatergic synapse function and plasticity (By similarity). May regulate expression of KHDRBS2/SLIM-1 in defined brain neuron populations by modifying its alternative splicing (By similarity). Can bind FABP9 mRNA (By similarity). May play a role as a negative regulator of cell growth. Inhibits cell proliferation. {ECO:0000250|UniProtKB:Q9JLP1, ECO:0000250|UniProtKB:Q9R226, ECO:0000269|PubMed:10564820, ECO:0000269|PubMed:15901763, ECO:0000269|PubMed:19561594, ECO:0000269|PubMed:26758068}.; FUNCTION: (Microbial infection) Involved in post-transcriptional regulation of HIV-1 gene expression. {ECO:0000269|PubMed:11741900}.FUNCTION: [Isoform A]: Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner (PubMed:27676605, PubMed:30610115). Half-maximal membrane binding requires about 60 uM calcium. Does not bind to membranes that lack phospholipids with an acidic headgroup (PubMed:27676605). {ECO:0000269|PubMed:27676605, ECO:0000269|PubMed:30610115}.; FUNCTION: [Isoform B]: Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner, but requires higher calcium levels for membrane binding than isoform A. Half-maximal membrane binding requires about 320 uM calcium. {ECO:0000269|PubMed:27676605}.

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
TgeneANXA13chr8:136470197chr8:124714976ENST00000262219212169_24171358.0RepeatAnnexin 3
TgeneANXA13chr8:136470197chr8:124714976ENST00000262219212245_31671358.0RepeatAnnexin 4
TgeneANXA13chr8:136470197chr8:124714976ENST0000026221921286_15771358.0RepeatAnnexin 2
TgeneANXA13chr8:136470197chr8:124714976ENST00000419625111169_24130317.0RepeatAnnexin 3
TgeneANXA13chr8:136470197chr8:124714976ENST00000419625111245_31630317.0RepeatAnnexin 4
TgeneANXA13chr8:136470197chr8:124714976ENST0000041962511186_15730317.0RepeatAnnexin 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKHDRBS3chr8:136470197chr8:124714976ENST00000355849+19250_26129347.0Compositional biasNote=Pro-rich
HgeneKHDRBS3chr8:136470197chr8:124714976ENST00000355849+19266_31629347.0Compositional biasNote=Tyr-rich
HgeneKHDRBS3chr8:136470197chr8:124714976ENST00000355849+1961_12729347.0DomainNote=KH
HgeneKHDRBS3chr8:136470197chr8:124714976ENST00000355849+191_16029347.0RegionInvolved in homodimerization
TgeneANXA13chr8:136470197chr8:124714976ENST0000026221921214_8571358.0RepeatAnnexin 1
TgeneANXA13chr8:136470197chr8:124714976ENST0000041962511114_8530317.0RepeatAnnexin 1


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Fusion Gene Sequence for KHDRBS3-ANXA13


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.
>41971_41971_1_KHDRBS3-ANXA13_KHDRBS3_chr8_136470197_ENST00000355849_ANXA13_chr8_124714976_ENST00000262219_length(transcript)=1804nt_BP=498nt
GAGTGCGCGGGGCGGCGCGCGGCGTGCAGGTCGCAGCTGTGGCTCGGGTGCTGGCAGGTGCTGGCGGGACTGGCGGGGATCGCCGTGGAC
TGCCTCAGGGGCGCCGCAGCCCGCTCGGCCCGAGGGCCCGCCTAACCGCGCCGCCCGCGCCCGCTCCTCCTCGGCCCGCGCCCGGAGCGC
GGGGGCCGCCGGCGCTGGGTACTCGGCGGCCACCGGGGATCGGGGCTGAGCGGTCGGTTCCCGCCCCCGTGCCGCCGCCGCCGCCTTCCG
GCCGACCGCCCGGCTTGGCCGCTGCTGCCGCGTCTGGCCCCCGGGTCCCCGCCGCTGGGGGCGCGGGCGGGGTCGGGGGTTGCCGGGCGC
CGCCCCCCGTGCGCCTGGAGTCCACATCCCGGGCCCGGCGGCCGGCGAGCATGGAGGAGAAGTACCTGCCCGAGCTGATGGCGGAGAAGG
ACTCCCTGGACCCCTCCTTCACGCACGCCCTGCGCCTGGTGAACCAAGGGACCAATGAAGCAGCCATCATTGAAATCTTATCGGGCAGGA
CATCAGATGAGAGGCAACAAATCAAGCAAAAGTACAAGGCAACGTACGGCAAGGAGCTGGAGGAAGTACTCAAGAGTGAGCTGAGTGGAA
ACTTCGAGAAGACAGCGTTGGCCCTTCTGGACCGTCCCAGCGAGTACGCCGCCCGGCAGCTGCAGAAGGCTATGAAGGGTCTGGGCACAG
ATGAGTCCGTCCTCATTGAGGTCCTGTGCACGAGGACCAATAAGGAAATCATCGCCATTAAAGAGGCCTACCAAAGGCTATTTGATAGGA
GCCTCGAATCAGATGTCAAAGGTGATACAAGTGGAAACCTAAAAAAAATCCTGGTGTCTCTGCTGCAGGCTAATCGCAATGAAGGAGATG
ACGTGGACAAAGATCTAGCTGGTCAGGATGCCAAAGATCTGTATGATGCAGGGGAAGGCCGCTGGGGCACTGATGAGCTTGCGTTCAATG
AAGTCCTGGCCAAGAGGAGCTACAAGCAGTTACGAGCCACCTTTCAAGCCTATCAAATTCTCATTGGCAAAGACATAGAAGAAGCCATTG
AAGAAGAAACATCAGGCGACTTGCAGAAGGCCTATTTAACTCTCGTGAGATGTGCCCAGGATTGTGAGGACTATTTTGCTGAACGTCTGT
ACAAGTCGATGAAGGGTGCGGGGACCGATGAGGAGACGTTGATTCGCATAGTCGTGACCAGGGCCGAGGTGGACCTTCAGGGGATCAAAG
CAAAGTTCCAAGAGAAGTATCAGAAGTCTCTCTCTGACATGGTTCGCTCAGATACCTCCGGGGACTTCCGGAAACTGCTAGTAGCCCTCT
TGCACTGAGCCAAGCCAGGGCAATAGGAACACAGGGTGGAACCGCCTTTGTCAAGAGCACATTCCAAATCAAACTTGCAAATGAGACTCC
CGCACGAAAACCCTTAAGAGTCCCGGATTACTTTCTTGGCAGCTTAAGTGGCGCAGCCAGGCCAAGCTGTGTAAGTTAAGGGCAGTAACG
TTAAGATGCGTGGGCAGGGCACCTTGAACTCTGGCTTAGCAAGCATCTAGGCTGCCTCTTCACTTTCTTTTAGCATGGTAACTGGATGTT
TTCTAAACACTAATGAAATCAGCAGTTGATGAAAAAACTATGCATTTGTAATGGCACATTTAGAAGGATATGCATCACACAAGTAAGGTA
CAGGAAAGACAAAATTAAACAATTTATTAATTTTCCTTCTGTGTGTTCAATTTGAAAGCCTCATTGTTAATTAAAGTTGTGGATTATGCC

>41971_41971_1_KHDRBS3-ANXA13_KHDRBS3_chr8_136470197_ENST00000355849_ANXA13_chr8_124714976_ENST00000262219_length(amino acids)=435AA_BP=149
MAGAGGTGGDRRGLPQGRRSPLGPRARLTAPPAPAPPRPAPGARGPPALGTRRPPGIGAERSVPAPVPPPPPSGRPPGLAAAAASGPRVP
AAGGAGGVGGCRAPPPVRLESTSRARRPASMEEKYLPELMAEKDSLDPSFTHALRLVNQGTNEAAIIEILSGRTSDERQQIKQKYKATYG
KELEEVLKSELSGNFEKTALALLDRPSEYAARQLQKAMKGLGTDESVLIEVLCTRTNKEIIAIKEAYQRLFDRSLESDVKGDTSGNLKKI
LVSLLQANRNEGDDVDKDLAGQDAKDLYDAGEGRWGTDELAFNEVLAKRSYKQLRATFQAYQILIGKDIEEAIEEETSGDLQKAYLTLVR

--------------------------------------------------------------
>41971_41971_2_KHDRBS3-ANXA13_KHDRBS3_chr8_136470197_ENST00000355849_ANXA13_chr8_124714976_ENST00000419625_length(transcript)=1803nt_BP=498nt
GAGTGCGCGGGGCGGCGCGCGGCGTGCAGGTCGCAGCTGTGGCTCGGGTGCTGGCAGGTGCTGGCGGGACTGGCGGGGATCGCCGTGGAC
TGCCTCAGGGGCGCCGCAGCCCGCTCGGCCCGAGGGCCCGCCTAACCGCGCCGCCCGCGCCCGCTCCTCCTCGGCCCGCGCCCGGAGCGC
GGGGGCCGCCGGCGCTGGGTACTCGGCGGCCACCGGGGATCGGGGCTGAGCGGTCGGTTCCCGCCCCCGTGCCGCCGCCGCCGCCTTCCG
GCCGACCGCCCGGCTTGGCCGCTGCTGCCGCGTCTGGCCCCCGGGTCCCCGCCGCTGGGGGCGCGGGCGGGGTCGGGGGTTGCCGGGCGC
CGCCCCCCGTGCGCCTGGAGTCCACATCCCGGGCCCGGCGGCCGGCGAGCATGGAGGAGAAGTACCTGCCCGAGCTGATGGCGGAGAAGG
ACTCCCTGGACCCCTCCTTCACGCACGCCCTGCGCCTGGTGAACCAAGGGACCAATGAAGCAGCCATCATTGAAATCTTATCGGGCAGGA
CATCAGATGAGAGGCAACAAATCAAGCAAAAGTACAAGGCAACGTACGGCAAGGAGCTGGAGGAAGTACTCAAGAGTGAGCTGAGTGGAA
ACTTCGAGAAGACAGCGTTGGCCCTTCTGGACCGTCCCAGCGAGTACGCCGCCCGGCAGCTGCAGAAGGCTATGAAGGGTCTGGGCACAG
ATGAGTCCGTCCTCATTGAGGTCCTGTGCACGAGGACCAATAAGGAAATCATCGCCATTAAAGAGGCCTACCAAAGGCTATTTGATAGGA
GCCTCGAATCAGATGTCAAAGGTGATACAAGTGGAAACCTAAAAAAAATCCTGGTGTCTCTGCTGCAGGCTAATCGCAATGAAGGAGATG
ACGTGGACAAAGATCTAGCTGGTCAGGATGCCAAAGATCTGTATGATGCAGGGGAAGGCCGCTGGGGCACTGATGAGCTTGCGTTCAATG
AAGTCCTGGCCAAGAGGAGCTACAAGCAGTTACGAGCCACCTTTCAAGCCTATCAAATTCTCATTGGCAAAGACATAGAAGAAGCCATTG
AAGAAGAAACATCAGGCGACTTGCAGAAGGCCTATTTAACTCTCGTGAGATGTGCCCAGGATTGTGAGGACTATTTTGCTGAACGTCTGT
ACAAGTCGATGAAGGGTGCGGGGACCGATGAGGAGACGTTGATTCGCATAGTCGTGACCAGGGCCGAGGTGGACCTTCAGGGGATCAAAG
CAAAGTTCCAAGAGAAGTATCAGAAGTCTCTCTCTGACATGGTTCGCTCAGATACCTCCGGGGACTTCCGGAAACTGCTAGTAGCCCTCT
TGCACTGAGCCAAGCCAGGGCAATAGGAACACAGGGTGGAACCGCCTTTGTCAAGAGCACATTCCAAATCAAACTTGCAAATGAGACTCC
CGCACGAAAACCCTTAAGAGTCCCGGATTACTTTCTTGGCAGCTTAAGTGGCGCAGCCAGGCCAAGCTGTGTAAGTTAAGGGCAGTAACG
TTAAGATGCGTGGGCAGGGCACCTTGAACTCTGGCTTAGCAAGCATCTAGGCTGCCTCTTCACTTTCTTTTAGCATGGTAACTGGATGTT
TTCTAAACACTAATGAAATCAGCAGTTGATGAAAAAACTATGCATTTGTAATGGCACATTTAGAAGGATATGCATCACACAAGTAAGGTA
CAGGAAAGACAAAATTAAACAATTTATTAATTTTCCTTCTGTGTGTTCAATTTGAAAGCCTCATTGTTAATTAAAGTTGTGGATTATGCC

>41971_41971_2_KHDRBS3-ANXA13_KHDRBS3_chr8_136470197_ENST00000355849_ANXA13_chr8_124714976_ENST00000419625_length(amino acids)=435AA_BP=149
MAGAGGTGGDRRGLPQGRRSPLGPRARLTAPPAPAPPRPAPGARGPPALGTRRPPGIGAERSVPAPVPPPPPSGRPPGLAAAAASGPRVP
AAGGAGGVGGCRAPPPVRLESTSRARRPASMEEKYLPELMAEKDSLDPSFTHALRLVNQGTNEAAIIEILSGRTSDERQQIKQKYKATYG
KELEEVLKSELSGNFEKTALALLDRPSEYAARQLQKAMKGLGTDESVLIEVLCTRTNKEIIAIKEAYQRLFDRSLESDVKGDTSGNLKKI
LVSLLQANRNEGDDVDKDLAGQDAKDLYDAGEGRWGTDELAFNEVLAKRSYKQLRATFQAYQILIGKDIEEAIEEETSGDLQKAYLTLVR

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Fusion Gene PPI Analysis for KHDRBS3-ANXA13


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 KHDRBS3-ANXA13


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 KHDRBS3-ANXA13


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