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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:APPL1-NUP214

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: APPL1-NUP214
FusionPDB ID: 5680
FusionGDB2.0 ID: 5680
HgeneTgene
Gene symbol

APPL1

NUP214

Gene ID

26060

8021

Gene nameadaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1nucleoporin 214
SynonymsAPPL|DIP13alpha|MODY14CAIN|CAN|IIAE9
Cytomap

3p14.3

9q34.13

Type of geneprotein-codingprotein-coding
DescriptionDCC-interacting protein 13-alphaAKT2 interactoradapter protein containing PH domain, PTB domain and leucine zipper motif 1adaptor protein containing pH domain, PTB domain and leucine zipper motif 1adaptor protein, phosphotyrosine interaction, PH domainuclear pore complex protein Nup214CAN protein, putative oncogenenucleoporin 214kDa
Modification date2020031320200322
UniProtAcc

Q9UKG1

P35658

Ensembl transtripts involved in fusion geneENST idsENST00000288266, ENST00000465486, 
ENST00000359428, ENST00000411637, 
ENST00000451030, ENST00000483497, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 6=18019 X 26 X 11=5434
# samples 629
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(29/5434*10)=-4.22788976020704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: APPL1 [Title/Abstract] AND NUP214 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)APPL1(57272144)-NUP214(134090599), # samples:1
Anticipated loss of major functional domain due to fusion event.APPL1-NUP214 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.
APPL1-NUP214 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
HgeneAPPL1

GO:0006606

protein import into nucleus

26583432

HgeneAPPL1

GO:2000045

regulation of G1/S transition of mitotic cell cycle

15016378


check buttonFusion gene breakpoints across APPL1 (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 NUP214 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-HU-A4GY-01AAPPL1chr3

57272144

+NUP214chr9

134090599

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000288266APPL1chr357272144+ENST00000359428NUP214chr9134090599+229643291112367
ENST00000288266APPL1chr357272144+ENST00000411637NUP214chr9134090599+228943291112367
ENST00000288266APPL1chr357272144+ENST00000451030NUP214chr9134090599+132743291112367
ENST00000288266APPL1chr357272144+ENST00000483497NUP214chr9134090599+132943291112367

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
ENST00000288266ENST00000359428APPL1chr357272144+NUP214chr9134090599+0.0080031010.99199694
ENST00000288266ENST00000411637APPL1chr357272144+NUP214chr9134090599+0.0080825360.99191743
ENST00000288266ENST00000451030APPL1chr357272144+NUP214chr9134090599+0.0143081920.98569185
ENST00000288266ENST00000483497APPL1chr357272144+NUP214chr9134090599+0.0141487280.9858512

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>5680_5680_1_APPL1-NUP214_APPL1_chr3_57272144_ENST00000288266_NUP214_chr9_134090599_ENST00000359428_length(amino acids)=367AA_BP=141
MEKAVRAGTAAALAGEGGPGSAAAGGPARGAVGGSCVSCHRPPSATMPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAM
HRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDEQSSSSSGSVFGSGNTGRGGGFFSGLGGKPSQDAANKNPF
SSASGGFGSTATSNTSNLFGNSGAKTFGGFASSSFGEQKPTGTFSSGGGSVASQGFGFSSPNKTGGFGAAPVFGSPPTFGGSPGFGGVPA
FGSAPAFTSPLGSTGGKVFGEGTAAASAGGFGFGSSSNTTSFGTLASQNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQ

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

>5680_5680_2_APPL1-NUP214_APPL1_chr3_57272144_ENST00000288266_NUP214_chr9_134090599_ENST00000411637_length(amino acids)=367AA_BP=141
MEKAVRAGTAAALAGEGGPGSAAAGGPARGAVGGSCVSCHRPPSATMPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAM
HRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDEQSSSSSGSVFGSGNTGRGGGFFSGLGGKPSQDAANKNPF
SSASGGFGSTATSNTSNLFGNSGAKTFGGFASSSFGEQKPTGTFSSGGGSVASQGFGFSSPNKTGGFGAAPVFGSPPTFGGSPGFGGVPA
FGSAPAFTSPLGSTGGKVFGEGTAAASAGGFGFGSSSNTTSFGTLASQNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQ

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

>5680_5680_3_APPL1-NUP214_APPL1_chr3_57272144_ENST00000288266_NUP214_chr9_134090599_ENST00000451030_length(amino acids)=367AA_BP=141
MEKAVRAGTAAALAGEGGPGSAAAGGPARGAVGGSCVSCHRPPSATMPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAM
HRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDEQSSSSSGSVFGSGNTGRGGGFFSGLGGKPSQDAANKNPF
SSASGGFGSTATSNTSNLFGNSGAKTFGGFASSSFGEQKPTGTFSSGGGSVASQGFGFSSPNKTGGFGAAPVFGSPPTFGGSPGFGGVPA
FGSAPAFTSPLGSTGGKVFGEGTAAASAGGFGFGSSSNTTSFGTLASQNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQ

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

>5680_5680_4_APPL1-NUP214_APPL1_chr3_57272144_ENST00000288266_NUP214_chr9_134090599_ENST00000483497_length(amino acids)=367AA_BP=141
MEKAVRAGTAAALAGEGGPGSAAAGGPARGAVGGSCVSCHRPPSATMPGIDKLPIEETLEDSPQTRSLLGVFEEDATAISNYMNQLYQAM
HRIYDAQNELSAATHLTSKLLKEYEKQRFPLGGDDEVMSSTLQQFSKVIDEQSSSSSGSVFGSGNTGRGGGFFSGLGGKPSQDAANKNPF
SSASGGFGSTATSNTSNLFGNSGAKTFGGFASSSFGEQKPTGTFSSGGGSVASQGFGFSSPNKTGGFGAAPVFGSPPTFGGSPGFGGVPA
FGSAPAFTSPLGSTGGKVFGEGTAAASAGGFGFGSSSNTTSFGTLASQNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQ

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

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Fusion Protein Functional Features


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/chr3:57272144/chr9:134090599)
- 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
APPL1

Q9UKG1

NUP214

P35658

FUNCTION: Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:26073777, PubMed:19661063, PubMed:10490823). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity). Regulates TLR4 signaling in activated macrophages (By similarity). Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:26073777, PubMed:19661063, PubMed:24879834). Required for fibroblast migration through HGF cell signaling (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). {ECO:0000250|UniProtKB:Q8K3H0, ECO:0000269|PubMed:10490823, ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:19433865, ECO:0000269|PubMed:19661063, ECO:0000269|PubMed:24879834, ECO:0000269|PubMed:26073777, ECO:0000269|PubMed:26583432}.FUNCTION: Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440). {ECO:0000269|PubMed:31178128, ECO:0000269|PubMed:9049309, ECO:0000303|PubMed:8108440}.; FUNCTION: (Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro). {ECO:0000269|PubMed:25410864}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361862_18631864.02091.0Repeat24
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361874_18751864.02091.0Repeat25
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361910_19111864.02091.0Repeat26
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361922_19231864.02091.0Repeat27
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361930_19311864.02091.0Repeat28
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361938_19391864.02091.0Repeat29
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361959_19601864.02091.0Repeat30
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361970_19711864.02091.0Repeat31
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361976_19771864.02091.0Repeat32
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361982_19831864.02091.0Repeat33
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361988_19891864.02091.0Repeat34
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361994_19951864.02091.0Repeat35
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362012_20131864.02091.0Repeat36
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362024_20251864.02091.0Repeat37
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362026_20271864.02091.0Repeat38
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362035_20361864.02091.0Repeat39
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362046_20471864.02091.0Repeat40
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362056_20571864.02091.0Repeat41
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362066_20671864.02091.0Repeat42
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362075_20761864.02091.0Repeat43
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829362085_20861864.02091.0Repeat44
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361851_18521854.02081.0Repeat23
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361862_18631854.02081.0Repeat24
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361874_18751854.02081.0Repeat25
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361910_19111854.02081.0Repeat26
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361922_19231854.02081.0Repeat27
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361930_19311854.02081.0Repeat28
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361938_19391854.02081.0Repeat29
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361959_19601854.02081.0Repeat30
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361970_19711854.02081.0Repeat31
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361976_19771854.02081.0Repeat32
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361982_19831854.02081.0Repeat33
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361988_19891854.02081.0Repeat34
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361994_19951854.02081.0Repeat35
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362012_20131854.02081.0Repeat36
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362024_20251854.02081.0Repeat37
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362026_20271854.02081.0Repeat38
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362035_20361854.02081.0Repeat39
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362046_20471854.02081.0Repeat40
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362056_20571854.02081.0Repeat41
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362066_20671854.02081.0Repeat42
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362075_20761854.02081.0Repeat43
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729362085_20861854.02081.0Repeat44
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361862_18631865.02092.0Repeat24
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361874_18751865.02092.0Repeat25
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361910_19111865.02092.0Repeat26
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361922_19231865.02092.0Repeat27
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361930_19311865.02092.0Repeat28
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361938_19391865.02092.0Repeat29
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361959_19601865.02092.0Repeat30
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361970_19711865.02092.0Repeat31
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361976_19771865.02092.0Repeat32
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361982_19831865.02092.0Repeat33
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361988_19891865.02092.0Repeat34
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361994_19951865.02092.0Repeat35
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362012_20131865.02092.0Repeat36
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362024_20251865.02092.0Repeat37
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362026_20271865.02092.0Repeat38
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362035_20361865.02092.0Repeat39
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362046_20471865.02092.0Repeat40
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362056_20571865.02092.0Repeat41
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362066_20671865.02092.0Repeat42
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362075_20761865.02092.0Repeat43
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029362085_20861865.02092.0Repeat44

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+422215_25995.0710.0Coiled coilOntology_term=ECO:0000255
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+422621_67395.0710.0Coiled coilOntology_term=ECO:0000255
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+422277_37595.0710.0DomainPH
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+4223_26895.0710.0DomainBAR
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+422496_65695.0710.0DomainPID
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+422403_41495.0710.0MotifNote=F%26H
HgeneAPPL1chr3:57272144chr9:134090599ENST00000288266+4221_42895.0710.0RegionNote=Required for RAB5A binding
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936680_12091864.02091.0Coiled coilOntology_term=ECO:0000269
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936680_12091854.02081.0Coiled coilOntology_term=ECO:0000269
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936680_12091865.02092.0Coiled coilOntology_term=ECO:0000269
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361213_20901864.02091.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361213_20901854.02081.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361213_20901865.02092.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361409_20841864.02091.0RegionNote=18 X 4 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361427_20851864.02091.0RegionNote=11 X 3 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936236_14181864.02091.0Region44 X 2 AA repeats of F-G
TgeneNUP214chr3:57272144chr9:134090599ENST00000359428293641_4041864.02091.0RegionNote=Seven-bladed beta propeller
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936450_5861864.02091.0Region(Microbial infection) Binds human adenovirus 5 (HAdV-5) protein L3 (hexon)
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936481_20761864.02091.0RegionNote=11 X 5 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936740_7681864.02091.0RegionNote=Leucine-zipper 1
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936861_8821864.02091.0RegionNote=Leucine-zipper 2
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361409_20841854.02081.0RegionNote=18 X 4 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361427_20851854.02081.0RegionNote=11 X 3 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936236_14181854.02081.0Region44 X 2 AA repeats of F-G
TgeneNUP214chr3:57272144chr9:134090599ENST00000411637293641_4041854.02081.0RegionNote=Seven-bladed beta propeller
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936450_5861854.02081.0Region(Microbial infection) Binds human adenovirus 5 (HAdV-5) protein L3 (hexon)
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936481_20761854.02081.0RegionNote=11 X 5 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936740_7681854.02081.0RegionNote=Leucine-zipper 1
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936861_8821854.02081.0RegionNote=Leucine-zipper 2
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361409_20841865.02092.0RegionNote=18 X 4 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361427_20851865.02092.0RegionNote=11 X 3 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936236_14181865.02092.0Region44 X 2 AA repeats of F-G
TgeneNUP214chr3:57272144chr9:134090599ENST00000451030293641_4041865.02092.0RegionNote=Seven-bladed beta propeller
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936450_5861865.02092.0Region(Microbial infection) Binds human adenovirus 5 (HAdV-5) protein L3 (hexon)
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936481_20761865.02092.0RegionNote=11 X 5 AA approximate repeats
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936740_7681865.02092.0RegionNote=Leucine-zipper 1
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936861_8821865.02092.0RegionNote=Leucine-zipper 2
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361225_12261864.02091.0Repeat3
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361411_14121864.02091.0Repeat4
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361427_14281864.02091.0Repeat5
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361441_14421864.02091.0Repeat6
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361473_14741864.02091.0Repeat7
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936151_1931864.02091.0RepeatNote=Blade 3
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361635_16361864.02091.0Repeat8
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361674_16751864.02091.0Repeat9
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361686_16871864.02091.0Repeat10
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361713_17141864.02091.0Repeat11
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361721_17221864.02091.0Repeat12
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361726_17271864.02091.0Repeat13
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361732_17331864.02091.0Repeat14
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361756_17571864.02091.0Repeat15
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361772_17731864.02091.0Repeat16
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361786_17871864.02091.0Repeat17
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361798_17991864.02091.0Repeat18
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361806_18071864.02091.0Repeat19
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361812_18131864.02091.0Repeat20
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361819_18201864.02091.0Repeat21
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361842_18431864.02091.0Repeat22
TgeneNUP214chr3:57272144chr9:134090599ENST0000035942829361851_18521864.02091.0Repeat23
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936194_2391864.02091.0RepeatNote=Blade 4
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936240_3031864.02091.0RepeatNote=Blade 5
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936304_3591864.02091.0RepeatNote=Blade 6
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936360_4041864.02091.0RepeatNote=Blade 7
TgeneNUP214chr3:57272144chr9:134090599ENST00000359428293641_931864.02091.0RepeatNote=Blade 1
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936484_4851864.02091.0Repeat1
TgeneNUP214chr3:57272144chr9:134090599ENST000003594282936548_5491864.02091.0Repeat2
TgeneNUP214chr3:57272144chr9:134090599ENST00000359428293694_1501864.02091.0RepeatNote=Blade 2
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361225_12261854.02081.0Repeat3
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361411_14121854.02081.0Repeat4
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361427_14281854.02081.0Repeat5
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361441_14421854.02081.0Repeat6
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361473_14741854.02081.0Repeat7
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936151_1931854.02081.0RepeatNote=Blade 3
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361635_16361854.02081.0Repeat8
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361674_16751854.02081.0Repeat9
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361686_16871854.02081.0Repeat10
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361713_17141854.02081.0Repeat11
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361721_17221854.02081.0Repeat12
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361726_17271854.02081.0Repeat13
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361732_17331854.02081.0Repeat14
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361756_17571854.02081.0Repeat15
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361772_17731854.02081.0Repeat16
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361786_17871854.02081.0Repeat17
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361798_17991854.02081.0Repeat18
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361806_18071854.02081.0Repeat19
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361812_18131854.02081.0Repeat20
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361819_18201854.02081.0Repeat21
TgeneNUP214chr3:57272144chr9:134090599ENST0000041163729361842_18431854.02081.0Repeat22
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936194_2391854.02081.0RepeatNote=Blade 4
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936240_3031854.02081.0RepeatNote=Blade 5
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936304_3591854.02081.0RepeatNote=Blade 6
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936360_4041854.02081.0RepeatNote=Blade 7
TgeneNUP214chr3:57272144chr9:134090599ENST00000411637293641_931854.02081.0RepeatNote=Blade 1
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936484_4851854.02081.0Repeat1
TgeneNUP214chr3:57272144chr9:134090599ENST000004116372936548_5491854.02081.0Repeat2
TgeneNUP214chr3:57272144chr9:134090599ENST00000411637293694_1501854.02081.0RepeatNote=Blade 2
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361225_12261865.02092.0Repeat3
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361411_14121865.02092.0Repeat4
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361427_14281865.02092.0Repeat5
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361441_14421865.02092.0Repeat6
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361473_14741865.02092.0Repeat7
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936151_1931865.02092.0RepeatNote=Blade 3
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361635_16361865.02092.0Repeat8
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361674_16751865.02092.0Repeat9
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361686_16871865.02092.0Repeat10
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361713_17141865.02092.0Repeat11
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361721_17221865.02092.0Repeat12
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361726_17271865.02092.0Repeat13
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361732_17331865.02092.0Repeat14
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361756_17571865.02092.0Repeat15
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361772_17731865.02092.0Repeat16
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361786_17871865.02092.0Repeat17
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361798_17991865.02092.0Repeat18
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361806_18071865.02092.0Repeat19
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361812_18131865.02092.0Repeat20
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361819_18201865.02092.0Repeat21
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361842_18431865.02092.0Repeat22
TgeneNUP214chr3:57272144chr9:134090599ENST0000045103029361851_18521865.02092.0Repeat23
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936194_2391865.02092.0RepeatNote=Blade 4
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936240_3031865.02092.0RepeatNote=Blade 5
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936304_3591865.02092.0RepeatNote=Blade 6
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936360_4041865.02092.0RepeatNote=Blade 7
TgeneNUP214chr3:57272144chr9:134090599ENST00000451030293641_931865.02092.0RepeatNote=Blade 1
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936484_4851865.02092.0Repeat1
TgeneNUP214chr3:57272144chr9:134090599ENST000004510302936548_5491865.02092.0Repeat2
TgeneNUP214chr3:57272144chr9:134090599ENST00000451030293694_1501865.02092.0RepeatNote=Blade 2


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
NUP214ZFP36, XPO1, NUP107, NXF2, NXF1, XPO5, CRM1, KAP104, IPO5, G3BP1, G3BP2, RAE1, APC, HDAC4, HDAC5, HDAC9, NUP88, SMAD1, Plk1, Nup88, Nup188, Nup214, CLEC4G, SMAD2, SMAD3, SMAD4, SIRT7, RANBP2, CUL3, CUL2, rev, NUPL2, NUP214, MEX67, ACOT13, PNPT1, HSPA1L, VPS4B, S100A6, EEF1A1, STRIP1, RPL19, NDUFA7, ITGA4, SOX2, LMNA, FBXO6, CUL7, OBSL1, NUP62, CLEC11A, DDX19A, KCMF1, CFL1, CSRP1, DYNC1LI1, TRIM28, TXNDC9, NTRK1, IFI16, NUP85, NUP35, KPNB1, UBE2I, NUPL1, NUP153, SEH1L, Ranbp2, Ube2i, Rcc1, Nup107, Kifc1, Nup155, Nup98, C11orf30, CDH1, RAN, FXR2, EMILIN1, SERPINB2, BRCA1, ORF10, CTNNB1, CUL4B, RNF31, ESR2, EZH2, SUZ12, MYC, CDK9, VCP, KIAA1429, NR2C2, HIST1H4A, PTPDC1, RHBDD1, RHBDF2, nsp9, BIRC3, LMBR1L, PLEKHA4, CYLD, ORF6, IMMP1L, IMMP2L, CTIF, DDX19B, GLE1, FARP1, Myo9b, ITSN1, PLEKHG6, ACACA, SUMO2, NFX1, NUPR1, DYRK1A, NUP155, SYNE3, NAA40, NXT2, SLFN11, CCNF, TAX1BP1, SIRT6, DVL2, ETV6,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
APPL1
NUP214all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to APPL1-NUP214


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

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Related Diseases to APPL1-NUP214


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNUP214C0025958Microcephaly1GENOMICS_ENGLAND
TgeneNUP214C0543888Epileptic encephalopathy1GENOMICS_ENGLAND
TgeneNUP214C1836830Developmental regression1GENOMICS_ENGLAND
TgeneNUP214C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET