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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:PGAP1-NCKAP5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PGAP1-NCKAP5
FusionPDB ID: 64538
FusionGDB2.0 ID: 64538
HgeneTgene
Gene symbol

PGAP1

NCKAP5

Gene ID

80055

344148

Gene namepost-GPI attachment to proteins inositol deacylase 1NCK associated protein 5
SynonymsBst1|ISPD3024|MRT42|SPG67ERIH1|ERIH2|NAP5
Cytomap

2q33.1

2q21.2

Type of geneprotein-codingprotein-coding
DescriptionGPI inositol-deacylasepost-GPI attachment to proteins 1post-GPI attachment to proteins factor 1nck-associated protein 5NAP-5peripheral clock protein 2
Modification date2020031320200313
UniProtAcc.

Q9HCH0

Ensembl transtripts involved in fusion geneENST idsENST00000354764, ENST00000409475, 
ENST00000409188, ENST00000485830, 
ENST00000473859, ENST00000317721, 
ENST00000405974, ENST00000409213, 
ENST00000409261, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 12 X 7=75614 X 14 X 5=980
# samples 1015
** MAII scorelog2(10/756*10)=-2.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/980*10)=-2.70781924850669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PGAP1 [Title/Abstract] AND NCKAP5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PGAP1(197791194)-NCKAP5(133430878), # samples:2
Anticipated loss of major functional domain due to fusion event.PGAP1-NCKAP5 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.
PGAP1-NCKAP5 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.
PGAP1-NCKAP5 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.
PGAP1-NCKAP5 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

check buttonFusion gene breakpoints across PGAP1 (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 NCKAP5 (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
ChimerDB4LUSCTCGA-21-1070-01APGAP1chr2

197791194

-NCKAP5chr2

133430878

-
ChimerDB4LUSCTCGA-21-1070PGAP1chr2

197791194

-NCKAP5chr2

133430878

-


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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)
ENST00000354764PGAP1chr2197791194-ENST00000409261NCKAP5chr2133430878-176726249543164
ENST00000354764PGAP1chr2197791194-ENST00000409213NCKAP5chr2133430878-51926249516156
ENST00000354764PGAP1chr2197791194-ENST00000405974NCKAP5chr2133430878-2792624927676
ENST00000354764PGAP1chr2197791194-ENST00000317721NCKAP5chr2133430878-2792624927676
ENST00000409475PGAP1chr2197791194-ENST00000409261NCKAP5chr2133430878-176626148542164
ENST00000409475PGAP1chr2197791194-ENST00000409213NCKAP5chr2133430878-51826148515156
ENST00000409475PGAP1chr2197791194-ENST00000405974NCKAP5chr2133430878-2782614827576
ENST00000409475PGAP1chr2197791194-ENST00000317721NCKAP5chr2133430878-2782614827576

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
ENST00000354764ENST00000409261PGAP1chr2197791194-NCKAP5chr2133430878-0.0042318210.9957682
ENST00000354764ENST00000409213PGAP1chr2197791194-NCKAP5chr2133430878-0.78117980.21882017
ENST00000354764ENST00000405974PGAP1chr2197791194-NCKAP5chr2133430878-0.753352340.24664766
ENST00000354764ENST00000317721PGAP1chr2197791194-NCKAP5chr2133430878-0.753352340.24664766
ENST00000409475ENST00000409261PGAP1chr2197791194-NCKAP5chr2133430878-0.003394310.99660563
ENST00000409475ENST00000409213PGAP1chr2197791194-NCKAP5chr2133430878-0.78268570.21731432
ENST00000409475ENST00000405974PGAP1chr2197791194-NCKAP5chr2133430878-0.75470830.24529175
ENST00000409475ENST00000317721PGAP1chr2197791194-NCKAP5chr2133430878-0.75470830.24529175

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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

>64538_64538_1_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000354764_NCKAP5_chr2_133430878_ENST00000317721_length(amino acids)=76AA_BP=

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

>64538_64538_2_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000354764_NCKAP5_chr2_133430878_ENST00000405974_length(amino acids)=76AA_BP=

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

>64538_64538_3_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000354764_NCKAP5_chr2_133430878_ENST00000409213_length(amino acids)=156AA_BP=70
MGPRGGEGGRGGGGGGGGGGGTMFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKLRQLEETKDDPENRLSKI

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>64538_64538_4_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000354764_NCKAP5_chr2_133430878_ENST00000409261_length(amino acids)=164AA_BP=70
MGPRGGEGGRGGGGGGGGGGGTMFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKLRQLEETKDDPENRLSKI

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

>64538_64538_5_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000409475_NCKAP5_chr2_133430878_ENST00000317721_length(amino acids)=76AA_BP=

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

>64538_64538_6_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000409475_NCKAP5_chr2_133430878_ENST00000405974_length(amino acids)=76AA_BP=

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

>64538_64538_7_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000409475_NCKAP5_chr2_133430878_ENST00000409213_length(amino acids)=156AA_BP=70
MGPRGGEGGRGGGGGGGGGGGTMFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKLRQLEETKDDPENRLSKI

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

>64538_64538_8_PGAP1-NCKAP5_PGAP1_chr2_197791194_ENST00000409475_NCKAP5_chr2_133430878_ENST00000409261_length(amino acids)=164AA_BP=70
MGPRGGEGGRGGGGGGGGGGGTMFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKLRQLEETKDDPENRLSKI

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

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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/chr2:197791194/chr2:133430878)
- 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
.NCKAP5

Q9HCH0

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Regulates microtubule organization and stabilization. Promotes microtubule growth and bundling formation and stabilizes microtubules by increasing intense acetylation of microtubules (PubMed:26482847, PubMed:26485573). Both tubulin-binding and homodimer formation are required for NCKAP5L-mediated microtubule bundle formation (PubMed:26485573). {ECO:0000269|PubMed:26482847, ECO:0000269|PubMed:26485573}.

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
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-1271_1149.0923.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-1201_1149.0593.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-12712_3249.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-12012_3249.0593.0TransmembraneHelical
TgeneNCKAP5chr2:197791194chr2:133430878ENST0000040597414161080_1130585.3333333333334591.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000004059741416927_933585.3333333333334591.0Compositional biasNote=Poly-Pro
TgeneNCKAP5chr2:197791194chr2:133430878ENST0000040921316181080_1130585.3333333333334591.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000004092131618927_933585.3333333333334591.0Compositional biasNote=Poly-Pro

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-12733_64149.0923.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127663_66849.0923.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127690_73349.0923.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127755_81749.0923.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127839_85349.0923.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127875_89349.0923.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127915_92249.0923.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-12033_64149.0593.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120663_66849.0593.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120690_73349.0593.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120755_81749.0593.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120839_85349.0593.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120875_89349.0593.0Topological domainCytoplasmic
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120915_92249.0593.0Topological domainLumenal
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127642_66249.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127669_68949.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127734_75449.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127818_83849.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127854_87449.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000354764-127894_91449.0923.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120642_66249.0593.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120669_68949.0593.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120734_75449.0593.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120818_83849.0593.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120854_87449.0593.0TransmembraneHelical
HgenePGAP1chr2:197791194chr2:133430878ENST00000409475-120894_91449.0593.0TransmembraneHelical
TgeneNCKAP5chr2:197791194chr2:133430878ENST00000317721161871_2531904.33333333333331910.0Coiled coilOntology_term=ECO:0000255
TgeneNCKAP5chr2:197791194chr2:133430878ENST00000405974141671_253585.3333333333334591.0Coiled coilOntology_term=ECO:0000255
TgeneNCKAP5chr2:197791194chr2:133430878ENST00000409213161871_253585.3333333333334591.0Coiled coilOntology_term=ECO:0000255
TgeneNCKAP5chr2:197791194chr2:133430878ENST00000409261182071_2531904.33333333333331910.0Coiled coilOntology_term=ECO:0000255
TgeneNCKAP5chr2:197791194chr2:133430878ENST0000031772116181080_11301904.33333333333331910.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000003177211618331_3861904.33333333333331910.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000003177211618927_9331904.33333333333331910.0Compositional biasNote=Poly-Pro
TgeneNCKAP5chr2:197791194chr2:133430878ENST000004059741416331_386585.3333333333334591.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000004092131618331_386585.3333333333334591.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST0000040926118201080_11301904.33333333333331910.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000004092611820331_3861904.33333333333331910.0Compositional biasNote=Ser-rich
TgeneNCKAP5chr2:197791194chr2:133430878ENST000004092611820927_9331904.33333333333331910.0Compositional biasNote=Poly-Pro


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>161_PGAP1_197791194_NCKAP5_133430878_ranked_0.pdbPGAP1197791194197791194ENST00000317721NCKAP5chr2133430878-
MGPRGGEGGRGGGGGGGGGGGTMFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKLRQLEETKDDPENRLSKI
164


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
PGAP1_pLDDT.png
all structure
all structure
NCKAP5_pLDDT.png
all structure
all structure

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


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PGAP1
NCKAP5


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 PGAP1-NCKAP5


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 PGAP1-NCKAP5


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