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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24705

FusionGeneSummary for NPIPA1_EHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: NPIPA1_EHD2
Fusion gene ID: 24705
HgeneTgene
Gene symbol

NPIPA1

EHD2

Gene ID

9284

30846

Gene namenuclear pore complex interacting protein family member A1EH domain containing 2
SynonymsNPIP|NPIPA|morpheusPAST2
Cytomap

16p13.11

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionnuclear pore complex-interacting protein family member A1nuclear pore complex-interacting protein A typeEH domain-containing protein 2PAST homolog 2
Modification date2018051920180519
UniProtAcc

Q9UND3

Q9NZN4

Ensembl transtripts involved in fusion geneENST00000472413, ENST00000328085, 
ENST00000263277, ENST00000538399, 
ENST00000540884, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 7 X 1=42
# samples 37
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/42*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NPIPA1 [Title/Abstract] AND EHD2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI055814NPIPA1chr16

18433726

-EHD2chr19

48220037

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000472413ENST00000263277NPIPA1chr16

18433726

-EHD2chr19

48220037

+
intron-intronENST00000472413ENST00000538399NPIPA1chr16

18433726

-EHD2chr19

48220037

+
intron-intronENST00000472413ENST00000540884NPIPA1chr16

18433726

-EHD2chr19

48220037

+
intron-3CDSENST00000328085ENST00000263277NPIPA1chr16

18433726

-EHD2chr19

48220037

+
intron-intronENST00000328085ENST00000538399NPIPA1chr16

18433726

-EHD2chr19

48220037

+
intron-intronENST00000328085ENST00000540884NPIPA1chr16

18433726

-EHD2chr19

48220037

+

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FusionProtFeatures for NPIPA1_EHD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPIPA1

Q9UND3

EHD2

Q9NZN4

ATP- and membrane-binding protein that controls membranereorganization/tubulation upon ATP hydrolysis (By similarity).Plays a role in membrane trafficking between the plasma membraneand endosomes (PubMed:17233914). Important for the internalizationof GLUT4. Required for fusion of myoblasts to skeletal musclemyotubes. Required for normal translocation of FER1L5 to theplasma membrane (By similarity). Regulates the equilibrium betweencell surface-associated and cell surface-dissociated caveolae byconstraining caveolae at the cell membrane (PubMed:25588833).{ECO:0000250|UniProtKB:Q8BH64, ECO:0000269|PubMed:17233914,ECO:0000269|PubMed:25588833}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NPIPA1_EHD2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NPIPA1_EHD2


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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RelatedDrugs for NPIPA1_EHD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NPIPA1_EHD2


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