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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: 23961

FusionGeneSummary for NEDD4L_PIP5K1A

check button Fusion gene summary
Fusion gene informationFusion gene name: NEDD4L_PIP5K1A
Fusion gene ID: 23961
HgeneTgene
Gene symbol

NEDD4L

PIP5K1A

Gene ID

23327

8394

Gene nameneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligasephosphatidylinositol-4-phosphate 5-kinase type 1 alpha
SynonymsNEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2-
Cytomap

18q21.31

1q21.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lubiquitin-protein ligase Rsp5phosphatidylinositol 4-phosphate 5-kinase type-1 alpha68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alphaPIP5K1-alphaPIP5KIalphaphosphatidylinositol 4-phosphate 5-kinase type I alphaptdIns(4)P-5-kinase 1 alpha
Modification date2018052320180519
UniProtAcc

Q96PU5

Q99755

Ensembl transtripts involved in fusion geneENST00000356462, ENST00000400345, 
ENST00000589054, ENST00000256832, 
ENST00000382850, ENST00000256830, 
ENST00000588516, ENST00000456986, 
ENST00000435432, ENST00000357895, 
ENST00000586263, ENST00000456173, 
ENST00000431212, 
ENST00000409426, 
ENST00000441902, ENST00000368890, 
ENST00000368888, ENST00000464105, 
ENST00000414290, 
Fusion gene scores* DoF score18 X 11 X 9=17825 X 5 X 3=75
# samples 205
** MAII scorelog2(20/1782*10)=-3.1554254317472
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NEDD4L [Title/Abstract] AND PIP5K1A [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
HgeneNEDD4L

GO:0003254

regulation of membrane depolarization

15217910

HgeneNEDD4L

GO:0006511

ubiquitin-dependent protein catabolic process

21463633

HgeneNEDD4L

GO:0010038

response to metal ion

11244092

HgeneNEDD4L

GO:0016567

protein ubiquitination

15217910|25631046

HgeneNEDD4L

GO:0034765

regulation of ion transmembrane transport

17289006

HgeneNEDD4L

GO:0042391

regulation of membrane potential

17289006

HgeneNEDD4L

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

21463633

HgeneNEDD4L

GO:0060306

regulation of membrane repolarization

21463633

HgeneNEDD4L

GO:0070936

protein K48-linked ubiquitination

21463633

HgeneNEDD4L

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006

HgeneNEDD4L

GO:1901017

negative regulation of potassium ion transmembrane transporter activity

21463633

HgeneNEDD4L

GO:1901380

negative regulation of potassium ion transmembrane transport

21463633

HgeneNEDD4L

GO:1902306

negative regulation of sodium ion transmembrane transport

15217910

HgeneNEDD4L

GO:1903861

positive regulation of dendrite extension

23999003

HgeneNEDD4L

GO:2000009

negative regulation of protein localization to cell surface

21463633

HgeneNEDD4L

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

15217910

TgenePIP5K1A

GO:0008654

phospholipid biosynthetic process

15157668


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
ChiTaRS3.1BE172039NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
* 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-intronENST00000356462ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000356462ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000356462ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000356462ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000356462ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000356462ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000400345ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000400345ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000400345ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000400345ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000400345ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000400345ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000589054ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000589054ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000589054ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000589054ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000589054ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000589054ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000256832ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000256832ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000256832ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000256832ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000256832ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000256832ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000382850ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000382850ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000382850ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000382850ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000382850ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000382850ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000256830ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000256830ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000256830ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000256830ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000256830ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000256830ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000588516ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000588516ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000588516ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000588516ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000588516ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000588516ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456986ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456986ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456986ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456986ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456986ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456986ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000435432ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000435432ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000435432ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000435432ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000435432ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000435432ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000357895ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000357895ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000357895ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000357895ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000357895ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000357895ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000586263ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000586263ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000586263ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000586263ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000586263ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000586263ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456173ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456173ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456173ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456173ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456173ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
3UTR-intronENST00000456173ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000431212ENST00000409426NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000431212ENST00000441902NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000431212ENST00000368890NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000431212ENST00000368888NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000431212ENST00000464105NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+
intron-intronENST00000431212ENST00000414290NEDD4Lchr18

56064705

-PIP5K1Achr1

151172777

+

Top

FusionProtFeatures for NEDD4L_PIP5K1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NEDD4L

Q96PU5

PIP5K1A

Q99755

Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate(PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety ofcellular processes and is the substrate to formphosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3),another second messenger. The majority of PtdIns(4,5)P2 is thoughtto occur via type I phosphatidylinositol 4-phosphate 5-kinasesgiven the abundance of PtdIns4P. Participates in a variety ofcellular processes such as actin cytoskeleton organization, celladhesion, migration and phagocytosis. Required for membraneruffling formation, actin organization and focal adhesionformation during directional cell migration by controllingintegrin-induced translocation of RAC1 to the plasma membrane.Together with PIP5K1C is required for phagocytosis, but theyregulate different types of actin remodeling at sequential steps.Promotes particle ingestion by activating WAS that induces Arp2/3dependent actin polymerization at the nascent phagocytic cup.Together with PIP5K1B is required after stimulation of G-proteincoupled receptors for stable platelet adhesion. Plays a roleduring calcium-induced keratinocyte differentiation. Recruited tothe plasma membrane by the E-cadherin/beta-catenin complex whereit provides the substrate PtdIns(4,5)P2 for the production ofPtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphatethat mobilize internal calcium and drive keratinocytedifferentiation. Together with PIP5K1C have a role duringembryogenesis. Functions also in the nucleus where acts as anactivator of TUT1 adenylyltransferase activity in nuclearspeckles, thereby regulating mRNA polyadenylation of a select setof mRNAs. {ECO:0000269|PubMed:18288197,ECO:0000269|PubMed:19158393, ECO:0000269|PubMed:20660631}.

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 NEDD4L_PIP5K1A


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 NEDD4L_PIP5K1A


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

RelatedDrugs for NEDD4L_PIP5K1A


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 NEDD4L_PIP5K1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEDD4LC0020538Hypertensive disease2CTD_human
HgeneNEDD4LC0008925Cleft Palate1CTD_human
HgeneNEDD4LC0014175Endometriosis1CTD_human
HgeneNEDD4LC0039075Syndactyly1CTD_human
HgeneNEDD4LC1868720Periventricular Nodular Heterotopia1CTD_human;ORPHANET