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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:NEDD4L-MAP7D2 (FusionGDB2 ID:HG23327TG256714)

Fusion Gene Summary for NEDD4L-MAP7D2

check button Fusion gene summary
Fusion gene informationFusion gene name: NEDD4L-MAP7D2
Fusion gene ID: hg23327tg256714
HgeneTgene
Gene symbol

NEDD4L

MAP7D2

Gene ID

23327

256714

Gene nameNEDD4 like E3 ubiquitin protein ligaseMAP7 domain containing 2
SynonymsNEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2-
Cytomap('NEDD4L')('MAP7D2')

18q21.31

Xp22.12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligaseubiquitin-protein ligase Rsp5MAP7 domain-containing protein 2MAP7 domain containing 2 brainMAP7 domain containing 2 protein varaint 1MAP7 domain containing 2 protein varaint 2MAP7 domain-containing protein 2 brain specific variant 1MAP7 domain-containing protein 2 brain specific
Modification date2020032920200313
UniProtAcc.

Q96T17

Ensembl transtripts involved in fusion geneENST00000256830, ENST00000256832, 
ENST00000356462, ENST00000357895, 
ENST00000382850, ENST00000400345, 
ENST00000431212, ENST00000435432, 
ENST00000456173, ENST00000456986, 
ENST00000586263, ENST00000588516, 
ENST00000589054, 
Fusion gene scores* DoF score28 X 18 X 11=55445 X 6 X 5=150
# samples 359
** MAII scorelog2(35/5544*10)=-3.98550043030488
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/150*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NEDD4L [Title/Abstract] AND MAP7D2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNEDD4L(55971506)-MAP7D2(20114272), # samples:1
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
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



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
ChiTaRS5.0N/ABQ373573NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+


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Fusion Gene ORF analysis for NEDD4L-MAP7D2

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-intronENST00000256830ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256830ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256830ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256830ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256830ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256830ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256832ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256832ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256832ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256832ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256832ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000256832ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000356462ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000356462ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000356462ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000356462ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000356462ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000356462ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000357895ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000357895ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000357895ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000357895ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000357895ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000357895ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000382850ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000382850ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000382850ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000382850ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000382850ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000382850ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000400345ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000400345ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000400345ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000400345ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000400345ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000400345ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000431212ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000431212ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000431212ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000431212ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000431212ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000431212ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000435432ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000435432ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000435432ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000435432ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000435432ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000435432ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456173ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456173ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456173ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456173ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456173ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456173ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456986ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456986ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456986ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456986ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456986ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000456986ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000586263ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000586263ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000586263ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000586263ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000586263ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000586263ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000588516ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000588516ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000588516ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000588516ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000588516ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000588516ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000589054ENST00000379643NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000589054ENST00000379651NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000589054ENST00000443379NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000589054ENST00000452324NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000589054ENST00000466145NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+
intron-intronENST00000589054ENST00000543767NEDD4Lchr18

55971506

+MAP7D2chrX

20114272

+

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)

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

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Fusion Genomic Features for NEDD4L-MAP7D2


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)


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Fusion Protein Features for NEDD4L-MAP7D2


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/:55971506/:20114272)
- 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
.MAP7D2

Q96T17

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for NEDD4L-MAP7D2


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.

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Fusion Gene PPI Analysis for NEDD4L-MAP7D2


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 NEDD4L-MAP7D2


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 NEDD4L-MAP7D2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEDD4LC0020538Hypertensive disease2CTD_human
HgeneNEDD4LC4310669PERIVENTRICULAR NODULAR HETEROTOPIA 72GENOMICS_ENGLAND;UNIPROT
HgeneNEDD4LC0008925Cleft Palate1CTD_human;GENOMICS_ENGLAND
HgeneNEDD4LC0014175Endometriosis1CTD_human
HgeneNEDD4LC0039075Syndactyly1CTD_human
HgeneNEDD4LC0265553Polysyndactyly1CTD_human
HgeneNEDD4LC0269102Endometrioma1CTD_human
HgeneNEDD4LC0543888Epileptic encephalopathy1GENOMICS_ENGLAND
HgeneNEDD4LC1837218Cleft palate, isolated1CTD_human
HgeneNEDD4LC1848213Periventricular Heterotopia, X-Linked1CTD_human
HgeneNEDD4LC1868720Periventricular Nodular Heterotopia1CTD_human;ORPHANET
HgeneNEDD4LC4551969Bilateral Periventricular Nodular Heterotopia1CTD_human