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Center for Computational Systems Medicine
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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:MICAL2-NELL1 (FusionGDB2 ID:53193)

Fusion Gene Summary for MICAL2-NELL1

check button Fusion gene summary
Fusion gene informationFusion gene name: MICAL2-NELL1
Fusion gene ID: 53193
HgeneTgene
Gene symbol

MICAL2

NELL1

Gene ID

9645

4745

Gene namemicrotubule associated monooxygenase, calponin and LIM domain containing 2neural EGFL like 1
SynonymsMICAL-2|MICAL2PV1|MICAL2PV2IDH3GL|NRP1
Cytomap

11p15.3

11p15.1

Type of geneprotein-codingprotein-coding
Description[F-actin]-monooxygenase MICAL2[F-actin]-methionine sulfoxide oxidase MICAL2flavoprotein oxidoreductase MICAL2microtubule associated monoxygenase, calponin and LIM domain containing 2molecule interacting with CasL protein 2protein-methionine sulfoxideprotein kinase C-binding protein NELL1nel-related protein 1neural epidermal growth factor-like 1
Modification date2020032020200313
UniProtAcc

O94851

Q92832

Ensembl transtripts involved in fusion geneENST00000537344, ENST00000256194, 
ENST00000527546, ENST00000342902, 
ENST00000379612, ENST00000527195, 
ENST00000298925, ENST00000357134, 
ENST00000325319, ENST00000532434, 
ENST00000529218, 
Fusion gene scores* DoF score7 X 7 X 5=24516 X 16 X 3=768
# samples 716
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/768*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MICAL2 [Title/Abstract] AND NELL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMICAL2(12183966)-NELL1(21392399), # samples:2
Anticipated loss of major functional domain due to fusion event.MICAL2-NELL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneMICAL2

GO:0007010

cytoskeleton organization

24440334

HgeneMICAL2

GO:0030042

actin filament depolymerization

24440334

HgeneMICAL2

GO:0055114

oxidation-reduction process

24440334

TgeneNELL1

GO:0010468

regulation of gene expression

21723284

TgeneNELL1

GO:0030501

positive regulation of bone mineralization

21723284

TgeneNELL1

GO:0033689

negative regulation of osteoblast proliferation

21723284

TgeneNELL1

GO:0045669

positive regulation of osteoblast differentiation

21723284

TgeneNELL1

GO:1903363

negative regulation of cellular protein catabolic process

21723284


check buttonFusion gene breakpoints across MICAL2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NELL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4SARCTCGA-DX-A1KU-01AMICAL2chr11

12183966

+NELL1chr11

21392399

+
ChimerDB4SARCTCGA-DX-A1KU-01AMICAL2chr11

12183966

-NELL1chr11

21392399

+


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Fusion Gene ORF analysis for MICAL2-NELL1

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
Frame-shiftENST00000537344ENST00000298925MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000537344ENST00000357134MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000537344ENST00000325319MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000537344ENST00000532434MICAL2chr11

12183966

+NELL1chr11

21392399

+
5CDS-3UTRENST00000537344ENST00000529218MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000256194ENST00000298925MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000256194ENST00000357134MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000256194ENST00000325319MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000256194ENST00000532434MICAL2chr11

12183966

+NELL1chr11

21392399

+
5CDS-3UTRENST00000256194ENST00000529218MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000527546ENST00000298925MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000527546ENST00000357134MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000527546ENST00000325319MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000527546ENST00000532434MICAL2chr11

12183966

+NELL1chr11

21392399

+
5CDS-3UTRENST00000527546ENST00000529218MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000342902ENST00000298925MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000342902ENST00000357134MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000342902ENST00000325319MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000342902ENST00000532434MICAL2chr11

12183966

+NELL1chr11

21392399

+
5CDS-3UTRENST00000342902ENST00000529218MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000379612ENST00000298925MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000379612ENST00000357134MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000379612ENST00000325319MICAL2chr11

12183966

+NELL1chr11

21392399

+
Frame-shiftENST00000379612ENST00000532434MICAL2chr11

12183966

+NELL1chr11

21392399

+
5CDS-3UTRENST00000379612ENST00000529218MICAL2chr11

12183966

+NELL1chr11

21392399

+
intron-3CDSENST00000527195ENST00000298925MICAL2chr11

12183966

+NELL1chr11

21392399

+
intron-3CDSENST00000527195ENST00000357134MICAL2chr11

12183966

+NELL1chr11

21392399

+
intron-3CDSENST00000527195ENST00000325319MICAL2chr11

12183966

+NELL1chr11

21392399

+
intron-3CDSENST00000527195ENST00000532434MICAL2chr11

12183966

+NELL1chr11

21392399

+
intron-3UTRENST00000527195ENST00000529218MICAL2chr11

12183966

+NELL1chr11

21392399

+

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 MICAL2-NELL1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MICAL2-NELL1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MICAL2

O94851

NELL1

Q92832

FUNCTION: Nuclear monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:24440334). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (By similarity). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promote SRF:MKL1/MRTF-A-dependent gene transcription. Does not activate SRF:MKL1/MRTF-A through RhoA (PubMed:24440334). {ECO:0000250|UniProtKB:Q8TDZ2, ECO:0000269|PubMed:24440334}.FUNCTION: Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization. {ECO:0000269|PubMed:21723284}.

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 MICAL2-NELL1


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 MICAL2-NELL1


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 MICAL2-NELL1


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 MICAL2-NELL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNELL1C0010278Craniosynostosis1CTD_human
TgeneNELL1C0030044Acrocephaly1CTD_human
TgeneNELL1C0041696Unipolar Depression1PSYGENET
TgeneNELL1C0221356Brachycephaly1CTD_human
TgeneNELL1C0265534Scaphycephaly1CTD_human
TgeneNELL1C0265535Trigonocephaly1CTD_human
TgeneNELL1C0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneNELL1C1269683Major Depressive Disorder1PSYGENET
TgeneNELL1C1833340Synostotic Posterior Plagiocephaly1CTD_human
TgeneNELL1C1860819Metopic synostosis1CTD_human
TgeneNELL1C2931150Synostotic Anterior Plagiocephaly1CTD_human
TgeneNELL1C4551902Craniosynostosis, Type 11CTD_human