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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:METTL1-NELL2 (FusionGDB2 ID:53074)

Fusion Gene Summary for METTL1-NELL2

check button Fusion gene summary
Fusion gene informationFusion gene name: METTL1-NELL2
Fusion gene ID: 53074
HgeneTgene
Gene symbol

METTL1

NELL2

Gene ID

4234

4753

Gene namemethyltransferase like 1neural EGFL like 2
SynonymsC12orf1|TRM8|TRMT8|YDL201wNRP2
Cytomap

12q14.1

12q12

Type of geneprotein-codingprotein-coding
DescriptiontRNA (guanine-N(7)-)-methyltransferaseD1075-like gene productmRNA (guanine-N(7)-)-methyltransferasemethyltransferase-like protein 1miRNA (guanine-N(7)-)-methyltransferasetRNA (guanine(46)-N(7))-methyltransferasetRNA(m7G46)-methyltransferaseprotein kinase C-binding protein NELL2NEL-like protein 2NEL-related protein 2neural epidermal growth factor-like 2
Modification date2020031320200313
UniProtAcc

Q9UBP6

Q99435

Ensembl transtripts involved in fusion geneENST00000257848, ENST00000324871, 
ENST00000548681, 
ENST00000547172, 
ENST00000548826, ENST00000333837, 
ENST00000395487, ENST00000429094, 
ENST00000437801, ENST00000452445, 
ENST00000549027, ENST00000551601, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 6 X 6=252
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: METTL1 [Title/Abstract] AND NELL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMETTL1(58165757)-NELL2(45004753), # samples:1
Anticipated loss of major functional domain due to fusion event.METTL1-NELL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
METTL1-NELL2 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
HgeneMETTL1

GO:0006400

tRNA modification

12403464|15861136


check buttonFusion gene breakpoints across METTL1 (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 NELL2 (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
ChimerDB4GBMTCGA-19-5960-01AMETTL1chr12

58165757

-NELL2chr12

45004753

-


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Fusion Gene ORF analysis for METTL1-NELL2

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
5CDS-intronENST00000257848ENST00000547172METTL1chr12

58165757

-NELL2chr12

45004753

-
5CDS-intronENST00000257848ENST00000548826METTL1chr12

58165757

-NELL2chr12

45004753

-
5CDS-intronENST00000324871ENST00000547172METTL1chr12

58165757

-NELL2chr12

45004753

-
5CDS-intronENST00000324871ENST00000548826METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000333837METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000395487METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000429094METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000437801METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000452445METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000549027METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-3CDSENST00000548681ENST00000551601METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-intronENST00000548681ENST00000547172METTL1chr12

58165757

-NELL2chr12

45004753

-
5UTR-intronENST00000548681ENST00000548826METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000333837METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000395487METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000429094METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000437801METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000452445METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000549027METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000257848ENST00000551601METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000333837METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000395487METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000429094METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000437801METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000452445METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000549027METTL1chr12

58165757

-NELL2chr12

45004753

-
Frame-shiftENST00000324871ENST00000551601METTL1chr12

58165757

-NELL2chr12

45004753

-

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 METTL1-NELL2


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 METTL1-NELL2


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/:58165757/:45004753)
- 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
METTL1

Q9UBP6

NELL2

Q99435

FUNCTION: Methyltransferase that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031084, PubMed:31031083). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA (PubMed:12403464, PubMed:31031084). Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs (PubMed:31031084). Internal N(7)-methylguanine methylation of mRNAs regulates translation (PubMed:31031084). Also methylates a specific subset of miRNAs, such as let-7 (PubMed:31031083). N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory secondary structure within the primary miRNA transcript (pri-miRNA) (PubMed:31031083). Acts as a regulator of embryonic stem cell self-renewal and differentiation (By similarity). {ECO:0000255|HAMAP-Rule:MF_03055, ECO:0000269|PubMed:12403464, ECO:0000269|PubMed:31031083, ECO:0000269|PubMed:31031084}.FUNCTION: Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity). {ECO:0000250|UniProtKB:Q62918}.

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 METTL1-NELL2


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 METTL1-NELL2


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 METTL1-NELL2


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 METTL1-NELL2


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