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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:MAEA-PBX1 (FusionGDB2 ID:50702)

Fusion Gene Summary for MAEA-PBX1

Fusion gene summary

Fusion gene information	Fusion gene name: MAEA-PBX1
	Fusion gene ID: 50702
		Hgene	Tgene
	Gene symbol	MAEA	PBX1
	Gene ID	10296	5087
	Gene name	macrophage erythroblast attacher, E3 ubiquitin ligase	PBX homeobox 1
	Synonyms	EMLP\|EMP\|GID9\|HLC-10\|P44EMLP\|PIG5	CAKUHED
	Cytomap	4p16.3	1q23.3
	Type of gene	protein-coding	protein-coding
	Description	E3 ubiquitin-protein transferase MAEAGID complex subunit 9, FYV10 homologcell proliferation-inducing gene 5 proteinerythroblast macrophage proteinhuman lung cancer oncogene 10 proteinlung cancer-related protein 10macrophage erythroblast attacher	pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1
	Modification date	20200314	20200313
	UniProtAcc	Q7L5Y9	P40424
	Ensembl transtripts involved in fusion gene	ENST00000264750, ENST00000303400, ENST00000452175, ENST00000505177, ENST00000505839, ENST00000510794, ENST00000512289, ENST00000514708,	ENST00000367897, ENST00000401534, ENST00000420696, ENST00000474046, ENST00000485769, ENST00000540236, ENST00000540246, ENST00000559240, ENST00000560641,
Fusion gene scores	* DoF score	7 X 7 X 5=245	13 X 13 X 8=1352
	# samples	11	17
	** MAII score	log2(11/245*10)=-1.15527822547791 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(17/1352*10)=-2.99148850014448 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MAEA [Title/Abstract] AND PBX1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MAEA(1295743)-PBX1(164611573), # samples:2
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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	MAEA	GO:0007155	cell adhesion	9763581
Hgene	MAEA	GO:0033033	negative regulation of myeloid cell apoptotic process	9763581

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

Fusion gene breakpoints across PBX1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	CV412791	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
ChiTaRS5.0	N/A	CV412837	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-

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Fusion Gene ORF analysis for MAEA-PBX1

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000264750	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000264750	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000303400	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000452175	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505177	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000505839	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000510794	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000512289	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000367897	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000401534	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000420696	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000474046	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000485769	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000540236	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000540246	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000559240	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-
intron-intron	ENST00000514708	ENST00000560641	MAEA	chr4	1295743	-	PBX1	chr1	164611573	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for MAEA-PBX1

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 MAEA-PBX1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1295743/:164611573)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
MAEA Q7L5Y9	PBX1 P40424
FUNCTION: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable). {ECO:0000250\|UniProtKB:Q4VC33, ECO:0000269\|PubMed:29911972, ECO:0000269\|PubMed:9763581, ECO:0000305\|PubMed:16510120}.	FUNCTION: Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:8327485, PubMed:7791786). Acts as a transcriptional activator of PF4 in complex with MEIS1 (PubMed:12609849). Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence (By similarity). In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity). Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 (PubMed:21746878). Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity). Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity). {ECO:0000250\|UniProtKB:P41778, ECO:0000269\|PubMed:12609849, ECO:0000269\|PubMed:21746878, ECO:0000269\|PubMed:7791786, ECO:0000269\|PubMed:8327485, ECO:0000269\|PubMed:9191052}.; FUNCTION: [Isoform PBX1b]: As part of a PDX1:PBX1b:MEIS2B complex in pancreatic acinar cells, is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. {ECO:0000250\|UniProtKB:P41778}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for MAEA-PBX1

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 MAEA-PBX1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for MAEA-PBX1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for MAEA-PBX1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source