	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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	RelatedDiseases

Fusion gene ID: 11084

FusionGeneSummary for EFR3B_MBP

Fusion gene summary

Fusion gene information	Fusion gene name: EFR3B_MBP
	Fusion gene ID: 11084
		Hgene	Tgene
	Gene symbol	EFR3B	MBP
	Gene ID	22979	5553
	Gene name	EFR3 homolog B	proteoglycan 2, pro eosinophil major basic protein
	Synonyms	KIAA0953	BMPG\|MBP\|MBP1\|proMBP
	Cytomap	2p23.3	11q12.1
	Type of gene	protein-coding	protein-coding
	Description	protein EFR3 homolog B	bone marrow proteoglycaneosinophil granule major basic proteineosinophil major basic proteinnatural killer cell activatorproteoglycan 2 preproproteinproteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)
	Modification date	20180519	20180519
	UniProtAcc	Q9Y2G0	P02686
	Ensembl transtripts involved in fusion gene	ENST00000401432, ENST00000403714, ENST00000402191, ENST00000405108,	ENST00000382582, ENST00000355994, ENST00000397875, ENST00000397866, ENST00000397865, ENST00000527041, ENST00000359645, ENST00000528160, ENST00000397869, ENST00000354542, ENST00000526111, ENST00000580402, ENST00000579129, ENST00000578193, ENST00000397863, ENST00000397860, ENST00000487778,
Fusion gene scores	* DoF score	4 X 4 X 3=48	26 X 20 X 3=1560
	# samples	4	27
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(27/1560*10)=-2.53051471669878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: EFR3B [Title/Abstract] AND MBP [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)

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	EFR3B	GO:0046854	phosphatidylinositol phosphorylation	23229899
Hgene	EFR3B	GO:0072659	protein localization to plasma membrane	23229899

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			AW515324	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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	ENST00000401432	ENST00000382582	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000355994	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000397875	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000397866	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000397865	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000527041	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000359645	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000528160	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000397869	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000354542	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000526111	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000580402	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000579129	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000578193	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000397863	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000397860	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000401432	ENST00000487778	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000382582	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000355994	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000397875	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000397866	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000397865	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000527041	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000359645	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000528160	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000397869	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000354542	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000526111	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000580402	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000579129	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000578193	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000397863	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000397860	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000403714	ENST00000487778	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000382582	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000355994	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000397875	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000397866	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000397865	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000527041	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000359645	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000528160	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000397869	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000354542	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000526111	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000580402	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000579129	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000578193	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000397863	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000397860	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000402191	ENST00000487778	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000382582	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000355994	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000397875	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000397866	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000397865	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000527041	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000359645	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000528160	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000397869	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000354542	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000526111	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000580402	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000579129	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000578193	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000397863	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000397860	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+
intron-intron	ENST00000405108	ENST00000487778	EFR3B	chr2	25297317	+	MBP	chr18	74770527	+

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FusionProtFeatures for EFR3B_MBP

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

Hgene	Tgene
EFR3B Q9Y2G0	MBP P02686
Component of a complex required to localizephosphatidylinositol 4-kinase (PI4K) to the plasma membrane(PubMed:23229899, PubMed:25608530, PubMed:26571211). The complexacts as a regulator of phosphatidylinositol 4-phosphate(PtdIns(4)P) synthesis (Probable). In the complex, EFR3B probablyacts as the membrane-anchoring component (PubMed:23229899). Alsoinvolved in responsiveness to G-protein-coupled receptors; it ishowever unclear whether this role is direct or indirect(PubMed:25380825). {ECO:0000269\|PubMed:23229899,ECO:0000269\|PubMed:25380825, ECO:0000269\|PubMed:25608530,ECO:0000269\|PubMed:26571211, ECO:0000305}.

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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FusionGeneSequence for EFR3B_MBP

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 EFR3B_MBP

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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RelatedDrugs for EFR3B_MBP

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for EFR3B_MBP

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	MBP	C0036341	Schizophrenia	4	PSYGENET
Tgene	MBP	C0014072	Experimental Autoimmune Encephalomyelitis	3	CTD_human
Tgene	MBP	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
Tgene	MBP	C0011303	Demyelinating Diseases	1	CTD_human
Tgene	MBP	C0027873	Neuromyelitis Optica	1	CTD_human

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Fusion gene ID: 11084

FusionGeneSummary for EFR3B_MBP

FusionProtFeatures for EFR3B_MBP

FusionGeneSequence for EFR3B_MBP

FusionGenePPI for EFR3B_MBP

RelatedDrugs for EFR3B_MBP

RelatedDiseases for EFR3B_MBP