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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:HAPLN2-MBP (FusionGDB2 ID:35476)

Fusion Gene Summary for HAPLN2-MBP

check button Fusion gene summary
Fusion gene informationFusion gene name: HAPLN2-MBP
Fusion gene ID: 35476
HgeneTgene
Gene symbol

HAPLN2

MBP

Gene ID

60484

5553

Gene namehyaluronan and proteoglycan link protein 2proteoglycan 2, pro eosinophil major basic protein
SynonymsBRAL1BMPG|MBP|MBP1|proMBP
Cytomap

1q23.1

11q12.1

Type of geneprotein-codingprotein-coding
Descriptionhyaluronan and proteoglycan link protein 2brain link protein-1bone 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 date2020031320200313
UniProtAcc

Q9GZV7

P02686

Ensembl transtripts involved in fusion geneENST00000255039, ENST00000494218, 
ENST00000382582, ENST00000355994, 
ENST00000397875, ENST00000397866, 
ENST00000397865, ENST00000527041, 
ENST00000359645, ENST00000528160, 
ENST00000397869, ENST00000354542, 
ENST00000526111, ENST00000580402, 
ENST00000579129, ENST00000578193, 
ENST00000397863, ENST00000397860, 
ENST00000487778, 
Fusion gene scores* DoF score1 X 1 X 1=132 X 27 X 4=3456
# samples 132
** MAII scorelog2(1/1*10)=3.32192809488736log2(32/3456*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HAPLN2 [Title/Abstract] AND MBP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHAPLN2(156593369)-MBP(74700872), # samples:1
Anticipated loss of major functional domain due to fusion event.HAPLN2-MBP seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across HAPLN2 (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 MBP (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
ChiTaRS5.0N/ADA270267HAPLN2chr1

156593369

+MBPchr18

74700872

-


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Fusion Gene ORF analysis for HAPLN2-MBP

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-shiftENST00000255039ENST00000382582HAPLN2chr1

156593369

+MBPchr18

74700872

-
Frame-shiftENST00000255039ENST00000355994HAPLN2chr1

156593369

+MBPchr18

74700872

-
Frame-shiftENST00000255039ENST00000397875HAPLN2chr1

156593369

+MBPchr18

74700872

-
Frame-shiftENST00000255039ENST00000397866HAPLN2chr1

156593369

+MBPchr18

74700872

-
Frame-shiftENST00000255039ENST00000397865HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000527041HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000359645HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000528160HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000397869HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000354542HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000526111HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000580402HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000579129HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000578193HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000397863HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000397860HAPLN2chr1

156593369

+MBPchr18

74700872

-
5CDS-intronENST00000255039ENST00000487778HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-3CDSENST00000494218ENST00000382582HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-3CDSENST00000494218ENST00000355994HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-3CDSENST00000494218ENST00000397875HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-3CDSENST00000494218ENST00000397866HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-3CDSENST00000494218ENST00000397865HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000527041HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000359645HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000528160HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000397869HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000354542HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000526111HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000580402HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000579129HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000578193HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000397863HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000397860HAPLN2chr1

156593369

+MBPchr18

74700872

-
intron-intronENST00000494218ENST00000487778HAPLN2chr1

156593369

+MBPchr18

74700872

-

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 HAPLN2-MBP


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 HAPLN2-MBP


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
HAPLN2

Q9GZV7

MBP

P02686

FUNCTION: Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity). {ECO:0000250}.FUNCTION: The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation. {ECO:0000269|PubMed:8544862}.

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 HAPLN2-MBP


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 HAPLN2-MBP


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 HAPLN2-MBP


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 HAPLN2-MBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMBPC0036341Schizophrenia4PSYGENET
TgeneMBPC0014072Experimental Autoimmune Encephalomyelitis3CTD_human
TgeneMBPC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneMBPC0011303Demyelinating Diseases1CTD_human
TgeneMBPC0011304Demyelination1CTD_human
TgeneMBPC0027873Neuromyelitis Optica1CTD_human
TgeneMBPC2350037Clinically Isolated Syndrome, CNS Demyelinating1CTD_human