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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:HLA-DPB1-MAST3 (FusionGDB2 ID:36672)

Fusion Gene Summary for HLA-DPB1-MAST3

Fusion gene summary

Fusion gene information	Fusion gene name: HLA-DPB1-MAST3
	Fusion gene ID: 36672
		Hgene	Tgene
	Gene symbol	HLA-DPB1	MAST3
	Gene ID	3125	23031
	Gene name	major histocompatibility complex, class II, DR beta 3	microtubule associated serine/threonine kinase 3
	Synonyms	DRB3\|HLA-DPB1\|HLA-DR1B\|HLA-DR3B	-
	Cytomap	6p21.3	19p13.11
	Type of gene	protein-coding	protein-coding
	Description	major histocompatibility complex, class II, DR beta 3HLA DRB3HLA class II histocompatibility antigen, DR beta 3 chainMHC class II DR beta chainMHC class II HLA-DR beta 3 chainMHC class II antigen DR beta 3 chainMHC class II antigen DRB3MHC class II	microtubule-associated serine/threonine-protein kinase 3
	Modification date	20200319	20200313
	UniProtAcc	P04440	O60307
	Ensembl transtripts involved in fusion gene	ENST00000535465, ENST00000383102, ENST00000399491, ENST00000399500, ENST00000411424, ENST00000411558, ENST00000411749, ENST00000415996, ENST00000418931, ENST00000425130, ENST00000433800, ENST00000441857, ENST00000441981, ENST00000444931, ENST00000447783, ENST00000454006, ENST00000461155, ENST00000469961, ENST00000471184, ENST00000472101, ENST00000474044, ENST00000481615, ENST00000491972, ENST00000492916, ENST00000548074, ENST00000548235, ENST00000548608, ENST00000548907, ENST00000550949, ENST00000551599, ENST00000552574, ENST00000553195,	ENST00000262811, ENST00000608648,
Fusion gene scores	* DoF score	4 X 6 X 1=24	6 X 8 X 4=192
	# samples	6	8
	** MAII score	log2(6/24*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HLA-DPB1 [Title/Abstract] AND MAST3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HLA-DPB1(33049916)-MAST3(18232009), # samples:1
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

Fusion gene breakpoints across HLA-DPB1 (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 MAST3 (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	AK301322	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+

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Fusion Gene ORF analysis for HLA-DPB1-MAST3

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
5CDS-intron	ENST00000535465	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
5CDS-intron	ENST00000535465	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000383102	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000383102	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000399491	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000399491	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000399500	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000399500	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000411424	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000411424	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000411558	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000411558	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000411749	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000411749	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000415996	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000415996	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000418931	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000418931	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000425130	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000425130	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000433800	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000433800	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000441857	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000441857	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000441981	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000441981	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000444931	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000444931	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000447783	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000447783	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000454006	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000454006	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000461155	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000461155	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000469961	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000469961	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000471184	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000471184	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000472101	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000472101	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000474044	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000474044	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000481615	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000481615	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000491972	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000491972	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000492916	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000492916	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548074	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548074	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548235	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548235	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548608	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548608	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548907	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000548907	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000550949	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000550949	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000551599	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000551599	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000552574	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000552574	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000553195	ENST00000262811	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+
intron-intron	ENST00000553195	ENST00000608648	HLA-DPB1	chr6	33049916	+	MAST3	chr19	18232009	+

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 HLA-DPB1-MAST3

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 HLA-DPB1-MAST3

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:33049916/:18232009)
- 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
HLA-DPB1 P04440	MAST3 O60307
FUNCTION: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.

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 HLA-DPB1-MAST3

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 HLA-DPB1-MAST3

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 HLA-DPB1-MAST3

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 HLA-DPB1-MAST3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source