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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:TAB2-SLTM (FusionGDB2 ID:88028)

Fusion Gene Summary for TAB2-SLTM

Fusion gene summary

Fusion gene information	Fusion gene name: TAB2-SLTM
	Fusion gene ID: 88028
		Hgene	Tgene
	Gene symbol	TAB2	SLTM
	Gene ID	23118	79811
	Gene name	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	SAFB like transcription modulator
	Synonyms	CHTD2\|MAP3K7IP2\|TAB-2	Met
	Cytomap	6q25.1	15q22.1
	Type of gene	protein-coding	protein-coding
	Description	TGF-beta-activated kinase 1 and MAP3K7-binding protein 2TAK1-binding protein 2mitogen-activated protein kinase kinase kinase 7-interacting protein 2	SAFB-like transcription modulatormodulator of estrogen-induced transcription
	Modification date	20200315	20200313
	UniProtAcc	.	Q9NWH9
	Ensembl transtripts involved in fusion gene	ENST00000536230, ENST00000392282, ENST00000538427, ENST00000367456, ENST00000461481, ENST00000286332,	ENST00000380516, ENST00000536328, ENST00000557950,
Fusion gene scores	* DoF score	20 X 17 X 5=1700	12 X 15 X 5=900
	# samples	19	16
	** MAII score	log2(19/1700*10)=-3.16146342269412 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/900*10)=-2.49185309632967 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: TAB2 [Title/Abstract] AND SLTM [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	TAB2(149731578)-SLTM(59185559), # 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
Hgene	TAB2	GO:0032496	response to lipopolysaccharide	19193853
Hgene	TAB2	GO:0045860	positive regulation of protein kinase activity	11460167

Fusion gene breakpoints across TAB2 (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 SLTM (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	AW379046	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-

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Fusion Gene ORF analysis for TAB2-SLTM

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-3CDS	ENST00000536230	ENST00000380516	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-3CDS	ENST00000536230	ENST00000536328	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-intron	ENST00000536230	ENST00000557950	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-3CDS	ENST00000392282	ENST00000380516	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-3CDS	ENST00000392282	ENST00000536328	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-intron	ENST00000392282	ENST00000557950	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-3CDS	ENST00000538427	ENST00000380516	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-3CDS	ENST00000538427	ENST00000536328	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-intron	ENST00000538427	ENST00000557950	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-3CDS	ENST00000367456	ENST00000380516	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-3CDS	ENST00000367456	ENST00000536328	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-intron	ENST00000367456	ENST00000557950	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-3CDS	ENST00000461481	ENST00000380516	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-3CDS	ENST00000461481	ENST00000536328	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
intron-intron	ENST00000461481	ENST00000557950	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-3CDS	ENST00000286332	ENST00000380516	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-3CDS	ENST00000286332	ENST00000536328	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-
3UTR-intron	ENST00000286332	ENST00000557950	TAB2	chr6	149731578	-	SLTM	chr15	59185559	-

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 TAB2-SLTM

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 TAB2-SLTM

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.

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

Hgene	Tgene
.	SLTM Q9NWH9
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis. {ECO:0000250}.

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 TAB2-SLTM

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 TAB2-SLTM

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 TAB2-SLTM

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 TAB2-SLTM

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	TAB2	C3554279	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	TAB2	C3150215	CHROMOSOME 6q24-q25 DELETION SYNDROME	1	GENOMICS_ENGLAND
Hgene	TAB2	C4509918	Polyvalvular heart disease syndrome	1	ORPHANET