	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 24157

FusionGeneSummary for NFAT5_TCF7L2

Fusion gene summary

Fusion gene information	Fusion gene name: NFAT5_TCF7L2
	Fusion gene ID: 24157
		Hgene	Tgene
	Gene symbol	NFAT5	TCF7L2
	Gene ID	10725	6934
	Gene name	nuclear factor of activated T cells 5	transcription factor 7 like 2
	Synonyms	NF-AT5\|NFATL1\|NFATZ\|OREBP\|TONEBP	TCF-4\|TCF4
	Cytomap	16q22.1	10q25.2-q25.3
	Type of gene	protein-coding	protein-coding
	Description	nuclear factor of activated T-cells 5NFAT-like protein 1T-cell transcription factor NFAT5TonE-binding proteinglutamine rich protein H65nuclear factor of activated T-cells 5, tonicity-responsiveosmotic response element-binding proteintonicity-respon	transcription factor 7-like 2HMG box transcription factor 4T-cell factor 4T-cell-specific transcription factor 4hTCF-4transcription factor 7-like 2 (T-cell specific, HMG-box)
	Modification date	20180523	20180527
	UniProtAcc	O94916	Q9NQB0
	Ensembl transtripts involved in fusion gene	ENST00000349945, ENST00000432919, ENST00000354436, ENST00000567239, ENST00000393742, ENST00000566899,	ENST00000534894, ENST00000536810, ENST00000545257, ENST00000355995, ENST00000543371, ENST00000355717, ENST00000538897, ENST00000349937, ENST00000369397, ENST00000352065, ENST00000369395, ENST00000542695, ENST00000369389, ENST00000369386, ENST00000466338,
Fusion gene scores	* DoF score	20 X 6 X 14=1680	5 X 3 X 6=90
	# samples	21	10
	** MAII score	log2(21/1680*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/90*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: NFAT5 [Title/Abstract] AND TCF7L2 [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	NFAT5	GO:0045944	positive regulation of transcription by RNA polymerase II	11485737
Tgene	TCF7L2	GO:0000122	negative regulation of transcription by RNA polymerase II	12799378
Tgene	TCF7L2	GO:0006357	regulation of transcription by RNA polymerase II	9727977
Tgene	TCF7L2	GO:0032092	positive regulation of protein binding	12799378
Tgene	TCF7L2	GO:0032350	regulation of hormone metabolic process	15525634
Tgene	TCF7L2	GO:0042593	glucose homeostasis	15525634
Tgene	TCF7L2	GO:0043433	negative regulation of DNA binding transcription factor activity	12799378
Tgene	TCF7L2	GO:0045444	fat cell differentiation	10937998
Tgene	TCF7L2	GO:0045892	negative regulation of transcription, DNA-templated	12799378\|15525634
Tgene	TCF7L2	GO:0045944	positive regulation of transcription by RNA polymerase II	9065401\|19168596
Tgene	TCF7L2	GO:0048625	myoblast fate commitment	10937998

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
TCGA	RV	PRAD	TCGA-HC-7209-01A	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+

* 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
5UTR-3CDS	ENST00000349945	ENST00000534894	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000536810	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000545257	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000355995	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000543371	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000355717	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000538897	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000349937	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000369397	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000352065	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000349945	ENST00000369395	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-5UTR	ENST00000349945	ENST00000542695	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000349945	ENST00000369389	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000349945	ENST00000369386	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000349945	ENST00000466338	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000534894	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000536810	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000545257	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000355995	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000543371	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000355717	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000538897	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000349937	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000369397	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000352065	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000432919	ENST00000369395	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-5UTR	ENST00000432919	ENST00000542695	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000432919	ENST00000369389	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000432919	ENST00000369386	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000432919	ENST00000466338	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000534894	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000536810	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000545257	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000355995	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000543371	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000355717	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000538897	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000349937	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000369397	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000352065	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000354436	ENST00000369395	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-5UTR	ENST00000354436	ENST00000542695	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000354436	ENST00000369389	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000354436	ENST00000369386	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000354436	ENST00000466338	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000534894	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000536810	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000545257	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000355995	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000543371	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000355717	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000538897	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000349937	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000369397	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000352065	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
Frame-shift	ENST00000567239	ENST00000369395	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-5UTR	ENST00000567239	ENST00000542695	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000567239	ENST00000369389	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000567239	ENST00000369386	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5CDS-intron	ENST00000567239	ENST00000466338	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000534894	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000536810	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000545257	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000355995	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000543371	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000355717	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000538897	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000349937	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000369397	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000352065	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000393742	ENST00000369395	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-5UTR	ENST00000393742	ENST00000542695	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000393742	ENST00000369389	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000393742	ENST00000369386	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000393742	ENST00000466338	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000534894	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000536810	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000545257	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000355995	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000543371	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000355717	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000538897	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000349937	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000369397	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000352065	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-3CDS	ENST00000566899	ENST00000369395	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-5UTR	ENST00000566899	ENST00000542695	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000566899	ENST00000369389	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000566899	ENST00000369386	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+
5UTR-intron	ENST00000566899	ENST00000466338	NFAT5	chr16	69600277	+	TCF7L2	chr10	114900943	+

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FusionProtFeatures for NFAT5_TCF7L2

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

Hgene	Tgene
NFAT5 O94916	TCF7L2 Q9NQB0

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 NFAT5_TCF7L2

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 NFAT5_TCF7L2

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
NFAT5	NFAT5, FOS, JUN, PRKACA, TRIM25	TCF7L2	NLK, JUP, PSEN1, DAZAP2, CTNNB1, CTBP1, PARP1, XRCC6, XRCC5, ELAVL1, MAD2L2, ZBTB33, DAXX, FBLN1, UBE2I, PSMA3, PML, MEN1, USP4, HBP1, AR, FUS, CDC73, RNF138, HIC1, EP300, SMAD7, SETD8, LEF1, RNF43, TLE3, XIAP, IKZF5, PRMT6, UHRF2

- 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 NFAT5_TCF7L2

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 NFAT5_TCF7L2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	TCF7L2	C0036341	Schizophrenia	4	PSYGENET
Tgene	TCF7L2	C0009404	Colorectal Neoplasms	2	CTD_human
Tgene	TCF7L2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	2	CTD_human
Tgene	TCF7L2	C0001418	Adenocarcinoma	1	CTD_human
Tgene	TCF7L2	C0005586	Bipolar Disorder	1	PSYGENET
Tgene	TCF7L2	C0009375	Colonic Neoplasms	1	CTD_human
Tgene	TCF7L2	C0020507	Hyperplasia	1	CTD_human
Tgene	TCF7L2	C0036337	Schizoaffective Disorder	1	PSYGENET
Tgene	TCF7L2	C3495559	Juvenile arthritis	1	CTD_human

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Fusion gene ID: 24157

FusionGeneSummary for NFAT5_TCF7L2

FusionProtFeatures for NFAT5_TCF7L2

FusionGeneSequence for NFAT5_TCF7L2

FusionGenePPI for NFAT5_TCF7L2

RelatedDrugs for NFAT5_TCF7L2

RelatedDiseases for NFAT5_TCF7L2