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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:FHIT-TKT (FusionGDB2 ID:30278)

Fusion Gene Summary for FHIT-TKT

Fusion gene summary

Fusion gene information	Fusion gene name: FHIT-TKT
	Fusion gene ID: 30278
		Hgene	Tgene
	Gene symbol	FHIT	TKT
	Gene ID	2272	7086
	Gene name	fragile histidine triad diadenosine triphosphatase	transketolase
	Synonyms	AP3Aase\|FRA3B	HEL-S-48\|HEL107\|SDDHD\|TK\|TKT1
	Cytomap	3p14.2	3p21.1
	Type of gene	protein-coding	protein-coding
	Description	bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase	transketolaseepididymis luminal protein 107epididymis secretory protein Li 48
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000476844, ENST00000492590, ENST00000466788, ENST00000468189, ENST00000341848,	ENST00000462138, ENST00000423525, ENST00000461139, ENST00000423516, ENST00000296289,
Fusion gene scores	* DoF score	26 X 19 X 9=4446	18 X 16 X 9=2592
	# samples	26	25
	** MAII score	log2(26/4446*10)=-4.09592441999854 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(25/2592*10)=-3.37406571822254 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FHIT [Title/Abstract] AND TKT [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FHIT(60807613)-TKT(53276258), # samples:2
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	FHIT	GO:0006163	purine nucleotide metabolic process	9323207
Tgene	TKT	GO:0046166	glyceraldehyde-3-phosphate biosynthetic process	9611778

Fusion gene breakpoints across FHIT (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 TKT (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
ChimerDB4	LIHC	TCGA-RC-A6M4-01A	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
ChimerDB4	LIHC	TCGA-RC-A6M4-01A	FHIT	chr3	60807613	-	TKT	chr3	53276258	-

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Fusion Gene ORF analysis for FHIT-TKT

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	ENST00000476844	ENST00000462138	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-3CDS	ENST00000476844	ENST00000423525	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-intron	ENST00000476844	ENST00000461139	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-intron	ENST00000476844	ENST00000423516	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-5UTR	ENST00000476844	ENST00000296289	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-3CDS	ENST00000492590	ENST00000462138	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-3CDS	ENST00000492590	ENST00000423525	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-intron	ENST00000492590	ENST00000461139	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-intron	ENST00000492590	ENST00000423516	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-5UTR	ENST00000492590	ENST00000296289	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-3CDS	ENST00000466788	ENST00000462138	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-3CDS	ENST00000466788	ENST00000423525	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-intron	ENST00000466788	ENST00000461139	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-intron	ENST00000466788	ENST00000423516	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-5UTR	ENST00000466788	ENST00000296289	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-3CDS	ENST00000468189	ENST00000462138	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-3CDS	ENST00000468189	ENST00000423525	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-intron	ENST00000468189	ENST00000461139	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-intron	ENST00000468189	ENST00000423516	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
5UTR-5UTR	ENST00000468189	ENST00000296289	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-3CDS	ENST00000341848	ENST00000462138	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-3CDS	ENST00000341848	ENST00000423525	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-intron	ENST00000341848	ENST00000461139	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-intron	ENST00000341848	ENST00000423516	FHIT	chr3	60807613	-	TKT	chr3	53276258	-
intron-5UTR	ENST00000341848	ENST00000296289	FHIT	chr3	60807613	-	TKT	chr3	53276258	-

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 FHIT-TKT

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 FHIT-TKT

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
.	.
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: 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.

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 FHIT-TKT

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 FHIT-TKT

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 FHIT-TKT

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 FHIT-TKT

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	FHIT	C0024121	Lung Neoplasms	2	CTD_human
Hgene	FHIT	C0025500	Mesothelioma	2	CTD_human
Hgene	FHIT	C0242379	Malignant neoplasm of lung	2	CTD_human
Hgene	FHIT	C0007097	Carcinoma	1	CTD_human
Hgene	FHIT	C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
Hgene	FHIT	C0013146	Drug abuse	1	CTD_human
Hgene	FHIT	C0013170	Drug habituation	1	CTD_human
Hgene	FHIT	C0013222	Drug Use Disorders	1	CTD_human
Hgene	FHIT	C0023903	Liver neoplasms	1	CTD_human
Hgene	FHIT	C0024623	Malignant neoplasm of stomach	1	CTD_human
Hgene	FHIT	C0029231	Organic Mental Disorders, Substance-Induced	1	CTD_human
Hgene	FHIT	C0033578	Prostatic Neoplasms	1	CTD_human
Hgene	FHIT	C0038356	Stomach Neoplasms	1	CTD_human
Hgene	FHIT	C0038580	Substance Dependence	1	CTD_human
Hgene	FHIT	C0038586	Substance Use Disorders	1	CTD_human
Hgene	FHIT	C0042076	Urologic Neoplasms	1	CTD_human
Hgene	FHIT	C0205696	Anaplastic carcinoma	1	CTD_human
Hgene	FHIT	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
Hgene	FHIT	C0205698	Undifferentiated carcinoma	1	CTD_human
Hgene	FHIT	C0205699	Carcinomatosis	1	CTD_human
Hgene	FHIT	C0236733	Amphetamine-Related Disorders	1	CTD_human
Hgene	FHIT	C0236804	Amphetamine Addiction	1	CTD_human
Hgene	FHIT	C0236807	Amphetamine Abuse	1	CTD_human
Hgene	FHIT	C0236969	Substance-Related Disorders	1	CTD_human
Hgene	FHIT	C0345904	Malignant neoplasm of liver	1	CTD_human
Hgene	FHIT	C0376358	Malignant neoplasm of prostate	1	CTD_human
Hgene	FHIT	C0740858	Substance abuse problem	1	CTD_human
Hgene	FHIT	C0751571	Cancer of Urinary Tract	1	CTD_human
Hgene	FHIT	C1510472	Drug Dependence	1	CTD_human
Hgene	FHIT	C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
Hgene	FHIT	C4316881	Prescription Drug Abuse	1	CTD_human
Tgene	TKT	C0001973	Alcoholic Intoxication, Chronic	2	PSYGENET
Tgene	TKT	C4310751	SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	2	GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	TKT	C0003129	Anoxemia	1	CTD_human
Tgene	TKT	C0003130	Anoxia	1	CTD_human
Tgene	TKT	C0007097	Carcinoma	1	CTD_human
Tgene	TKT	C0024667	Animal Mammary Neoplasms	1	CTD_human
Tgene	TKT	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
Tgene	TKT	C0027626	Neoplasm Invasiveness	1	CTD_human
Tgene	TKT	C0043121	Wernicke Encephalopathy	1	CTD_human
Tgene	TKT	C0205696	Anaplastic carcinoma	1	CTD_human
Tgene	TKT	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
Tgene	TKT	C0205698	Undifferentiated carcinoma	1	CTD_human
Tgene	TKT	C0205699	Carcinomatosis	1	CTD_human
Tgene	TKT	C0242184	Hypoxia	1	CTD_human
Tgene	TKT	C0700292	Hypoxemia	1	CTD_human
Tgene	TKT	C1257925	Mammary Carcinoma, Animal	1	CTD_human