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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:ZNF398-TPK1 (FusionGDB2 ID:101303)

Fusion Gene Summary for ZNF398-TPK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF398-TPK1
Fusion gene ID: 101303
HgeneTgene
Gene symbol

ZNF398

TPK1

Gene ID

57541

27010

Gene namezinc finger protein 398thiamin pyrophosphokinase 1
SynonymsP51|P71|ZER6HTPK1|PP20|THMD5
Cytomap

7q36.1

7q35

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 398zinc finger DNA binding protein ZER6zinc finger DNA binding protein p52/p71zinc finger-estrogen receptor interaction, clone 6thiamin pyrophosphokinase 1placental protein 20thiamine diphosphokinasethiamine kinase
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000426851, ENST00000485111, 
ENST00000420008, ENST00000475153, 
ENST00000483892, ENST00000491174, 
ENST00000540950, ENST00000335901, 
ENST00000360057, ENST00000538212, 
ENST00000549981, ENST00000378099, 
ENST00000547966, 
Fusion gene scores* DoF score6 X 6 X 4=1445 X 6 X 2=60
# samples 65
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF398 [Title/Abstract] AND TPK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF398(148844858)-TPK1(144532711), # samples:1
ZNF398(148844858)-TPK1(144463044), # samples:1
Anticipated loss of major functional domain due to fusion event.ZNF398-TPK1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZNF398-TPK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ZNF398-TPK1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ZNF398-TPK1 seems lost the major protein functional domain in Tgene 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 ZNF398 (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 TPK1 (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
ChimerDB4SARCTCGA-X6-A7WC-01AZNF398chr7

148844858

+TPK1chr7

144532711

-
ChimerDB4SARCTCGA-X6-A7WC-01AZNF398chr7

148844858

-TPK1chr7

144463044

-


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Fusion Gene ORF analysis for ZNF398-TPK1

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
intron-5UTRENST00000426851ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000426851ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000426851ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000426851ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000426851ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000485111ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000485111ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000485111ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000485111ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000485111ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
5UTR-5UTRENST00000420008ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
5UTR-intronENST00000420008ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
5UTR-intronENST00000420008ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
5UTR-5UTRENST00000420008ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
5UTR-intronENST00000420008ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
5CDS-5UTRENST00000475153ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
5CDS-intronENST00000475153ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
5CDS-intronENST00000475153ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
5CDS-5UTRENST00000475153ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
5CDS-intronENST00000475153ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000483892ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000483892ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000483892ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000483892ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000483892ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000491174ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000491174ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000491174ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000491174ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000491174ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000540950ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000540950ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000540950ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000540950ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000540950ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000335901ENST00000360057ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000335901ENST00000538212ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000335901ENST00000549981ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-5UTRENST00000335901ENST00000378099ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-intronENST00000335901ENST00000547966ZNF398chr7

148844858

+TPK1chr7

144532711

-
intron-3CDSENST00000426851ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000426851ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000426851ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000426851ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000426851ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-3CDSENST00000485111ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000485111ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000485111ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000485111ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000485111ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
5UTR-3CDSENST00000420008ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
5UTR-intronENST00000420008ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
5UTR-intronENST00000420008ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
5UTR-intronENST00000420008ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
5UTR-intronENST00000420008ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
Frame-shiftENST00000475153ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
5CDS-intronENST00000475153ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
5CDS-intronENST00000475153ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
5CDS-intronENST00000475153ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
5CDS-intronENST00000475153ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-3CDSENST00000483892ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000483892ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000483892ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000483892ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000483892ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-3CDSENST00000491174ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000491174ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000491174ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000491174ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000491174ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-3CDSENST00000540950ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000540950ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000540950ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000540950ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000540950ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-3CDSENST00000335901ENST00000360057ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000335901ENST00000538212ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000335901ENST00000549981ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000335901ENST00000378099ZNF398chr7

148844858

-TPK1chr7

144463044

-
intron-intronENST00000335901ENST00000547966ZNF398chr7

148844858

-TPK1chr7

144463044

-

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 ZNF398-TPK1


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 ZNF398-TPK1


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
..
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.

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 ZNF398-TPK1


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 ZNF398-TPK1


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 ZNF398-TPK1


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 ZNF398-TPK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTPK1C3280866THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTPK1C0013421Dystonia1GENOMICS_ENGLAND