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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:ZBTB7A-MAP2K2 (FusionGDB2 ID:99789)

Fusion Gene Summary for ZBTB7A-MAP2K2

check button Fusion gene summary
Fusion gene informationFusion gene name: ZBTB7A-MAP2K2
Fusion gene ID: 99789
HgeneTgene
Gene symbol

ZBTB7A

MAP2K2

Gene ID

51341

5605

Gene namezinc finger and BTB domain containing 7Amitogen-activated protein kinase kinase 2
SynonymsFBI-1|FBI1|LRF|TIP21|ZBTB7|ZNF857A|pokemonCFC4|MAPKK2|MEK2|MKK2|PRKMK2
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionzinc finger and BTB domain-containing protein 7AHIV-1 1st-binding protein 1HIV-1 inducer of short transcripts binding proteinPOK erythroid myeloid ontogenic factorPOZ and Krueppel erythroid myeloid ontogenic factorTTF-I-interacting peptide 21factor dual specificity mitogen-activated protein kinase kinase 2ERK activator kinase 2MAP kinase kinase 2MAPK/ERK kinase 2mitogen-activated protein kinase kinase 2, p45
Modification date2020032220200327
UniProtAcc.

P36507

Ensembl transtripts involved in fusion geneENST00000322357, ENST00000601588, 
ENST00000262948, ENST00000394867, 
ENST00000599345, 
Fusion gene scores* DoF score9 X 10 X 6=5406 X 7 X 5=210
# samples 129
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/210*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZBTB7A [Title/Abstract] AND MAP2K2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZBTB7A(4066680)-MAP2K2(4110653), # samples:2
Anticipated loss of major functional domain due to fusion event.ZBTB7A-MAP2K2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZBTB7A-MAP2K2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ZBTB7A-MAP2K2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
ZBTB7A-MAP2K2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ZBTB7A-MAP2K2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneZBTB7A

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

24514149

HgeneZBTB7A

GO:0006355

regulation of transcription, DNA-templated

14701838|17595526

HgeneZBTB7A

GO:0045892

negative regulation of transcription, DNA-templated

12004059

HgeneZBTB7A

GO:0051092

positive regulation of NF-kappaB transcription factor activity

15917220

HgeneZBTB7A

GO:2000677

regulation of transcription regulatory region DNA binding

12004059

TgeneMAP2K2

GO:0036289

peptidyl-serine autophosphorylation

8388392

TgeneMAP2K2

GO:0071902

positive regulation of protein serine/threonine kinase activity

8388392


check buttonFusion gene breakpoints across ZBTB7A (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 MAP2K2 (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
ChimerDB4UCECTCGA-EO-A22X-01AZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
ChimerDB4UCECTCGA-EO-A22X-01AZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
ChimerDB4UCECTCGA-SL-A6J9-01AZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
ChimerDB4UCECTCGA-AX-A3FX-01AZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
ChimerDB4UCECTCGA-AX-A3FX-01AZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-
ChimerDB4UCECTCGA-EO-A22X-01AZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-


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Fusion Gene ORF analysis for ZBTB7A-MAP2K2

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-3CDSENST00000322357ENST00000262948ZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
intron-3CDSENST00000322357ENST00000394867ZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
intron-5UTRENST00000322357ENST00000599345ZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
5UTR-3CDSENST00000601588ENST00000262948ZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
5UTR-3CDSENST00000601588ENST00000394867ZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
5UTR-5UTRENST00000601588ENST00000599345ZBTB7Achr19

4065428

-MAP2K2chr19

4110653

-
5UTR-3CDSENST00000322357ENST00000262948ZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
5UTR-3CDSENST00000322357ENST00000394867ZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
5UTR-5UTRENST00000322357ENST00000599345ZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
intron-3CDSENST00000601588ENST00000262948ZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
intron-3CDSENST00000601588ENST00000394867ZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
intron-5UTRENST00000601588ENST00000599345ZBTB7Achr19

4066680

-MAP2K2chr19

4110653

-
5UTR-3CDSENST00000322357ENST00000262948ZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
5UTR-3CDSENST00000322357ENST00000394867ZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
5UTR-intronENST00000322357ENST00000599345ZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
intron-3CDSENST00000601588ENST00000262948ZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
intron-3CDSENST00000601588ENST00000394867ZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
intron-intronENST00000601588ENST00000599345ZBTB7Achr19

4066680

-MAP2K2chr19

4090706

-
Frame-shiftENST00000322357ENST00000262948ZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
Frame-shiftENST00000322357ENST00000394867ZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
5CDS-intronENST00000322357ENST00000599345ZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
Frame-shiftENST00000601588ENST00000262948ZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
Frame-shiftENST00000601588ENST00000394867ZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
5CDS-intronENST00000601588ENST00000599345ZBTB7Achr19

4053969

-MAP2K2chr19

4095447

-
In-frameENST00000322357ENST00000262948ZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-
In-frameENST00000322357ENST00000394867ZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-
5CDS-intronENST00000322357ENST00000599345ZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-
Frame-shiftENST00000601588ENST00000262948ZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-
Frame-shiftENST00000601588ENST00000394867ZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-
5CDS-intronENST00000601588ENST00000599345ZBTB7Achr19

4053969

-MAP2K2chr19

4097341

-

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 ZBTB7A-MAP2K2


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 ZBTB7A-MAP2K2


check button Go to

FGviewer for the breakpoints of chr19:4053969-chr19:4097341

.
- 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
.MAP2K2

P36507

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: Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). {ECO:0000250|UniProtKB:Q63932, ECO:0000269|PubMed:29433126}.

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
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23175_181420.6666666666667585.0Compositional biasNote=Poly-Ala
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23175_211420.6666666666667585.0Compositional biasNote=Ala-rich
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23175_181420.6666666666667585.0Compositional biasNote=Poly-Ala
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23175_211420.6666666666667585.0Compositional biasNote=Ala-rich
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-2334_101420.6666666666667585.0DomainBTB
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-2334_101420.6666666666667585.0DomainBTB
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23382_404420.6666666666667585.0Zinc fingerC2H2-type 1
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23382_404420.6666666666667585.0Zinc fingerC2H2-type 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23560_565420.6666666666667585.0Compositional biasNote=Poly-Gly
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23560_565420.6666666666667585.0Compositional biasNote=Poly-Gly
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23410_432420.6666666666667585.0Zinc fingerC2H2-type 2
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23438_460420.6666666666667585.0Zinc fingerC2H2-type 3
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000322357-23466_490420.6666666666667585.0Zinc fingerC2H2-type 4%3B atypical
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23410_432420.6666666666667585.0Zinc fingerC2H2-type 2
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23438_460420.6666666666667585.0Zinc fingerC2H2-type 3
HgeneZBTB7Achr19:4053969chr19:4097341ENST00000601588-23466_490420.6666666666667585.0Zinc fingerC2H2-type 4%3B atypical
TgeneMAP2K2chr19:4053969chr19:4097341ENST00000262948611266_315306.3333333333333401.0Compositional biasNote=Pro-rich
TgeneMAP2K2chr19:4053969chr19:4097341ENST0000026294861172_369306.3333333333333401.0DomainProtein kinase
TgeneMAP2K2chr19:4053969chr19:4097341ENST0000026294861178_86306.3333333333333401.0Nucleotide bindingATP


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Fusion Gene Sequence for ZBTB7A-MAP2K2


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 ZBTB7A-MAP2K2


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 ZBTB7A-MAP2K2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMAP2K2P36507DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K2P36507DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11967BinimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11967BinimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11967BinimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB11967BinimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K2P36507DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for ZBTB7A-MAP2K2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZBTB7AC0017636Glioblastoma1CTD_human
HgeneZBTB7AC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneZBTB7AC0026998Acute Myeloid Leukemia, M11CTD_human
HgeneZBTB7AC0033578Prostatic Neoplasms1CTD_human
HgeneZBTB7AC0334588Giant Cell Glioblastoma1CTD_human
HgeneZBTB7AC0376358Malignant neoplasm of prostate1CTD_human
HgeneZBTB7AC1621958Glioblastoma Multiforme1CTD_human
HgeneZBTB7AC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneMAP2K2C1275081Cardio-facio-cutaneous syndrome13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneMAP2K2C3809007CARDIOFACIOCUTANEOUS SYNDROME 47GENOMICS_ENGLAND;UNIPROT
TgeneMAP2K2C0028326Noonan Syndrome4CLINGEN;CTD_human
TgeneMAP2K2C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneMAP2K2C0025202melanoma1CGI;CTD_human
TgeneMAP2K2C0041409Turner Syndrome, Male1CTD_human
TgeneMAP2K2C0553586Cafe-au-lait macules with pulmonary stenosis1ORPHANET
TgeneMAP2K2C0587248Costello syndrome (disorder)1CLINGEN;CTD_human
TgeneMAP2K2C1527404Female Pseudo-Turner Syndrome1CTD_human
TgeneMAP2K2C2931482Neurofibromatosis-Noonan syndrome1ORPHANET
TgeneMAP2K2C4551602Noonan Syndrome 11CTD_human