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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:TFAP2A-MAK

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TFAP2A-MAK
FusionPDB ID: 90258
FusionGDB2.0 ID: 90258
HgeneTgene
Gene symbol

TFAP2A

MAK

Gene ID

7020

57538

Gene nametranscription factor AP-2 alphaalpha kinase 3
SynonymsAP-2|AP-2alpha|AP2TF|BOFS|TFAP2CMH27|MAK|MIDORI
Cytomap

6p24.3

15q25.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor AP-2-alphaAP-2 transcription factoractivating enhancer-binding protein 2-alphaactivator protein 2transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)alpha-protein kinase 3muscle alpha-kinasemuscle alpha-protein kinasemyocyte induction differentiation originator
Modification date2020032820200313
UniProtAcc.

Q9BXY0

Ensembl transtripts involved in fusion geneENST idsENST00000319516, ENST00000379604, 
ENST00000379608, ENST00000379613, 
ENST00000482890, ENST00000497266, 
ENST00000538030, ENST00000536370, 
ENST00000313243, ENST00000354489, 
ENST00000474039, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 3=484 X 4 X 4=64
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: TFAP2A [Title/Abstract] AND MAK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TFAP2A(10404741)-MAK(10764839), # samples:3
Anticipated loss of major functional domain due to fusion event.TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
TFAP2A-MAK seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
TFAP2A-MAK seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TFAP2A-MAK seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneTFAP2A

GO:0000122

negative regulation of transcription by RNA polymerase II

8321221|9520389|20066163

HgeneTFAP2A

GO:0008285

negative regulation of cell proliferation

20607706

HgeneTFAP2A

GO:0030501

positive regulation of bone mineralization

19578371

HgeneTFAP2A

GO:0043066

negative regulation of apoptotic process

20066163

HgeneTFAP2A

GO:0043525

positive regulation of neuron apoptotic process

20607706

HgeneTFAP2A

GO:0045595

regulation of cell differentiation

20607706

HgeneTFAP2A

GO:0045892

negative regulation of transcription, DNA-templated

20607706

HgeneTFAP2A

GO:0045893

positive regulation of transcription, DNA-templated

12586840

HgeneTFAP2A

GO:0045944

positive regulation of transcription by RNA polymerase II

7555706|7559606|11278550|20808827

HgeneTFAP2A

GO:0070172

positive regulation of tooth mineralization

19578371

HgeneTFAP2A

GO:0071281

cellular response to iron ion

20808827

HgeneTFAP2A

GO:2000378

negative regulation of reactive oxygen species metabolic process

20066163


check buttonFusion gene breakpoints across TFAP2A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MAK (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BRCATCGA-AN-A0AR-01ATFAP2Achr6

10404741

-MAKchr6

10764839

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000379613TFAP2Achr610404741-ENST00000313243MAKchr610764839-29111027981081327
ENST00000379613TFAP2Achr610404741-ENST00000474039MAKchr610764839-29111027981081327
ENST00000379604TFAP2Achr610404741-ENST00000313243MAKchr610764839-29001016871070327
ENST00000379604TFAP2Achr610404741-ENST00000474039MAKchr610764839-29001016871070327
ENST00000319516TFAP2Achr610404741-ENST00000313243MAKchr610764839-2824940101994297
ENST00000319516TFAP2Achr610404741-ENST00000474039MAKchr610764839-2824940101994297
ENST00000379608TFAP2Achr610404741-ENST00000313243MAKchr610764839-340815247781578266
ENST00000379608TFAP2Achr610404741-ENST00000474039MAKchr610764839-340815247781578266
ENST00000482890TFAP2Achr610404741-ENST00000313243MAKchr610764839-300111172421171309
ENST00000482890TFAP2Achr610404741-ENST00000474039MAKchr610764839-300111172421171309

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
ENST00000379613ENST00000313243TFAP2Achr610404741-MAKchr610764839-0.0091775320.99082243
ENST00000379613ENST00000474039TFAP2Achr610404741-MAKchr610764839-0.0091775320.99082243
ENST00000379604ENST00000313243TFAP2Achr610404741-MAKchr610764839-0.009118060.9908819
ENST00000379604ENST00000474039TFAP2Achr610404741-MAKchr610764839-0.009118060.9908819
ENST00000319516ENST00000313243TFAP2Achr610404741-MAKchr610764839-0.019213440.9807866
ENST00000319516ENST00000474039TFAP2Achr610404741-MAKchr610764839-0.019213440.9807866
ENST00000379608ENST00000313243TFAP2Achr610404741-MAKchr610764839-0.0235546340.9764454
ENST00000379608ENST00000474039TFAP2Achr610404741-MAKchr610764839-0.0235546340.9764454
ENST00000482890ENST00000313243TFAP2Achr610404741-MAKchr610764839-0.0053496060.9946504
ENST00000482890ENST00000474039TFAP2Achr610404741-MAKchr610764839-0.0053496060.9946504

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>90258_90258_1_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000319516_MAK_chr6_10764839_ENST00000313243_length(amino acids)=297AA_BP=279
MPKRFQGAGPTEPSSPCPAGTSRQERRAAMSILAKMGDWQDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPI
YPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHA
IEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLN

--------------------------------------------------------------

>90258_90258_2_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000319516_MAK_chr6_10764839_ENST00000474039_length(amino acids)=297AA_BP=279
MPKRFQGAGPTEPSSPCPAGTSRQERRAAMSILAKMGDWQDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPI
YPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHA
IEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLN

--------------------------------------------------------------

>90258_90258_3_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000379604_MAK_chr6_10764839_ENST00000313243_length(amino acids)=327AA_BP=309
MPSSSPSSFSSSTSSPSSSSSCAHRRQPALCAHPESSSTWVRDREGHIRSRRSMKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVG
QSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRR
DYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVP

--------------------------------------------------------------

>90258_90258_4_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000379604_MAK_chr6_10764839_ENST00000474039_length(amino acids)=327AA_BP=309
MPSSSPSSFSSSTSSPSSSSSCAHRRQPALCAHPESSSTWVRDREGHIRSRRSMKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVG
QSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRR
DYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVP

--------------------------------------------------------------

>90258_90258_5_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000379608_MAK_chr6_10764839_ENST00000313243_length(amino acids)=266AA_BP=248
MLVHSFSAMDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGW
PGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSN

--------------------------------------------------------------

>90258_90258_6_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000379608_MAK_chr6_10764839_ENST00000474039_length(amino acids)=266AA_BP=248
MLVHSFSAMDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGW
PGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSN

--------------------------------------------------------------

>90258_90258_7_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000379613_MAK_chr6_10764839_ENST00000313243_length(amino acids)=327AA_BP=309
MPSSSPSSFSSSTSSPSSSSSCAHRRQPALCAHPESSSTWVRDREGHIRSRRSMKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVG
QSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRR
DYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVP

--------------------------------------------------------------

>90258_90258_8_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000379613_MAK_chr6_10764839_ENST00000474039_length(amino acids)=327AA_BP=309
MPSSSPSSFSSSTSSPSSSSSCAHRRQPALCAHPESSSTWVRDREGHIRSRRSMKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVG
QSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRR
DYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVP

--------------------------------------------------------------

>90258_90258_9_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000482890_MAK_chr6_10764839_ENST00000313243_length(amino acids)=309AA_BP=291
MELSSNLFRPALCAHPESSSTWVRDREGHIRSRRSMKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADF
QPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSG
LGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAE

--------------------------------------------------------------

>90258_90258_10_TFAP2A-MAK_TFAP2A_chr6_10404741_ENST00000482890_MAK_chr6_10764839_ENST00000474039_length(amino acids)=309AA_BP=291
MELSSNLFRPALCAHPESSSTWVRDREGHIRSRRSMKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADF
QPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSG
LGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAE

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:10404741/chr6:10764839)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MAK

Q9BXY0

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000319516-4729_117250.66666666666666434.0Compositional biasNote=Gln/Pro-rich (transactivation domain)
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000379604-4729_117254.66666666666666438.0Compositional biasNote=Gln/Pro-rich (transactivation domain)
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000379608-4729_117248.66666666666666432.0Compositional biasNote=Gln/Pro-rich (transactivation domain)
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000482890-5829_117254.66666666666666438.0Compositional biasNote=Gln/Pro-rich (transactivation domain)
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000319516-4757_62250.66666666666666434.0MotifNote=PPxY motif
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000379604-4757_62254.66666666666666438.0MotifNote=PPxY motif
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000379608-4757_62248.66666666666666432.0MotifNote=PPxY motif
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000482890-5857_62254.66666666666666438.0MotifNote=PPxY motif

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000319516-47280_410250.66666666666666434.0RegionNote=H-S-H (helix-span-helix)%2C dimerization
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000379604-47280_410254.66666666666666438.0RegionNote=H-S-H (helix-span-helix)%2C dimerization
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000379608-47280_410248.66666666666666432.0RegionNote=H-S-H (helix-span-helix)%2C dimerization
HgeneTFAP2Achr6:10404741chr6:10764839ENST00000482890-58280_410254.66666666666666438.0RegionNote=H-S-H (helix-span-helix)%2C dimerization
TgeneMAKchr6:10404741chr6:10764839ENST000003132431214309_368572.3333333333334624.0Compositional biasNote=Glu/Pro-rich
TgeneMAKchr6:10404741chr6:10764839ENST000003544891113309_368572.3333333333334624.0Compositional biasNote=Glu/Pro-rich
TgeneMAKchr6:10404741chr6:10764839ENST000004740391214309_368572.3333333333334624.0Compositional biasNote=Glu/Pro-rich
TgeneMAKchr6:10404741chr6:10764839ENST0000031324312144_284572.3333333333334624.0DomainProtein kinase
TgeneMAKchr6:10404741chr6:10764839ENST0000035448911134_284572.3333333333334624.0DomainProtein kinase
TgeneMAKchr6:10404741chr6:10764839ENST0000047403912144_284572.3333333333334624.0DomainProtein kinase
TgeneMAKchr6:10404741chr6:10764839ENST00000313243121410_18572.3333333333334624.0Nucleotide bindingATP
TgeneMAKchr6:10404741chr6:10764839ENST00000354489111310_18572.3333333333334624.0Nucleotide bindingATP
TgeneMAKchr6:10404741chr6:10764839ENST00000474039121410_18572.3333333333334624.0Nucleotide bindingATP


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
TFAP2A
MAK


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to TFAP2A-MAK


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to TFAP2A-MAK


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource