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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:KDM4A-CREB3L4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KDM4A-CREB3L4
FusionPDB ID: 41777
FusionGDB2.0 ID: 41777
HgeneTgene
Gene symbol

KDM4A

CREB3L4

Gene ID

9682

148327

Gene namelysine demethylase 4AcAMP responsive element binding protein 3 like 4
SynonymsJHDM3A|JMJD2|JMJD2A|TDRD14AAIBZIP|ATCE1|CREB3|CREB4|JAL|hJAL
Cytomap

1p34.2-p34.1

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 4AjmjC domain-containing histone demethylation protein 3Ajumonji C domain-containing histone demethylase 3Ajumonji domain containing 2jumonji domain containing 2Ajumonji domain-containing protein 2Alysine (K)-specific demcyclic AMP-responsive element-binding protein 3-like protein 4CREB-4androgen-induced basic leucine zipper proteinattaching to CRE-like 1cAMP responsive element binding protein 1cAMP-responsive element-binding protein 3-like protein 4cAMP-responsive
Modification date2020031320200313
UniProtAcc

O75164

Q8TEY5

Ensembl transtripts involved in fusion geneENST idsENST00000372396, ENST00000463151, 
ENST00000468845, ENST00000368600, 
ENST00000368601, ENST00000368603, 
ENST00000271889, ENST00000368607, 
ENST00000405694, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 11 X 10=14305 X 7 X 2=70
# samples 155
** MAII scorelog2(15/1430*10)=-3.25298074116987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/70*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KDM4A [Title/Abstract] AND CREB3L4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KDM4A(44133690)-CREB3L4(153945220), # samples:3
Anticipated loss of major functional domain due to fusion event.KDM4A-CREB3L4 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.
KDM4A-CREB3L4 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.
KDM4A-CREB3L4 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.
KDM4A-CREB3L4 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.
KDM4A-CREB3L4 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KDM4A-CREB3L4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KDM4A-CREB3L4 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KDM4A-CREB3L4 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
HgeneKDM4A

GO:0016577

histone demethylation

16024779

HgeneKDM4A

GO:0045892

negative regulation of transcription, DNA-templated

16024779

HgeneKDM4A

GO:0070544

histone H3-K36 demethylation

21914792

TgeneCREB3L4

GO:0045944

positive regulation of transcription by RNA polymerase II

16236796


check buttonFusion gene breakpoints across KDM4A (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 CREB3L4 (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-BH-A18J-01AKDM4Achr1

44133690

-CREB3L4chr1

153945220

+
ChimerDB4BRCATCGA-BH-A18J-01AKDM4Achr1

44133690

+CREB3L4chr1

153945220

+
ChimerDB4BRCATCGA-BH-A18J-01AKDM4Achr1

44133690

+CREB3L4chr1

153945671

+


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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)
ENST00000372396KDM4Achr144133690+ENST00000405694CREB3L4chr1153945671+203312971341741535
ENST00000372396KDM4Achr144133690+ENST00000368607CREB3L4chr1153945671+204012971341741535
ENST00000372396KDM4Achr144133690+ENST00000271889CREB3L4chr1153945671+203612971341741535

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
ENST00000372396ENST00000405694KDM4Achr144133690+CREB3L4chr1153945671+0.0010320090.998968
ENST00000372396ENST00000368607KDM4Achr144133690+CREB3L4chr1153945671+0.0010180540.9989819
ENST00000372396ENST00000271889KDM4Achr144133690+CREB3L4chr1153945671+0.0010398940.99896014

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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

>41777_41777_1_KDM4A-CREB3L4_KDM4A_chr1_44133690_ENST00000372396_CREB3L4_chr1_153945671_ENST00000271889_length(amino acids)=535AA_BP=387
MASESETLNPSARIMTFYPTMEEFRNFSRYIAYIESQGAHRAGLAKVVPPKEWKPRASYDDIDDLVIPAPIQQLVTGQSGLFTQYNIQKK
AMTVREFRKIANSDKYCTPRYSEFEELERKYWKNLTFNPPIYGADVNGTLYEKHVDEWNIGRLRTILDLVEKESGITIEGVNTPYLYFGM
WKTSFAWHTEDMDLYSINYLHFGEPKSWYSVPPEHGKRLERLAKGFFPGSAQSCEAFLRHKMTLISPLMLKKYGIPFDKVTQEAGEFMIT
FPYGYHAGFNHGFNCAESTNFATRRWIEYGKQAVLCSCRKDMVKISMDVFVRKFQPERYKLWKAGKDNTVIDHTLPTPEAAEFLKESELP
PRAGNEEECPEEDMEGVEDGEEGDLKTRVAACSAQNQELQKKVQELERHNISLVAQLRQLQTLIAQTSNKAAQTSTCVLILLFSLALIIL

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

>41777_41777_2_KDM4A-CREB3L4_KDM4A_chr1_44133690_ENST00000372396_CREB3L4_chr1_153945671_ENST00000368607_length(amino acids)=535AA_BP=387
MASESETLNPSARIMTFYPTMEEFRNFSRYIAYIESQGAHRAGLAKVVPPKEWKPRASYDDIDDLVIPAPIQQLVTGQSGLFTQYNIQKK
AMTVREFRKIANSDKYCTPRYSEFEELERKYWKNLTFNPPIYGADVNGTLYEKHVDEWNIGRLRTILDLVEKESGITIEGVNTPYLYFGM
WKTSFAWHTEDMDLYSINYLHFGEPKSWYSVPPEHGKRLERLAKGFFPGSAQSCEAFLRHKMTLISPLMLKKYGIPFDKVTQEAGEFMIT
FPYGYHAGFNHGFNCAESTNFATRRWIEYGKQAVLCSCRKDMVKISMDVFVRKFQPERYKLWKAGKDNTVIDHTLPTPEAAEFLKESELP
PRAGNEEECPEEDMEGVEDGEEGDLKTRVAACSAQNQELQKKVQELERHNISLVAQLRQLQTLIAQTSNKAAQTSTCVLILLFSLALIIL

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

>41777_41777_3_KDM4A-CREB3L4_KDM4A_chr1_44133690_ENST00000372396_CREB3L4_chr1_153945671_ENST00000405694_length(amino acids)=535AA_BP=387
MASESETLNPSARIMTFYPTMEEFRNFSRYIAYIESQGAHRAGLAKVVPPKEWKPRASYDDIDDLVIPAPIQQLVTGQSGLFTQYNIQKK
AMTVREFRKIANSDKYCTPRYSEFEELERKYWKNLTFNPPIYGADVNGTLYEKHVDEWNIGRLRTILDLVEKESGITIEGVNTPYLYFGM
WKTSFAWHTEDMDLYSINYLHFGEPKSWYSVPPEHGKRLERLAKGFFPGSAQSCEAFLRHKMTLISPLMLKKYGIPFDKVTQEAGEFMIT
FPYGYHAGFNHGFNCAESTNFATRRWIEYGKQAVLCSCRKDMVKISMDVFVRKFQPERYKLWKAGKDNTVIDHTLPTPEAAEFLKESELP
PRAGNEEECPEEDMEGVEDGEEGDLKTRVAACSAQNQELQKKVQELERHNISLVAQLRQLQTLIAQTSNKAAQTSTCVLILLFSLALIIL

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

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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/chr1:44133690/chr1:153945220)
- 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
KDM4A

O75164

CREB3L4

Q8TEY5

FUNCTION: Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code (PubMed:26741168). Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. Participates in transcriptional repression of ASCL2 and E2F-responsive promoters via the recruitment of histone deacetylases and NCOR1, respectively. {ECO:0000269|PubMed:16024779, ECO:0000269|PubMed:16603238, ECO:0000269|PubMed:26741168}.; FUNCTION: [Isoform 2]: Crucial for muscle differentiation, promotes transcriptional activation of the Myog gene by directing the removal of repressive chromatin marks at its promoter. Lacks the N-terminal demethylase domain. {ECO:0000269|PubMed:21694756}.FUNCTION: Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5'-T[GT]ACGT[GA][GT]-3' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity). {ECO:0000250, ECO:0000269|PubMed:16236796}.

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
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922142_308387.66666666666671065.0DomainJmjC
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+92214_56387.66666666666671065.0DomainJmjN
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000271889510259_280247.66666666666666396.0RegionLeucine-zipper
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368600510259_280227.66666666666666376.0RegionLeucine-zipper
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368603510259_280247.66666666666666396.0RegionLeucine-zipper
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368607510259_280247.66666666666666396.0RegionLeucine-zipper
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000271889510317_395247.66666666666666396.0Topological domainLumenal
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368600510317_395227.66666666666666376.0Topological domainLumenal
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368603510317_395247.66666666666666396.0Topological domainLumenal
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368607510317_395247.66666666666666396.0Topological domainLumenal
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000271889510296_316247.66666666666666396.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368600510296_316227.66666666666666376.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368603510296_316247.66666666666666396.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368607510296_316247.66666666666666396.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922897_954387.66666666666671065.0DomainNote=Tudor 1
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922955_1011387.66666666666671065.0DomainNote=Tudor 2
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922709_767387.66666666666671065.0Zinc fingerNote=PHD-type 1
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922772_805387.66666666666671065.0Zinc fingerC2HC pre-PHD-type
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922828_885387.66666666666671065.0Zinc fingerPHD-type 2
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000271889510217_280247.66666666666666396.0DomainbZIP
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368600510217_280227.66666666666666376.0DomainbZIP
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368603510217_280247.66666666666666396.0DomainbZIP
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368607510217_280247.66666666666666396.0DomainbZIP
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000271889510219_248247.66666666666666396.0RegionBasic motif
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368600510219_248227.66666666666666376.0RegionBasic motif
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368603510219_248247.66666666666666396.0RegionBasic motif
TgeneCREB3L4chr1:44133690chr1:153945671ENST00000368607510219_248247.66666666666666396.0RegionBasic motif
TgeneCREB3L4chr1:44133690chr1:153945671ENST000002718895101_295247.66666666666666396.0Topological domainCytoplasmic
TgeneCREB3L4chr1:44133690chr1:153945671ENST000003686005101_295227.66666666666666376.0Topological domainCytoplasmic
TgeneCREB3L4chr1:44133690chr1:153945671ENST000003686035101_295247.66666666666666396.0Topological domainCytoplasmic
TgeneCREB3L4chr1:44133690chr1:153945671ENST000003686075101_295247.66666666666666396.0Topological domainCytoplasmic


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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
KDM4A
CREB3L4


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
HgeneKDM4Achr1:44133690chr1:153945671ENST00000372396+922597_638387.66666666666671065.0NCOR1


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Related Drugs to KDM4A-CREB3L4


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 KDM4A-CREB3L4


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