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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:SF3B3-CTCF

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SF3B3-CTCF
FusionPDB ID: 81068
FusionGDB2.0 ID: 81068
HgeneTgene
Gene symbol

SF3B3

CTCF

Gene ID

23450

10664

Gene namesplicing factor 3b subunit 3CCCTC-binding factor
SynonymsRSE1|SAP130|SF3b130|STAF130CFAP108|FAP108|MRD21
Cytomap

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 3B subunit 3SAP 130pre-mRNA splicing factor SF3b, 130 kDa subunitspliceosome-associated protein 130transcriptional repressor CTCF11 zinc finger transcriptional repressor11-zinc finger proteinCCCTC-binding factor (zinc finger protein)CTCFL paralog
Modification date2020031320200313
UniProtAcc.

Q8NI51

Main function of 5'-partner protein: FUNCTION: Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. {ECO:0000250, ECO:0000269|PubMed:12011441, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18765639}.
Ensembl transtripts involved in fusion geneENST idsENST00000302516, ENST00000264010, 
ENST00000401394, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 15 X 9=17559 X 9 X 4=324
# samples 188
** MAII scorelog2(18/1755*10)=-3.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/324*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SF3B3 [Title/Abstract] AND CTCF [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SF3B3 [Title/Abstract] AND CTCF [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SF3B3(70578436)-CTCF(67660458), # samples:2
Anticipated loss of major functional domain due to fusion event.SF3B3-CTCF 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.
SF3B3-CTCF 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.
SF3B3-CTCF 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.
SF3B3-CTCF 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.
SF3B3-CTCF seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
SF3B3-CTCF seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SF3B3-CTCF seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SF3B3-CTCF seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
SF3B3-CTCF seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
SF3B3-CTCF seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
SF3B3-CTCF seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneSF3B3

GO:0000398

mRNA splicing, via spliceosome

28781166|29360106

HgeneSF3B3

GO:0042177

negative regulation of protein catabolic process

23951410

TgeneCTCF

GO:0000122

negative regulation of transcription by RNA polymerase II

8649389

TgeneCTCF

GO:0016584

nucleosome positioning

18654629

TgeneCTCF

GO:0045892

negative regulation of transcription, DNA-templated

8649389|18413740

TgeneCTCF

GO:0045893

positive regulation of transcription, DNA-templated

9407128



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/chr16:70578436/chr16:67660458)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across SF3B3 (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 CTCF (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 Amino Acid Sequences


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)
ENST00000302516SF3B3chr1670578436+ENST00000264010CTCFchr1667662273+351715401092205698
ENST00000302516SF3B3chr1670578436+ENST00000401394CTCFchr1667662273+351715401092205698

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
ENST00000302516ENST00000264010SF3B3chr1670578436+CTCFchr1667662273+0.0007657220.9992343
ENST00000302516ENST00000401394SF3B3chr1670578436+CTCFchr1667662273+0.0007657220.9992343

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for SF3B3-CTCF

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SF3B3chr1670578436CTCFchr16676622731540477PRSSLRVLRHGLEERHMIMHKRTHTG

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Potential FusionNeoAntigen Information of SF3B3-CTCF in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
SF3B3-CTCF_70578436_67662273.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:09VLRHGLEER0.87890.8375615
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:03VLRHGLEER0.87890.8375615
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:11VLRHGLEER0.87890.8375615
SF3B3-CTCFchr1670578436chr16676622731540HLA-B38:02RHGLEERHM0.85320.9582817
SF3B3-CTCFchr1670578436chr16676622731540HLA-A31:02VLRHGLEER0.77610.826615
SF3B3-CTCFchr1670578436chr16676622731540HLA-A31:06VLRHGLEER0.69830.6854615
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:11RVLRHGLEER0.98870.7718515
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:09RVLRHGLEER0.98870.7718515
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:03RVLRHGLEER0.98870.7718515
SF3B3-CTCFchr1670578436chr16676622731540HLA-A31:02RVLRHGLEER0.97690.7388515
SF3B3-CTCFchr1670578436chr16676622731540HLA-A31:06RVLRHGLEER0.96420.643515
SF3B3-CTCFchr1670578436chr16676622731540HLA-A31:01VLRHGLEER0.92110.8179615
SF3B3-CTCFchr1670578436chr16676622731540HLA-A31:01RVLRHGLEER0.98970.7399515
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:01VLRHGLEER0.87890.8375615
SF3B3-CTCFchr1670578436chr16676622731540HLA-B08:12GLEERHMIM0.49740.82921019
SF3B3-CTCFchr1670578436chr16676622731540HLA-A74:01RVLRHGLEER0.98870.7718515

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Potential FusionNeoAntigen Information of SF3B3-CTCF in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
SF3B3-CTCF_70578436_67662273.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0801RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0805RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0805PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0806RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0806PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0808RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0810RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0810PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0811RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0812RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0812PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0816RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0822RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0822PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0826RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0831RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0832RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0832PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-0839RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1192RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1192PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1220RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1321RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1321PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1349RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1355RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1355PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1358RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1358PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1381RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1389RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1422RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1425RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1473RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1473PRSSLRVLRHGLEER015
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1474RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1478RSSLRVLRHGLEERH116
SF3B3-CTCFchr1670578436chr16676622731540DRB1-1478PRSSLRVLRHGLEER015

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Fusion breakpoint peptide structures of SF3B3-CTCF

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
10101VLRHGLEERHMIMHSF3B3CTCFchr1670578436chr16676622731540

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SF3B3-CTCF

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN10101VLRHGLEERHMIMH-7.9962-8.1096
HLA-B14:023BVN10101VLRHGLEERHMIMH-5.70842-6.74372
HLA-B52:013W3910101VLRHGLEERHMIMH-6.83737-6.95077
HLA-B52:013W3910101VLRHGLEERHMIMH-4.4836-5.5189
HLA-A11:014UQ210101VLRHGLEERHMIMH-10.0067-10.1201
HLA-A11:014UQ210101VLRHGLEERHMIMH-9.03915-10.0745
HLA-A24:025HGA10101VLRHGLEERHMIMH-6.56204-6.67544
HLA-A24:025HGA10101VLRHGLEERHMIMH-5.42271-6.45801
HLA-B44:053DX810101VLRHGLEERHMIMH-7.85648-8.89178
HLA-B44:053DX810101VLRHGLEERHMIMH-5.3978-5.5112
HLA-B35:011A1N10101VLRHGLEERHMIMH-6.27422-6.38762
HLA-B35:011A1N10101VLRHGLEERHMIMH-5.27424-6.30954
HLA-A02:016TDR10101VLRHGLEERHMIMH-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of SF3B3-CTCF

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
SF3B3-CTCFchr1670578436chr16676622731019GLEERHMIMGGACTTGAGGAGAGGCACATGATCATG
SF3B3-CTCFchr1670578436chr1667662273515RVLRHGLEERAGAGTCCTAAGACATGGACTTGAGGAGAGG
SF3B3-CTCFchr1670578436chr1667662273615VLRHGLEERGTCCTAAGACATGGACTTGAGGAGAGG
SF3B3-CTCFchr1670578436chr1667662273817RHGLEERHMAGACATGGACTTGAGGAGAGGCACATG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SF3B3-CTCFchr1670578436chr1667662273015PRSSLRVLRHGLEERCCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGAGAGG
SF3B3-CTCFchr1670578436chr1667662273116RSSLRVLRHGLEERHCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGAGAGGCAC

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Information of the samples that have these potential fusion neoantigens of SF3B3-CTCF

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
OVSF3B3-CTCFchr1670578436ENST00000302516chr1667662273ENST00000264010TCGA-24-2289-01A

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Potential target of CAR-T therapy development for SF3B3-CTCF

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to SF3B3-CTCF

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 SF3B3-CTCF

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