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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:SOX5-IFLTD1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SOX5-IFLTD1
FusionPDB ID: 85328
FusionGDB2.0 ID: 85328
HgeneTgene
Gene symbol

SOX5

IFLTD1

Gene ID

6660

160492

Gene nameSRY-box transcription factor 5lamin tail domain containing 1
SynonymsL-SOX5|L-SOX5B|L-SOX5F|LAMSHFIFLTD1|LMNARS1|PAS1C1
Cytomap

12p12.1

12p12.1

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor SOX-5SRY (sex determining region Y)-box 5SRY-box 5lamin tail domain-containing protein 1intermediate filament tail domain containing 1intermediate filament tail domain-containing protein 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000309359, ENST00000381381, 
ENST00000451604, ENST00000537393, 
ENST00000541536, ENST00000545921, 
ENST00000546136, ENST00000396007, 
ENST00000441133, ENST00000536850, 
ENST00000541847, 
ENST00000458174, 
ENST00000539744, ENST00000413632, 
ENST00000445693, ENST00000282881, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 15 X 10=28508 X 5 X 5=200
# samples 198
** MAII scorelog2(19/2850*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/200*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SOX5 [Title/Abstract] AND IFLTD1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SOX5 [Title/Abstract] AND IFLTD1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SOX5(23793746)-IFLTD1(25702480), # samples:1
Anticipated loss of major functional domain due to fusion event.SOX5-IFLTD1 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.
SOX5-IFLTD1 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.
SOX5-IFLTD1 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.
SOX5-IFLTD1 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.
SOX5-IFLTD1 seems lost the major protein functional domain in Hgene 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
HgeneSOX5

GO:0032332

positive regulation of chondrocyte differentiation

21401405

HgeneSOX5

GO:0061036

positive regulation of cartilage development

21401405

HgeneSOX5

GO:0071560

cellular response to transforming growth factor beta stimulus

21401405

HgeneSOX5

GO:2000741

positive regulation of mesenchymal stem cell differentiation

21401405



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/chr12:23793746/chr12:25702480)
- 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 SOX5 (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 IFLTD1 (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)
ENST00000546136SOX5chr1223793746-ENST00000282881IFLTD1chr1225702480-252398131109368
ENST00000451604SOX5chr1223793746-ENST00000282881IFLTD1chr1225702480-26611119481247399
ENST00000537393SOX5chr1223793746-ENST00000282881IFLTD1chr1225702480-250095810072098363
ENST00000541536SOX5chr1223793746-ENST00000282881IFLTD1chr1225702480-252498241110368
ENST00000545921SOX5chr1223793746-ENST00000282881IFLTD1chr1225702480-268511431561271371

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
ENST00000546136ENST00000282881SOX5chr1223793746-IFLTD1chr1225702480-0.0069914930.9930085
ENST00000451604ENST00000282881SOX5chr1223793746-IFLTD1chr1225702480-0.0112549410.98874503
ENST00000537393ENST00000282881SOX5chr1223793746-IFLTD1chr1225702480-0.011581980.98841804
ENST00000541536ENST00000282881SOX5chr1223793746-IFLTD1chr1225702480-0.0070116220.9929884
ENST00000545921ENST00000282881SOX5chr1223793746-IFLTD1chr1225702480-0.0111162470.98888373

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 SOX5-IFLTD1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SOX5chr1223793746IFLTD1chr12257024801119351TTMAAAAAATPGLGPLQLQKRRQTWS
SOX5chr1223793746IFLTD1chr12257024801143323TTMAAAAAATPGLGPLQLQKRRQTWS
SOX5chr1223793746IFLTD1chr1225702480981320TTMAAAAAATPGLGPLQLQKRRQTWS
SOX5chr1223793746IFLTD1chr1225702480982320TTMAAAAAATPGLGPLQLQKRRQTWS

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Potential FusionNeoAntigen Information of SOX5-IFLTD1 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.
SOX5-IFLTD1_23793746_25702480.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)
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:05TPGLGPLQL0.99630.5004918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:10TPGLGPLQL0.99610.5257918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:08TPGLGPLQL0.92410.7913918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:03TPGLGPLQL0.91880.8472918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:01TPGLGPLQL0.90530.8304918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:05TPGLGPLQL0.80570.6251918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:04TPGLGPLQL0.75970.9512918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:02TPGLGPLQL0.75970.9512918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B51:02TPGLGPLQL0.74280.7986918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B53:01TPGLGPLQL0.73790.6493918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B81:01TPGLGPLQL0.25330.7264918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B82:01TPGLGPLQL0.06810.5964918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:05ATPGLGPLQL0.5780.5663818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:02ATPGLGPLQL0.56180.5425818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:17ATPGLGPL0.99120.9726816
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:19AATPGLGPL0.99930.9952716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:08AATPGLGPL0.99910.9551716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:07AATPGLGPL0.99890.9911716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C08:13AATPGLGPL0.97190.9836716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C08:04AATPGLGPL0.97190.9836716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:12TPGLGPLQL0.93020.5534918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B56:04TPGLGPLQL0.82890.8025918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:12TPGLGPLQL0.75970.9512918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B39:10TPGLGPLQL0.51490.9682918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B42:02TPGLGPLQL0.34050.8393918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B51:08TPGLGPLQL0.31060.718918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B42:01TPGLGPLQL0.29480.834918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:17ATPGLGPLQL0.98620.9678818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:30ATPGLGPLQL0.97130.9643818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:12ATPGLGPLQL0.68290.6135818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:02ATPGLGPL0.99170.972816
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:03ATPGLGPL0.98720.9693816
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:03AATPGLGPL0.99940.9936716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:04AATPGLGPL0.99940.9936716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:05AATPGLGPL0.99830.9497716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:17AATPGLGPL0.9980.9745716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C03:06AATPGLGPL0.98440.9933716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:13AATPGLGPL0.98030.8989716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:23TPGLGPLQL0.90870.8661918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:77TPGLGPLQL0.90530.8304918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:13AATPGLGPL0.8860.9614716
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:13TPGLGPLQL0.8770.8509918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B51:29TPGLGPLQL0.8490.5997918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B56:02TPGLGPLQL0.82890.8025918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:22TPGLGPLQL0.82660.733918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B59:01TPGLGPLQL0.82590.6862918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:17TPGLGPLQL0.80620.7315918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:30TPGLGPLQL0.80620.7315918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B35:09TPGLGPLQL0.75970.9512918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B55:04TPGLGPLQL0.72460.7598918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B51:05TPGLGPLQL0.65080.5963918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B51:06TPGLGPLQL0.64620.797918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B67:01TPGLGPLQL0.52410.9569918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B53:02TPGLGPLQL0.52340.7125918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B08:12TPGLGPLQL0.26250.8908918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B82:02TPGLGPLQL0.06810.5964918
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:03ATPGLGPLQL0.99290.9727818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C01:02ATPGLGPLQL0.99010.9665818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-B07:22ATPGLGPLQL0.56180.5425818
SOX5-IFLTD1chr1223793746chr12257024801119HLA-C17:01AATPGLGPLQL0.9830.9741718

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Potential FusionNeoAntigen Information of SOX5-IFLTD1 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.

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)

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Fusion breakpoint peptide structures of SOX5-IFLTD1

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
19AAATPGLGPLQLQKSOX5IFLTD1chr1223793746chr12257024801119

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SOX5-IFLTD1

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-B14:023BVN19AAATPGLGPLQLQK-7.9962-8.1096
HLA-B14:023BVN19AAATPGLGPLQLQK-5.70842-6.74372
HLA-B52:013W3919AAATPGLGPLQLQK-6.83737-6.95077
HLA-B52:013W3919AAATPGLGPLQLQK-4.4836-5.5189
HLA-A11:014UQ219AAATPGLGPLQLQK-10.0067-10.1201
HLA-A11:014UQ219AAATPGLGPLQLQK-9.03915-10.0745
HLA-A24:025HGA19AAATPGLGPLQLQK-6.56204-6.67544
HLA-A24:025HGA19AAATPGLGPLQLQK-5.42271-6.45801
HLA-B44:053DX819AAATPGLGPLQLQK-7.85648-8.89178
HLA-B44:053DX819AAATPGLGPLQLQK-5.3978-5.5112
HLA-A02:016TDR19AAATPGLGPLQLQK-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of SOX5-IFLTD1

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
SOX5-IFLTD1chr1223793746chr1225702480716AATPGLGPLGGCCCACTCCAACTGCAGAAGAGAAGA
SOX5-IFLTD1chr1223793746chr1225702480718AATPGLGPLQLGGCCCACTCCAACTGCAGAAGAGAAGACAAACT
SOX5-IFLTD1chr1223793746chr1225702480816ATPGLGPLCCACTCCAACTGCAGAAGAGAAGA
SOX5-IFLTD1chr1223793746chr1225702480818ATPGLGPLQLCCACTCCAACTGCAGAAGAGAAGACAAACT
SOX5-IFLTD1chr1223793746chr1225702480918TPGLGPLQLCTCCAACTGCAGAAGAGAAGACAAACT

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

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Information of the samples that have these potential fusion neoantigens of SOX5-IFLTD1

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
UCECSOX5-IFLTD1chr1223793746ENST00000451604chr1225702480ENST00000282881TCGA-A5-A1OH-01A

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Potential target of CAR-T therapy development for SOX5-IFLTD1

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 SOX5-IFLTD1

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 SOX5-IFLTD1

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