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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:SLC24A3-RIN2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SLC24A3-RIN2
FusionPDB ID: 82526
FusionGDB2.0 ID: 82526
HgeneTgene
Gene symbol

SLC24A3

RIN2

Gene ID

57419

54453

Gene namesolute carrier family 24 member 3Ras and Rab interactor 2
SynonymsNCKX3MACS|RASSF4
Cytomap

20p11.23

20p11.23

Type of geneprotein-codingprotein-coding
Descriptionsodium/potassium/calcium exchanger 3Na(+)/K(+)/Ca(2+)-exchange protein 3sodium calcium exchangersolute carrier family 24 (sodium/potassium/calcium exchanger), member 3ras and Rab interactor 2RAB5 interacting protein 2RAS association (RalGDS/AF-6) domain containing protein JC265RAS association domain family 4RAS inhibitor JC265RAS interaction/interference protein 2
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000328041, ENST00000484638, 
ENST00000255006, ENST00000440354, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 6=37813 X 13 X 5=845
# samples 1114
** MAII scorelog2(11/378*10)=-1.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/845*10)=-2.59352451422458
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SLC24A3 [Title/Abstract] AND RIN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RIN2(19804033)-SLC24A3(19598645), # samples:1
SLC24A3(19261731)-RIN2(19970650), # samples:2
Anticipated loss of major functional domain due to fusion event.SLC24A3-RIN2 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.
SLC24A3-RIN2 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.
SLC24A3-RIN2 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.
SLC24A3-RIN2 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.
* 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

check buttonFusion gene breakpoints across SLC24A3 (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 RIN2 (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
ChimerDB4ESCATCGA-LN-A49O-01ASLC24A3chr20

19261731

+RIN2chr20

19970650

+
ChimerDB4ESCATCGA-LN-A49OSLC24A3chr20

19261731

+RIN2chr20

19970649

+
ChimerDB4ESCATCGA-LN-A49OSLC24A3chr20

19261731

+RIN2chr20

19970650

+


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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)
ENST00000328041SLC24A3chr2019261731+ENST00000255006RIN2chr2019970650+2915468981393431
ENST00000328041SLC24A3chr2019261731+ENST00000440354RIN2chr2019970650+1806468981393431
ENST00000328041SLC24A3chr2019261731+ENST00000255006RIN2chr2019970649+2915468981393431
ENST00000328041SLC24A3chr2019261731+ENST00000440354RIN2chr2019970649+1806468981393431

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
ENST00000328041ENST00000255006SLC24A3chr2019261731+RIN2chr2019970650+0.0012787670.9987212
ENST00000328041ENST00000440354SLC24A3chr2019261731+RIN2chr2019970650+0.0022510840.9977489
ENST00000328041ENST00000255006SLC24A3chr2019261731+RIN2chr2019970649+0.0012787670.9987212
ENST00000328041ENST00000440354SLC24A3chr2019261731+RIN2chr2019970649+0.0022510840.9977489

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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

>82526_82526_1_SLC24A3-RIN2_SLC24A3_chr20_19261731_ENST00000328041_RIN2_chr20_19970649_ENST00000255006_length(amino acids)=431AA_BP=1
MLRAGLPPAAVPAAAARDRSGRRPPRPPPGRPRMRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGE
DRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPDVVLEKAMHKCILKPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAP
TPDFVDVEKIKVKFMTMQKMYSPEKKVMLLLRVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEG
GYYLTSAYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAE

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

>82526_82526_2_SLC24A3-RIN2_SLC24A3_chr20_19261731_ENST00000328041_RIN2_chr20_19970649_ENST00000440354_length(amino acids)=431AA_BP=1
MLRAGLPPAAVPAAAARDRSGRRPPRPPPGRPRMRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGE
DRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPDVVLEKAMHKCILKPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAP
TPDFVDVEKIKVKFMTMQKMYSPEKKVMLLLRVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEG
GYYLTSAYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAE

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

>82526_82526_3_SLC24A3-RIN2_SLC24A3_chr20_19261731_ENST00000328041_RIN2_chr20_19970650_ENST00000255006_length(amino acids)=431AA_BP=1
MLRAGLPPAAVPAAAARDRSGRRPPRPPPGRPRMRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGE
DRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPDVVLEKAMHKCILKPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAP
TPDFVDVEKIKVKFMTMQKMYSPEKKVMLLLRVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEG
GYYLTSAYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAE

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

>82526_82526_4_SLC24A3-RIN2_SLC24A3_chr20_19261731_ENST00000328041_RIN2_chr20_19970650_ENST00000440354_length(amino acids)=431AA_BP=1
MLRAGLPPAAVPAAAARDRSGRRPPRPPPGRPRMRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGE
DRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPDVVLEKAMHKCILKPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAP
TPDFVDVEKIKVKFMTMQKMYSPEKKVMLLLRVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEG
GYYLTSAYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAE

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

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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/chr20:19804033/chr20:19598645)
- 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
..
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: 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
TgeneRIN2chr20:19261731chr20:19970649ENST00000255006712787_878636.3333333333334945.0DomainRas-associating
TgeneRIN2chr20:19261731chr20:19970650ENST00000255006712787_878636.3333333333334945.0DomainRas-associating

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217422_42890.33333333333333645.0Compositional biasNote=Poly-Glu
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217422_42890.33333333333333645.0Compositional biasNote=Poly-Glu
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217149_18990.33333333333333645.0RepeatNote=Alpha-1
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217518_54990.33333333333333645.0RepeatNote=Alpha-2
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217149_18990.33333333333333645.0RepeatNote=Alpha-1
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217518_54990.33333333333333645.0RepeatNote=Alpha-2
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217129_15390.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217175_18290.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217204_21090.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217232_23490.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217256_48490.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+21745_10790.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217506_51090.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217532_54990.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217571_58090.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217602_61590.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217637_64490.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217129_15390.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217175_18290.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217204_21090.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217232_23490.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217256_48490.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+21745_10790.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217506_51090.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217532_54990.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217571_58090.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217602_61590.33333333333333645.0Topological domainCytoplasmic
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217637_64490.33333333333333645.0Topological domainExtracellular
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217108_12890.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217154_17490.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217183_20390.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217211_23190.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217235_25590.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217485_50590.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217511_53190.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217550_57090.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217581_60190.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970649ENST00000328041+217616_63690.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217108_12890.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217154_17490.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217183_20390.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217211_23190.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217235_25590.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217485_50590.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217511_53190.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217550_57090.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217581_60190.33333333333333645.0TransmembraneHelical
HgeneSLC24A3chr20:19261731chr20:19970650ENST00000328041+217616_63690.33333333333333645.0TransmembraneHelical
TgeneRIN2chr20:19261731chr20:19970649ENST00000255006712307_314636.3333333333334945.0Compositional biasNote=Poly-Pro
TgeneRIN2chr20:19261731chr20:19970650ENST00000255006712307_314636.3333333333334945.0Compositional biasNote=Poly-Pro
TgeneRIN2chr20:19261731chr20:19970649ENST00000255006712618_757636.3333333333334945.0DomainVPS9
TgeneRIN2chr20:19261731chr20:19970649ENST0000025500671297_190636.3333333333334945.0DomainSH2
TgeneRIN2chr20:19261731chr20:19970650ENST00000255006712618_757636.3333333333334945.0DomainVPS9
TgeneRIN2chr20:19261731chr20:19970650ENST0000025500671297_190636.3333333333334945.0DomainSH2


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>904_SLC24A3_19261731_RIN2_19970650_904_SLC24A3_19261731_RIN2_19970650_ranked_0.pdbSLC24A31926173119261731ENST00000440354RIN2chr2019970650+
MLRAGLPPAAVPAAAARDRSGRRPPRPPPGRPRMRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGE
DRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPDVVLEKAMHKCILKPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAP
TPDFVDVEKIKVKFMTMQKMYSPEKKVMLLLRVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEYMMELLDPSLLHGEG
GYYLTSAYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRTIPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAE
431


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
SLC24A3_pLDDT.png
all structure
all structure
RIN2_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
SLC24A3
RIN2


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 SLC24A3-RIN2


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 SLC24A3-RIN2


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