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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:C7orf10-POU6F2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: C7orf10-POU6F2
FusionPDB ID: 12004
FusionGDB2.0 ID: 12004
HgeneTgene
Gene symbol

C7orf10

POU6F2

Gene ID

79783

11281

Gene namesuccinyl-CoA:glutarate-CoA transferasePOU class 6 homeobox 2
SynonymsC7orf10|DERP13|GA3|ORF19RPF-1|WT5|WTSL
Cytomap

7p14.1

7p14.1

Type of geneprotein-codingprotein-coding
Descriptionsuccinate--hydroxymethylglutarate CoA-transferaseRussel-Silver syndrome candidatedermal papilla-derived protein 13succinylCoA:glutarate-CoA transferasePOU domain, class 6, transcription factor 2Wilms tumor suppressor locusretina-derived POU-domain factor-1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000309930, ENST00000335693, 
ENST00000401647, ENST00000464028, 
ENST00000540834, 
ENST00000464276, 
ENST00000517348, ENST00000559001, 
ENST00000403058, ENST00000518318, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 3=187 X 9 X 9=567
# samples 312
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/567*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: C7orf10 [Title/Abstract] AND POU6F2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: C7orf10 [Title/Abstract] AND POU6F2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)C7orf10(40535985)-POU6F2(39446199), # samples:1
Anticipated loss of major functional domain due to fusion event.C7orf10-POU6F2 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.
C7orf10-POU6F2 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.
C7orf10-POU6F2 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.
C7orf10-POU6F2 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 button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:40535985/chr7:39446199)
- 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 C7orf10 (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 POU6F2 (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)
ENST00000309930C7orf10chr740535985-ENST00000403058POU6F2chr739446199+24301134242324766
ENST00000309930C7orf10chr740535985-ENST00000518318POU6F2chr739446199+61321134242216730
ENST00000401647C7orf10chr740535985-ENST00000403058POU6F2chr739446199+2285989232179718
ENST00000401647C7orf10chr740535985-ENST00000518318POU6F2chr739446199+5987989232071682
ENST00000335693C7orf10chr740535985-ENST00000403058POU6F2chr739446199+24291133232323766
ENST00000335693C7orf10chr740535985-ENST00000518318POU6F2chr739446199+61311133232215730

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
ENST00000309930ENST00000403058C7orf10chr740535985-POU6F2chr739446199+0.0031849730.996815
ENST00000309930ENST00000518318C7orf10chr740535985-POU6F2chr739446199+0.0002031660.9997968
ENST00000401647ENST00000403058C7orf10chr740535985-POU6F2chr739446199+0.0058258940.99417406
ENST00000401647ENST00000518318C7orf10chr740535985-POU6F2chr739446199+0.000312730.9996873
ENST00000335693ENST00000403058C7orf10chr740535985-POU6F2chr739446199+0.0032007030.99679923
ENST00000335693ENST00000518318C7orf10chr740535985-POU6F2chr739446199+0.0002029960.99979705

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 C7orf10-POU6F2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
C7orf10chr740535985POU6F2chr7394461991133369GPINNMKNVFAEPQLVNNPLASQAAA
C7orf10chr740535985POU6F2chr7394461991134369GPINNMKNVFAEPQLVNNPLASQAAA
C7orf10chr740535985POU6F2chr739446199989321GPINNMKNVFAEPQLVNNPLASQAAA

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Potential FusionNeoAntigen Information of C7orf10-POU6F2 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.
C7orf10-POU6F2_40535985_39446199.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)
C7orf10-POU6F2chr740535985chr7394461991134HLA-B45:01AEPQLVNNP0.98950.78931019
C7orf10-POU6F2chr740535985chr7394461991134HLA-B50:02AEPQLVNNP0.98290.64541019
C7orf10-POU6F2chr740535985chr7394461991134HLA-B35:03EPQLVNNPL0.9320.65111120
C7orf10-POU6F2chr740535985chr7394461991134HLA-A02:21NVFAEPQLV0.91070.5623716
C7orf10-POU6F2chr740535985chr7394461991134HLA-B35:04EPQLVNNPL0.82260.69311120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B35:02EPQLVNNPL0.82260.69311120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B13:02NVFAEPQLV0.65090.5765716
C7orf10-POU6F2chr740535985chr7394461991134HLA-B52:01NVFAEPQLV0.62860.9421716
C7orf10-POU6F2chr740535985chr7394461991134HLA-B41:01AEPQLVNNP0.49140.8651019
C7orf10-POU6F2chr740535985chr7394461991134HLA-B50:01AEPQLVNNP0.48580.72581019
C7orf10-POU6F2chr740535985chr7394461991134HLA-A02:20KNVFAEPQLV0.35380.5205616
C7orf10-POU6F2chr740535985chr7394461991134HLA-B40:06AEPQLVNNP0.98780.69091019
C7orf10-POU6F2chr740535985chr7394461991134HLA-C06:03NVFAEPQLV0.91160.9949716
C7orf10-POU6F2chr740535985chr7394461991134HLA-B35:12EPQLVNNPL0.82260.69311120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B39:10EPQLVNNPL0.69010.68911120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B51:07NVFAEPQLV0.66060.8783716
C7orf10-POU6F2chr740535985chr7394461991134HLA-A69:01NVFAEPQLV0.99460.6375716
C7orf10-POU6F2chr740535985chr7394461991134HLA-A02:06NVFAEPQLV0.91070.5623716
C7orf10-POU6F2chr740535985chr7394461991134HLA-A02:03NVFAEPQLV0.85530.5352716
C7orf10-POU6F2chr740535985chr7394461991134HLA-B35:09EPQLVNNPL0.82260.69311120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B35:24EPQLVNNPL0.80980.72751120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B67:01EPQLVNNPL0.71940.53131120
C7orf10-POU6F2chr740535985chr7394461991134HLA-B50:04AEPQLVNNP0.48580.72581019
C7orf10-POU6F2chr740535985chr7394461991134HLA-B50:05AEPQLVNNP0.48580.72581019
C7orf10-POU6F2chr740535985chr7394461991134HLA-B67:01AEPQLVNNPL0.830.59231020

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Potential FusionNeoAntigen Information of C7orf10-POU6F2 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.
C7orf10-POU6F2_40535985_39446199.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)
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0303EPQLVNNPLASQAAA1126
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0403GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0413GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0415GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0419GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0427GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0436GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0437GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0439GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0440GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0441GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0442GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0444GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0446GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0449GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0450GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0451GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0452GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0453GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0455GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0456GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0458GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0459GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0460GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0461GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0465GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0468GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0470GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0471GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0473GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0475GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0478GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0479GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0485GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-0488GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB1-1419EPQLVNNPLASQAAA1126
C7orf10-POU6F2chr740535985chr7394461991134DRB1-1447EPQLVNNPLASQAAA1126
C7orf10-POU6F2chr740535985chr7394461991134DRB1-1447AEPQLVNNPLASQAA1025
C7orf10-POU6F2chr740535985chr7394461991134DRB1-1615GPINNMKNVFAEPQL015
C7orf10-POU6F2chr740535985chr7394461991134DRB3-0201EPQLVNNPLASQAAA1126
C7orf10-POU6F2chr740535985chr7394461991134DRB3-0204EPQLVNNPLASQAAA1126
C7orf10-POU6F2chr740535985chr7394461991134DRB3-0204AEPQLVNNPLASQAA1025
C7orf10-POU6F2chr740535985chr7394461991134DRB3-0214EPQLVNNPLASQAAA1126
C7orf10-POU6F2chr740535985chr7394461991134DRB3-0224EPQLVNNPLASQAAA1126

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Fusion breakpoint peptide structures of C7orf10-POU6F2

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
4469KNVFAEPQLVNNPLC7orf10POU6F2chr740535985chr7394461991134

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of C7orf10-POU6F2

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-B14:023BVN4469KNVFAEPQLVNNPL-5.50071-6.53601
HLA-B14:023BVN4469KNVFAEPQLVNNPL-5.44997-5.56337
HLA-B52:013W394469KNVFAEPQLVNNPL-6.87928-6.99268
HLA-B52:013W394469KNVFAEPQLVNNPL-3.95744-4.99274
HLA-A24:025HGA4469KNVFAEPQLVNNPL-7.30598-7.41938
HLA-A24:025HGA4469KNVFAEPQLVNNPL-5.09366-6.12896
HLA-B44:053DX84469KNVFAEPQLVNNPL-5.64505-5.75845
HLA-B44:053DX84469KNVFAEPQLVNNPL-4.1878-5.2231
HLA-A02:016TDR4469KNVFAEPQLVNNPL-0.0912853-1.12659

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Vaccine Design for the FusionNeoAntigens of C7orf10-POU6F2

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
C7orf10-POU6F2chr740535985chr7394461991019AEPQLVNNPGAACCTCAGCTGGTTAATAATCCACTA
C7orf10-POU6F2chr740535985chr7394461991020AEPQLVNNPLGAACCTCAGCTGGTTAATAATCCACTAGCA
C7orf10-POU6F2chr740535985chr7394461991120EPQLVNNPLCCTCAGCTGGTTAATAATCCACTAGCA
C7orf10-POU6F2chr740535985chr739446199616KNVFAEPQLVAATGTATTTGCAGAACCTCAGCTGGTTAAT
C7orf10-POU6F2chr740535985chr739446199716NVFAEPQLVGTATTTGCAGAACCTCAGCTGGTTAAT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
C7orf10-POU6F2chr740535985chr739446199015GPINNMKNVFAEPQLCCAATCAACAACATGAAGAATGTATTTGCAGAACCTCAGCTGGTT
C7orf10-POU6F2chr740535985chr7394461991025AEPQLVNNPLASQAAGAACCTCAGCTGGTTAATAATCCACTAGCAAGTCAGGCTGCAGCG
C7orf10-POU6F2chr740535985chr7394461991126EPQLVNNPLASQAAACCTCAGCTGGTTAATAATCCACTAGCAAGTCAGGCTGCAGCGGCT

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Information of the samples that have these potential fusion neoantigens of C7orf10-POU6F2

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
BRCAC7orf10-POU6F2chr740535985ENST00000309930chr739446199ENST00000403058TCGA-A7-A26G-01A

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Potential target of CAR-T therapy development for C7orf10-POU6F2

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 C7orf10-POU6F2

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 C7orf10-POU6F2

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