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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:ACTR3B-JMJD1C

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACTR3B-JMJD1C
FusionPDB ID: 1845
FusionGDB2.0 ID: 1845
HgeneTgene
Gene symbol

ACTR3B

JMJD1C

Gene ID

57180

221037

Gene nameactin related protein 3Bjumonji domain containing 1C
SynonymsARP11|ARP3BETAKDM3C|TRIP-8|TRIP8
Cytomap

7q36.1-q36.2

10q21.3

Type of geneprotein-codingprotein-coding
Descriptionactin-related protein 3BARP3 actin related protein 3 homolog BARP3-betaactin-like protein 3Bactin-related protein 3-betaactin-related protein ARP4actin-related protein Arp11probable JmjC domain-containing histone demethylation protein 2CTR-interacting protein 8thyroid hormone receptor interactor 8thyroid receptor-interacting protein 8
Modification date2020031320200313
UniProtAcc

Q9P1U1

Main function of 5'-partner protein: FUNCTION: Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. {ECO:0000269|PubMed:14651955}.

Q15652

Main function of 5'-partner protein: FUNCTION: Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity). {ECO:0000250}.
Ensembl transtripts involved in fusion geneENST idsENST00000256001, ENST00000377776, 
ENST00000397282, ENST00000537264, 
ENST00000488782, 
ENST00000399251, 
ENST00000402544, ENST00000489372, 
ENST00000542921, ENST00000399262, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 4 X 4=9619 X 16 X 5=1520
# samples 617
** MAII scorelog2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1520*10)=-3.16046467219325
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ACTR3B [Title/Abstract] AND JMJD1C [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ACTR3B [Title/Abstract] AND JMJD1C [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACTR3B(152522207)-JMJD1C(65140242), # samples:1
Anticipated loss of major functional domain due to fusion event.ACTR3B-JMJD1C 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.
ACTR3B-JMJD1C 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/chr7:152522207/chr10:65140242)
- 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 ACTR3B (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 JMJD1C (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)
ENST00000377776ACTR3Bchr7152522207+ENST00000399262JMJD1Cchr1065140242-936410854785392830
ENST00000256001ACTR3Bchr7152522207+ENST00000399262JMJD1Cchr1065140242-936410854785392830
ENST00000397282ACTR3Bchr7152522207+ENST00000399262JMJD1Cchr1065140242-926999019284442750
ENST00000537264ACTR3Bchr7152522207+ENST00000399262JMJD1Cchr1065140242-915988010983342741

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
ENST00000377776ENST00000399262ACTR3Bchr7152522207+JMJD1Cchr1065140242-0.0002755440.99972445
ENST00000256001ENST00000399262ACTR3Bchr7152522207+JMJD1Cchr1065140242-0.0002755440.99972445
ENST00000397282ENST00000399262ACTR3Bchr7152522207+JMJD1Cchr1065140242-0.0003217410.99967825
ENST00000537264ENST00000399262ACTR3Bchr7152522207+JMJD1Cchr1065140242-0.0002794150.9997205

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 ACTR3B-JMJD1C

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ACTR3Bchr7152522207JMJD1Cchr10651402421085346QNCPIDVRRPLYKVYVEFDDLEWDKR
ACTR3Bchr7152522207JMJD1Cchr1065140242880257QNCPIDVRRPLYKVYVEFDDLEWDKR
ACTR3Bchr7152522207JMJD1Cchr1065140242990266QNCPIDVRRPLYKVYVEFDDLEWDKR

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Potential FusionNeoAntigen Information of ACTR3B-JMJD1C 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.
ACTR3B-JMJD1C_152522207_65140242.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)
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:02VRRPLYKVY0.99250.5042615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:04VRRPLYKVY0.99060.5969615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-A32:13PLYKVYVEF0.83120.7349918
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B15:03VRRPLYKVY0.26650.5455615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:05RRPLYKVYVEF10.711718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:04RRPLYKVYVEF10.5691718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B57:01KVYVEFDDLEW0.99990.99611223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B58:02KVYVEFDDLEW0.99980.99041223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B57:03KVYVEFDDLEW0.99960.99611223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B58:01KVYVEFDDLEW0.99960.98981223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-A32:13KVYVEFDDLEW0.99890.97951223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:67RRPLYKVY0.99660.7771715
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:80RRPLYKVY0.99660.7771715
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:10RRPLYKVY0.99630.8016715
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:46RRPLYKVY0.99620.6351715
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:05RRPLYKVYV0.91490.9576716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:27VRRPLYKVY0.90970.8584615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:05VRRPLYKVY0.85710.891615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:27RRPLYKVYV0.84810.9313716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:19RRPLYKVYV0.83280.5292716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:95RRPLYKVYV0.82420.645716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:67RRPLYKVYV0.81410.8908716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:80RRPLYKVYV0.81410.8908716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:10RRPLYKVYV0.80960.8964716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:10VRRPLYKVY0.80470.7929615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:80VRRPLYKVY0.80130.7607615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:67VRRPLYKVY0.80130.7607615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:46VRRPLYKVY0.78160.6098615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:46RRPLYKVYV0.78040.7716716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:29RRPLYKVYV0.7040.9329716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:13RRPLYKVYV0.62770.8967716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C12:16VRRPLYKVY0.08750.8811615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C12:16RRPLYKVYV0.0030.9328716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:14RRPLYKVYVEF10.6639718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:03RRPLYKVYVEF0.9990.7448718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:02RRPLYKVY0.99660.7771715
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C14:02LYKVYVEF0.95410.92071018
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C14:03LYKVYVEF0.95410.92071018
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:06RRPLYKVYV0.99840.6834716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:10VRRPLYKVY0.990.7718615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:08RRPLYKVYV0.93590.9709716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:01RRPLYKVYV0.89590.5974716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:02RRPLYKVYV0.81410.8908716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:17RRPLYKVYV0.81070.9417716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:02VRRPLYKVY0.80130.7607615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:17VRRPLYKVY0.79740.8938615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-A69:01DVRRPLYKV0.76460.6594514
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:22RRPLYKVYV0.50330.6972716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C07:04RRPLYKVYV0.38480.9336716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:06RRPLYKVYV0.19830.9824716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:08VRRPLYKVY0.17720.9619615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B15:54VRRPLYKVY0.12430.6716615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:02RRPLYKVYV0.01880.9838716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:17RRPLYKVYV0.01880.9838716
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:17VRRPLYKVY0.00420.9725615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-C06:02VRRPLYKVY0.00420.9725615
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-A32:01RPLYKVYVEF0.88940.6551818
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:08RRPLYKVYVEF10.5692718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:10RRPLYKVYVEF10.7102718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B57:04KVYVEFDDLEW0.99990.91121223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:06RRPLYKVYVEF0.99990.5791718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B57:10KVYVEFDDLEW0.99990.99611223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B27:09RRPLYKVYVEF0.99980.6741718
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B58:06KVYVEFDDLEW0.99970.96161223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-B57:02KVYVEFDDLEW0.99950.95051223
ACTR3B-JMJD1Cchr7152522207chr10651402421085HLA-A32:01KVYVEFDDLEW0.99940.98011223

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Potential FusionNeoAntigen Information of ACTR3B-JMJD1C 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 ACTR3B-JMJD1C

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
10247VRRPLYKVYVEFDDACTR3BJMJD1Cchr7152522207chr10651402421085

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ACTR3B-JMJD1C

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-B14:023BVN10247VRRPLYKVYVEFDD-8.55667-8.74867
HLA-B14:023BVN10247VRRPLYKVYVEFDD-3.49457-4.25557
HLA-B52:013W3910247VRRPLYKVYVEFDD-7.26725-7.45925
HLA-B52:013W3910247VRRPLYKVYVEFDD-4.01461-4.77561
HLA-A24:025HGA10247VRRPLYKVYVEFDD-7.65911-8.42011
HLA-A24:025HGA10247VRRPLYKVYVEFDD-7.10204-7.29404
HLA-B44:053DX810247VRRPLYKVYVEFDD-7.5556-8.3166
HLA-B44:053DX810247VRRPLYKVYVEFDD-2.76159-2.95359
HLA-B35:011A1N10247VRRPLYKVYVEFDD-5.4014-6.1624
HLA-B35:011A1N10247VRRPLYKVYVEFDD-4.87859-5.07059

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Vaccine Design for the FusionNeoAntigens of ACTR3B-JMJD1C

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
ACTR3B-JMJD1Cchr7152522207chr10651402421018LYKVYVEFCTGTATAAGGTGTATGTGGAATTT
ACTR3B-JMJD1Cchr7152522207chr10651402421223KVYVEFDDLEWAAGGTGTATGTGGAATTTGATGATCTTGAATGG
ACTR3B-JMJD1Cchr7152522207chr1065140242514DVRRPLYKVGATGTGCGGCGCCCGCTGTATAAGGTG
ACTR3B-JMJD1Cchr7152522207chr1065140242615VRRPLYKVYGTGCGGCGCCCGCTGTATAAGGTGTAT
ACTR3B-JMJD1Cchr7152522207chr1065140242715RRPLYKVYCGGCGCCCGCTGTATAAGGTGTAT
ACTR3B-JMJD1Cchr7152522207chr1065140242716RRPLYKVYVCGGCGCCCGCTGTATAAGGTGTATGTG
ACTR3B-JMJD1Cchr7152522207chr1065140242718RRPLYKVYVEFCGGCGCCCGCTGTATAAGGTGTATGTGGAATTT
ACTR3B-JMJD1Cchr7152522207chr1065140242818RPLYKVYVEFCGCCCGCTGTATAAGGTGTATGTGGAATTT
ACTR3B-JMJD1Cchr7152522207chr1065140242918PLYKVYVEFCCGCTGTATAAGGTGTATGTGGAATTT

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 ACTR3B-JMJD1C

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
COADACTR3B-JMJD1Cchr7152522207ENST00000256001chr1065140242ENST00000399262TCGA-A6-5656

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Potential target of CAR-T therapy development for ACTR3B-JMJD1C

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 ACTR3B-JMJD1C

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 ACTR3B-JMJD1C

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
TgeneJMJD1CC0004352Autistic Disorder1CTD_human
TgeneJMJD1CC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneJMJD1CC0012236DiGeorge Syndrome1ORPHANET
TgeneJMJD1CC0087031Juvenile-Onset Still Disease1CTD_human
TgeneJMJD1CC0220704Shprintzen syndrome1ORPHANET
TgeneJMJD1CC0431406Asymmetric crying face association1ORPHANET
TgeneJMJD1CC0795907CONOTRUNCAL ANOMALY FACE SYNDROME1ORPHANET
TgeneJMJD1CC1333813Central Nervous System Germinoma1ORPHANET
TgeneJMJD1CC293634622q11 Deletion Syndrome1ORPHANET
TgeneJMJD1CC326610122q11 partial monosomy syndrome1ORPHANET
TgeneJMJD1CC3495559Juvenile arthritis1CTD_human
TgeneJMJD1CC3714758Juvenile psoriatic arthritis1CTD_human
TgeneJMJD1CC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneJMJD1CC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human