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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:APBB1IP-DNAJC1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: APBB1IP-DNAJC1
FusionPDB ID: 5345
FusionGDB2.0 ID: 5345
HgeneTgene
Gene symbol

APBB1IP

DNAJC1

Gene ID

54518

64215

Gene nameamyloid beta precursor protein binding family B member 1 interacting proteinDnaJ heat shock protein family (Hsp40) member C1
SynonymsINAG1|PREL1|RARP1|RIAMDNAJL1|ERdj1|HTJ1|MTJ1
Cytomap

10p12.1

10p12.31

Type of geneprotein-codingprotein-coding
Descriptionamyloid beta A4 precursor protein-binding family B member 1-interacting proteinAPBB1-interacting protein 1PREL-1RARP-1Rap1-GTP-interacting adaptor moleculeRap1-interacting adaptor moleculeproline rich EVH1 ligand 1proline-rich protein 73rap1-GTP-idnaJ homolog subfamily C member 1DnaJ (Hsp40) homolog, subfamily C, member 1DnaJ-like proteindnaJ protein homolog MTJ1
Modification date2020031320200313
UniProtAcc

Q7Z5R6

Main function of 5'-partner protein: FUNCTION: Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion. {ECO:0000269|PubMed:14530287, ECO:0000269|PubMed:15469846}.

Q96DA6

Main function of 5'-partner protein: FUNCTION: Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling (By similarity). May be a component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity). {ECO:0000250|UniProtKB:Q07914, ECO:0000250|UniProtKB:Q9CQV7}.
Ensembl transtripts involved in fusion geneENST idsENST00000376236, ENST00000356785, 
ENST00000493857, 
ENST00000483085, 
ENST00000376946, ENST00000376980, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 3=2712 X 9 X 6=648
# samples 313
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/648*10)=-2.31748218985617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: APBB1IP [Title/Abstract] AND DNAJC1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: APBB1IP [Title/Abstract] AND DNAJC1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)APBB1IP(26830621)-DNAJC1(22218070), # samples:3
Anticipated loss of major functional domain due to fusion event.APBB1IP-DNAJC1 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.
APBB1IP-DNAJC1 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.
APBB1IP-DNAJC1 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.
APBB1IP-DNAJC1 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
TgeneDNAJC1

GO:0050708

regulation of protein secretion

14668352



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/chr10:26830621/chr10:22218070)
- 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 APBB1IP (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 DNAJC1 (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)
ENST00000376236APBB1IPchr1026830621+ENST00000376980DNAJC1chr1022218070-320316104553052865
ENST00000376236APBB1IPchr1026830621+ENST00000376946DNAJC1chr1022218070-206616104551717420

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
ENST00000376236ENST00000376980APBB1IPchr1026830621+DNAJC1chr1022218070-0.001631380.9983687
ENST00000376236ENST00000376946APBB1IPchr1026830621+DNAJC1chr1022218070-0.0004839210.9995161

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 APBB1IP-DNAJC1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
APBB1IPchr1026830621DNAJC1chr10222180701610383KMKYKAPTDYCFVLKDASSADIRKAY

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Potential FusionNeoAntigen Information of APBB1IP-DNAJC1 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.
APBB1IP-DNAJC1_26830621_22218070.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)
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B35:03APTDYCFVL0.95540.9144514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B35:02APTDYCFVL0.89740.9472514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B35:04APTDYCFVL0.89740.9472514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B81:01APTDYCFVL0.35670.6045514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B07:12APTDYCFVL0.94280.7503514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B35:12APTDYCFVL0.89740.9472514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B39:10APTDYCFVL0.86690.9587514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B42:02APTDYCFVL0.43840.8578514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B42:01APTDYCFVL0.40490.855514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B55:04APTDYCFVL0.95070.5084514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B35:13APTDYCFVL0.94160.9206514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B35:09APTDYCFVL0.89740.9472514
APBB1IP-DNAJC1chr1026830621chr10222180701610HLA-B67:01APTDYCFVL0.86330.7721514

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Potential FusionNeoAntigen Information of APBB1IP-DNAJC1 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 APBB1IP-DNAJC1

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
7036PTDYCFVLKDASSAAPBB1IPDNAJC1chr1026830621chr10222180701610

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of APBB1IP-DNAJC1

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-B14:023BVN7036PTDYCFVLKDASSA-8.24654-8.35834
HLA-B14:023BVN7036PTDYCFVLKDASSA-4.37148-5.41458
HLA-B52:013W397036PTDYCFVLKDASSA-7.30613-7.41793
HLA-B52:013W397036PTDYCFVLKDASSA-3.8424-4.8855
HLA-A11:014UQ27036PTDYCFVLKDASSA-7.68219-7.79399
HLA-A24:025HGA7036PTDYCFVLKDASSA-10.4053-10.5171
HLA-A24:025HGA7036PTDYCFVLKDASSA-5.10207-6.14517
HLA-B44:053DX87036PTDYCFVLKDASSA-6.19253-6.30433
HLA-B44:053DX87036PTDYCFVLKDASSA-6.12534-7.16844

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Vaccine Design for the FusionNeoAntigens of APBB1IP-DNAJC1

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
APBB1IP-DNAJC1chr1026830621chr1022218070514APTDYCFVLACTGACTATTGCTTTGTTTTAAAGGAT

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 APBB1IP-DNAJC1

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
SKCMAPBB1IP-DNAJC1chr1026830621ENST00000376236chr1022218070ENST00000376946TCGA-ER-A196-01A

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Potential target of CAR-T therapy development for APBB1IP-DNAJC1

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
TgeneDNAJC1chr10:26830621chr10:22218070ENST00000376980012154_1740555.0TransmembraneHelical

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 APBB1IP-DNAJC1

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 APBB1IP-DNAJC1

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