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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:FAM102A-CIZ1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FAM102A-CIZ1
FusionPDB ID: 28286
FusionGDB2.0 ID: 28286
HgeneTgene
Gene symbol

FAM102A

CIZ1

Gene ID

399665

25792

Gene namefamily with sequence similarity 102 member ACDKN1A interacting zinc finger protein 1
SynonymsC9orf132|EEIG1|SYM-3A|bA203J24.7LSFR1|NP94|ZNF356
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM102AC230093N12Rikearly estrogen-induced gene 1 proteinsym-3 homolog Acip1-interacting zinc finger proteinnuclear protein NP94zinc finger protein 356
Modification date2020032020200313
UniProtAcc

Q5T9C2

Main function of 5'-partner protein: FUNCTION: May play a role in estrogen action. {ECO:0000269|PubMed:14605097}.

Q9ULV3

Main function of 5'-partner protein: FUNCTION: May regulate the subcellular localization of CIP/WAF1.
Ensembl transtripts involved in fusion geneENST idsENST00000373095, ENST00000300434, 
ENST00000373084, 
ENST00000476727, 
ENST00000277465, ENST00000325721, 
ENST00000357558, ENST00000372938, 
ENST00000372948, ENST00000372954, 
ENST00000393608, ENST00000538431, 
ENST00000541172, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 7 X 10=7709 X 9 X 4=324
# samples 1610
** MAII scorelog2(16/770*10)=-2.2667865406949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: FAM102A [Title/Abstract] AND CIZ1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: FAM102A [Title/Abstract] AND CIZ1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FAM102A(130742271)-CIZ1(130929443), # samples:1
Anticipated loss of major functional domain due to fusion event.FAM102A-CIZ1 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.
FAM102A-CIZ1 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.
FAM102A-CIZ1 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.
FAM102A-CIZ1 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/chr9:130742271/chr9:130929443)
- 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 FAM102A (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 CIZ1 (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)
ENST00000373095FAM102Achr9130742271-ENST00000372954CIZ1chr9130929443-1056522204923239
ENST00000373095FAM102Achr9130742271-ENST00000393608CIZ1chr9130929443-1056522204923239
ENST00000373095FAM102Achr9130742271-ENST00000541172CIZ1chr9130929443-1055522204923239
ENST00000373095FAM102Achr9130742271-ENST00000357558CIZ1chr9130929443-1055522204923239
ENST00000373095FAM102Achr9130742271-ENST00000325721CIZ1chr9130929443-1055522204923239
ENST00000373095FAM102Achr9130742271-ENST00000538431CIZ1chr9130929443-1055522204923239
ENST00000373095FAM102Achr9130742271-ENST00000277465CIZ1chr9130929443-1050522204923239
ENST00000373095FAM102Achr9130742271-ENST00000372948CIZ1chr9130929443-1050522204923239
ENST00000373095FAM102Achr9130742271-ENST00000372938CIZ1chr9130929443-1048522204923239

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
ENST00000373095ENST00000372954FAM102Achr9130742271-CIZ1chr9130929443-0.45744060.5425594
ENST00000373095ENST00000393608FAM102Achr9130742271-CIZ1chr9130929443-0.45744060.5425594
ENST00000373095ENST00000541172FAM102Achr9130742271-CIZ1chr9130929443-0.46934460.5306554
ENST00000373095ENST00000357558FAM102Achr9130742271-CIZ1chr9130929443-0.46934460.5306554
ENST00000373095ENST00000325721FAM102Achr9130742271-CIZ1chr9130929443-0.46934460.5306554
ENST00000373095ENST00000538431FAM102Achr9130742271-CIZ1chr9130929443-0.46934460.5306554
ENST00000373095ENST00000277465FAM102Achr9130742271-CIZ1chr9130929443-0.440685240.5593147
ENST00000373095ENST00000372948FAM102Achr9130742271-CIZ1chr9130929443-0.440685240.5593147
ENST00000373095ENST00000372938FAM102Achr9130742271-CIZ1chr9130929443-0.44548520.5545148

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 FAM102A-CIZ1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
FAM102Achr9130742271CIZ1chr9130929443522106AAGWRGFCQLVVKVRSRDISREEWKG

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Potential FusionNeoAntigen Information of FAM102A-CIZ1 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.
FAM102A-CIZ1_130742271_130929443.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)
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A30:08KVRSRDISR0.99610.69451221
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A74:11KVRSRDISR0.98790.55161221
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A74:09KVRSRDISR0.98790.55161221
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A74:03KVRSRDISR0.98790.55161221
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A31:02KVRSRDISR0.82270.52171221
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A30:01KVRSRDISR0.99620.86511221
FAM102A-CIZ1chr9130742271chr9130929443522HLA-A74:01KVRSRDISR0.98790.55161221

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Potential FusionNeoAntigen Information of FAM102A-CIZ1 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 FAM102A-CIZ1

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
2312FCQLVVKVRSRDISFAM102ACIZ1chr9130742271chr9130929443522

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of FAM102A-CIZ1

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-B14:023BVN2312FCQLVVKVRSRDIS-7.9962-8.1096
HLA-B14:023BVN2312FCQLVVKVRSRDIS-5.70842-6.74372
HLA-B52:013W392312FCQLVVKVRSRDIS-6.83737-6.95077
HLA-B52:013W392312FCQLVVKVRSRDIS-4.4836-5.5189
HLA-A11:014UQ22312FCQLVVKVRSRDIS-10.0067-10.1201
HLA-A11:014UQ22312FCQLVVKVRSRDIS-9.03915-10.0745
HLA-A24:025HGA2312FCQLVVKVRSRDIS-6.56204-6.67544
HLA-A24:025HGA2312FCQLVVKVRSRDIS-5.42271-6.45801
HLA-B44:053DX82312FCQLVVKVRSRDIS-7.85648-8.89178
HLA-B44:053DX82312FCQLVVKVRSRDIS-5.3978-5.5112
HLA-A02:016TDR2312FCQLVVKVRSRDIS-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of FAM102A-CIZ1

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
FAM102A-CIZ1chr9130742271chr91309294431221KVRSRDISRAAGGTGAGGTCCAGAGATATATCCAGA

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 FAM102A-CIZ1

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
BRCAFAM102A-CIZ1chr9130742271ENST00000373095chr9130929443ENST00000277465TCGA-C8-A137-01A

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Potential target of CAR-T therapy development for FAM102A-CIZ1

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 FAM102A-CIZ1

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 FAM102A-CIZ1

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