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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:SPG11-CAMK2G

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SPG11-CAMK2G
FusionPDB ID: 85733
FusionGDB2.0 ID: 85733
HgeneTgene
Gene symbol

SPG11

CAMK2G

Gene ID

80208

818

Gene nameSPG11 vesicle trafficking associated, spatacsincalcium/calmodulin dependent protein kinase II gamma
SynonymsALS5|CMT2X|KIAA1840CAMK|CAMK-II|CAMKG|MRD59
Cytomap

15q21.1

10q22.2

Type of geneprotein-codingprotein-coding
DescriptionspatacsinSPG11, spatacsin vesicle trafficking associatedamyotrophic lateral sclerosis 5colorectal carcinoma-associated proteinspastic paraplegia 11 (autosomal recessive)spastic paraplegia 11 proteincalcium/calmodulin-dependent protein kinase type II subunit gammacaMK-II subunit gammacalcium/calmodulin-dependent protein kinase (CaM kinase) II gamma
Modification date2020032920200313
UniProtAcc.

Q13555

Main function of 5'-partner protein: FUNCTION: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In the central nervous system, it is involved in the regulation of neurite formation and arborization (PubMed:30184290). It may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. {ECO:0000269|PubMed:16690701, ECO:0000269|PubMed:30184290}.
Ensembl transtripts involved in fusion geneENST idsENST00000261866, ENST00000427534, 
ENST00000535302, ENST00000558253, 
ENST00000558319, ENST00000559193, 
ENST00000444854, ENST00000472912, 
ENST00000305762, ENST00000322635, 
ENST00000322680, ENST00000351293, 
ENST00000372765, ENST00000394762, 
ENST00000423381, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 11 X 7=8479 X 8 X 6=432
# samples 1211
** MAII scorelog2(12/847*10)=-2.81932756372368
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/432*10)=-1.97352778863881
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SPG11 [Title/Abstract] AND CAMK2G [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SPG11 [Title/Abstract] AND CAMK2G [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SPG11(44865745)-CAMK2G(75613004), # samples:3
Anticipated loss of major functional domain due to fusion event.SPG11-CAMK2G 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.
SPG11-CAMK2G 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.
SPG11-CAMK2G 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.
SPG11-CAMK2G 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/chr15:44865745/chr10:75613004)
- 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 SPG11 (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 CAMK2G (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)
ENST00000261866SPG11chr1544865745-ENST00000351293CAMK2Gchr1075613004-950762221774892490
ENST00000261866SPG11chr1544865745-ENST00000322635CAMK2Gchr1075613004-960362221775852522
ENST00000261866SPG11chr1544865745-ENST00000394762CAMK2Gchr1075613004-962162221776032528
ENST00000261866SPG11chr1544865745-ENST00000423381CAMK2Gchr1075613004-978662221777682583
ENST00000261866SPG11chr1544865745-ENST00000322680CAMK2Gchr1075613004-969062221776722551
ENST00000261866SPG11chr1544865745-ENST00000305762CAMK2Gchr1075613004-782262221775912524
ENST00000261866SPG11chr1544865745-ENST00000372765CAMK2Gchr1075613004-778362221775522511
ENST00000427534SPG11chr1544865745-ENST00000351293CAMK2Gchr1075613004-94906205074722490
ENST00000427534SPG11chr1544865745-ENST00000322635CAMK2Gchr1075613004-95866205075682522
ENST00000427534SPG11chr1544865745-ENST00000394762CAMK2Gchr1075613004-96046205075862528
ENST00000427534SPG11chr1544865745-ENST00000423381CAMK2Gchr1075613004-97696205077512583
ENST00000427534SPG11chr1544865745-ENST00000322680CAMK2Gchr1075613004-96736205076552551
ENST00000427534SPG11chr1544865745-ENST00000305762CAMK2Gchr1075613004-78056205075742524
ENST00000427534SPG11chr1544865745-ENST00000372765CAMK2Gchr1075613004-77666205075352511

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
ENST00000261866ENST00000351293SPG11chr1544865745-CAMK2Gchr1075613004-0.000912160.9990878
ENST00000261866ENST00000322635SPG11chr1544865745-CAMK2Gchr1075613004-0.0009801190.99901986
ENST00000261866ENST00000394762SPG11chr1544865745-CAMK2Gchr1075613004-0.0012842170.99871576
ENST00000261866ENST00000423381SPG11chr1544865745-CAMK2Gchr1075613004-0.0011697770.99883026
ENST00000261866ENST00000322680SPG11chr1544865745-CAMK2Gchr1075613004-0.0011875880.99881244
ENST00000261866ENST00000305762SPG11chr1544865745-CAMK2Gchr1075613004-0.0014679440.99853206
ENST00000261866ENST00000372765SPG11chr1544865745-CAMK2Gchr1075613004-0.001108220.9988918
ENST00000427534ENST00000351293SPG11chr1544865745-CAMK2Gchr1075613004-0.0008984210.99910164
ENST00000427534ENST00000322635SPG11chr1544865745-CAMK2Gchr1075613004-0.0009667610.9990332
ENST00000427534ENST00000394762SPG11chr1544865745-CAMK2Gchr1075613004-0.0012649520.998735
ENST00000427534ENST00000423381SPG11chr1544865745-CAMK2Gchr1075613004-0.0011529540.998847
ENST00000427534ENST00000322680SPG11chr1544865745-CAMK2Gchr1075613004-0.0011697330.99883026
ENST00000427534ENST00000305762SPG11chr1544865745-CAMK2Gchr1075613004-0.0014455480.9985544
ENST00000427534ENST00000372765SPG11chr1544865745-CAMK2Gchr1075613004-0.0010918960.99890816

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 SPG11-CAMK2G

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SPG11chr1544865745CAMK2Gchr107561300462052068EVTRELLTSSQGTVRLHDSISEEGFH
SPG11chr1544865745CAMK2Gchr107561300462222068EVTRELLTSSQGTVRLHDSISEEGFH

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Potential FusionNeoAntigen Information of SPG11-CAMK2G 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.
SPG11-CAMK2G_44865745_75613004.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)
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-A68:24ELLTSSQGTVR0.9860.5808415
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-A68:03ELLTSSQGTVR0.9820.5398415
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-A68:05ELLTSSQGTVR0.97860.5441415
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:07TSSQGTVRL0.99880.9664716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:19TSSQGTVRL0.99850.9755716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:08TSSQGTVRL0.99840.9028716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C15:06TSSQGTVRL0.99770.9173716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C01:17TSSQGTVRL0.9880.9241716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C04:06TSSQGTVRL0.98640.8622716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C08:04TSSQGTVRL0.95980.9648716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C08:13TSSQGTVRL0.95980.9648716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C06:03TSSQGTVRL0.74930.985716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C12:04TSSQGTVRL0.73350.9915716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C08:03TSSQGTVRL0.61050.98716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C02:06TSSQGTVRL0.360.966716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-A68:01ELLTSSQGTVR0.9860.5808415
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:04TSSQGTVRL0.99850.9828716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:03TSSQGTVRL0.99850.9828716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C01:03TSSQGTVRL0.99780.8574716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C15:05TSSQGTVRL0.99720.9008716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:17TSSQGTVRL0.99660.9715716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C15:02TSSQGTVRL0.99620.8547716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:05TSSQGTVRL0.99610.912716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C03:06TSSQGTVRL0.84090.9814716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C16:02TSSQGTVRL0.73350.9934716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C08:01TSSQGTVRL0.61050.98716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C16:01TSSQGTVRL0.57680.9699716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-C17:01TSSQGTVRL0.20440.8997716
SPG11-CAMK2Gchr1544865745chr10756130046222HLA-B07:13TSSQGTVRL0.12730.8313716

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Potential FusionNeoAntigen Information of SPG11-CAMK2G 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.
SPG11-CAMK2G_44865745_75613004.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)
SPG11-CAMK2Gchr1544865745chr10756130046222DRB1-1457QGTVRLHDSISEEGF1025
SPG11-CAMK2Gchr1544865745chr10756130046222DRB1-1457SQGTVRLHDSISEEG924

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Fusion breakpoint peptide structures of SPG11-CAMK2G

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
5745LTSSQGTVRLHDSISPG11CAMK2Gchr1544865745chr10756130046222

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SPG11-CAMK2G

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-B14:023BVN5745LTSSQGTVRLHDSI-7.15543-7.26883
HLA-B14:023BVN5745LTSSQGTVRLHDSI-4.77435-5.80965
HLA-B52:013W395745LTSSQGTVRLHDSI-6.80875-6.92215
HLA-B52:013W395745LTSSQGTVRLHDSI-4.20386-5.23916
HLA-A11:014UQ25745LTSSQGTVRLHDSI-7.5194-8.5547
HLA-A11:014UQ25745LTSSQGTVRLHDSI-6.9601-7.0735
HLA-A24:025HGA5745LTSSQGTVRLHDSI-7.52403-7.63743
HLA-A24:025HGA5745LTSSQGTVRLHDSI-5.82433-6.85963
HLA-B27:056PYJ5745LTSSQGTVRLHDSI-3.28285-4.31815
HLA-B44:053DX85745LTSSQGTVRLHDSI-5.91172-6.94702
HLA-B44:053DX85745LTSSQGTVRLHDSI-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of SPG11-CAMK2G

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
SPG11-CAMK2Gchr1544865745chr1075613004415ELLTSSQGTVRAGCTGCTTACTTCATCACAGGGAACAGTGCGCC
SPG11-CAMK2Gchr1544865745chr1075613004716TSSQGTVRLCTTCATCACAGGGAACAGTGCGCCTCC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SPG11-CAMK2Gchr1544865745chr10756130041025QGTVRLHDSISEEGFAGGGAACAGTGCGCCTCCATGACAGTATTTCTGAAGAAGGGTTTC
SPG11-CAMK2Gchr1544865745chr1075613004924SQGTVRLHDSISEEGCACAGGGAACAGTGCGCCTCCATGACAGTATTTCTGAAGAAGGGT

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Information of the samples that have these potential fusion neoantigens of SPG11-CAMK2G

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
BRCASPG11-CAMK2Gchr1544865745ENST00000261866chr1075613004ENST00000305762TCGA-AO-A03P-01A

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Potential target of CAR-T therapy development for SPG11-CAMK2G

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 SPG11-CAMK2G

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 SPG11-CAMK2G

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