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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:ECHDC1-FYN

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ECHDC1-FYN
FusionPDB ID: 24876
FusionGDB2.0 ID: 24876
HgeneTgene
Gene symbol

ECHDC1

FYN

Gene ID

55862

2534

Gene nameethylmalonyl-CoA decarboxylase 1FYN proto-oncogene, Src family tyrosine kinase
SynonymsHEL-S-76|MMCD|dJ351K20.2SLK|SYN|p59-FYN
Cytomap

6q22.33

6q21

Type of geneprotein-codingprotein-coding
Descriptionethylmalonyl-CoA decarboxylaseenoyl CoA hydratase domain containing 1enoyl Coenzyme A hydratase domain containing 1enoyl-CoA hydratase domain-containing protein 1epididymis secretory protein Li 76methylmalonyl-CoA decarboxylasetyrosine-protein kinase FynFYN oncogene related to SRC, FGR, YESOKT3-induced calcium influx regulatorc-syn protooncogeneproto-oncogene Synproto-oncogene c-Fynsrc-like kinasesrc/yes-related noveltyrosine kinase p59fyn(T)
Modification date2020031320200327
UniProtAcc

Q9NTX5

Main function of 5'-partner protein: FUNCTION: Decarboxylates ethylmalonyl-CoA, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading (PubMed:22016388). Also has methylmalonyl-CoA decarboxylase activity at lower level (By similarity). {ECO:0000250|UniProtKB:Q9D9V3, ECO:0000269|PubMed:22016388}.

C1orf168

Main function of 5'-partner protein: 728
Ensembl transtripts involved in fusion geneENST idsENST00000368289, ENST00000368291, 
ENST00000528402, ENST00000309620, 
ENST00000430841, ENST00000454591, 
ENST00000454859, ENST00000474289, 
ENST00000531967, ENST00000488087, 
ENST00000229471, ENST00000354650, 
ENST00000368667, ENST00000368678, 
ENST00000368682, ENST00000476769, 
ENST00000229470, ENST00000356013, 
ENST00000538466, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 7 X 6=29419 X 14 X 12=3192
# samples 827
** MAII scorelog2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/3192*10)=-3.56342933917152
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ECHDC1 [Title/Abstract] AND FYN [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ECHDC1 [Title/Abstract] AND FYN [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ECHDC1(127635961)-FYN(112029223), # samples:3
Anticipated loss of major functional domain due to fusion event.ECHDC1-FYN 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.
ECHDC1-FYN 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.
ECHDC1-FYN 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.
ECHDC1-FYN 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.
ECHDC1-FYN seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ECHDC1-FYN seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted 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
TgeneFYN

GO:0050852

T cell receptor signaling pathway

7722293



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/chr6:127635961/chr6:112029223)
- 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 ECHDC1 (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 FYN (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)
ENST00000454591ECHDC1chr6127635961-ENST00000368682FYNchr6112029223-31725042321764510
ENST00000454591ECHDC1chr6127635961-ENST00000354650FYNchr6112029223-31815042321773513
ENST00000454591ECHDC1chr6127635961-ENST00000229471FYNchr6112029223-20665042321608458
ENST00000454591ECHDC1chr6127635961-ENST00000368667FYNchr6112029223-22315042321773513
ENST00000454591ECHDC1chr6127635961-ENST00000368678FYNchr6112029223-22185042321764510
ENST00000430841ECHDC1chr6127635961-ENST00000368682FYNchr6112029223-3268600551860601
ENST00000430841ECHDC1chr6127635961-ENST00000354650FYNchr6112029223-3277600551869604
ENST00000430841ECHDC1chr6127635961-ENST00000229471FYNchr6112029223-2162600551704549
ENST00000430841ECHDC1chr6127635961-ENST00000368667FYNchr6112029223-2327600551869604
ENST00000430841ECHDC1chr6127635961-ENST00000368678FYNchr6112029223-2314600551860601
ENST00000531967ECHDC1chr6127635961-ENST00000368682FYNchr6112029223-368710195042279591
ENST00000531967ECHDC1chr6127635961-ENST00000354650FYNchr6112029223-369610195042288594
ENST00000531967ECHDC1chr6127635961-ENST00000229471FYNchr6112029223-258110195042123539
ENST00000531967ECHDC1chr6127635961-ENST00000368667FYNchr6112029223-274610195042288594
ENST00000531967ECHDC1chr6127635961-ENST00000368678FYNchr6112029223-273310195042279591
ENST00000454591ECHDC1chr6127635960-ENST00000368682FYNchr6112029223-31725042321764510
ENST00000454591ECHDC1chr6127635960-ENST00000354650FYNchr6112029223-31815042321773513
ENST00000454591ECHDC1chr6127635960-ENST00000229471FYNchr6112029223-20665042321608458
ENST00000454591ECHDC1chr6127635960-ENST00000368667FYNchr6112029223-22315042321773513
ENST00000454591ECHDC1chr6127635960-ENST00000368678FYNchr6112029223-22185042321764510
ENST00000430841ECHDC1chr6127635960-ENST00000368682FYNchr6112029223-3268600551860601
ENST00000430841ECHDC1chr6127635960-ENST00000354650FYNchr6112029223-3277600551869604
ENST00000430841ECHDC1chr6127635960-ENST00000229471FYNchr6112029223-2162600551704549
ENST00000430841ECHDC1chr6127635960-ENST00000368667FYNchr6112029223-2327600551869604
ENST00000430841ECHDC1chr6127635960-ENST00000368678FYNchr6112029223-2314600551860601
ENST00000531967ECHDC1chr6127635960-ENST00000368682FYNchr6112029223-368710195042279591
ENST00000531967ECHDC1chr6127635960-ENST00000354650FYNchr6112029223-369610195042288594
ENST00000531967ECHDC1chr6127635960-ENST00000229471FYNchr6112029223-258110195042123539
ENST00000531967ECHDC1chr6127635960-ENST00000368667FYNchr6112029223-274610195042288594
ENST00000531967ECHDC1chr6127635960-ENST00000368678FYNchr6112029223-273310195042279591

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
ENST00000454591ENST00000368682ECHDC1chr6127635961-FYNchr6112029223-0.0003551170.9996449
ENST00000454591ENST00000354650ECHDC1chr6127635961-FYNchr6112029223-0.000475530.9995245
ENST00000454591ENST00000229471ECHDC1chr6127635961-FYNchr6112029223-0.0010443060.9989557
ENST00000454591ENST00000368667ECHDC1chr6127635961-FYNchr6112029223-0.0011498640.9988501
ENST00000454591ENST00000368678ECHDC1chr6127635961-FYNchr6112029223-0.0007432530.9992568
ENST00000430841ENST00000368682ECHDC1chr6127635961-FYNchr6112029223-0.0008882790.9991117
ENST00000430841ENST00000354650ECHDC1chr6127635961-FYNchr6112029223-0.001017380.9989826
ENST00000430841ENST00000229471ECHDC1chr6127635961-FYNchr6112029223-0.0016828890.9983171
ENST00000430841ENST00000368667ECHDC1chr6127635961-FYNchr6112029223-0.0020889260.99791104
ENST00000430841ENST00000368678ECHDC1chr6127635961-FYNchr6112029223-0.0016670050.99833304
ENST00000531967ENST00000368682ECHDC1chr6127635961-FYNchr6112029223-0.0004445840.9995554
ENST00000531967ENST00000354650ECHDC1chr6127635961-FYNchr6112029223-0.0006214140.99937856
ENST00000531967ENST00000229471ECHDC1chr6127635961-FYNchr6112029223-0.0010112330.9989888
ENST00000531967ENST00000368667ECHDC1chr6127635961-FYNchr6112029223-0.0013709250.9986291
ENST00000531967ENST00000368678ECHDC1chr6127635961-FYNchr6112029223-0.0008687820.99913126
ENST00000454591ENST00000368682ECHDC1chr6127635960-FYNchr6112029223-0.0003551170.9996449
ENST00000454591ENST00000354650ECHDC1chr6127635960-FYNchr6112029223-0.000475530.9995245
ENST00000454591ENST00000229471ECHDC1chr6127635960-FYNchr6112029223-0.0010443060.9989557
ENST00000454591ENST00000368667ECHDC1chr6127635960-FYNchr6112029223-0.0011498640.9988501
ENST00000454591ENST00000368678ECHDC1chr6127635960-FYNchr6112029223-0.0007432530.9992568
ENST00000430841ENST00000368682ECHDC1chr6127635960-FYNchr6112029223-0.0008882790.9991117
ENST00000430841ENST00000354650ECHDC1chr6127635960-FYNchr6112029223-0.001017380.9989826
ENST00000430841ENST00000229471ECHDC1chr6127635960-FYNchr6112029223-0.0016828890.9983171
ENST00000430841ENST00000368667ECHDC1chr6127635960-FYNchr6112029223-0.0020889260.99791104
ENST00000430841ENST00000368678ECHDC1chr6127635960-FYNchr6112029223-0.0016670050.99833304
ENST00000531967ENST00000368682ECHDC1chr6127635960-FYNchr6112029223-0.0004445840.9995554
ENST00000531967ENST00000354650ECHDC1chr6127635960-FYNchr6112029223-0.0006214140.99937856
ENST00000531967ENST00000229471ECHDC1chr6127635960-FYNchr6112029223-0.0010112330.9989888
ENST00000531967ENST00000368667ECHDC1chr6127635960-FYNchr6112029223-0.0013709250.9986291
ENST00000531967ENST00000368678ECHDC1chr6127635960-FYNchr6112029223-0.0008687820.99913126

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 ECHDC1-FYN

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ECHDC1chr6127635960FYNchr61120292231019171LGGGAEFTTACDFREGDWWEARSLTT
ECHDC1chr6127635960FYNchr611202922350490LGGGAEFTTACDFREGDWWEARSLTT
ECHDC1chr6127635960FYNchr6112029223600181LGGGAEFTTACDFREGDWWEARSLTT
ECHDC1chr6127635961FYNchr61120292231019171LGGGAEFTTACDFREGDWWEARSLTT
ECHDC1chr6127635961FYNchr611202922350490LGGGAEFTTACDFREGDWWEARSLTT
ECHDC1chr6127635961FYNchr6112029223600181LGGGAEFTTACDFREGDWWEARSLTT

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Potential FusionNeoAntigen Information of ECHDC1-FYN 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.
ECHDC1-FYN_127635960_112029223.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)
ECHDC1-FYNchr6127635960chr6112029223600HLA-B39:06FREGDWWEA0.99520.93281221
ECHDC1-FYNchr6127635960chr6112029223600HLA-A33:01DFREGDWWEAR0.99850.91711122
ECHDC1-FYNchr6127635960chr6112029223600HLA-A33:05DFREGDWWEAR0.99850.91711122
ECHDC1-FYNchr6127635960chr6112029223600HLA-B73:01FREGDWWEA0.9580.9511221
ECHDC1-FYNchr6127635960chr6112029223600HLA-A33:03DFREGDWWEAR0.99220.82181122

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Potential FusionNeoAntigen Information of ECHDC1-FYN 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 ECHDC1-FYN

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
2595FTTACDFREGDWWEECHDC1FYNchr6127635960chr6112029223600

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ECHDC1-FYN

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-B14:023BVN2595FTTACDFREGDWWE-7.9962-8.1096
HLA-B14:023BVN2595FTTACDFREGDWWE-5.70842-6.74372
HLA-B52:013W392595FTTACDFREGDWWE-6.83737-6.95077
HLA-B52:013W392595FTTACDFREGDWWE-4.4836-5.5189
HLA-A11:014UQ22595FTTACDFREGDWWE-10.0067-10.1201
HLA-A11:014UQ22595FTTACDFREGDWWE-9.03915-10.0745
HLA-A24:025HGA2595FTTACDFREGDWWE-6.56204-6.67544
HLA-A24:025HGA2595FTTACDFREGDWWE-5.42271-6.45801
HLA-B44:053DX82595FTTACDFREGDWWE-7.85648-8.89178
HLA-B44:053DX82595FTTACDFREGDWWE-5.3978-5.5112
HLA-A02:016TDR2595FTTACDFREGDWWE-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of ECHDC1-FYN

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
ECHDC1-FYNchr6127635960chr61120292231122DFREGDWWEARTTTCAGGGAAGGAGATTGGTGGGAAGCCCGCTC
ECHDC1-FYNchr6127635960chr61120292231221FREGDWWEACAGGGAAGGAGATTGGTGGGAAGCCCG

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 ECHDC1-FYN

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
LUADECHDC1-FYNchr6127635960ENST00000430841chr6112029223ENST00000229471TCGA-97-8174

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Potential target of CAR-T therapy development for ECHDC1-FYN

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 ECHDC1-FYN

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 ECHDC1-FYN

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