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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:FAM172A-PTGER4

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FAM172A-PTGER4
FusionPDB ID: 28714
FusionGDB2.0 ID: 28714
HgeneTgene
Gene symbol

FAM172A

PTGER4

Gene ID

83989

5734

Gene namefamily with sequence similarity 172 member Aprostaglandin E receptor 4
SynonymsC5orf21|ToupeeEP4|EP4R
Cytomap

5q15

5p13.1

Type of geneprotein-codingprotein-coding
Descriptioncotranscriptional regulator FAM172Aprotein FAM172Aprostaglandin E2 receptor EP4 subtypePGE receptor, EP4 subtypePGE2 receptor EP4 subtypeprostaglandin E receptor 4 (subtype EP4)prostanoid EP4 receptor
Modification date2020031320200313
UniProtAcc

Q8WUF8

Main function of 5'-partner protein: FUNCTION: Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface. May have hydrolase activity. {ECO:0000250|UniProtKB:Q3TNH5}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000395965, ENST00000505869, 
ENST00000509163, ENST00000509739, 
ENST00000504768, 
ENST00000514343, 
ENST00000302472, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 17 X 8=24481 X 1 X 1=1
# samples 231
** MAII scorelog2(23/2448*10)=-3.41189779174828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Fusion gene context

PubMed: FAM172A [Title/Abstract] AND PTGER4 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: FAM172A [Title/Abstract] AND PTGER4 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FAM172A(93217176)-PTGER4(40691881), # samples:1
Anticipated loss of major functional domain due to fusion event.FAM172A-PTGER4 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.
FAM172A-PTGER4 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.
FAM172A-PTGER4 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FAM172A-PTGER4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgenePTGER4

GO:0007188

adenylate cyclase-modulating G protein-coupled receptor signaling pathway

8163486

TgenePTGER4

GO:0033624

negative regulation of integrin activation

21681739

TgenePTGER4

GO:0050728

negative regulation of inflammatory response

16424369

TgenePTGER4

GO:2000420

negative regulation of eosinophil extravasation

21681739



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/chr5:93217176/chr5:40691881)
- 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 FAM172A (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 PTGER4 (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)
ENST00000509739FAM172Achr593217176-ENST00000302472PTGER4chr540691881+24194621171061314

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
ENST00000509739ENST00000302472FAM172Achr593217176-PTGER4chr540691881+0.0001858780.9998141

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 FAM172A-PTGER4

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
FAM172Achr593217176PTGER4chr540691881462115PQREKEMMQLYIRVRVFVNQLYQPSL

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Potential FusionNeoAntigen Information of FAM172A-PTGER4 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.
FAM172A-PTGER4_93217176_40691881.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)
FAM172A-PTGER4chr593217176chr540691881462HLA-A30:08RVRVFVNQL0.99280.78441221
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:01QLYIRVRVF0.96990.7306817
FAM172A-PTGER4chr593217176chr540691881462HLA-A02:21MQLYIRVRV0.92390.7408716
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:25QLYIRVRVF0.8980.7928817
FAM172A-PTGER4chr593217176chr540691881462HLA-A31:02MMQLYIRVR0.88960.5929615
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:02QLYIRVRVF0.8780.8034817
FAM172A-PTGER4chr593217176chr540691881462HLA-A32:13RVRVFVNQL0.81660.93051221
FAM172A-PTGER4chr593217176chr540691881462HLA-A32:13QLYIRVRVF0.7730.7711817
FAM172A-PTGER4chr593217176chr540691881462HLA-B52:01MQLYIRVRV0.10930.6748716
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:05RVRVFVNQLY0.9940.86191222
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:02RVRVFVNQLY0.99340.54371222
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:04RVRVFVNQLY0.98890.69111222
FAM172A-PTGER4chr593217176chr540691881462HLA-C07:80LYIRVRVF0.98890.7039917
FAM172A-PTGER4chr593217176chr540691881462HLA-C07:67LYIRVRVF0.98890.7039917
FAM172A-PTGER4chr593217176chr540691881462HLA-C07:10LYIRVRVF0.98660.7839917
FAM172A-PTGER4chr593217176chr540691881462HLA-A31:01MMQLYIRVR0.9620.5437615
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:04QLYIRVRVF0.95150.7418817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:04RVRVFVNQL0.7490.9471221
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:07RVRVFVNQLY0.99840.57431222
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:14RVRVFVNQLY0.99120.7731222
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:07MQLYIRVRVF0.98870.535717
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:03RVRVFVNQLY0.91120.87731222
FAM172A-PTGER4chr593217176chr540691881462HLA-C07:02LYIRVRVF0.98890.7039917
FAM172A-PTGER4chr593217176chr540691881462HLA-C14:02LYIRVRVF0.9580.8395917
FAM172A-PTGER4chr593217176chr540691881462HLA-C14:03LYIRVRVF0.9580.8395917
FAM172A-PTGER4chr593217176chr540691881462HLA-A30:01RVRVFVNQL0.99380.87611221
FAM172A-PTGER4chr593217176chr540691881462HLA-A32:01RVRVFVNQL0.97580.9631221
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:135QLYIRVRVF0.97470.7473817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:27QLYIRVRVF0.9730.7403817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:34QLYIRVRVF0.96990.7306817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:125QLYIRVRVF0.96990.7306817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:33QLYIRVRVF0.96990.7306817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:50QLYIRVRVF0.96970.7863817
FAM172A-PTGER4chr593217176chr540691881462HLA-A69:01EMMQLYIRV0.96570.6912514
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:24QLYIRVRVF0.95550.7401817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:35QLYIRVRVF0.95180.6259817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:12QLYIRVRVF0.9460.673817
FAM172A-PTGER4chr593217176chr540691881462HLA-A32:01QLYIRVRVF0.93520.8369817
FAM172A-PTGER4chr593217176chr540691881462HLA-A02:06MQLYIRVRV0.92390.7408716
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:39QLYIRVRVF0.90160.6384817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:13QLYIRVRVF0.78870.5285817
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:35RVRVFVNQLY0.99850.83471222
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:08RVRVFVNQLY0.9910.71691222
FAM172A-PTGER4chr593217176chr540691881462HLA-B27:10RVRVFVNQLY0.99050.84631222
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:68MQLYIRVRVF0.98940.5015717
FAM172A-PTGER4chr593217176chr540691881462HLA-B15:35MQLYIRVRVF0.98870.6776717
FAM172A-PTGER4chr593217176chr540691881462HLA-A30:01RVRVFVNQLY0.97980.71931222

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Potential FusionNeoAntigen Information of FAM172A-PTGER4 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.
FAM172A-PTGER4_93217176_40691881.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)
FAM172A-PTGER4chr593217176chr540691881462DRB1-1201YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1201LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1203YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1203LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1203IRVRVFVNQLYQPSL1126
FAM172A-PTGER4chr593217176chr540691881462DRB1-1204YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1205YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1205LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1206YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1206LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1207YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1207LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1208YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1208LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1209YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1210YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1210LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1211YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1211LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1212YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1214YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1214LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1217YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1217LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB1-1510YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1512YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1521YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1535YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB1-1537YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB5-0202YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB5-0202LYIRVRVFVNQLYQP924
FAM172A-PTGER4chr593217176chr540691881462DRB5-0205YIRVRVFVNQLYQPS1025
FAM172A-PTGER4chr593217176chr540691881462DRB5-0205LYIRVRVFVNQLYQP924

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Fusion breakpoint peptide structures of FAM172A-PTGER4

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
5963MMQLYIRVRVFVNQFAM172APTGER4chr593217176chr540691881462

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of FAM172A-PTGER4

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-B14:023BVN5963MMQLYIRVRVFVNQ-7.9962-8.1096
HLA-B14:023BVN5963MMQLYIRVRVFVNQ-5.70842-6.74372
HLA-B52:013W395963MMQLYIRVRVFVNQ-6.83737-6.95077
HLA-B52:013W395963MMQLYIRVRVFVNQ-4.4836-5.5189
HLA-A11:014UQ25963MMQLYIRVRVFVNQ-10.0067-10.1201
HLA-A11:014UQ25963MMQLYIRVRVFVNQ-9.03915-10.0745
HLA-A24:025HGA5963MMQLYIRVRVFVNQ-6.56204-6.67544
HLA-A24:025HGA5963MMQLYIRVRVFVNQ-5.42271-6.45801
HLA-B44:053DX85963MMQLYIRVRVFVNQ-7.85648-8.89178
HLA-B44:053DX85963MMQLYIRVRVFVNQ-5.3978-5.5112
HLA-A02:016TDR5963MMQLYIRVRVFVNQ-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of FAM172A-PTGER4

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
FAM172A-PTGER4chr593217176chr5406918811221RVRVFVNQLAGAGTGCGAGTATTCGTCAACCAGTTA
FAM172A-PTGER4chr593217176chr5406918811222RVRVFVNQLYAGAGTGCGAGTATTCGTCAACCAGTTATAT
FAM172A-PTGER4chr593217176chr540691881514EMMQLYIRVGAAATGATGCAATTGTATATCAGAGTG
FAM172A-PTGER4chr593217176chr540691881615MMQLYIRVRATGATGCAATTGTATATCAGAGTGCGA
FAM172A-PTGER4chr593217176chr540691881716MQLYIRVRVATGCAATTGTATATCAGAGTGCGAGTA
FAM172A-PTGER4chr593217176chr540691881717MQLYIRVRVFATGCAATTGTATATCAGAGTGCGAGTATTC
FAM172A-PTGER4chr593217176chr540691881817QLYIRVRVFCAATTGTATATCAGAGTGCGAGTATTC
FAM172A-PTGER4chr593217176chr540691881917LYIRVRVFTTGTATATCAGAGTGCGAGTATTC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
FAM172A-PTGER4chr593217176chr5406918811025YIRVRVFVNQLYQPSTATATCAGAGTGCGAGTATTCGTCAACCAGTTATATCAGCCAAGT
FAM172A-PTGER4chr593217176chr5406918811126IRVRVFVNQLYQPSLATCAGAGTGCGAGTATTCGTCAACCAGTTATATCAGCCAAGTTTG
FAM172A-PTGER4chr593217176chr540691881924LYIRVRVFVNQLYQPTTGTATATCAGAGTGCGAGTATTCGTCAACCAGTTATATCAGCCA

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Information of the samples that have these potential fusion neoantigens of FAM172A-PTGER4

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
STADFAM172A-PTGER4chr593217176ENST00000509739chr540691881ENST00000302472TCGA-BR-8365-01A

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Potential target of CAR-T therapy development for FAM172A-PTGER4

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
TgenePTGER4chr5:93217176chr5:40691881ENST0000030247213313_3320489.0TransmembraneHelical%3B Name%3D7

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 FAM172A-PTGER4

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 FAM172A-PTGER4

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