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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:JAK2-GLDC

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: JAK2-GLDC
FusionPDB ID: 40854
FusionGDB2.0 ID: 40854
HgeneTgene
Gene symbol

JAK2

GLDC

Gene ID

3717

2731

Gene nameJanus kinase 2glycine decarboxylase
SynonymsJTK10|THCYT3GCE|GCSP|HYGN1
Cytomap

9p24.1

9p24.1

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase)glycine dehydrogenase (decarboxylating), mitochondrialglycine cleavage system protein Pglycine decarboxylase P-proteinglycine dehydrogenase (aminomethyl-transferring)glycine dehydrogenase [decarboxylating], mitochondrialnonketotic hyperglycinemia
Modification date2020032920200320
UniProtAcc

O60674

Main function of 5'-partner protein: FUNCTION: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980). {ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:19783980, ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:21368206, ECO:0000269|PubMed:21423214, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:9618263}.

P23378

Main function of 5'-partner protein: FUNCTION: The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH). {ECO:0000269|PubMed:1993704, ECO:0000269|PubMed:1996985, ECO:0000269|PubMed:28244183}.
Ensembl transtripts involved in fusion geneENST idsENST00000381652, ENST00000539801, 
ENST00000487310, ENST00000544510, 
ENST00000460457, ENST00000321612, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 10 X 8=10402 X 1 X 2=4
# samples 113
** MAII scorelog2(11/1040*10)=-3.24100809950379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/4*10)=2.90689059560852
Fusion gene context

PubMed: JAK2 [Title/Abstract] AND GLDC [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: JAK2 [Title/Abstract] AND GLDC [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)JAK2(5029906)-GLDC(6565429), # samples:2
Anticipated loss of major functional domain due to fusion event.JAK2-GLDC 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.
JAK2-GLDC 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
HgeneJAK2

GO:0010811

positive regulation of cell-substrate adhesion

10925297

HgeneJAK2

GO:0019221

cytokine-mediated signaling pathway

8609418

HgeneJAK2

GO:0033209

tumor necrosis factor-mediated signaling pathway

8609418

HgeneJAK2

GO:0034612

response to tumor necrosis factor

8609418

HgeneJAK2

GO:0035409

histone H3-Y41 phosphorylation

19783980

HgeneJAK2

GO:0035722

interleukin-12-mediated signaling pathway

7528775

HgeneJAK2

GO:0046677

response to antibiotic

16280321

HgeneJAK2

GO:0050727

regulation of inflammatory response

10925297

HgeneJAK2

GO:0060396

growth hormone receptor signaling pathway

10925297

HgeneJAK2

GO:0070671

response to interleukin-12

7528775

TgeneGLDC

GO:0006546

glycine catabolic process

28244183



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/chr9:5029906/chr9:6565429)
- 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 JAK2 (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 GLDC (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)
ENST00000539801JAK2chr95029906+ENST00000321612GLDCchr96565429-22294631131675520
ENST00000381652JAK2chr95029906+ENST00000321612GLDCchr96565429-26108444942056520

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
ENST00000539801ENST00000321612JAK2chr95029906+GLDCchr96565429-0.0008052380.9991948
ENST00000381652ENST00000321612JAK2chr95029906+GLDCchr96565429-0.0011986090.99880135

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 JAK2-GLDC

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
JAK2chr95029906GLDCchr96565429463116IDESTRHNVLYRISGAQGEYAGLATI
JAK2chr95029906GLDCchr96565429844116IDESTRHNVLYRISGAQGEYAGLATI

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Potential FusionNeoAntigen Information of JAK2-GLDC 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.
JAK2-GLDC_5029906_6565429.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)
JAK2-GLDCchr95029906chr96565429844HLA-B15:01RISGAQGEY0.99870.95281120
JAK2-GLDCchr95029906chr96565429844HLA-B15:25RISGAQGEY0.99570.9751120
JAK2-GLDCchr95029906chr96565429844HLA-B27:05YRISGAQGEY0.99990.88631020
JAK2-GLDCchr95029906chr96565429844HLA-B27:02YRISGAQGEY0.99990.6941020
JAK2-GLDCchr95029906chr96565429844HLA-B27:04YRISGAQGEY0.99980.77751020
JAK2-GLDCchr95029906chr96565429844HLA-B15:03YRISGAQGEY0.97590.85611020
JAK2-GLDCchr95029906chr96565429844HLA-B15:18YRISGAQGEY0.95620.81181020
JAK2-GLDCchr95029906chr96565429844HLA-B15:07RISGAQGEY0.98740.84471120
JAK2-GLDCchr95029906chr96565429844HLA-B15:04RISGAQGEY0.85480.96841120
JAK2-GLDCchr95029906chr96565429844HLA-B15:05RISGAQGEY0.84010.92591120
JAK2-GLDCchr95029906chr96565429844HLA-B27:14YRISGAQGEY0.99980.80361020
JAK2-GLDCchr95029906chr96565429844HLA-B27:03YRISGAQGEY0.99890.89421020
JAK2-GLDCchr95029906chr96565429844HLA-C07:95YRISGAQGEY0.99730.68111020
JAK2-GLDCchr95029906chr96565429844HLA-C07:27YRISGAQGEY0.99720.94971020
JAK2-GLDCchr95029906chr96565429844HLA-C07:19YRISGAQGEY0.99640.76061020
JAK2-GLDCchr95029906chr96565429844HLA-C07:05YRISGAQGEY0.99610.95761020
JAK2-GLDCchr95029906chr96565429844HLA-C07:80YRISGAQGEY0.99380.95281020
JAK2-GLDCchr95029906chr96565429844HLA-C07:67YRISGAQGEY0.99380.95281020
JAK2-GLDCchr95029906chr96565429844HLA-C07:46YRISGAQGEY0.99240.90321020
JAK2-GLDCchr95029906chr96565429844HLA-C07:10YRISGAQGEY0.99230.96781020
JAK2-GLDCchr95029906chr96565429844HLA-B15:21YRISGAQGEY0.95290.93921020
JAK2-GLDCchr95029906chr96565429844HLA-C12:16YRISGAQGEY0.92450.96931020
JAK2-GLDCchr95029906chr96565429844HLA-B73:01YRISGAQGEYA0.99870.91171021
JAK2-GLDCchr95029906chr96565429844HLA-B15:34RISGAQGEY0.99870.95281120
JAK2-GLDCchr95029906chr96565429844HLA-B15:33RISGAQGEY0.99870.95281120
JAK2-GLDCchr95029906chr96565429844HLA-B15:27RISGAQGEY0.99870.95951120
JAK2-GLDCchr95029906chr96565429844HLA-B15:125RISGAQGEY0.99870.95281120
JAK2-GLDCchr95029906chr96565429844HLA-B15:135RISGAQGEY0.99860.95441120
JAK2-GLDCchr95029906chr96565429844HLA-B15:50RISGAQGEY0.99820.93041120
JAK2-GLDCchr95029906chr96565429844HLA-B15:12RISGAQGEY0.99750.92661120
JAK2-GLDCchr95029906chr96565429844HLA-B15:39RISGAQGEY0.99530.93471120
JAK2-GLDCchr95029906chr96565429844HLA-B15:35RISGAQGEY0.99230.95311120
JAK2-GLDCchr95029906chr96565429844HLA-B27:10YRISGAQGEY0.99980.88551020
JAK2-GLDCchr95029906chr96565429844HLA-B27:08YRISGAQGEY0.99980.79411020
JAK2-GLDCchr95029906chr96565429844HLA-C07:01YRISGAQGEY0.99760.65661020
JAK2-GLDCchr95029906chr96565429844HLA-C07:17YRISGAQGEY0.99560.96271020
JAK2-GLDCchr95029906chr96565429844HLA-C07:02YRISGAQGEY0.99380.95281020
JAK2-GLDCchr95029906chr96565429844HLA-C07:22YRISGAQGEY0.98740.73771020
JAK2-GLDCchr95029906chr96565429844HLA-C06:08YRISGAQGEY0.97750.99281020
JAK2-GLDCchr95029906chr96565429844HLA-B15:54YRISGAQGEY0.97140.91881020
JAK2-GLDCchr95029906chr96565429844HLA-B15:68YRISGAQGEY0.96320.7121020
JAK2-GLDCchr95029906chr96565429844HLA-C06:17YRISGAQGEY0.8740.99451020
JAK2-GLDCchr95029906chr96565429844HLA-C06:02YRISGAQGEY0.8740.99451020

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Potential FusionNeoAntigen Information of JAK2-GLDC 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.
JAK2-GLDC_5029906_6565429.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)
JAK2-GLDCchr95029906chr96565429844DRB1-0469NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0804RHNVLYRISGAQGEY520
JAK2-GLDCchr95029906chr96565429844DRB1-0828RHNVLYRISGAQGEY520
JAK2-GLDCchr95029906chr96565429844DRB1-0901NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0901HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-0902NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0902HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-0903NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0903HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-0904NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0904HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-0907NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0907HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-0908NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0908HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-0908RHNVLYRISGAQGEY520
JAK2-GLDCchr95029906chr96565429844DRB1-0909NVLYRISGAQGEYAG722
JAK2-GLDCchr95029906chr96565429844DRB1-0909HNVLYRISGAQGEYA621
JAK2-GLDCchr95029906chr96565429844DRB1-1167RHNVLYRISGAQGEY520
JAK2-GLDCchr95029906chr96565429844DRB1-1415RHNVLYRISGAQGEY520
JAK2-GLDCchr95029906chr96565429844DRB5-0112NVLYRISGAQGEYAG722

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Fusion breakpoint peptide structures of JAK2-GLDC

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
3441HNVLYRISGAQGEYJAK2GLDCchr95029906chr96565429844

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of JAK2-GLDC

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-B14:023BVN3441HNVLYRISGAQGEY-7.15543-7.26883
HLA-B14:023BVN3441HNVLYRISGAQGEY-4.77435-5.80965
HLA-B52:013W393441HNVLYRISGAQGEY-6.80875-6.92215
HLA-B52:013W393441HNVLYRISGAQGEY-4.20386-5.23916
HLA-A11:014UQ23441HNVLYRISGAQGEY-7.5194-8.5547
HLA-A11:014UQ23441HNVLYRISGAQGEY-6.9601-7.0735
HLA-A24:025HGA3441HNVLYRISGAQGEY-7.52403-7.63743
HLA-A24:025HGA3441HNVLYRISGAQGEY-5.82433-6.85963
HLA-B27:056PYJ3441HNVLYRISGAQGEY-3.28285-4.31815
HLA-B44:053DX83441HNVLYRISGAQGEY-5.91172-6.94702
HLA-B44:053DX83441HNVLYRISGAQGEY-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of JAK2-GLDC

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
JAK2-GLDCchr95029906chr965654291020YRISGAQGEYCAGAATAAGCGGAGCCCAGGGAGAATATGC
JAK2-GLDCchr95029906chr965654291021YRISGAQGEYACAGAATAAGCGGAGCCCAGGGAGAATATGCTGG
JAK2-GLDCchr95029906chr965654291120RISGAQGEYAATAAGCGGAGCCCAGGGAGAATATGC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
JAK2-GLDCchr95029906chr96565429520RHNVLYRISGAQGEYGCATAATGTACTCTACAGAATAAGCGGAGCCCAGGGAGAATATGC
JAK2-GLDCchr95029906chr96565429621HNVLYRISGAQGEYATAATGTACTCTACAGAATAAGCGGAGCCCAGGGAGAATATGCTGG
JAK2-GLDCchr95029906chr96565429722NVLYRISGAQGEYAGTGTACTCTACAGAATAAGCGGAGCCCAGGGAGAATATGCTGGACT

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Information of the samples that have these potential fusion neoantigens of JAK2-GLDC

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
HNSCJAK2-GLDCchr95029906ENST00000381652chr96565429ENST00000321612TCGA-HD-7229-01A

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Potential target of CAR-T therapy development for JAK2-GLDC

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 JAK2-GLDC

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 JAK2-GLDC

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
HgeneJAK2C0032463Polycythemia Vera12CTD_human;ORPHANET;UNIPROT
HgeneJAK2C0040028Thrombocythemia, Essential10CTD_human;ORPHANET
HgeneJAK2C0001815Primary Myelofibrosis9CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneJAK2C3489628Thrombocytosis, Autosomal Dominant8CTD_human
HgeneJAK2C0019154Hepatic Vein Thrombosis3CTD_human;ORPHANET
HgeneJAK2C0856761Budd-Chiari Syndrome3CTD_human;ORPHANET
HgeneJAK2C0009324Ulcerative Colitis2CTD_human
HgeneJAK2C0027022Myeloproliferative disease2CTD_human
HgeneJAK2C0151744Myocardial Ischemia2CTD_human
HgeneJAK2C0836924Thrombocytosis2CTD_human
HgeneJAK2C3281125THROMBOCYTHEMIA 32UNIPROT
HgeneJAK2C0000786Spontaneous abortion1CTD_human
HgeneJAK2C0000822Abortion, Tubal1CTD_human
HgeneJAK2C0006663Calcinosis1CTD_human
HgeneJAK2C0007873Uterine Cervical Neoplasm1CTD_human
HgeneJAK2C0018824Heart valve disease1CTD_human
HgeneJAK2C0019207Hepatoma, Morris1CTD_human
HgeneJAK2C0019208Hepatoma, Novikoff1CTD_human
HgeneJAK2C0021368Inflammation1CTD_human
HgeneJAK2C0023418leukemia1CTD_human
HgeneJAK2C0023467Leukemia, Myelocytic, Acute1CGI;CTD_human;UNIPROT
HgeneJAK2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneJAK2C0023904Liver Neoplasms, Experimental1CTD_human
HgeneJAK2C0025472Mesenteric Vascular Occlusion1CTD_human
HgeneJAK2C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneJAK2C0032461Polycythemia1CTD_human
HgeneJAK2C0032962Pregnancy Complications1CTD_human
HgeneJAK2C0033578Prostatic Neoplasms1CTD_human
HgeneJAK2C0040038Thromboembolism1CTD_human
HgeneJAK2C0042487Venous Thrombosis1CTD_human
HgeneJAK2C0086404Experimental Hepatoma1CTD_human
HgeneJAK2C0149871Deep Vein Thrombosis1CTD_human
HgeneJAK2C0263628Tumoral calcinosis1CTD_human
HgeneJAK2C0376358Malignant neoplasm of prostate1CTD_human
HgeneJAK2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneJAK2C0521174Microcalcification1CTD_human
HgeneJAK2C1527405Erythrocytosis1CTD_human
HgeneJAK2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneJAK2C3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneJAK2C3495676Anorectal Malformations1GENOMICS_ENGLAND
HgeneJAK2C3830362Early Pregnancy Loss1CTD_human
HgeneJAK2C4048328cervical cancer1CTD_human
HgeneJAK2C4303761Familial thrombocytosis1ORPHANET
HgeneJAK2C4552766Miscarriage1CTD_human