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Center for Computational Systems Medicine level3
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Potential Active Site Information

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Potentially Interacting Small Molecules through Virtual Screening

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Biochemical Features of Small Molecules with ADME

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Drug Toxicity Information

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:JMJD1C-TSN

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: JMJD1C-TSN
FusionPDB ID: 40985
FusionGDB2.0 ID: 40985
HgeneTgene
Gene symbol

JMJD1C

TSN

Gene ID

221037

7247

Gene namejumonji domain containing 1Ctranslin
SynonymsKDM3C|TRIP-8|TRIP8BCLF-1|C3PO|RCHF1|REHF-1|TBRBP|TRSLN
Cytomap

10q21.3

2q14.3

Type of geneprotein-codingprotein-coding
Descriptionprobable JmjC domain-containing histone demethylation protein 2CTR-interacting protein 8thyroid hormone receptor interactor 8thyroid receptor-interacting protein 8translincomponent 3 of promoter of RISCrecombination hotspot associated factorrecombination hotspot-binding proteintestis brain-RNA binding protein
Modification date2020031320200313
UniProtAcc

Q15652

Q15631

Ensembl transtripts involved in fusion geneENST idsENST00000399262, ENST00000399251, 
ENST00000489372, ENST00000542921, 
ENST00000402544, 
ENST00000409193, 
ENST00000498545, ENST00000536142, 
ENST00000389682, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score29 X 18 X 10=52207 X 8 X 2=112
# samples 317
** MAII scorelog2(31/5220*10)=-4.07370968618301
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/112*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: JMJD1C [Title/Abstract] AND TSN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across JMJD1C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TSN (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerKB3..JMJD1Cchr10

65024410

-TSNchr2

122514814

+
ChimerKB3..JMJD1Cchr10

65024411

-TSNchr2

122514814

+
ChimerKB3..JMJD1Cchr10

65140077

-TSNchr2

122514815

+


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Fusion ORF Analysis


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)
ENST00000399262JMJD1Cchr1065024410-ENST00000389682TSNchr2122514814+37736661831286367
ENST00000399262JMJD1Cchr1065024411-ENST00000389682TSNchr2122514814+37736661831286367
ENST00000399262JMJD1Cchr1065140077-ENST00000389682TSNchr2122514815+36595521831172329

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

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>40985_40985_1_JMJD1C-TSN_JMJD1C_chr10_65024410_ENST00000399262_TSN_chr2_122514814_ENST00000389682_length(amino acids)=367AA_BP=161
MEEAAAASAATAMAVETRAELVGKRFLCVAVGDEARSERWESGRGWRSWRAGVIRAVSHRDSRNPDLAVYVEFDDLEWDKREWVKVYEDF
STFLVEYHLIWAKRNDPSQTQGSKSKQIQWPALTFKPLVERNIPSSVTAVEFLVDKQLDFLTEDSAFQPYQEIRKVVQSLEQTAREILTL
LQGVHQGAGFQDIPKRCLKAREHFGTVKTHLTSLKTKFPAEQYYRFHEHWRFVLQRLVFLAAFVVYLETETLVTREAVTEILGIEPDREK
GFHLDVEDYLSGVLILASELSRLSVNSVTAGDYSRPLHISTFINELDSGFRLLNLKNDSLRKRYDGLKYDVKKVEEVVYDLSIRGFNKET

--------------------------------------------------------------

>40985_40985_2_JMJD1C-TSN_JMJD1C_chr10_65024411_ENST00000399262_TSN_chr2_122514814_ENST00000389682_length(amino acids)=367AA_BP=161
MEEAAAASAATAMAVETRAELVGKRFLCVAVGDEARSERWESGRGWRSWRAGVIRAVSHRDSRNPDLAVYVEFDDLEWDKREWVKVYEDF
STFLVEYHLIWAKRNDPSQTQGSKSKQIQWPALTFKPLVERNIPSSVTAVEFLVDKQLDFLTEDSAFQPYQEIRKVVQSLEQTAREILTL
LQGVHQGAGFQDIPKRCLKAREHFGTVKTHLTSLKTKFPAEQYYRFHEHWRFVLQRLVFLAAFVVYLETETLVTREAVTEILGIEPDREK
GFHLDVEDYLSGVLILASELSRLSVNSVTAGDYSRPLHISTFINELDSGFRLLNLKNDSLRKRYDGLKYDVKKVEEVVYDLSIRGFNKET

--------------------------------------------------------------

>40985_40985_3_JMJD1C-TSN_JMJD1C_chr10_65140077_ENST00000399262_TSN_chr2_122514815_ENST00000389682_length(amino acids)=329AA_BP=123
MEEAAAASAATAMAVETRAELVGKRFLCVAVGDEARSERWESGRGWRSWRAGVIRAVSHRDSRNPDLAVYVEFDDLEWDKREWVKVYEDF
STFLVEYHLIWAKRNDPSQTQGSKSKQIQWPALEIRKVVQSLEQTAREILTLLQGVHQGAGFQDIPKRCLKAREHFGTVKTHLTSLKTKF
PAEQYYRFHEHWRFVLQRLVFLAAFVVYLETETLVTREAVTEILGIEPDREKGFHLDVEDYLSGVLILASELSRLSVNSVTAGDYSRPLH

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr10:/chr2:)
- 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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JMJD1C

Q15652

TSN

Q15631

FUNCTION: Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity). {ECO:0000250}.FUNCTION: DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots.; FUNCTION: Exhibits both single-stranded and double-stranded endoribonuclease activity. May act as an activator of RNA-induced silencing complex (RISC) by facilitating endonucleolytic cleavage of the siRNA passenger strand.

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, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file (89) >>>89.pdbFusion protein BP residue: 123
CIF file (89) >>>89.cif
JMJD1Cchr1065140077-TSNchr2122514815+
MEEAAAASAATAMAVETRAELVGKRFLCVAVGDEARSERWESGRGWRSWR
AGVIRAVSHRDSRNPDLAVYVEFDDLEWDKREWVKVYEDFSTFLVEYHLI
WAKRNDPSQTQGSKSKQIQWPALEIRKVVQSLEQTAREILTLLQGVHQGA
GFQDIPKRCLKAREHFGTVKTHLTSLKTKFPAEQYYRFHEHWRFVLQRLV
FLAAFVVYLETETLVTREAVTEILGIEPDREKGFHLDVEDYLSGVLILAS
ELSRLSVNSVTAGDYSRPLHISTFINELDSGFRLLNLKNDSLRKRYDGLK
329
3D view using mol* of 89 (AA BP:123)
PDB file (120) >>>120.pdbFusion protein BP residue: 161
CIF file (120) >>>120.cif
JMJD1Cchr1065024410-TSNchr2122514814+
MEEAAAASAATAMAVETRAELVGKRFLCVAVGDEARSERWESGRGWRSWR
AGVIRAVSHRDSRNPDLAVYVEFDDLEWDKREWVKVYEDFSTFLVEYHLI
WAKRNDPSQTQGSKSKQIQWPALTFKPLVERNIPSSVTAVEFLVDKQLDF
LTEDSAFQPYQEIRKVVQSLEQTAREILTLLQGVHQGAGFQDIPKRCLKA
REHFGTVKTHLTSLKTKFPAEQYYRFHEHWRFVLQRLVFLAAFVVYLETE
TLVTREAVTEILGIEPDREKGFHLDVEDYLSGVLILASELSRLSVNSVTA
GDYSRPLHISTFINELDSGFRLLNLKNDSLRKRYDGLKYDVKKVEEVVYD
367
3D view using mol* of 120 (AA BP:161)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
JMJD1C_pLDDT.png
all structure
all structure
TSN_pLDDT.png
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
JMJD1C_TSN_89_PAE.png (AA BP:123)
all structure
JMJD1C_TSN_89_pLDDT.png (AA BP:123)
all structure
JMJD1C_TSN_89_pLDDT_and_active_sites.png (AA BP:123)
all structure
JMJD1C_TSN_89_violinplot.png (AA BP:123)
all structure
JMJD1C_TSN_120_PAE.png (AA BP:161)
all structure
JMJD1C_TSN_120_pLDDT.png (AA BP:161)
all structure
JMJD1C_TSN_120_pLDDT_and_active_sites.png (AA BP:161)
all structure
JMJD1C_TSN_120_violinplot.png (AA BP:161)
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots
JMJD1C_TSN_89.png
all structure
JMJD1C_TSN_120.png
all structure

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Potential Active Site Information


check button The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite.
Fusion AA seq ID in FusionPDBSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
890.682240.67766.5420.7110.6180.8921.6190.4733.4242.186Chain A: 118,120,121,180,181,184,188
1200.803510.819159.4950.7050.610.6590.4430.670.6613.535Chain A: 94,97,98,100,124,125,126,127,130,133,135,
137,138,139,153,157,159

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Potentially Interacting Small Molecules through Virtual Screening


check button The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide.
Fusion AA seq ID in FusionPDBZINC IDDrugBank IDDrug nameDocking scoreGlide gscore

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check button Drug information from DrugBank of the top 20 interacting small molecules.
ZINC IDDrugBank IDDrug nameDrug typeSMILESDrug group

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Biochemical Features of Small Molecules


check button ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9)
ZINC IDmol_MWdipoleSASAFOSAFISAPISAWPSAvolumedonorHBaccptHBIPHuman Oral AbsorptionPercent Human Oral AbsorptionRule Of FiveRule Of Three


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Drug Toxicity Information


check button Toxicity information of individual drugs using eToxPred
ZINC IDSmileSurface AccessibilityToxicity


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors
JMJD1CVHL, Thrb, ESR2, PPARG, NUDT21, TK1, GADD45A, AR, RNF8, RNF168, MT2A, PSMC1, SRPK2, RBPJ, NR3C1, TXNIP, HNRNPL, EGLN3, CBFA2T3, RNF4, SOX2, Nav2, HIST1H3A, GOLGA2, TP53BP1, KIAA1429, MYC, HDAC2, XRCC6, FBXO38, HIST1H4A, RHBDD1, HCVgp1, SMC2, MYOM2, ALG13, CNOT2, RQCD1, PARN, SMG7, SUPT5H, RPN1, vpr, TRIM37, QPRT, CCNF, BCOR, KLF3, NKX2-5,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
JMJD1Call structure
TSNall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to JMJD1C-TSN


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 JMJD1C-TSN


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
HgeneJMJD1CC0004352Autistic Disorder1CTD_human
HgeneJMJD1CC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneJMJD1CC0012236DiGeorge Syndrome1ORPHANET
HgeneJMJD1CC0087031Juvenile-Onset Still Disease1CTD_human
HgeneJMJD1CC0220704Shprintzen syndrome1ORPHANET
HgeneJMJD1CC0431406Asymmetric crying face association1ORPHANET
HgeneJMJD1CC0795907CONOTRUNCAL ANOMALY FACE SYNDROME1ORPHANET
HgeneJMJD1CC1333813Central Nervous System Germinoma1ORPHANET
HgeneJMJD1CC293634622q11 Deletion Syndrome1ORPHANET
HgeneJMJD1CC326610122q11 partial monosomy syndrome1ORPHANET
HgeneJMJD1CC3495559Juvenile arthritis1CTD_human
HgeneJMJD1CC3714758Juvenile psoriatic arthritis1CTD_human
HgeneJMJD1CC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneJMJD1CC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human