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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TBCD-FN3KRP (FusionGDB2 ID:88848)

Fusion Gene Summary for TBCD-FN3KRP

check button Fusion gene summary
Fusion gene informationFusion gene name: TBCD-FN3KRP
Fusion gene ID: 88848
HgeneTgene
Gene symbol

TBCD

FN3KRP

Gene ID

6904

79672

Gene nametubulin folding cofactor Dfructosamine 3 kinase related protein
SynonymsPEBAT|SSD-1|tfcDFN3KL
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptiontubulin-specific chaperone Dbeta-tubulin cofactor Dketosamine-3-kinaseFN3K-related proteinprotein-psicosamine 3-kinase FN3KRPtestis secretory sperm-binding protein Li 211a
Modification date2020031320200313
UniProtAcc.

Q9HA64

Ensembl transtripts involved in fusion geneENST00000355528, ENST00000397466, 
ENST00000539345, ENST00000576691, 
ENST00000269373, ENST00000535965, 
Fusion gene scores* DoF score20 X 23 X 13=59809 X 9 X 6=486
# samples 2712
** MAII scorelog2(27/5980*10)=-4.46911417203464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/486*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBCD [Title/Abstract] AND FN3KRP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBCD(80867183)-FN3KRP(80684709), # samples:1
TBCD(80772810)-FN3KRP(80678148), # samples:1
Anticipated loss of major functional domain due to fusion event.TBCD-FN3KRP seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
TBCD-FN3KRP seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
HgeneTBCD

GO:0006457

protein folding

20740604

HgeneTBCD

GO:0007021

tubulin complex assembly

28158450

HgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

HgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604


check buttonFusion gene breakpoints across TBCD (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 FN3KRP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-EW-A1OX-01ATBCDchr17

80867183

+FN3KRPchr17

80684709

+
ChimerDB4HNSCTCGA-CN-A63WTBCDchr17

80772810

+FN3KRPchr17

80678148

+


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Fusion Gene ORF analysis for TBCD-FN3KRP

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000355528ENST00000269373TBCDchr17

80867183

+FN3KRPchr17

80684709

+
Frame-shiftENST00000355528ENST00000535965TBCDchr17

80867183

+FN3KRPchr17

80684709

+
intron-3CDSENST00000397466ENST00000269373TBCDchr17

80867183

+FN3KRPchr17

80684709

+
intron-3CDSENST00000397466ENST00000535965TBCDchr17

80867183

+FN3KRPchr17

80684709

+
Frame-shiftENST00000539345ENST00000269373TBCDchr17

80867183

+FN3KRPchr17

80684709

+
Frame-shiftENST00000539345ENST00000535965TBCDchr17

80867183

+FN3KRPchr17

80684709

+
intron-3CDSENST00000576691ENST00000269373TBCDchr17

80867183

+FN3KRPchr17

80684709

+
intron-3CDSENST00000576691ENST00000535965TBCDchr17

80867183

+FN3KRPchr17

80684709

+
Frame-shiftENST00000355528ENST00000269373TBCDchr17

80772810

+FN3KRPchr17

80678148

+
Frame-shiftENST00000355528ENST00000535965TBCDchr17

80772810

+FN3KRPchr17

80678148

+
Frame-shiftENST00000397466ENST00000269373TBCDchr17

80772810

+FN3KRPchr17

80678148

+
Frame-shiftENST00000397466ENST00000535965TBCDchr17

80772810

+FN3KRPchr17

80678148

+
Frame-shiftENST00000539345ENST00000269373TBCDchr17

80772810

+FN3KRPchr17

80678148

+
Frame-shiftENST00000539345ENST00000535965TBCDchr17

80772810

+FN3KRPchr17

80678148

+
intron-3CDSENST00000576691ENST00000269373TBCDchr17

80772810

+FN3KRPchr17

80678148

+
intron-3CDSENST00000576691ENST00000535965TBCDchr17

80772810

+FN3KRPchr17

80678148

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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 Genomic Features for TBCD-FN3KRP


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
TBCDchr1780867183+FN3KRPchr1780684708+0.35226760.6477324
TBCDchr1780772810+FN3KRPchr1780678147+0.0018141560.9981858
TBCDchr1780867183+FN3KRPchr1780684708+0.35226760.6477324
TBCDchr1780772810+FN3KRPchr1780678147+0.0018141560.9981858

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for TBCD-FN3KRP


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.FN3KRP

Q9HA64

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Ketosamine-3-kinase involved in protein deglycation by mediating phosphorylation of ribuloselysine and psicoselysine on glycated proteins, to generate ribuloselysine-3 phosphate and psicoselysine-3 phosphate, respectively (PubMed:14633848, PubMed:15137908). Ribuloselysine-3 phosphate and psicoselysine-3 phosphate adducts are unstable and decompose under physiological conditions (PubMed:14633848, PubMed:15137908). Not able to phosphorylate fructoselysine (PubMed:14633848). {ECO:0000269|PubMed:14633848, ECO:0000269|PubMed:15137908}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for TBCD-FN3KRP


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for TBCD-FN3KRP


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for TBCD-FN3KRP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TBCD-FN3KRP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBCDC4310671ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneTBCDC0025958Microcephaly2CTD_human
HgeneTBCDC0036572Seizures2CTD_human;GENOMICS_ENGLAND
HgeneTBCDC1956147Microlissencephaly2CTD_human
HgeneTBCDC3853041Severe Congenital Microcephaly2CTD_human
HgeneTBCDC0008073Developmental Disabilities1CTD_human
HgeneTBCDC0020796Profound Mental Retardation1CTD_human
HgeneTBCDC0022333Jacksonian Seizure1CTD_human
HgeneTBCDC0023944Locked-In Syndrome1CTD_human
HgeneTBCDC0025363Mental Retardation, Psychosocial1CTD_human
HgeneTBCDC0029124Optic Atrophy1CTD_human
HgeneTBCDC0034372Quadriplegia1CTD_human
HgeneTBCDC0035229Respiratory Insufficiency1CTD_human
HgeneTBCDC0037769West Syndrome1GENOMICS_ENGLAND
HgeneTBCDC0085996Child Development Deviations1CTD_human
HgeneTBCDC0085997Child Development Disorders, Specific1CTD_human
HgeneTBCDC0149958Complex partial seizures1CTD_human
HgeneTBCDC0151786Muscle Weakness1CTD_human
HgeneTBCDC0234533Generalized seizures1CTD_human
HgeneTBCDC0234535Clonic Seizures1CTD_human
HgeneTBCDC0235063Respiratory Depression1CTD_human
HgeneTBCDC0270715Degenerative Diseases, Central Nervous System1CTD_human
HgeneTBCDC0270790Quadriparesis1CTD_human
HgeneTBCDC0270824Visual seizure1CTD_human
HgeneTBCDC0270844Tonic Seizures1CTD_human
HgeneTBCDC0270846Epileptic drop attack1CTD_human
HgeneTBCDC0422850Seizures, Somatosensory1CTD_human
HgeneTBCDC0422852Seizures, Auditory1CTD_human
HgeneTBCDC0422853Olfactory seizure1CTD_human
HgeneTBCDC0422854Gustatory seizure1CTD_human
HgeneTBCDC0422855Vertiginous seizure1CTD_human
HgeneTBCDC0426970Spastic Quadriplegia1CTD_human
HgeneTBCDC0431380Cortical Dysplasia1CTD_human
HgeneTBCDC0494475Tonic - clonic seizures1CTD_human
HgeneTBCDC0524851Neurodegenerative Disorders1CTD_human
HgeneTBCDC0751056Non-epileptic convulsion1CTD_human
HgeneTBCDC0751110Single Seizure1CTD_human
HgeneTBCDC0751123Atonic Absence Seizures1CTD_human
HgeneTBCDC0751460Flaccid Quadriplegia1CTD_human
HgeneTBCDC0751461Paralysis, Spinal, Quadriplegic1CTD_human
HgeneTBCDC0751494Convulsive Seizures1CTD_human
HgeneTBCDC0751495Seizures, Focal1CTD_human
HgeneTBCDC0751496Seizures, Sensory1CTD_human
HgeneTBCDC0751733Degenerative Diseases, Spinal Cord1CTD_human
HgeneTBCDC0917816Mental deficiency1CTD_human
HgeneTBCDC1145670Respiratory Failure1CTD_human
HgeneTBCDC1955869Malformations of Cortical Development1CTD_human
HgeneTBCDC3495874Nonepileptic Seizures1CTD_human
HgeneTBCDC3714756Intellectual Disability1CTD_human
HgeneTBCDC4048158Convulsions1CTD_human
HgeneTBCDC4316903Absence Seizures1CTD_human
HgeneTBCDC4317109Epileptic Seizures1CTD_human
HgeneTBCDC4317123Myoclonic Seizures1CTD_human
HgeneTBCDC4505436Generalized Absence Seizures1CTD_human