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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:ENC1-TBCD (FusionGDB2 ID:26519)

Fusion Gene Summary for ENC1-TBCD

check button Fusion gene summary
Fusion gene informationFusion gene name: ENC1-TBCD
Fusion gene ID: 26519
HgeneTgene
Gene symbol

ENC1

TBCD

Gene ID

8507

6904

Gene nameectodermal-neural cortex 1tubulin folding cofactor D
SynonymsCCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10PEBAT|SSD-1|tfcD
Cytomap

5q13.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB dotubulin-specific chaperone Dbeta-tubulin cofactor D
Modification date2020031320200313
UniProtAcc

O14682

.
Ensembl transtripts involved in fusion geneENST00000302351, ENST00000510316, 
ENST00000509284, ENST00000537006, 
ENST00000355528, ENST00000397466, 
ENST00000539345, ENST00000576691, 
Fusion gene scores* DoF score11 X 4 X 3=13219 X 22 X 13=5434
# samples 1028
** MAII scorelog2(10/132*10)=-0.400537929583729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/5434*10)=-4.27851583327701
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENC1 [Title/Abstract] AND TBCD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointENC1(73936131)-TBCD(80863811), # samples:1
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
HgeneENC1

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

HgeneENC1

GO:0016567

protein ubiquitination

15983046

HgeneENC1

GO:0017148

negative regulation of translation

19424503

TgeneTBCD

GO:0006457

protein folding

20740604

TgeneTBCD

GO:0007021

tubulin complex assembly

28158450

TgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

TgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604


check buttonFusion gene breakpoints across ENC1 (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 TBCD (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
ChimerDB4OVTCGA-24-1428ENC1chr5

73936131

-TBCDchr17

80863811

+


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Fusion Gene ORF analysis for ENC1-TBCD

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
5UTR-3CDSENST00000302351ENST00000355528ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000302351ENST00000397466ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000302351ENST00000539345ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-intronENST00000302351ENST00000576691ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000510316ENST00000355528ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000510316ENST00000397466ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000510316ENST00000539345ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-intronENST00000510316ENST00000576691ENC1chr5

73936131

-TBCDchr17

80863811

+
intron-3CDSENST00000509284ENST00000355528ENC1chr5

73936131

-TBCDchr17

80863811

+
intron-3CDSENST00000509284ENST00000397466ENC1chr5

73936131

-TBCDchr17

80863811

+
intron-3CDSENST00000509284ENST00000539345ENC1chr5

73936131

-TBCDchr17

80863811

+
intron-intronENST00000509284ENST00000576691ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000537006ENST00000355528ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000537006ENST00000397466ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-3CDSENST00000537006ENST00000539345ENC1chr5

73936131

-TBCDchr17

80863811

+
5UTR-intronENST00000537006ENST00000576691ENC1chr5

73936131

-TBCDchr17

80863811

+

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 ENC1-TBCD


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)
ENC1chr573936131-TBCDchr1780863811+0.099854710.9001453
ENC1chr573936131-TBCDchr1780863811+0.099854710.9001453

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 ENC1-TBCD


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
ENC1

O14682

.
FUNCTION: Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism. {ECO:0000269|PubMed:19424503}.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.

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 ENC1-TBCD


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 ENC1-TBCD


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 ENC1-TBCD


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 ENC1-TBCD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENC1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneTBCDC4310671ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTBCDC0025958Microcephaly2CTD_human
TgeneTBCDC0036572Seizures2CTD_human;GENOMICS_ENGLAND
TgeneTBCDC1956147Microlissencephaly2CTD_human
TgeneTBCDC3853041Severe Congenital Microcephaly2CTD_human
TgeneTBCDC0008073Developmental Disabilities1CTD_human
TgeneTBCDC0020796Profound Mental Retardation1CTD_human
TgeneTBCDC0022333Jacksonian Seizure1CTD_human
TgeneTBCDC0023944Locked-In Syndrome1CTD_human
TgeneTBCDC0025363Mental Retardation, Psychosocial1CTD_human
TgeneTBCDC0029124Optic Atrophy1CTD_human
TgeneTBCDC0034372Quadriplegia1CTD_human
TgeneTBCDC0035229Respiratory Insufficiency1CTD_human
TgeneTBCDC0037769West Syndrome1GENOMICS_ENGLAND
TgeneTBCDC0085996Child Development Deviations1CTD_human
TgeneTBCDC0085997Child Development Disorders, Specific1CTD_human
TgeneTBCDC0149958Complex partial seizures1CTD_human
TgeneTBCDC0151786Muscle Weakness1CTD_human
TgeneTBCDC0234533Generalized seizures1CTD_human
TgeneTBCDC0234535Clonic Seizures1CTD_human
TgeneTBCDC0235063Respiratory Depression1CTD_human
TgeneTBCDC0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneTBCDC0270790Quadriparesis1CTD_human
TgeneTBCDC0270824Visual seizure1CTD_human
TgeneTBCDC0270844Tonic Seizures1CTD_human
TgeneTBCDC0270846Epileptic drop attack1CTD_human
TgeneTBCDC0422850Seizures, Somatosensory1CTD_human
TgeneTBCDC0422852Seizures, Auditory1CTD_human
TgeneTBCDC0422853Olfactory seizure1CTD_human
TgeneTBCDC0422854Gustatory seizure1CTD_human
TgeneTBCDC0422855Vertiginous seizure1CTD_human
TgeneTBCDC0426970Spastic Quadriplegia1CTD_human
TgeneTBCDC0431380Cortical Dysplasia1CTD_human
TgeneTBCDC0494475Tonic - clonic seizures1CTD_human
TgeneTBCDC0524851Neurodegenerative Disorders1CTD_human
TgeneTBCDC0751056Non-epileptic convulsion1CTD_human
TgeneTBCDC0751110Single Seizure1CTD_human
TgeneTBCDC0751123Atonic Absence Seizures1CTD_human
TgeneTBCDC0751460Flaccid Quadriplegia1CTD_human
TgeneTBCDC0751461Paralysis, Spinal, Quadriplegic1CTD_human
TgeneTBCDC0751494Convulsive Seizures1CTD_human
TgeneTBCDC0751495Seizures, Focal1CTD_human
TgeneTBCDC0751496Seizures, Sensory1CTD_human
TgeneTBCDC0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneTBCDC0917816Mental deficiency1CTD_human
TgeneTBCDC1145670Respiratory Failure1CTD_human
TgeneTBCDC1955869Malformations of Cortical Development1CTD_human
TgeneTBCDC3495874Nonepileptic Seizures1CTD_human
TgeneTBCDC3714756Intellectual Disability1CTD_human
TgeneTBCDC4048158Convulsions1CTD_human
TgeneTBCDC4316903Absence Seizures1CTD_human
TgeneTBCDC4317109Epileptic Seizures1CTD_human
TgeneTBCDC4317123Myoclonic Seizures1CTD_human
TgeneTBCDC4505436Generalized Absence Seizures1CTD_human