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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:TCOF1-EIF5A (FusionGDB2 ID:89235)

Fusion Gene Summary for TCOF1-EIF5A

check button Fusion gene summary
Fusion gene informationFusion gene name: TCOF1-EIF5A
Fusion gene ID: 89235
HgeneTgene
Gene symbol

TCOF1

EIF5A

Gene ID

6949

143244

Gene nametreacle ribosome biogenesis factor 1eukaryotic translation initiation factor 5A like 1
SynonymsMFD1|TCS|TCS1|treacleEIF5A|EIF5AP1|bA342M3.3|eIF-4D|eIF-5A|eIF-5A-1|eIF-5A1
Cytomap

5q32-q33.1

10q22.3

Type of geneprotein-codingprotein-coding
Descriptiontreacle proteinTreacher Collins syndrome proteinTreacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoproteineukaryotic translation initiation factor 5A-1-likeEukaryotic translation initiation factor 5A-1Rev-binding factoreukaryotic translation initiation factor 5A pseudogene 1
Modification date2020031320200313
UniProtAcc.

Q6IS14

Ensembl transtripts involved in fusion geneENST00000451292, ENST00000377797, 
ENST00000445265, ENST00000323668, 
ENST00000439160, ENST00000394269, 
ENST00000504761, ENST00000513346, 
ENST00000506063, 		ENST00000336452, 
ENST00000336458, ENST00000576930, 
ENST00000572815, ENST00000573542, 
ENST00000419711, ENST00000571955, 
ENST00000416016, 
Fusion gene scores* DoF score20 X 12 X 3=7209 X 5 X 8=360
# samples 219
** MAII scorelog2(21/720*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TCOF1 [Title/Abstract] AND EIF5A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTCOF1(149778618)-EIF5A(7213103), # 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

check buttonFusion gene breakpoints across TCOF1 (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 EIF5A (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
ChiTaRS5.0N/ABF883338TCOF1chr5

149778618

+EIF5Achr17

7213103

+


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Fusion Gene ORF analysis for TCOF1-EIF5A

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
3UTR-3CDSENST00000451292ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000451292ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000377797ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000445265ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000323668ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000439160ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000394269ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000504761ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
3UTR-3CDSENST00000513346ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000336452TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000336458TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000576930TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000572815TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000573542TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000419711TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000571955TCOF1chr5

149778618

+EIF5Achr17

7213103

+
intron-3CDSENST00000506063ENST00000416016TCOF1chr5

149778618

+EIF5Achr17

7213103

+

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 TCOF1-EIF5A


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)

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 TCOF1-EIF5A


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
.EIF5A

Q6IS14

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: mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By similarity). {ECO:0000250}.

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 TCOF1-EIF5A


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 TCOF1-EIF5A


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 TCOF1-EIF5A


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 TCOF1-EIF5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTCOF1C0265241Franceschetti-Klein syndrome7CLINGEN
HgeneTCOF1C0242387Mandibulofacial Dysostosis5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTCOF1C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneTCOF1C0376634Craniofacial Abnormalities1CTD_human
TgeneEIF5AC0007097Carcinoma1CTD_human
TgeneEIF5AC0022548Keloid1CTD_human
TgeneEIF5AC0024667Animal Mammary Neoplasms1CTD_human
TgeneEIF5AC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneEIF5AC0205696Anaplastic carcinoma1CTD_human
TgeneEIF5AC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneEIF5AC0205698Undifferentiated carcinoma1CTD_human
TgeneEIF5AC0205699Carcinomatosis1CTD_human
TgeneEIF5AC1257925Mammary Carcinoma, Animal1CTD_human