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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:EFTUD2-GFAP (FusionGDB2 ID:25394)

Fusion Gene Summary for EFTUD2-GFAP

check button Fusion gene summary
Fusion gene informationFusion gene name: EFTUD2-GFAP
Fusion gene ID: 25394
HgeneTgene
Gene symbol

EFTUD2

GFAP

Gene ID

9343

2670

Gene nameelongation factor Tu GTP binding domain containing 2glial fibrillary acidic protein
SynonymsMFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KDALXDRD
Cytomap

17q21.31

17q21.31

Type of geneprotein-codingprotein-coding
Description116 kDa U5 small nuclear ribonucleoprotein componentSNU114 homologU5 snRNP-specific protein, 116 kDaelongation factor Tu GTP-binding domain-containing protein 2hSNU114glial fibrillary acidic protein
Modification date2020031320200327
UniProtAcc

Q15029

P14136

Ensembl transtripts involved in fusion geneENST00000426333, ENST00000592576, 
ENST00000591382, ENST00000402521, 
ENST00000589211, 		ENST00000253408, 
ENST00000588735, ENST00000435360, 
ENST00000586793, ENST00000591327, 
Fusion gene scores* DoF score14 X 12 X 10=168025 X 63 X 5=7875
# samples 1551
** MAII scorelog2(15/1680*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(51/7875*10)=-3.94871077130315
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EFTUD2 [Title/Abstract] AND GFAP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEFTUD2(42953302)-GFAP(42991456), # samples:2
Anticipated loss of major functional domain due to fusion event.EFTUD2-GFAP 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
HgeneEFTUD2

GO:0000398

mRNA splicing, via spliceosome

28076346

TgeneGFAP

GO:0045109

intermediate filament organization

15732097


check buttonFusion gene breakpoints across EFTUD2 (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 GFAP (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
ChimerDB4KIRPTCGA-GL-A9DEEFTUD2chr17

42953302

-GFAPchr17

42991456

-
ChimerDB4KIRPTCGA-GL-A9DE-01AEFTUD2chr17

42953302

-GFAPchr17

42991456

-


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Fusion Gene ORF analysis for EFTUD2-GFAP

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-shiftENST00000426333ENST00000253408EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000426333ENST00000588735EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000426333ENST00000435360EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000426333ENST00000586793EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000426333ENST00000591327EFTUD2chr17

42953302

-GFAPchr17

42991456

-
Frame-shiftENST00000592576ENST00000253408EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000592576ENST00000588735EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000592576ENST00000435360EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000592576ENST00000586793EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000592576ENST00000591327EFTUD2chr17

42953302

-GFAPchr17

42991456

-
In-frameENST00000591382ENST00000253408EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000591382ENST00000588735EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000591382ENST00000435360EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000591382ENST00000586793EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000591382ENST00000591327EFTUD2chr17

42953302

-GFAPchr17

42991456

-
In-frameENST00000402521ENST00000253408EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000402521ENST00000588735EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000402521ENST00000435360EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000402521ENST00000586793EFTUD2chr17

42953302

-GFAPchr17

42991456

-
5CDS-intronENST00000402521ENST00000591327EFTUD2chr17

42953302

-GFAPchr17

42991456

-
intron-3CDSENST00000589211ENST00000253408EFTUD2chr17

42953302

-GFAPchr17

42991456

-
intron-intronENST00000589211ENST00000588735EFTUD2chr17

42953302

-GFAPchr17

42991456

-
intron-intronENST00000589211ENST00000435360EFTUD2chr17

42953302

-GFAPchr17

42991456

-
intron-intronENST00000589211ENST00000586793EFTUD2chr17

42953302

-GFAPchr17

42991456

-
intron-intronENST00000589211ENST00000591327EFTUD2chr17

42953302

-GFAPchr17

42991456

-

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 EFTUD2-GFAP


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 EFTUD2-GFAP


check button Go to

FGviewer for the breakpoints of chr17:42953302-chr17:42991456

.
- 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
EFTUD2

Q15029

GFAP

P14136

FUNCTION: Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). {ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30315277, ECO:0000269|PubMed:30705154}.FUNCTION: GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.

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
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000402521-927136_143254.66666666666666938.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000402521-927204_208254.66666666666666938.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000426333-1028136_143289.6666666666667973.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000426333-1028204_208289.6666666666667973.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000426333-1028258_261289.6666666666667973.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000591382-1028136_143289.6666666666667973.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000591382-1028204_208289.6666666666667973.0Nucleotide bindingGTP
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000591382-1028258_261289.6666666666667973.0Nucleotide bindingGTP
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809215_230153.66666666666666433.0RegionNote=Linker 12
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809231_252153.66666666666666433.0RegionNote=Coil 2A
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809253_256153.66666666666666433.0RegionNote=Linker 2
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809257_377153.66666666666666433.0RegionNote=Coil 2B
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809378_432153.66666666666666433.0RegionNote=Tail
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008215_230153.66666666666666432.0RegionNote=Linker 12
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008231_252153.66666666666666432.0RegionNote=Coil 2A
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008253_256153.66666666666666432.0RegionNote=Linker 2
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008257_377153.66666666666666432.0RegionNote=Coil 2B
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008378_432153.66666666666666432.0RegionNote=Tail
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307215_230153.66666666666666439.0RegionNote=Linker 12
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307231_252153.66666666666666439.0RegionNote=Coil 2A
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307253_256153.66666666666666439.0RegionNote=Linker 2
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307257_377153.66666666666666439.0RegionNote=Coil 2B
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307378_432153.66666666666666439.0RegionNote=Tail

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000402521-927127_409254.66666666666666938.0Domaintr-type G
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000426333-1028127_409289.6666666666667973.0Domaintr-type G
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000591382-1028127_409289.6666666666667973.0Domaintr-type G
HgeneEFTUD2chr17:42953302chr17:42991456ENST00000402521-927258_261254.66666666666666938.0Nucleotide bindingGTP
TgeneGFAPchr17:42953302chr17:42991456ENST000002534080969_377153.66666666666666433.0DomainIF rod
TgeneGFAPchr17:42953302chr17:42991456ENST000004353600869_377153.66666666666666432.0DomainIF rod
TgeneGFAPchr17:42953302chr17:42991456ENST000005867930769_377153.66666666666666439.0DomainIF rod
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809105_115153.66666666666666433.0RegionNote=Linker 1
TgeneGFAPchr17:42953302chr17:42991456ENST0000025340809116_214153.66666666666666433.0RegionNote=Coil 1B
TgeneGFAPchr17:42953302chr17:42991456ENST00000253408091_72153.66666666666666433.0RegionNote=Head
TgeneGFAPchr17:42953302chr17:42991456ENST000002534080973_104153.66666666666666433.0RegionNote=Coil 1A
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008105_115153.66666666666666432.0RegionNote=Linker 1
TgeneGFAPchr17:42953302chr17:42991456ENST0000043536008116_214153.66666666666666432.0RegionNote=Coil 1B
TgeneGFAPchr17:42953302chr17:42991456ENST00000435360081_72153.66666666666666432.0RegionNote=Head
TgeneGFAPchr17:42953302chr17:42991456ENST000004353600873_104153.66666666666666432.0RegionNote=Coil 1A
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307105_115153.66666666666666439.0RegionNote=Linker 1
TgeneGFAPchr17:42953302chr17:42991456ENST0000058679307116_214153.66666666666666439.0RegionNote=Coil 1B
TgeneGFAPchr17:42953302chr17:42991456ENST00000586793071_72153.66666666666666439.0RegionNote=Head
TgeneGFAPchr17:42953302chr17:42991456ENST000005867930773_104153.66666666666666439.0RegionNote=Coil 1A


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Fusion Gene Sequence for EFTUD2-GFAP


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 EFTUD2-GFAP


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 EFTUD2-GFAP


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 EFTUD2-GFAP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFTUD2C1864652Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneEFTUD2C0152423Congenital small ears1GENOMICS_ENGLAND
TgeneGFAPC0270726Alexander Disease30CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGFAPC0011570Mental Depression3PSYGENET
TgeneGFAPC0011581Depressive disorder3PSYGENET
TgeneGFAPC0027765nervous system disorder3CTD_human
TgeneGFAPC0005586Bipolar Disorder2PSYGENET
TgeneGFAPC0036341Schizophrenia2PSYGENET
TgeneGFAPC0041696Unipolar Depression2PSYGENET
TgeneGFAPC1269683Major Depressive Disorder2PSYGENET
TgeneGFAPC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneGFAPC0002736Amyotrophic Lateral Sclerosis1CTD_human
TgeneGFAPC0014544Epilepsy1CTD_human
TgeneGFAPC0017639Gliosis1CTD_human
TgeneGFAPC0020429Hyperalgesia1CTD_human
TgeneGFAPC0027873Neuromyelitis Optica1CTD_human
TgeneGFAPC0030567Parkinson Disease1CTD_human
TgeneGFAPC0036572Seizures1GENOMICS_ENGLAND
TgeneGFAPC0037917Spina Bifida Cystica1CTD_human
TgeneGFAPC0040997Trigeminal Neuralgia1CTD_human
TgeneGFAPC0086237Epilepsy, Cryptogenic1CTD_human
TgeneGFAPC0236018Aura1CTD_human
TgeneGFAPC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
TgeneGFAPC0393786Trigeminal Neuralgia, Idiopathic1CTD_human
TgeneGFAPC0393787Secondary Trigeminal Neuralgia1CTD_human
TgeneGFAPC0458247Allodynia1CTD_human
TgeneGFAPC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
TgeneGFAPC0751111Awakening Epilepsy1CTD_human
TgeneGFAPC0751211Hyperalgesia, Primary1CTD_human
TgeneGFAPC0751212Hyperalgesia, Secondary1CTD_human
TgeneGFAPC0751213Tactile Allodynia1CTD_human
TgeneGFAPC0751214Hyperalgesia, Thermal1CTD_human
TgeneGFAPC0752347Lewy Body Disease1CTD_human
TgeneGFAPC0917813Spina Bifida, Open1CTD_human
TgeneGFAPC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneGFAPC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgeneGFAPC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgeneGFAPC2936719Mechanical Allodynia1CTD_human
TgeneGFAPC3887640Astrocytosis1CTD_human
TgeneGFAPC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
TgeneGFAPC4721453Peripheral Nervous System Diseases1CTD_human