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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:EIF2AK3-MBD2 (FusionGDB2 ID:HG9451TG8932)

Fusion Gene Summary for EIF2AK3-MBD2

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK3-MBD2
Fusion gene ID: hg9451tg8932
HgeneTgene
Gene symbol

EIF2AK3

MBD2

Gene ID

9451

8932

Gene nameeukaryotic translation initiation factor 2 alpha kinase 3methyl-CpG binding domain protein 2
SynonymsPEK|PERK|WRSDMTase|NY-CO-41
Cytomap('EIF2AK3')('MBD2')

2p11.2

18q21.2

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2-alpha kinase 3PRKR-like endoplasmic reticulum kinasepancreatic EIF2-alpha kinasetruncated eukaryotic translation initiation factor 2 alpha kinase 3methyl-CpG-binding domain protein 2demethylase
Modification date2020032020200313
UniProtAcc.

Q9UBB5

Ensembl transtripts involved in fusion geneENST00000303236, ENST00000419748, 
ENST00000470706, 
Fusion gene scores* DoF score6 X 7 X 4=16813 X 7 X 7=637
# samples 715
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/637*10)=-2.08633087176042
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2AK3 [Title/Abstract] AND MBD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2AK3(88913241)-MBD2(51715381), # samples:1
EIF2AK3(88913242)-MBD2(51715381), # samples:1
Anticipated loss of major functional domain due to fusion event.EIF2AK3-MBD2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EIF2AK3-MBD2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EIF2AK3-MBD2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
EIF2AK3-MBD2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneEIF2AK3

GO:0006983

ER overload response

10677345|11907036

HgeneEIF2AK3

GO:0030968

endoplasmic reticulum unfolded protein response

10677345|11907036|22169477

HgeneEIF2AK3

GO:0046777

protein autophosphorylation

10026192|11907036


check buttonFusion gene breakpoints across EIF2AK3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across MBD2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4STADTCGA-BR-8080-01AEIF2AK3chr2

88913242

-MBD2chr18

51715381

-
ChimerDB4STADTCGA-BR-8080EIF2AK3chr2

88913241

-MBD2chr18

51715381

-


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Fusion Gene ORF analysis for EIF2AK3-MBD2

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
5CDS-intronENST00000303236ENST00000398398EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5CDS-intronENST00000303236ENST00000398398EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
5CDS-intronENST00000303236ENST00000579025EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5CDS-intronENST00000303236ENST00000579025EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
5CDS-intronENST00000303236ENST00000583046EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5CDS-intronENST00000303236ENST00000583046EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
5UTR-3CDSENST00000419748ENST00000256429EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5UTR-3CDSENST00000419748ENST00000256429EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
5UTR-intronENST00000419748ENST00000398398EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5UTR-intronENST00000419748ENST00000398398EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
5UTR-intronENST00000419748ENST00000579025EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5UTR-intronENST00000419748ENST00000579025EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
5UTR-intronENST00000419748ENST00000583046EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
5UTR-intronENST00000419748ENST00000583046EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
In-frameENST00000303236ENST00000256429EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
In-frameENST00000303236ENST00000256429EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
intron-3CDSENST00000470706ENST00000256429EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
intron-3CDSENST00000470706ENST00000256429EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
intron-intronENST00000470706ENST00000398398EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
intron-intronENST00000470706ENST00000398398EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
intron-intronENST00000470706ENST00000579025EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
intron-intronENST00000470706ENST00000579025EIF2AK3chr2

88913241

-MBD2chr18

51715381

-
intron-intronENST00000470706ENST00000583046EIF2AK3chr2

88913242

-MBD2chr18

51715381

-
intron-intronENST00000470706ENST00000583046EIF2AK3chr2

88913241

-MBD2chr18

51715381

-

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)
ENST00000303236EIF2AK3chr288913241-ENST00000256429MBD2chr1851715381-38897402271273348
ENST00000303236EIF2AK3chr288913242-ENST00000256429MBD2chr1851715381-38897402271273348

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
ENST00000303236ENST00000256429EIF2AK3chr288913241-MBD2chr1851715381-0.0002761050.99972385
ENST00000303236ENST00000256429EIF2AK3chr288913242-MBD2chr1851715381-0.0002761050.99972385

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Fusion Genomic Features for EIF2AK3-MBD2


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.
genomic feature

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Fusion Protein Features for EIF2AK3-MBD2


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/chr2:88913241/chr18:51715381)
- 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
.MBD2

Q9UBB5

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters. {ECO:0000269|PubMed:10471499, ECO:0000269|PubMed:10947852, ECO:0000269|PubMed:12665568, ECO:0000269|PubMed:16415179, ECO:0000269|PubMed:24307175, ECO:0000269|PubMed:9774669}.

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
HgeneEIF2AK3chr2:88913241chr18:51715381ENST00000303236-21749_521461117.0Compositional biasNote=Poly-Ala
HgeneEIF2AK3chr2:88913242chr18:51715381ENST00000303236-21749_521461117.0Compositional biasNote=Poly-Ala
TgeneMBD2chr2:88913241chr18:51715381ENST000005830460350_960303.0Compositional biasNote=Arg-rich
TgeneMBD2chr2:88913241chr18:51715381ENST00000583046036_1400303.0Compositional biasNote=Gly-rich
TgeneMBD2chr2:88913242chr18:51715381ENST000005830460350_960303.0Compositional biasNote=Arg-rich
TgeneMBD2chr2:88913242chr18:51715381ENST00000583046036_1400303.0Compositional biasNote=Gly-rich
TgeneMBD2chr2:88913241chr18:51715381ENST0000058304603145_2130303.0DomainMBD
TgeneMBD2chr2:88913242chr18:51715381ENST0000058304603145_2130303.0DomainMBD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEIF2AK3chr2:88913241chr18:51715381ENST00000303236-217593_10771461117.0DomainProtein kinase
HgeneEIF2AK3chr2:88913242chr18:51715381ENST00000303236-217593_10771461117.0DomainProtein kinase
HgeneEIF2AK3chr2:88913241chr18:51715381ENST00000303236-217599_6071461117.0Nucleotide bindingATP
HgeneEIF2AK3chr2:88913242chr18:51715381ENST00000303236-217599_6071461117.0Nucleotide bindingATP
HgeneEIF2AK3chr2:88913241chr18:51715381ENST00000303236-21730_5141461117.0Topological domainLumenal
HgeneEIF2AK3chr2:88913241chr18:51715381ENST00000303236-217536_11161461117.0Topological domainCytoplasmic
HgeneEIF2AK3chr2:88913242chr18:51715381ENST00000303236-21730_5141461117.0Topological domainLumenal
HgeneEIF2AK3chr2:88913242chr18:51715381ENST00000303236-217536_11161461117.0Topological domainCytoplasmic
HgeneEIF2AK3chr2:88913241chr18:51715381ENST00000303236-217515_5351461117.0TransmembraneHelical
HgeneEIF2AK3chr2:88913242chr18:51715381ENST00000303236-217515_5351461117.0TransmembraneHelical
TgeneMBD2chr2:88913241chr18:51715381ENST000002564291750_962341015.6666666666666Compositional biasNote=Arg-rich
TgeneMBD2chr2:88913241chr18:51715381ENST00000256429176_1402341015.6666666666666Compositional biasNote=Gly-rich
TgeneMBD2chr2:88913242chr18:51715381ENST000002564291750_962341015.6666666666666Compositional biasNote=Arg-rich
TgeneMBD2chr2:88913242chr18:51715381ENST00000256429176_1402341015.6666666666666Compositional biasNote=Gly-rich
TgeneMBD2chr2:88913241chr18:51715381ENST0000025642917145_2132341015.6666666666666DomainMBD
TgeneMBD2chr2:88913242chr18:51715381ENST0000025642917145_2132341015.6666666666666DomainMBD


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Fusion Gene Sequence for EIF2AK3-MBD2


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.
>25669_25669_1_EIF2AK3-MBD2_EIF2AK3_chr2_88913241_ENST00000303236_MBD2_chr18_51715381_ENST00000256429_length(transcript)=3889nt_BP=740nt
GGAAAGTCCACCTTCCCCAACAAGGCCAGCCTGGGAACATGGAGTGGCAGCGGCCGCAGCCAATGAGAGAGCAAACGCGCGGAAAGTTTG
CTCAATGGGCGATGTCCGAGATAGGCTGTCACTCAGGTGGCAGCGGCAGAGGCCGGGCTGAGACGTGGCCAGGGGAACACGGCTGGCTGT
CCAGGCCGTCGGGGCGGCAGTAGGGTCCCTAGCACGTCCTTGCCTTCTTGGGAGCTCCAAGCGGCGGGAGAGGCAGGCGTCAGTGGCTGC
GCCTCCATGCCTGCGCGCGGGGCGGGACGCTGATGGAGCGCGCCATCAGCCCGGGGCTGCTGGTACGGGCGCTGCTGCTGCTGCTGCTGC
TGCTGGGGCTCGCGGCAAGGACGGTGGCCGCGGGGCGCGCCCGTGGCCTCCCAGCGCCGACGGCGGAGGCGGCGTTCGGCCTCGGGGCGG
CCGCTGCTCCCACCTCAGCGACGCGAGTACCGGCGGCGGGCGCCGTGGCTGCGGCCGAGGTGACTGTGGAGGACGCTGAGGCGCTGCCGG
CAGCCGCGGGAGAGCAGGAGCCTCGGGGTCCGGAACCAGACGATGAGACAGAGTTGCGACCGCGCGGCAGGTCATTAGTAATTATCAGCA
CTTTAGATGGGAGAATTGCTGCCTTGGATCCTGAAAATCATGGTAAAAAGCAGTGGGATTTGGATGTGGGATCCGGTTCCTTGGTGTCAT
CCAGCCTTAGCAAACCAGAGGGTAAACCAGACTTGAATACAACATTGCCAATTAGACAAACAGCATCAATTTTCAAACAACCGGTAACCA
AAGTCACAAATCATCCTAGTAATAAAGTGAAATCAGACCCACAACGAATGAATGAACAGCCACGTCAGCTTTTCTGGGAGAAGAGGCTAC
AAGGACTTAGTGCATCAGATGTAACAGAACAAATTATAAAAACCATGGAACTACCCAAAGGTCTTCAAGGAGTTGGTCCAGGTAGCAATG
ATGAGACCCTTTTATCTGCTGTTGCCAGTGCTTTGCACACAAGCTCTGCGCCAATCACAGGGCAAGTCTCCGCTGCTGTGGAAAAGAACC
CTGCTGTTTGGCTTAACACATCTCAACCCCTCTGCAAAGCTTTTATTGTCACAGATGAAGACATCAGGAAACAGGAAGAGCGAGTACAGC
AAGTACGCAAGAAATTGGAAGAAGCACTGATGGCAGACATCTTGTCGCGAGCTGCTGATACAGAAGAGATGGATATTGAAATGGACAGTG
GAGATGAAGCCTAAGAATATGATCAGGTAACTTTCGACCGACTTTCCCCAAGAGAAAATTCCTAGAAATTGAACAAAAATGTTTCCACTG
GCTTTTGCCTGTAAGAAAAAAAATGTACCCGAGCACATAGAGCTTTTTAATAGCACTAACCAATGCCTTTTTAGATGTATTTTTGATGTA
TATATCTATTATTCAAAAAATCATGTTTATTTTGAGTCCTAGGACTTAAAATTAGTCTTTTGTAATATCAAGCAGGACCCTAAGATGAAG
CTGAGCTTTTGATGCCAGGTGCAATCTACTGGAAATGTAGCACTTACGTAAAACATTTGTTTCCCCCACAGTTTTAATAAGAACAGATCA
GGAATTCTAAATAAATTTCCCAGTTAAAGATTATTGTGACTTCACTGTATATAAACATATTTTTATACTTTATTGAAAGGGGACACCTGT
ACATTCTTCCATCATCACTGTAAAGACAAATAAATGATTATATTCACAGACTGATTGGAATTCTTTCTGTTGAAAAGCACACACAATAAA
GAACCCCTCGTTAGCCTTCCTCTGATTTACATTCAACTCTGATCCCTGGGCCTTAGGTTTGACATGGAGGTGGAGGAAGATAGCGCATAT
ATTTGCAGTATGAACTATTGCCTCTGGACGTTGTGAGAATTGTGCTTTCACCAGAATTTCTAAGAATTTCTGCTAAATATCACCTAGCAT
GTGTAATTTTTTTTCCTTGCCTGTGACTTGGACTTTTGATAGTTCTATAAGAATAAGGCTTTTTCTTCCCTTGGGCATGAGTCAGATACA
CAAGGACCCTTCAGGTGTTACTAGAAGGCGTCCATGTTTATTGTTTTTTAAAGAATGTTTGGCACTCTCTAACGTCCACTAGCTTACTGA
GTTATCAGGTGCAGGTCAGACTCTTGGCTACAGTGAGAGGCAGCTTCTAGACAGAGTTGCTTAATGAAAGGGTTTGTAATACTTTACAAA
CCATTACCTGTACCTGGCCTGGCCTCCAAAATATTAACATTCTTTTTCTGTTGAAACTCGCGAGTGTAACTTTCATACCACTTGAATTTA
TTGATATTTAATTATGAAAACTAGCATTACATTATTAAACGATTTCTAAAATCAAAACATACTTAATCTGATACCAAGGAAGGGAGGGAG
TGGTTATAAGCAAATGAAAACAAATTTTGAGAGACAGAGCAAAAGTAAAATCATTCTATAGAAAAGGTGTGTTTATTTCTTAACTCTTGA
GTTCTTTTAAAATTAGAACCTAAATGATGCAGTCAGGGGTATGACCAATTCCACATGAGTGTCACCTGTACATTTTATTACCACTACCTC
CAGTTTCCAAGGCAGGGAAGAAGAGGGGAATAGTCAAAGCAATATGACTAGCTAGGTTTGGGCTGCTGTTTGGGCTGCTGTTTTTCCTGG
ACTTTTATGCCAAACTACATAAATACTTCTTGGAATTCCTGATTTACGCTCAACTTTGATCCCTGGACCCTAGGGCCATTAGTTTCCTTG
AAGCAGTCCTGCTGGTGGATGAGCAGGGAAACTTGTAGACCCTGGGAAGCCAATTGGTAGAGGGTGCCTGCCCGCCCCATCAGACTGTCC
CAACTGGGGTGGGGGTGAGGATCATAGTGATTTCTTTTTAAAAGCTAGTATGACTAGTGAGAATGGATGTCCAAGGGCTTTTCTCTTCCT
CCCCCGAGTCCACGATTCTTCATTTGTGATCAGGGTTGGGGTAACTTCACCTTGGTGATCATATATTCTTTTTACAAACCAATCCAGCCA
AGATATATGTGCTTTTCTAAACAGCTTGTAAAAGCAAAAACACAATGTATACACATATAAAACTGATTTTTTTTTTTTTGCTTATATACT
TTGCTCAGGTGGAGAACAAGGTATGAAAGCCATTATATGGTGTCCCTTGGGGACCATCCCATAAGTCCAGGGTGTTCCCAATATACCCAC
AAGACAACATGTTCAAAACTTCATCACCTGGTCCCCACAAACCTACCACCCTCTTCCATTCCCTCACTCTGGTAAAAGCAAGCCATCTTC
TCCAGTTACGCAAGGCAGAAGCCCAGGAGTGAGCACAATGCTGCCCTTTCCCTTGCTTCTGACTTCTCATCAATCCTATTAGAACTACTG
ACTGCACCCCACCTCTCCTCCATCCCCACGATCACTGCCTTCATATGAACTGCCTTTCCTGTCCTCTGGACTTTCAGTGGCTTCCTTTTT
TGCTCACCTGTCCACTTTCTTCCCCTTCCCTCTCTCCATCCCTCCACATAGTCATCAGAAAGATCATCAAAACAGGCAAATGTGACTGTA
TTATTTCCCTCACTTATCTTTGTATGCAGTTTAGAGTGATTTTTAAGAGCACACACTTTGAAATTAGGAGAACCTGTGTCTGAATCCTGA
TTTTTGCCATTTGTGTGACTTGTCAGGTTATTTAATCTCTTTGAGCCTGTCCCTCCTCAGTGAAATAGGAATAATAATACCTACCTCATA
GAGTTGTTGTGAGGATTCAGTGAGATAGACTGTTTCTAAAGTGTGTAGCACAGTGCCTGGCACATAGTGGGTGCTCACATTGGAGCACAC
TATTGTCGCTATCCCTGCA

>25669_25669_1_EIF2AK3-MBD2_EIF2AK3_chr2_88913241_ENST00000303236_MBD2_chr18_51715381_ENST00000256429_length(amino acids)=348AA_BP=171
MGAPSGGRGRRQWLRLHACARGGTLMERAISPGLLVRALLLLLLLLGLAARTVAAGRARGLPAPTAEAAFGLGAAAAPTSATRVPAAGAV
AAAEVTVEDAEALPAAAGEQEPRGPEPDDETELRPRGRSLVIISTLDGRIAALDPENHGKKQWDLDVGSGSLVSSSLSKPEGKPDLNTTL
PIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQIIKTMELPKGLQGVGPGSNDETLLSAVASALHTSS
APITGQVSAAVEKNPAVWLNTSQPLCKAFIVTDEDIRKQEERVQQVRKKLEEALMADILSRAADTEEMDIEMDSGDEA

--------------------------------------------------------------
>25669_25669_2_EIF2AK3-MBD2_EIF2AK3_chr2_88913242_ENST00000303236_MBD2_chr18_51715381_ENST00000256429_length(transcript)=3889nt_BP=740nt
GGAAAGTCCACCTTCCCCAACAAGGCCAGCCTGGGAACATGGAGTGGCAGCGGCCGCAGCCAATGAGAGAGCAAACGCGCGGAAAGTTTG
CTCAATGGGCGATGTCCGAGATAGGCTGTCACTCAGGTGGCAGCGGCAGAGGCCGGGCTGAGACGTGGCCAGGGGAACACGGCTGGCTGT
CCAGGCCGTCGGGGCGGCAGTAGGGTCCCTAGCACGTCCTTGCCTTCTTGGGAGCTCCAAGCGGCGGGAGAGGCAGGCGTCAGTGGCTGC
GCCTCCATGCCTGCGCGCGGGGCGGGACGCTGATGGAGCGCGCCATCAGCCCGGGGCTGCTGGTACGGGCGCTGCTGCTGCTGCTGCTGC
TGCTGGGGCTCGCGGCAAGGACGGTGGCCGCGGGGCGCGCCCGTGGCCTCCCAGCGCCGACGGCGGAGGCGGCGTTCGGCCTCGGGGCGG
CCGCTGCTCCCACCTCAGCGACGCGAGTACCGGCGGCGGGCGCCGTGGCTGCGGCCGAGGTGACTGTGGAGGACGCTGAGGCGCTGCCGG
CAGCCGCGGGAGAGCAGGAGCCTCGGGGTCCGGAACCAGACGATGAGACAGAGTTGCGACCGCGCGGCAGGTCATTAGTAATTATCAGCA
CTTTAGATGGGAGAATTGCTGCCTTGGATCCTGAAAATCATGGTAAAAAGCAGTGGGATTTGGATGTGGGATCCGGTTCCTTGGTGTCAT
CCAGCCTTAGCAAACCAGAGGGTAAACCAGACTTGAATACAACATTGCCAATTAGACAAACAGCATCAATTTTCAAACAACCGGTAACCA
AAGTCACAAATCATCCTAGTAATAAAGTGAAATCAGACCCACAACGAATGAATGAACAGCCACGTCAGCTTTTCTGGGAGAAGAGGCTAC
AAGGACTTAGTGCATCAGATGTAACAGAACAAATTATAAAAACCATGGAACTACCCAAAGGTCTTCAAGGAGTTGGTCCAGGTAGCAATG
ATGAGACCCTTTTATCTGCTGTTGCCAGTGCTTTGCACACAAGCTCTGCGCCAATCACAGGGCAAGTCTCCGCTGCTGTGGAAAAGAACC
CTGCTGTTTGGCTTAACACATCTCAACCCCTCTGCAAAGCTTTTATTGTCACAGATGAAGACATCAGGAAACAGGAAGAGCGAGTACAGC
AAGTACGCAAGAAATTGGAAGAAGCACTGATGGCAGACATCTTGTCGCGAGCTGCTGATACAGAAGAGATGGATATTGAAATGGACAGTG
GAGATGAAGCCTAAGAATATGATCAGGTAACTTTCGACCGACTTTCCCCAAGAGAAAATTCCTAGAAATTGAACAAAAATGTTTCCACTG
GCTTTTGCCTGTAAGAAAAAAAATGTACCCGAGCACATAGAGCTTTTTAATAGCACTAACCAATGCCTTTTTAGATGTATTTTTGATGTA
TATATCTATTATTCAAAAAATCATGTTTATTTTGAGTCCTAGGACTTAAAATTAGTCTTTTGTAATATCAAGCAGGACCCTAAGATGAAG
CTGAGCTTTTGATGCCAGGTGCAATCTACTGGAAATGTAGCACTTACGTAAAACATTTGTTTCCCCCACAGTTTTAATAAGAACAGATCA
GGAATTCTAAATAAATTTCCCAGTTAAAGATTATTGTGACTTCACTGTATATAAACATATTTTTATACTTTATTGAAAGGGGACACCTGT
ACATTCTTCCATCATCACTGTAAAGACAAATAAATGATTATATTCACAGACTGATTGGAATTCTTTCTGTTGAAAAGCACACACAATAAA
GAACCCCTCGTTAGCCTTCCTCTGATTTACATTCAACTCTGATCCCTGGGCCTTAGGTTTGACATGGAGGTGGAGGAAGATAGCGCATAT
ATTTGCAGTATGAACTATTGCCTCTGGACGTTGTGAGAATTGTGCTTTCACCAGAATTTCTAAGAATTTCTGCTAAATATCACCTAGCAT
GTGTAATTTTTTTTCCTTGCCTGTGACTTGGACTTTTGATAGTTCTATAAGAATAAGGCTTTTTCTTCCCTTGGGCATGAGTCAGATACA
CAAGGACCCTTCAGGTGTTACTAGAAGGCGTCCATGTTTATTGTTTTTTAAAGAATGTTTGGCACTCTCTAACGTCCACTAGCTTACTGA
GTTATCAGGTGCAGGTCAGACTCTTGGCTACAGTGAGAGGCAGCTTCTAGACAGAGTTGCTTAATGAAAGGGTTTGTAATACTTTACAAA
CCATTACCTGTACCTGGCCTGGCCTCCAAAATATTAACATTCTTTTTCTGTTGAAACTCGCGAGTGTAACTTTCATACCACTTGAATTTA
TTGATATTTAATTATGAAAACTAGCATTACATTATTAAACGATTTCTAAAATCAAAACATACTTAATCTGATACCAAGGAAGGGAGGGAG
TGGTTATAAGCAAATGAAAACAAATTTTGAGAGACAGAGCAAAAGTAAAATCATTCTATAGAAAAGGTGTGTTTATTTCTTAACTCTTGA
GTTCTTTTAAAATTAGAACCTAAATGATGCAGTCAGGGGTATGACCAATTCCACATGAGTGTCACCTGTACATTTTATTACCACTACCTC
CAGTTTCCAAGGCAGGGAAGAAGAGGGGAATAGTCAAAGCAATATGACTAGCTAGGTTTGGGCTGCTGTTTGGGCTGCTGTTTTTCCTGG
ACTTTTATGCCAAACTACATAAATACTTCTTGGAATTCCTGATTTACGCTCAACTTTGATCCCTGGACCCTAGGGCCATTAGTTTCCTTG
AAGCAGTCCTGCTGGTGGATGAGCAGGGAAACTTGTAGACCCTGGGAAGCCAATTGGTAGAGGGTGCCTGCCCGCCCCATCAGACTGTCC
CAACTGGGGTGGGGGTGAGGATCATAGTGATTTCTTTTTAAAAGCTAGTATGACTAGTGAGAATGGATGTCCAAGGGCTTTTCTCTTCCT
CCCCCGAGTCCACGATTCTTCATTTGTGATCAGGGTTGGGGTAACTTCACCTTGGTGATCATATATTCTTTTTACAAACCAATCCAGCCA
AGATATATGTGCTTTTCTAAACAGCTTGTAAAAGCAAAAACACAATGTATACACATATAAAACTGATTTTTTTTTTTTTGCTTATATACT
TTGCTCAGGTGGAGAACAAGGTATGAAAGCCATTATATGGTGTCCCTTGGGGACCATCCCATAAGTCCAGGGTGTTCCCAATATACCCAC
AAGACAACATGTTCAAAACTTCATCACCTGGTCCCCACAAACCTACCACCCTCTTCCATTCCCTCACTCTGGTAAAAGCAAGCCATCTTC
TCCAGTTACGCAAGGCAGAAGCCCAGGAGTGAGCACAATGCTGCCCTTTCCCTTGCTTCTGACTTCTCATCAATCCTATTAGAACTACTG
ACTGCACCCCACCTCTCCTCCATCCCCACGATCACTGCCTTCATATGAACTGCCTTTCCTGTCCTCTGGACTTTCAGTGGCTTCCTTTTT
TGCTCACCTGTCCACTTTCTTCCCCTTCCCTCTCTCCATCCCTCCACATAGTCATCAGAAAGATCATCAAAACAGGCAAATGTGACTGTA
TTATTTCCCTCACTTATCTTTGTATGCAGTTTAGAGTGATTTTTAAGAGCACACACTTTGAAATTAGGAGAACCTGTGTCTGAATCCTGA
TTTTTGCCATTTGTGTGACTTGTCAGGTTATTTAATCTCTTTGAGCCTGTCCCTCCTCAGTGAAATAGGAATAATAATACCTACCTCATA
GAGTTGTTGTGAGGATTCAGTGAGATAGACTGTTTCTAAAGTGTGTAGCACAGTGCCTGGCACATAGTGGGTGCTCACATTGGAGCACAC
TATTGTCGCTATCCCTGCA

>25669_25669_2_EIF2AK3-MBD2_EIF2AK3_chr2_88913242_ENST00000303236_MBD2_chr18_51715381_ENST00000256429_length(amino acids)=348AA_BP=171
MGAPSGGRGRRQWLRLHACARGGTLMERAISPGLLVRALLLLLLLLGLAARTVAAGRARGLPAPTAEAAFGLGAAAAPTSATRVPAAGAV
AAAEVTVEDAEALPAAAGEQEPRGPEPDDETELRPRGRSLVIISTLDGRIAALDPENHGKKQWDLDVGSGSLVSSSLSKPEGKPDLNTTL
PIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQIIKTMELPKGLQGVGPGSNDETLLSAVASALHTSS
APITGQVSAAVEKNPAVWLNTSQPLCKAFIVTDEDIRKQEERVQQVRKKLEEALMADILSRAADTEEMDIEMDSGDEA

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Fusion Gene PPI Analysis for EIF2AK3-MBD2


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 EIF2AK3-MBD2


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 EIF2AK3-MBD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK3C0432217Wolcott-Rallison syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneEIF2AK3C0038220Status Epilepticus1CTD_human
HgeneEIF2AK3C0038868Progressive supranuclear palsy1CTD_human
HgeneEIF2AK3C0151744Myocardial Ischemia1CTD_human
HgeneEIF2AK3C0270823Petit mal status1CTD_human
HgeneEIF2AK3C0311335Grand Mal Status Epilepticus1CTD_human
HgeneEIF2AK3C0393734Complex Partial Status Epilepticus1CTD_human
HgeneEIF2AK3C0751522Status Epilepticus, Subclinical1CTD_human
HgeneEIF2AK3C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneEIF2AK3C0751524Simple Partial Status Epilepticus1CTD_human
HgeneEIF2AK3C4551862Ophthalmoplegia, Progressive Supranuclear1CTD_human
HgeneEIF2AK3C4551863Supranuclear Palsy, Progressive, 11CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC2931456Prostate cancer, familial1CTD_human
TgeneC4722327PROSTATE CANCER, HEREDITARY, 11CTD_human