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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:HOOK3-GTF2E2 (FusionGDB2 ID:37232)

Fusion Gene Summary for HOOK3-GTF2E2

check button Fusion gene summary
Fusion gene informationFusion gene name: HOOK3-GTF2E2
Fusion gene ID: 37232
HgeneTgene
Gene symbol

HOOK3

GTF2E2

Gene ID

84376

2961

Gene namehook microtubule tethering protein 3general transcription factor IIE subunit 2
SynonymsHK3FE|TF2E2|TFIIE-B|TTD6
Cytomap

8p11.21

8p12

Type of geneprotein-codingprotein-coding
Descriptionprotein Hook homolog 3h-hook3hHK3hook homolog 3transcription initiation factor IIE subunit betaTFIIE beta subunitTFIIE-betageneral transcription factor IIE, polypeptide 2, beta 34kDa
Modification date2020031320200313
UniProtAcc.

P29084

Ensembl transtripts involved in fusion geneENST00000307602, ENST00000524839, 
ENST00000355904, ENST00000522833, 
Fusion gene scores* DoF score16 X 13 X 9=187210 X 6 X 6=360
# samples 1911
** MAII scorelog2(19/1872*10)=-3.30050911125246
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HOOK3 [Title/Abstract] AND GTF2E2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHOOK3(42798588)-GTF2E2(30492640), # samples:3
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
TgeneGTF2E2

GO:0006366

transcription by RNA polymerase II

27193682


check buttonFusion gene breakpoints across HOOK3 (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 GTF2E2 (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
ChimerDB4STADTCGA-FP-8099-01AHOOK3chr8

42798588

+GTF2E2chr8

30492640

-
ChimerDB4STADTCGA-FP-8099-01AHOOK3chr8

42798588

+GTF2E2chr8

30492640

-
ChimerDB4STADTCGA-FP-8099-01AHOOK3chr8

42798588

-GTF2E2chr8

30492640

-


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Fusion Gene ORF analysis for HOOK3-GTF2E2

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
In-frameENST00000307602ENST00000355904HOOK3chr8

42798588

+GTF2E2chr8

30492640

-
5CDS-intronENST00000307602ENST00000522833HOOK3chr8

42798588

+GTF2E2chr8

30492640

-
intron-3CDSENST00000524839ENST00000355904HOOK3chr8

42798588

+GTF2E2chr8

30492640

-
intron-intronENST00000524839ENST00000522833HOOK3chr8

42798588

+GTF2E2chr8

30492640

-

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)
ENST00000307602HOOK3chr842798588+ENST00000355904GTF2E2chr830492640-19136001821309375

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
ENST00000307602ENST00000355904HOOK3chr842798588+GTF2E2chr830492640-0.0008281620.99917185

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Fusion Genomic Features for HOOK3-GTF2E2


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 HOOK3-GTF2E2


check button Go to

FGviewer for the breakpoints of chr8:42798588-chr8:30492640

.
- 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
.GTF2E2

P29084

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: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. {ECO:0000269|PubMed:1956398, ECO:0000269|PubMed:1956404}.

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
HgeneHOOK3chr8:42798588chr8:30492640ENST00000307602+52210_126133.33333333333334719.0DomainCalponin-homology (CH)
TgeneGTF2E2chr8:42798588chr8:30492640ENST0000035590418251_27155.333333333333336292.0Compositional biasNote=Arg/Lys-rich (basic)
TgeneGTF2E2chr8:42798588chr8:30492640ENST000003559041866_14655.333333333333336292.0DNA bindingTFIIE beta

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHOOK3chr8:42798588chr8:30492640ENST00000307602+522167_433133.33333333333334719.0Coiled coilOntology_term=ECO:0000255
HgeneHOOK3chr8:42798588chr8:30492640ENST00000307602+522462_667133.33333333333334719.0Coiled coilOntology_term=ECO:0000255
HgeneHOOK3chr8:42798588chr8:30492640ENST00000307602+522553_718133.33333333333334719.0RegionNote=Required for association with Golgi
TgeneGTF2E2chr8:42798588chr8:30492640ENST000003559041826_3655.333333333333336292.0Compositional biasNote=Poly-Ser
TgeneGTF2E2chr8:42798588chr8:30492640ENST000003559041837_4255.333333333333336292.0Compositional biasNote=Lys-rich (basic)


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Fusion Gene Sequence for HOOK3-GTF2E2


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.
>In-frame_ENST00000307602_ENST00000355904_TCGA-FP-8099-01A_HOOK3_chr8_42798588_+_GTF2E2_chr8_30492640_length(transcript)=1913nt_BP=600nt
CGGTCCCGAGTGAAAGGAGAAGGAGGGGCGCTGGGGGTGACGGTGCGGAGCCGCTGCCAGCGCTGGGCGAGAGTCGGCGGCCGGATCCGA
GGAGCAGGCGGGCCTGAGGCCGAGTCAGCTGCGCGGGCCCCCGGATCCCCCGACAGAGCGGCGGCGGTGTCTGGCCAGGCGGTAGGCGCT
GCCTGGCCGCGGCGGGGAAGATGTTCAGCGTAGAGTCGCTGGAGCGGGCGGAGCTGTGCGAGAGCCTCCTCACTTGGATCCAGACATTTA
ATGTGGATGCACCATGCCAGACCGTGGAAGATTTAACGAATGGGGTTGTGATGGCCCAGGTTCTTCAAAAGATAGATCCTGCATATTTTG
ATGAAAATTGGCTAAACAGAATCAAAACTGAAGTAGGAGATAATTGGAGGCTAAAGATAAGCAATTTAAAGAAAATTTTAAAAGGAATCT
TGGATTATAATCATGAGATTTTAGGACAGCAAATTAATGACTTTACCCTTCCTGATGTGAACCTTATTGGGGAGCATTCTGATGCAGCAG
AGCTTGGAAGGATGCTTCAGCTCATCTTAGGCTGTGCTGTGAACTGTGAACAGAAGCAAGATCATAGCAATGGATCATTTAACTTGAAAG
CTTTGTCAGGAAGCTCTGGATATAAGTTTGGTGTTCTTGCTAAGATTGTGAATTACATGAAGACACGGCATCAGCGAGGAGATACGCATC
CTCTAACCTTAGATGAAATTTTGGATGAAACACAACATTTAGATATTGGACTCAAGCAGAAACAATGGCTAATGACTGAGGCTTTAGTCA
ACAATCCCAAAATTGAAGTAATAGATGGGAAGTATGCTTTCAAGCCCAAGTACAACGTGAGAGATAAGAAGGCCCTACTTAGGCTCTTAG
ATCAGCATGACCAGCGAGGATTAGGAGGAATTCTTTTAGAAGACATAGAAGAAGCACTGCCCAATTCCCAGAAAGCTGTCAAGGCTTTGG
GGGACCAGATACTATTTGTAAATCGTCCCGATAAGAAGAAAATACTTTTCTTCAATGATAAGAGCTGTCAGTTTTCTGTGGATGAAGAAT
TTCAGAAACTGTGGAGGAGTGTCACTGTAGATTCCATGGACGAGGAGAAAATTGAAGAATATCTGAAGCGACAGGGTATTTCTTCCATGC
AGGAATCTGGACCAAAGAAAGTGGCCCCTATTCAGAGAAGGAAAAAGCCTGCTTCACAGAAAAAGCGACGCTTTAAGACTCATAACGAAC
ACTTGGCTGGAGTGCTGAAGGATTACTCTGACATTACTTCCAGCAAATAGGGAACAGTTTTGCCCTGGAACAGAGTTACAGATACACAAT
CAAGAGTGTTCTTGCTGATGCTCGGGGTCTGAAGACTGTCTTCCTATCTGCTTCTTGCGGCTGAGGAGAGGAGCAGTTCAGTTTACAAAA
CAAGTGCAAATTACCAAACTCAAAGCTTATTTGAGTAGAATGGGCTCATGGGCAATGTGATGTTCCCTGTTAACCTTCTGTTACTCCCTG
GGAGAAAGGCGCTGAGCGTGGCATGCAGGTGTCTTTGCTGTGTTTTTCTCCACTTCTAAATGGTTCCTGGTTCCTTTCTTCCTCGTTTGT
TACTTTAGAGCAAGTTTGCCCATAGTCTTGAATGCAATATTTGTTTATTCCAAAAGAACATATTTATAATAAAATCACTGTAGAAGGATT
TTTAAGATGTTAGTGAATTCTGTTTCTTTTCATTCTCGGAAATGGCAGGAAGCAGCTCCAGTCTCTGATTTCCATGGGTCACGTGCTGGG
GATGTGATGAAGCCTGCAGTCTGCACTGTGTTGCTGAGCACATGGATTTCACCACTGGAACACAGGTGTGCTGCTTGTTAGCAAGCAGAG

>In-frame_ENST00000307602_ENST00000355904_TCGA-FP-8099-01A_HOOK3_chr8_42798588_+_GTF2E2_chr8_30492640_length(amino acids)=375AA_start in transcript=182_stop in transcript=1309
MAAAGKMFSVESLERAELCESLLTWIQTFNVDAPCQTVEDLTNGVVMAQVLQKIDPAYFDENWLNRIKTEVGDNWRLKISNLKKILKGIL
DYNHEILGQQINDFTLPDVNLIGEHSDAAELGRMLQLILGCAVNCEQKQDHSNGSFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHP
LTLDEILDETQHLDIGLKQKQWLMTEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALG
DQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEH

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Fusion Gene PPI Analysis for HOOK3-GTF2E2


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 HOOK3-GTF2E2


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 HOOK3-GTF2E2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHOOK3C0032460Polycystic Ovary Syndrome1CTD_human
HgeneHOOK3C1136382Sclerocystic Ovaries1CTD_human
TgeneGTF2E2C1955934Trichothiodystrophy Syndromes1ORPHANET
TgeneGTF2E2C4310785TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE1CTD_human;GENOMICS_ENGLAND;UNIPROT