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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:TET3-DGUOK (FusionGDB2 ID:89558)

Fusion Gene Summary for TET3-DGUOK

check button Fusion gene summary
Fusion gene informationFusion gene name: TET3-DGUOK
Fusion gene ID: 89558
HgeneTgene
Gene symbol

TET3

DGUOK

Gene ID

200424

1716

Gene nametet methylcytosine dioxygenase 3deoxyguanosine kinase
SynonymsBEFAHRS|hCG_40738MTDPS3|NCPH|PEOB4|dGK
Cytomap

2p13.1

2p13.1

Type of geneprotein-codingprotein-coding
Descriptionmethylcytosine dioxygenase TET3probable methylcytosine dioxygenase TET3putative methylcytosine dioxygenasetet oncogene family member 3deoxyguanosine kinase, mitochondrial
Modification date2020031420200313
UniProtAcc.

Q16854

Ensembl transtripts involved in fusion geneENST00000409262, ENST00000264093, 
ENST00000348222, ENST00000462685, 
ENST00000356837, 
Fusion gene scores* DoF score17 X 13 X 11=24315 X 5 X 3=75
# samples 266
** MAII scorelog2(26/2431*10)=-3.22496636500027
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TET3 [Title/Abstract] AND DGUOK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTET3(74317174)-DGUOK(74184252), # samples:2
TET3(74230293)-DGUOK(74173846), # samples:2
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
TgeneDGUOK

GO:0046122

purine deoxyribonucleoside metabolic process

8706825


check buttonFusion gene breakpoints across TET3 (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 DGUOK (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
ChimerDB4BRCATCGA-BH-A0BZ-01ATET3chr2

74317174

+DGUOKchr2

74184252

+
ChimerDB4LGGTCGA-S9-A6WLTET3chr2

74230293

+DGUOKchr2

74173846

+
ChimerDB4BRCATCGA-BH-A0BZ-01ATET3chr2

74317174

-DGUOKchr2

74184252

+
ChimerDB4LGGTCGA-S9-A6WL-01ATET3chr2

74230293

-DGUOKchr2

74173846

+


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Fusion Gene ORF analysis for TET3-DGUOK

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-frameENST00000409262ENST00000264093TET3chr2

74317174

+DGUOKchr2

74184252

+
5CDS-intronENST00000409262ENST00000348222TET3chr2

74317174

+DGUOKchr2

74184252

+
5CDS-intronENST00000409262ENST00000462685TET3chr2

74317174

+DGUOKchr2

74184252

+
5CDS-intronENST00000409262ENST00000356837TET3chr2

74317174

+DGUOKchr2

74184252

+
intron-3CDSENST00000409262ENST00000264093TET3chr2

74230293

+DGUOKchr2

74173846

+
intron-3CDSENST00000409262ENST00000348222TET3chr2

74230293

+DGUOKchr2

74173846

+
intron-3UTRENST00000409262ENST00000462685TET3chr2

74230293

+DGUOKchr2

74173846

+
intron-3UTRENST00000409262ENST00000356837TET3chr2

74230293

+DGUOKchr2

74173846

+

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)
ENST00000409262TET3chr274317174+ENST00000264093DGUOKchr274184252+3102263402876958

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
ENST00000409262ENST00000264093TET3chr274317174+DGUOKchr274184252+0.0043942410.99560577

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Fusion Genomic Features for TET3-DGUOK


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)
TET3chr274317174+DGUOKchr274184251+0.97406830.02593172
TET3chr274317174+DGUOKchr274184251+0.97406830.02593172

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 TET3-DGUOK


check button Go to

FGviewer for the breakpoints of chr2:74317174-chr2:74184252

.
- 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
.DGUOK

Q16854

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: Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:8692979, PubMed:8706825, PubMed:11687801, PubMed:17073823, PubMed:23043144). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs (By similarity). Widely used as target of antiviral and chemotherapeutic agents. {ECO:0000250|UniProtKB:Q9QX60, ECO:0000269|PubMed:11687801, ECO:0000269|PubMed:17073823, ECO:0000269|PubMed:23043144, ECO:0000269|PubMed:8692979, ECO:0000269|PubMed:8706825}.

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
HgeneTET3chr2:74317174chr2:74184252ENST00000409262+5950_90878.01661.0Zinc fingerCXXC-type
TgeneDGUOKchr2:74317174chr2:74184252ENST0000026409337206_208197.0278.0Nucleotide bindingATP
TgeneDGUOKchr2:74317174chr2:74184252ENST0000026409337254_256197.0278.0Nucleotide bindingATP
TgeneDGUOKchr2:74317174chr2:74184252ENST0000034822205206_2080190.0Nucleotide bindingATP
TgeneDGUOKchr2:74317174chr2:74184252ENST0000034822205254_2560190.0Nucleotide bindingATP
TgeneDGUOKchr2:74317174chr2:74184252ENST000003482220545_530190.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTET3chr2:74317174chr2:74184252ENST00000409262+591688_1690878.01661.0Region2-oxoglutarate binding
HgeneTET3chr2:74317174chr2:74184252ENST00000409262+591694_1696878.01661.0RegionSubstrate binding
TgeneDGUOKchr2:74317174chr2:74184252ENST000002640933745_53197.0278.0Nucleotide bindingATP


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Fusion Gene Sequence for TET3-DGUOK


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_ENST00000409262_ENST00000264093_TCGA-BH-A0BZ-01A_TET3_chr2_74317174_+_DGUOK_chr2_74184252_length(transcript)=3102nt_BP=2634nt
ATGGACTCAGGGCCAGTGTACCATGGGGACTCACGGCAGCTAAGCGCCTCAGGGGTGCCGGTCAATGGTGCTAGAGAGCCCGCTGGACCC
AGTCTGCTGGGGACTGGGGGTCCTTGGCGGGTAGACCAAAAGCCCGACTGGGAGGCTGCCCCAGGCCCAGCTCATACTGCTCGCCTGGAA
GATGCCCACGATCTGGTGGCCTTTTCGGCTGTGGCCGAAGCTGTGTCCTCTTATGGGGCCCTTAGCACCCGGCTCTATGAAACCTTCAAC
CGTGAGATGAGTCGTGAGGCTGGGAACAACAGCAGGGGACCCCGGCCAGGGCCTGAGGGCTGCTCTGCTGGCAGCGAAGACCTTGACACA
CTGCAGACGGCCCTGGCCCTCGCGCGGCATGGTATGAAACCACCCAACTGCAACTGCGATGGCCCAGAATGCCCTGACTACCTCGAGTGG
CTGGAGGGGAAGATCAAGTCTGTGGTCATGGAAGGAGGGGAGGAGCGGCCCAGGCTCCCAGGGCCTCTGCCTCCTGGTGAGGCCGGCCTC
CCAGCACCAAGCACCAGGCCACTCCTCAGCTCAGAGGTGCCCCAGATCTCTCCCCAAGAGGGCCTGCCCCTGTCCCAGAGTGCCCTGAGC
ATTGCCAAGGAAAAAAACATCAGCTTGCAGACCGCCATTGCCATTGAGGCCCTCACACAGCTCTCCTCTGCCCTCCCGCAGCCTTCTCAT
TCCACCCCCCAGGCTTCTTGCCCCCTTCCTGAGGCCTTGTCACCTCCTGCCCCTTTCAGATCTCCCCAGTCTTACCTCCGGGCTCCCTCA
TGGCCTGTGGTTCCTCCTGAAGAGCACTCATCTTTTGCTCCTGATAGCTCTGCCTTCCCTCCAGCAACTCCTAGAACTGAGTTCCCTGAA
GCCTGGGGCACTGACACCCCTCCAGCAACGCCCCGGAGCTCCTGGCCCATGCCTCGCCCAAGCCCCGATCCCATGGCTGAACTGGAGCAG
TTGTTGGGCAGCGCCAGTGATTACATCCAGTCAGTATTCAAGCGGCCTGAGGCCCTGCCTACCAAGCCCAAGGTCAAGGTGGAGGCACCC
TCTTCCTCCCCGGCCCCGGCCCCATCCCCTGTACTTCAGAGGGAGGCTCCCACGCCATCCTCGGAGCCCGACACCCACCAGAAGGCCCAG
ACCGCCCTGCAGCAGCACCTCCACCACAAGCGCAGCCTCTTCCTAGAACAGGTGCACGACACCTCCTTCCCTGCTCCTTCAGAGCCTTCT
GCTCCTGGCTGGTGGCCCCCACCAAGTTCACCTGTCCCACGGCTTCCAGACAGACCACCCAAGGAGAAGAAGAAGAAGCTCCCAACACCA
GCTGGAGGTCCCGTGGGAACGGAGAAAGCTGCCCCTGGGATCAAGCCCAGTGTCCGAAAGCCCATTCAGATCAAGAAGTCCAGGCCCCGG
GAAGCACAGCCCCTCTTCCCACCTGTCCGACAGATTGTCCTGGAAGGGCTTAGGTCCCCAGCCTCCCAGGAAGTGCAGGCTCATCCACCG
GCCCCTCTGCCTGCCTCACAGGGCTCTGCTGTGCCCCTGCCCCCAGAACCTTCTCTTGCGCTATTTGCACCTAGTCCCTCCAGGGACAGC
CTGCTGCCCCCTACTCAGGAAATGAGGTCCCCCAGCCCCATGACAGCCTTGCAGCCAGGCTCCACTGGCCCTCTTCCCCCTGCCGATGAC
AAGCTGGAAGAGCTCATCCGGCAGTTTGAGGCTGAATTTGGAGATAGCTTTGGGCTTCCCGGCCCCCCTTCTGTGCCCATTCAGGACCCC
GAGAACCAGCAAACATGTCTCCCAGCCCCTGAGAGCCCCTTTGCTACCCGTTCCCCCAAGCAAATCAAGATTGAGTCTTCGGGGGCTGTG
ACTGTGCTCTCAACCACCTGCTTCCATTCAGAGGAGGGAGGACAGGAGGCCACACCCACCAAGGCTGAGAACCCACTCACACCCACCCTC
AGTGGCTTCTTGGAGTCACCTCTTAAGTACCTGGACACACCCACCAAGAGTCTGCTGGACACACCTGCCAAGAGAGCCCAGGCCGAGTTC
CCCACCTGCGATTGCGTCGAACAAATAGTGGAGAAAGATGAAGGTCCATATTATACTCACTTGGGATCTGGCCCCACGGTCGCCTCTATC
CGGGAACTCATGGAGGAGCGGTATGGAGAGAAGGGGAAAGCCATCCGGATCGAGAAGGTCATCTACACGGGGAAGGAGGGAAAGAGCTCC
CGCGGTTGCCCCATTGCAAAGTGGGTGATCCGCAGGCACACGCTGGAGGAGAAGCTACTCTGCCTGGTGCGGCACCGGGCAGGCCACCAC
TGCCAGAACGCTGTGATCGTCATCCTCATCCTGGCCTGGGAGGGCATTCCCCGTAGCCTCGGAGACACCCTCTACCAGGAGCTCACCGAC
ACCCTCCGGAAGTATGGGAACCCCACCAGCCGGAGATGCGGCCTCAACGATGACCGGACCTGCGCTTGCCAAGGCAAAGACCCCAACACC
TGTGGTGCCTCCTTCTCCTTTGGTTGTTCCTGGAGCATGTACTTCAACGGCTGCAAGTATGCTCGGAGCAAGACACCTCGCAAGTTCCGC
CTCGCAGGGGACAATCCCAAAGAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTA
GAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTG
TTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTAAACACCTTTGTAAAGAATCTGTAACCA
ATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGC
CCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCA

>In-frame_ENST00000409262_ENST00000264093_TCGA-BH-A0BZ-01A_TET3_chr2_74317174_+_DGUOK_chr2_74184252_length(amino acids)=958AA_start in transcript=0_stop in transcript=2876
MDSGPVYHGDSRQLSASGVPVNGAREPAGPSLLGTGGPWRVDQKPDWEAAPGPAHTARLEDAHDLVAFSAVAEAVSSYGALSTRLYETFN
REMSREAGNNSRGPRPGPEGCSAGSEDLDTLQTALALARHGMKPPNCNCDGPECPDYLEWLEGKIKSVVMEGGEERPRLPGPLPPGEAGL
PAPSTRPLLSSEVPQISPQEGLPLSQSALSIAKEKNISLQTAIAIEALTQLSSALPQPSHSTPQASCPLPEALSPPAPFRSPQSYLRAPS
WPVVPPEEHSSFAPDSSAFPPATPRTEFPEAWGTDTPPATPRSSWPMPRPSPDPMAELEQLLGSASDYIQSVFKRPEALPTKPKVKVEAP
SSSPAPAPSPVLQREAPTPSSEPDTHQKAQTALQQHLHHKRSLFLEQVHDTSFPAPSEPSAPGWWPPPSSPVPRLPDRPPKEKKKKLPTP
AGGPVGTEKAAPGIKPSVRKPIQIKKSRPREAQPLFPPVRQIVLEGLRSPASQEVQAHPPAPLPASQGSAVPLPPEPSLALFAPSPSRDS
LLPPTQEMRSPSPMTALQPGSTGPLPPADDKLEELIRQFEAEFGDSFGLPGPPSVPIQDPENQQTCLPAPESPFATRSPKQIKIESSGAV
TVLSTTCFHSEEGGQEATPTKAENPLTPTLSGFLESPLKYLDTPTKSLLDTPAKRAQAEFPTCDCVEQIVEKDEGPYYTHLGSGPTVASI
RELMEERYGEKGKAIRIEKVIYTGKEGKSSRGCPIAKWVIRRHTLEEKLLCLVRHRAGHHCQNAVIVILILAWEGIPRSLGDTLYQELTD
TLRKYGNPTSRRCGLNDDRTCACQGKDPNTCGASFSFGCSWSMYFNGCKYARSKTPRKFRLAGDNPKEVCLKRLYQRAREEEKGIELAYL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for TET3-DGUOK


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
HgeneTET3chr2:74317174chr2:74184252ENST00000409262+59985_998878.01661.0DNA


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 TET3-DGUOK


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 TET3-DGUOK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTET3C1510586Autism Spectrum Disorders1CTD_human
TgeneDGUOKC3151513MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneDGUOKC4310735PORTAL HYPERTENSION, NONCIRRHOTIC3GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneDGUOKC4310935MITOCHONDRIAL DNA DEPLETION SYNDROME 32GENOMICS_ENGLAND
TgeneDGUOKC0008370Cholestasis1GENOMICS_ENGLAND
TgeneDGUOKC3711385Deoxyguanosine Kinase Deficiency1CTD_human
TgeneDGUOKC4310733PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 41CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT