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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:ANK3-UBE2I (FusionGDB2 ID:HG288TG7329)

Fusion Gene Summary for ANK3-UBE2I

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK3-UBE2I
Fusion gene ID: hg288tg7329
HgeneTgene
Gene symbol

ANK3

UBE2I

Gene ID

288

7329

Gene nameankyrin 3ubiquitin conjugating enzyme E2 I
SynonymsANKYRIN-G|MRT37C358B7.1|P18|UBC9
Cytomap('ANK3')('UBE2I')

10q21.2

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionankyrin-3ankyrin 3, node of Ranvier (ankyrin G)SUMO-conjugating enzyme UBC9RING-type E3 SUMO transferase UBC9SUMO-1-protein ligaseSUMO-protein ligaseubiquitin carrier protein 9ubiquitin carrier protein Iubiquitin conjugating enzyme 9ubiquitin conjugating enzyme E2Iubiquitin-conjugating enzyme
Modification date2020031320200327
UniProtAcc

Q12955

.
Ensembl transtripts involved in fusion geneENST00000280772, ENST00000355288, 
ENST00000373827, ENST00000460468, 
ENST00000503366, ENST00000510382, 
Fusion gene scores* DoF score28 X 22 X 9=554410 X 8 X 8=640
# samples 2910
** MAII scorelog2(29/5544*10)=-4.25680245212228
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/640*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANK3 [Title/Abstract] AND UBE2I [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANK3(62268232)-UBE2I(1374731), # 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
TgeneUBE2I

GO:0016925

protein sumoylation

15660128|19955185|21968017

TgeneUBE2I

GO:0045892

negative regulation of transcription, DNA-templated

16631117

TgeneUBE2I

GO:1903755

positive regulation of SUMO transferase activity

19955185



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
ChimerDB4BRCATCGA-EW-A1OZ-01AANK3chr10

62268232

-UBE2Ichr16

1374731

+


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Fusion Gene ORF analysis for ANK3-UBE2I

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
intron-intronENST00000280772ENST00000325437ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000339021ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000355803ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000397514ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000397515ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000402301ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000403747ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000406620ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000280772ENST00000566587ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000325437ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000339021ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000355803ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000397514ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000397515ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000402301ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000403747ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000406620ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000355288ENST00000566587ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000325437ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000339021ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000355803ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000397514ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000397515ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000402301ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000403747ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000406620ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000373827ENST00000566587ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000325437ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000339021ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000355803ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000397514ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000397515ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000402301ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000403747ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000406620ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000460468ENST00000566587ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000325437ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000339021ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000355803ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000397514ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000397515ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000402301ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000403747ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000406620ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000503366ENST00000566587ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000325437ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000339021ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000355803ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000397514ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000397515ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000402301ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000403747ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000406620ANK3chr10

62268232

-UBE2Ichr16

1374731

+
intron-intronENST00000510382ENST00000566587ANK3chr10

62268232

-UBE2Ichr16

1374731

+

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 ANK3-UBE2I


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)


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Fusion Protein Features for ANK3-UBE2I


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/:62268232/:1374731)
- 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
ANK3

Q12955

.
FUNCTION: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). {ECO:0000250, ECO:0000269|PubMed:17974005}.; FUNCTION: [Isoform 5]: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. {ECO:0000305|PubMed:17974005}.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}.

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 ANK3-UBE2I


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 ANK3-UBE2I


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 ANK3-UBE2I


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 ANK3-UBE2I


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK3C0005586Bipolar Disorder8CTD_human;PSYGENET
HgeneANK3C0005587Depression, Bipolar3CTD_human
HgeneANK3C0024713Manic Disorder3CTD_human
HgeneANK3C0036341Schizophrenia3PSYGENET
HgeneANK3C0338831Manic3CTD_human
HgeneANK3C0033975Psychotic Disorders2PSYGENET
HgeneANK3C0525045Mood Disorders2PSYGENET
HgeneANK3C0015923Fetal Alcohol Syndrome1CTD_human
HgeneANK3C0024121Lung Neoplasms1CTD_human
HgeneANK3C0033300Progeria1CTD_human
HgeneANK3C0038220Status Epilepticus1CTD_human
HgeneANK3C0178417Anhedonia1PSYGENET
HgeneANK3C0242379Malignant neoplasm of lung1CTD_human
HgeneANK3C0270823Petit mal status1CTD_human
HgeneANK3C0311335Grand Mal Status Epilepticus1CTD_human
HgeneANK3C0349204Nonorganic psychosis1PSYGENET
HgeneANK3C0393734Complex Partial Status Epilepticus1CTD_human
HgeneANK3C0751522Status Epilepticus, Subclinical1CTD_human
HgeneANK3C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneANK3C0751524Simple Partial Status Epilepticus1CTD_human
HgeneANK3C0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
HgeneANK3C2985290Fetal Alcohol Spectrum Disorders1CTD_human
HgeneANK3C3146244Alcohol Related Birth Defect1CTD_human
HgeneANK3C3661483Partial Fetal Alcohol Syndrome1CTD_human
HgeneANK3C3809672MENTAL RETARDATION, AUTOSOMAL RECESSIVE 371CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0007097Carcinoma1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human