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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:TBC1D14-BRSK2 (FusionGDB2 ID:88603)

Fusion Gene Summary for TBC1D14-BRSK2

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D14-BRSK2
Fusion gene ID: 88603
HgeneTgene
Gene symbol

TBC1D14

BRSK2

Gene ID

57533

9024

Gene nameTBC1 domain family member 14BR serine/threonine kinase 2
Synonyms-C11orf7|PEN11B|SAD1|SADA|STK29
Cytomap

4p16.1

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 14serine/threonine-protein kinase BRSK2BR serine/threonine-protein kinase 2brain-selective kinase 2brain-specific serine/threonine-protein kinase 2protein kinase SAD1Bserine/threonine-protein kinase 29serine/threonine-protein kinase SAD-Atesticular t
Modification date2020031320200313
UniProtAcc.

Q8IWQ3

Ensembl transtripts involved in fusion geneENST00000448507, ENST00000409757, 
ENST00000410031, ENST00000451522, 
ENST00000446947, 		ENST00000308219, 
ENST00000528841, ENST00000531197, 
ENST00000308230, ENST00000526678, 
ENST00000528710, ENST00000382179, 
ENST00000544817, 
Fusion gene scores* DoF score8 X 5 X 9=3602 X 3 X 2=12
# samples 133
** MAII scorelog2(13/360*10)=-1.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TBC1D14 [Title/Abstract] AND BRSK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBC1D14(6925838)-BRSK2(1457270), # samples:2
Anticipated loss of major functional domain due to fusion event.TBC1D14-BRSK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TBC1D14-BRSK2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
TBC1D14-BRSK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneBRSK2

GO:0006468

protein phosphorylation

14976552


check buttonFusion gene breakpoints across TBC1D14 (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 BRSK2 (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
ChimerDB4LUADTCGA-50-6590-01ATBC1D14chr4

6925838

+BRSK2chr11

1457270

+
ChimerDB4LUADTCGA-50-6590TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
ChimerDB4LUADTCGA-50-6590-01ATBC1D14chr4

6925838

+BRSK2chr11

1457270

+


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Fusion Gene ORF analysis for TBC1D14-BRSK2

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-shiftENST00000448507ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000448507ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000448507ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000448507ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000448507ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
5CDS-5UTRENST00000448507ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
5CDS-5UTRENST00000448507ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
5CDS-intronENST00000448507ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000409757ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000409757ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000409757ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000409757ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000409757ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
5CDS-5UTRENST00000409757ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
5CDS-5UTRENST00000409757ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
5CDS-intronENST00000409757ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000410031ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000410031ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000410031ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000410031ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000410031ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-5UTRENST00000410031ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-5UTRENST00000410031ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-intronENST00000410031ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000451522ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000451522ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000451522ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000451522ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000451522ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-5UTRENST00000451522ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-5UTRENST00000451522ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-intronENST00000451522ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000446947ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000446947ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000446947ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000446947ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-3CDSENST00000446947ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-5UTRENST00000446947ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-5UTRENST00000446947ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
intron-intronENST00000446947ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457270

+
Frame-shiftENST00000448507ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000448507ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000448507ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000448507ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000448507ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
5CDS-5UTRENST00000448507ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
5CDS-5UTRENST00000448507ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
5CDS-intronENST00000448507ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000409757ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000409757ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000409757ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000409757ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
Frame-shiftENST00000409757ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
5CDS-5UTRENST00000409757ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
5CDS-5UTRENST00000409757ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
5CDS-intronENST00000409757ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000410031ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000410031ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000410031ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000410031ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000410031ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-5UTRENST00000410031ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-5UTRENST00000410031ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-intronENST00000410031ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000451522ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000451522ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000451522ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000451522ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000451522ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-5UTRENST00000451522ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-5UTRENST00000451522ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-intronENST00000451522ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000446947ENST00000308219TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000446947ENST00000528841TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000446947ENST00000531197TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000446947ENST00000308230TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-3CDSENST00000446947ENST00000526678TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-5UTRENST00000446947ENST00000528710TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-5UTRENST00000446947ENST00000382179TBC1D14chr4

6925838

+BRSK2chr11

1457269

+
intron-intronENST00000446947ENST00000544817TBC1D14chr4

6925838

+BRSK2chr11

1457269

+

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 TBC1D14-BRSK2


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)
TBC1D14chr46925838+BRSK2chr111457269+9.59E-091
TBC1D14chr46925838+BRSK2chr111457269+9.59E-091
TBC1D14chr46925838+BRSK2chr111457269+9.59E-091
TBC1D14chr46925838+BRSK2chr111457269+9.59E-091

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 TBC1D14-BRSK2


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.BRSK2

Q8IWQ3

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: Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 can promote insulin secretion (PubMed:22669945). Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress. {ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:20026642, ECO:0000269|PubMed:21985311, ECO:0000269|PubMed:22669945, ECO:0000269|PubMed:22798068, ECO:0000269|PubMed:23029325}.

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 TBC1D14-BRSK2


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 TBC1D14-BRSK2


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 TBC1D14-BRSK2


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 TBC1D14-BRSK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBRSK2C0004352Autistic Disorder1GENOMICS_ENGLAND
TgeneBRSK2C0233514Abnormal behavior1GENOMICS_ENGLAND
TgeneBRSK2C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneBRSK2C1535926Neurodevelopmental Disorders1GENOMICS_ENGLAND
TgeneBRSK2C3714756Intellectual Disability1GENOMICS_ENGLAND