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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:MAPKAP1-TBC1D1 (FusionGDB2 ID:51601)

Fusion Gene Summary for MAPKAP1-TBC1D1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKAP1-TBC1D1
Fusion gene ID: 51601
HgeneTgene
Gene symbol

MAPKAP1

TBC1D1

Gene ID

79109

23216

Gene nameMAPK associated protein 1TBC1 domain family member 1
SynonymsJC310|MIP1|SIN1|SIN1b|SIN1gTBC|TBC1
Cytomap

9q33.3

4p14

Type of geneprotein-codingprotein-coding
Descriptiontarget of rapamycin complex 2 subunit MAPKAP1MEKK2-interacting protein 1SAPK-interacting protein 1TORC2 subunit MAPKAP1mSIN1mitogen-activated protein kinase 2-associated protein 1mitogen-activated protein kinase associated protein 1ras inhibitor MGTBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
Modification date2020032920200320
UniProtAcc

Q9BPZ7

.
Ensembl transtripts involved in fusion geneENST00000265960, ENST00000350766, 
ENST00000373503, ENST00000373511, 
ENST00000394060, ENST00000394063, 
ENST00000373497, ENST00000373498, 
ENST00000483937, 		ENST00000261439, 
ENST00000508802, ENST00000402522, 
ENST00000407365, 
Fusion gene scores* DoF score16 X 13 X 8=166414 X 11 X 6=924
# samples 1615
** MAII scorelog2(16/1664*10)=-3.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/924*10)=-2.62293035092018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAPKAP1 [Title/Abstract] AND TBC1D1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPKAP1(128469250)-TBC1D1(38091553), # 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

check buttonFusion gene breakpoints across MAPKAP1 (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 TBC1D1 (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
ChimerDB4Non-CancerTCGA-HU-A4GC-11AMAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+


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Fusion Gene ORF analysis for MAPKAP1-TBC1D1

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
5UTR-3CDSENST00000265960ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000265960ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000350766ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000350766ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000373503ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000373503ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000373511ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000373511ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000394060ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000394060ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000394063ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-3CDSENST00000394063ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000265960ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000265960ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000350766ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000350766ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000373503ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000373503ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000373511ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000373511ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000394060ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000394060ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000394063ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
5UTR-intronENST00000394063ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-3CDSENST00000373497ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-3CDSENST00000373497ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-3CDSENST00000373498ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-3CDSENST00000373498ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-3CDSENST00000483937ENST00000261439MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-3CDSENST00000483937ENST00000508802MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-intronENST00000373497ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-intronENST00000373497ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-intronENST00000373498ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-intronENST00000373498ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-intronENST00000483937ENST00000402522MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+
intron-intronENST00000483937ENST00000407365MAPKAP1chr9

128469250

-TBC1D1chr4

38091553

+

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 MAPKAP1-TBC1D1


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.
genomic feature of top 1%

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Fusion Protein Features for MAPKAP1-TBC1D1


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/:128469250/:38091553)
- 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
MAPKAP1

Q9BPZ7

.
FUNCTION: Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex. {ECO:0000269|PubMed:15988011, ECO:0000269|PubMed:16962653, ECO:0000269|PubMed:17043309, ECO:0000269|PubMed:17054722, ECO:0000269|PubMed:17303383, ECO:0000269|PubMed:23727834}.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 MAPKAP1-TBC1D1


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 MAPKAP1-TBC1D1


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 MAPKAP1-TBC1D1


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 MAPKAP1-TBC1D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource