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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:FAM168B-QKI (FusionGDB2 ID:HG130074TG9444)

Fusion Gene Summary for FAM168B-QKI

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM168B-QKI
Fusion gene ID: hg130074tg9444
HgeneTgene
Gene symbol

FAM168B

QKI

Gene ID

130074

9444

Gene namefamily with sequence similarity 168 member BQKI, KH domain containing RNA binding
SynonymsMANIHqk|QK|QK1|QK3|hqkI
Cytomap('FAM168B')('QKI')

2q21.1

6q26

Type of geneprotein-codingprotein-coding
Descriptionmyelin-associated neurite-outgrowth inhibitorprotein FAM168Bprotein quakingQKI/LOC100132735 fusionRNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)quaking homolog, KH domain RNA binding
Modification date2020031320200327
UniProtAcc.

Q96PU8

Ensembl transtripts involved in fusion geneENST00000389915, ENST00000409185, 
Fusion gene scores* DoF score8 X 7 X 5=28023 X 23 X 9=4761
# samples 927
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/4761*10)=-4.14023331650551
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM168B [Title/Abstract] AND QKI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM168B(131840150)-QKI(163876311), # samples:1
Anticipated loss of major functional domain due to fusion event.FAM168B-QKI seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
FAM168B-QKI seems lost the major protein functional domain in Tgene partner, which is a essential gene 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


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
ChimerDB4GBMTCGA-32-5222-01AFAM168Bchr2

131840150

-QKIchr6

163876311

+


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Fusion Gene ORF analysis for FAM168B-QKI

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-shiftENST00000389915ENST00000275262FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000389915ENST00000361195FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000389915ENST00000361752FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000389915ENST00000392127FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000389915ENST00000424802FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000389915ENST00000453779FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000409185ENST00000275262FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000409185ENST00000361195FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000409185ENST00000361752FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000409185ENST00000392127FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000409185ENST00000424802FAM168Bchr2

131840150

-QKIchr6

163876311

+
Frame-shiftENST00000409185ENST00000453779FAM168Bchr2

131840150

-QKIchr6

163876311

+

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 FAM168B-QKI


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)
FAM168Bchr2131840149-QKIchr6163876310+2.20E-050.99997807
FAM168Bchr2131840149-QKIchr6163876310+2.20E-050.99997807


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 FAM168B-QKI


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/:131840150/:163876311)
- 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
.QKI

Q96PU8

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}.FUNCTION: RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity). {ECO:0000250|UniProtKB:Q9QYS9, ECO:0000269|PubMed:16641098, ECO:0000269|PubMed:23630077}.

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 FAM168B-QKI


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 FAM168B-QKI


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 FAM168B-QKI


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 FAM168B-QKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0036341Schizophrenia5PSYGENET
TgeneC0017638Glioma1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0259783mixed gliomas1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC2363903Angiocentric glioma1ORPHANET
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND