Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CIC-MEGF8 (FusionGDB2 ID:HG23152TG1954)

Fusion Gene Summary for CIC-MEGF8

check button Fusion gene summary
Fusion gene informationFusion gene name: CIC-MEGF8
Fusion gene ID: hg23152tg1954
HgeneTgene
Gene symbol

CIC

MEGF8

Gene ID

23152

1954

Gene namecapicua transcriptional repressormultiple EGF like domains 8
SynonymsMRD45C19orf49|CRPT2|EGFL4|SBP1
Cytomap('CIC')('MEGF8')

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein capicua homologmultiple epidermal growth factor-like domains protein 8EGF-like domain-containing protein 4EGF-like-domain, multiple 4HBV pre-S2-binding protein 1HBV pre-s2 binding protein 1epidermal growth factor-like protein 4hepatitis B virus pre-S2-binding prot
Modification date2020031320200313
UniProtAcc

Q96RK0

.
Ensembl transtripts involved in fusion geneENST00000572681, ENST00000160740, 
ENST00000575354, ENST00000575839, 
Fusion gene scores* DoF score13 X 12 X 6=9364 X 5 X 3=60
# samples 125
** MAII scorelog2(12/936*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CIC [Title/Abstract] AND MEGF8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCIC(42778416)-MEGF8(42855368), # samples:1
Anticipated loss of major functional domain due to fusion event.CIC-MEGF8 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CIC-MEGF8 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CIC-MEGF8 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
CIC-MEGF8 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CIC-MEGF8 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
* 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-E9-A5UO-01ACICchr19

42778416

+MEGF8chr19

42855368

+


Top

Fusion Gene ORF analysis for CIC-MEGF8

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
5CDS-intronENST00000572681ENST00000378073CICchr19

42778416

+MEGF8chr19

42855368

+
Frame-shiftENST00000572681ENST00000251268CICchr19

42778416

+MEGF8chr19

42855368

+
Frame-shiftENST00000572681ENST00000334370CICchr19

42778416

+MEGF8chr19

42855368

+
intron-3CDSENST00000160740ENST00000251268CICchr19

42778416

+MEGF8chr19

42855368

+
intron-3CDSENST00000160740ENST00000334370CICchr19

42778416

+MEGF8chr19

42855368

+
intron-3CDSENST00000575354ENST00000251268CICchr19

42778416

+MEGF8chr19

42855368

+
intron-3CDSENST00000575354ENST00000334370CICchr19

42778416

+MEGF8chr19

42855368

+
intron-3CDSENST00000575839ENST00000251268CICchr19

42778416

+MEGF8chr19

42855368

+
intron-3CDSENST00000575839ENST00000334370CICchr19

42778416

+MEGF8chr19

42855368

+
intron-intronENST00000160740ENST00000378073CICchr19

42778416

+MEGF8chr19

42855368

+
intron-intronENST00000575354ENST00000378073CICchr19

42778416

+MEGF8chr19

42855368

+
intron-intronENST00000575839ENST00000378073CICchr19

42778416

+MEGF8chr19

42855368

+

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

Top

Fusion Genomic Features for CIC-MEGF8


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)


Top

Fusion Protein Features for CIC-MEGF8


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/:42778416/:42855368)
- 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
CIC

Q96RK0

.
FUNCTION: Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. {ECO:0000250|UniProtKB:Q924A2}.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


Top

Fusion Gene Sequence for CIC-MEGF8


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.

Top

Fusion Gene PPI Analysis for CIC-MEGF8


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


Top

Related Drugs for CIC-MEGF8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for CIC-MEGF8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCICC4539848MENTAL RETARDATION, AUTOSOMAL DOMINANT 453GENOMICS_ENGLAND;UNIPROT
HgeneCICC0020796Profound Mental Retardation2CTD_human
HgeneCICC0025363Mental Retardation, Psychosocial2CTD_human
HgeneCICC0917816Mental deficiency2CTD_human
HgeneCICC3714756Intellectual Disability2CTD_human
HgeneCICC0027627Neoplasm Metastasis1CTD_human
HgeneCICC0041671Attention Deficit Disorder1CTD_human
HgeneCICC0087012Ataxia, Spinocerebellar1CTD_human
HgeneCICC0752120Spinocerebellar Ataxia Type 11CTD_human
HgeneCICC0752121Spinocerebellar Ataxia Type 21CTD_human
HgeneCICC0752122Spinocerebellar Ataxia Type 41CTD_human
HgeneCICC0752123Spinocerebellar Ataxia Type 51CTD_human
HgeneCICC0752124Spinocerebellar Ataxia Type 6 (disorder)1CTD_human
HgeneCICC0752125Spinocerebellar Ataxia Type 71CTD_human
HgeneCICC1263846Attention deficit hyperactivity disorder1CTD_human
HgeneCICC1321905Minimal Brain Dysfunction1CTD_human
HgeneCICC1510586Autism Spectrum Disorders1CTD_human
TgeneC0152427Polydactyly1GENOMICS_ENGLAND
TgeneC1275078Acrocephalopolysyndactyly type 21CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3554247CARPENTER SYNDROME 21GENOMICS_ENGLAND;UNIPROT