FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 6923

FusionGeneSummary for CGGBP1_ACTN4

check button Fusion gene summary
Fusion gene informationFusion gene name: CGGBP1_ACTN4
Fusion gene ID: 6923
HgeneTgene
Gene symbol

CGGBP1

ACTN4

Gene ID

8545

81

Gene nameCGG triplet repeat binding protein 1actinin alpha 4
SynonymsCGGBP|p20-CGGBPACTININ-4|FSGS|FSGS1
Cytomap

3p11.1

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionCGG triplet repeat-binding protein 120 kDa CGG-binding proteinCGG-binding protein 1p20-CGG binding proteinp20-CGGBP DNA-binding proteinalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4
Modification date2018052320180522
UniProtAcc

Q9UFW8

O43707

Ensembl transtripts involved in fusion geneENST00000309534, ENST00000398392, 
ENST00000482016, ENST00000462901, 
ENST00000474441, 
ENST00000252699, 
ENST00000424234, ENST00000390009, 
ENST00000497637, 
Fusion gene scores* DoF score3 X 2 X 3=1819 X 14 X 7=1862
# samples 320
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1862*10)=-3.21878116778407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CGGBP1 [Title/Abstract] AND ACTN4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneCGGBP1

GO:0000122

negative regulation of transcription by RNA polymerase II

10692448

TgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

TgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

TgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BP392581CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000309534ENST00000252699CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000309534ENST00000424234CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000309534ENST00000390009CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000309534ENST00000497637CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-3UTRENST00000398392ENST00000252699CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000398392ENST00000424234CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000398392ENST00000390009CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000398392ENST00000497637CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-3UTRENST00000482016ENST00000252699CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000482016ENST00000424234CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000482016ENST00000390009CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000482016ENST00000497637CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-3UTRENST00000462901ENST00000252699CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000462901ENST00000424234CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000462901ENST00000390009CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000462901ENST00000497637CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-3UTRENST00000474441ENST00000252699CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000474441ENST00000424234CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000474441ENST00000390009CGGBP1chr3

88108084

+ACTN4chr19

39220788

+
intron-intronENST00000474441ENST00000497637CGGBP1chr3

88108084

+ACTN4chr19

39220788

+

Top

FusionProtFeatures for CGGBP1_ACTN4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CGGBP1

Q9UFW8

ACTN4

O43707

Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotiderepeats in the FMR1 promoter. May play a role in regulating FMR1promoter. {ECO:0000269|PubMed:9201980}. F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein (Probable). Probably involved in vesicular trafficking viaits association with the CART complex. The CART complex isnecessary for efficient transferrin receptor recycling but not forEGFR degradation (PubMed:15772161). Involved in tight junctionassembly in epithelial cells probably through interaction withMICALL2. Links MICALL2 to the actin cytoskeleton and recruits itto the tight junctions (By similarity). May also function as atranscriptional coactivator, stimulating transcription mediated bythe nuclear hormone receptors PPARG and RARA (PubMed:22351778).{ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161,ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}.

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

FusionGeneSequence for CGGBP1_ACTN4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for CGGBP1_ACTN4


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

RelatedDrugs for CGGBP1_ACTN4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CGGBP1_ACTN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACTN4C0333497Segmental glomerulosclerosis3UNIPROT
TgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human