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:AKAP1-GGA3 (FusionGDB2 ID:3335)

Fusion Gene Summary for AKAP1-GGA3

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP1-GGA3
Fusion gene ID: 3335
HgeneTgene
Gene symbol

AKAP1

GGA3

Gene ID

8165

23163

Gene nameA-kinase anchoring protein 1golgi associated, gamma adaptin ear containing, ARF binding protein 3
SynonymsAKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|PPP1R43|PRKA1|SAKAP84|TDRD17-
Cytomap

17q22

17q25.1

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 1, mitochondrialA kinase (PRKA) anchor protein 1A-kinase anchor protein 149 kDaAKAP 149D-AKAP-1dual-specificity A-kinase anchoring protein 1protein kinase A anchoring protein 1protein kinase A1protein phosphatase 1, regulatADP-ribosylation factor-binding protein GGA3Golgi-localized, gamma ear-containing, ARF-binding protein 3
Modification date2020031320200313
UniProtAcc

Q92667

Q9NZ52

Ensembl transtripts involved in fusion geneENST00000314126, ENST00000337714, 
ENST00000539273, ENST00000571629, 
ENST00000572557, 		ENST00000245541, 
ENST00000351904, ENST00000537686, 
ENST00000578348, ENST00000579743, 
ENST00000582486, ENST00000582717, 
ENST00000538886, 
Fusion gene scores* DoF score10 X 8 X 4=3205 X 3 X 4=60
# samples 125
** MAII scorelog2(12/320*10)=-1.41503749927884
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: AKAP1 [Title/Abstract] AND GGA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKAP1(55162759)-GGA3(73242877), # samples:4
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
TgeneGGA3

GO:0031647

regulation of protein stability

17553422|20484053

TgeneGGA3

GO:0031648

protein destabilization

20484053

TgeneGGA3

GO:1902430

negative regulation of amyloid-beta formation

17553422


check buttonFusion gene breakpoints across AKAP1 (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 GGA3 (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
ChimerDB4BRCATCGA-E2-A15H-01AAKAP1chr17

55162759

-GGA3chr17

73242877

-
ChimerDB4BRCATCGA-E2-A15H-01AAKAP1chr17

55162759

+GGA3chr17

73242877

-
ChimerDB4BRCATCGA-E2-A15H-01AAKAP1chr17

55162759

+GGA3chr17

73245089

-
ChimerDB4BRCATCGA-E2-A15HAKAP1chr17

55162759

+GGA3chr17

73242877

-


Top

Fusion Gene ORF analysis for AKAP1-GGA3

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-3CDSENST00000314126ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-3CDSENST00000314126ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-3CDSENST00000337714ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-3CDSENST00000337714ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000314126ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000314126ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000314126ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000314126ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-5UTRENST00000314126ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000314126ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000337714ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000337714ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000337714ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000337714ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-5UTRENST00000337714ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-5UTRENST00000337714ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-intronENST00000314126ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000314126ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000314126ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000314126ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-intronENST00000314126ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000314126ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000314126ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000314126ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73242877

-
5UTR-intronENST00000337714ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73245089

-
5UTR-intronENST00000337714ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-3CDSENST00000539273ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-3CDSENST00000539273ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-3CDSENST00000571629ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-3CDSENST00000571629ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-3CDSENST00000572557ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-3CDSENST00000572557ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000539273ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000539273ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000539273ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000539273ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-5UTRENST00000539273ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000539273ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000571629ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000571629ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000571629ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000571629ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-5UTRENST00000571629ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000571629ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000572557ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000572557ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000572557ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000572557ENST00000579743AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-5UTRENST00000572557ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-5UTRENST00000572557ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-intronENST00000539273ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000539273ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000539273ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000539273ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-intronENST00000539273ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000539273ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000539273ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000539273ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-intronENST00000571629ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000571629ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000245541AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000351904AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000537686AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73242877

-
intron-intronENST00000572557ENST00000538886AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000578348AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000582486AKAP1chr17

55162759

+GGA3chr17

73245089

-
intron-intronENST00000572557ENST00000582717AKAP1chr17

55162759

+GGA3chr17

73245089

-

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 AKAP1-GGA3


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.

Top

Fusion Protein Features for AKAP1-GGA3


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/:55162759/:73242877)
- 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
AKAP1

Q92667

GGA3

Q9NZ52

FUNCTION: Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane (By similarity). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Promotes translocation of NDUFS1 into mitochondria to regulate mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) activity (By similarity). {ECO:0000250|UniProtKB:O08715, ECO:0000269|PubMed:31522117}.FUNCTION: Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:17553422, PubMed:15615712, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels independently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity). {ECO:0000250|UniProtKB:A0A0G2JV04, ECO:0000269|PubMed:11301005, ECO:0000269|PubMed:15615712, ECO:0000269|PubMed:17553422, ECO:0000269|PubMed:20484053, ECO:0000269|PubMed:26811329}.

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 AKAP1-GGA3


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 AKAP1-GGA3


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 AKAP1-GGA3


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 AKAP1-GGA3


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