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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:GATAD2A-PRKACA (FusionGDB2 ID:32502)

Fusion Gene Summary for GATAD2A-PRKACA

Fusion gene summary

Fusion gene information	Fusion gene name: GATAD2A-PRKACA
	Fusion gene ID: 32502
		Hgene	Tgene
	Gene symbol	GATAD2A	PRKACA
	Gene ID	54815	5578
	Gene name	GATA zinc finger domain containing 2A	protein kinase C alpha
	Synonyms	p66alpha	AAG6\|PKC-alpha\|PKCA\|PKCI+/-\|PKCalpha\|PRKACA
	Cytomap	19p13.11	17q24.2
	Type of gene	protein-coding	protein-coding
	Description	transcriptional repressor p66-alphaGATA zinc finger domain-containing protein 2A	protein kinase C alpha typePKC-Aaging-associated gene 6
	Modification date	20200313	20200327
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000252577, ENST00000360315, ENST00000537887, ENST00000404158, ENST00000358713, ENST00000429563, ENST00000473184,	ENST00000308677, ENST00000350356, ENST00000590853, ENST00000589994,
Fusion gene scores	* DoF score	20 X 14 X 9=2520	4 X 5 X 4=80
	# samples	25	6
	** MAII score	log2(25/2520*10)=-3.33342373372519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: GATAD2A [Title/Abstract] AND PRKACA [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	GATAD2A(19496947)-PRKACA(14204604), # samples:2
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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	GATAD2A	GO:0045892	negative regulation of transcription, DNA-templated	12183469
Tgene	PRKACA	GO:0006468	protein phosphorylation	10770950
Tgene	PRKACA	GO:0035408	histone H3-T6 phosphorylation	20228790
Tgene	PRKACA	GO:0043536	positive regulation of blood vessel endothelial cell migration	20011604
Tgene	PRKACA	GO:0090330	regulation of platelet aggregation	12724315

Fusion gene breakpoints across GATAD2A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across PRKACA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-AC-A5XU-01A	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
ChimerDB4	BRCA	TCGA-AC-A5XU-01A	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
ChimerDB4	BRCA	TCGA-AC-A5XU-01A	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-

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Fusion Gene ORF analysis for GATAD2A-PRKACA

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000252577	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-5UTR	ENST00000252577	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000252577	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000252577	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-3CDS	ENST00000360315	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-5UTR	ENST00000360315	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000360315	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000360315	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-3CDS	ENST00000537887	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-5UTR	ENST00000537887	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000537887	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000537887	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000404158	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000404158	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000404158	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000404158	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000358713	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000358713	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000358713	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000358713	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000429563	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000429563	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000429563	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000429563	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000473184	ENST00000308677	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000473184	ENST00000350356	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000473184	ENST00000590853	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-intron	ENST00000473184	ENST00000589994	GATAD2A	chr19	19496947	+	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000252577	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000252577	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000252577	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000252577	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000360315	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000360315	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000360315	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000360315	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000537887	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000537887	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000537887	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000537887	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
5UTR-3CDS	ENST00000404158	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
5UTR-5UTR	ENST00000404158	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000404158	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
5UTR-intron	ENST00000404158	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000358713	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000358713	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000358713	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000358713	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000429563	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000429563	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000429563	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000429563	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-3CDS	ENST00000473184	ENST00000308677	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-5UTR	ENST00000473184	ENST00000350356	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000473184	ENST00000590853	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-
intron-intron	ENST00000473184	ENST00000589994	GATAD2A	chr19	19547028	-	PRKACA	chr19	14204604	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for GATAD2A-PRKACA

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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.

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Fusion Protein Features for GATAD2A-PRKACA

Go to
FGviewer for the breakpoints of :-:
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for GATAD2A-PRKACA

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 GATAD2A-PRKACA

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for GATAD2A-PRKACA

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for GATAD2A-PRKACA

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PRKACA	C4014425	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4	4	CTD_human;UNIPROT
Tgene	PRKACA	C0001624	Adrenal Gland Neoplasms	1	CTD_human
Tgene	PRKACA	C0206698	Cholangiocarcinoma	1	CTD_human
Tgene	PRKACA	C0334287	Fibrolamellar Hepatocellular Carcinoma	1	ORPHANET
Tgene	PRKACA	C0345905	Intrahepatic Cholangiocarcinoma	1	CTD_human
Tgene	PRKACA	C0400966	Non-alcoholic Fatty Liver Disease	1	CTD_human
Tgene	PRKACA	C0750887	Adrenal Cancer	1	CTD_human
Tgene	PRKACA	C3241937	Nonalcoholic Steatohepatitis	1	CTD_human
Tgene	PRKACA	C3805278	Extrahepatic Cholangiocarcinoma	1	CTD_human
Tgene	PRKACA	C4304832	Primary pigmented nodular adrenocortical disease	1	ORPHANET