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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:AGTPBP1-GNAQ

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: AGTPBP1-GNAQ
	FusionPDB ID: 3022
	FusionGDB2.0 ID: 3022
		Hgene	Tgene
	Gene symbol	AGTPBP1	GNAQ
	Gene ID	23287	2776
	Gene name	ATP/GTP binding protein 1	G protein subunit alpha q
	Synonyms	CCP1\|CONDCA\|NNA1	CMC1\|G-ALPHA-q\|GAQ\|SWS
	Cytomap	9q21.33	9q21.2
	Type of gene	protein-coding	protein-coding
	Description	cytosolic carboxypeptidase 1carboxypeptidase-tubulinnervous system nuclear protein induced by axotomy protein 1 homologsoluble carboxypeptidasetubulinyl-Tyr carboxypeptidasetyrosine carboxypeptidase	guanine nucleotide-binding protein G(q) subunit alphaepididymis secretory sperm binding proteinguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-q
	Modification date	20200313	20200313
	UniProtAcc	Q9UPW5	P50148
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000491784, ENST00000337006, ENST00000357081, ENST00000376080, ENST00000376081, ENST00000376083, ENST00000376109, ENST00000432218,	ENST00000286548, ENST00000397476,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	15 X 12 X 4=720	7 X 7 X 3=147
	# samples	15	8
	** MAII score	log2(15/720*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: AGTPBP1 [Title/Abstract] AND GNAQ [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	AGTPBP1(88292350)-GNAQ(80336429), # samples:1 AGTPBP1(88292351)-GNAQ(80336429), # samples:1
Anticipated loss of major functional domain due to fusion event.	AGTPBP1-GNAQ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AGTPBP1-GNAQ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AGTPBP1-GNAQ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. AGTPBP1-GNAQ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. AGTPBP1-GNAQ seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. AGTPBP1-GNAQ seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. AGTPBP1-GNAQ seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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)

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

Fusion gene breakpoints across AGTPBP1 (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 GNAQ (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	ESCA	TCGA-V5-AASW	AGTPBP1	chr9	88292350	-	GNAQ	chr9	80336429	-
ChimerDB4	ESCA	TCGA-V5-AASW	AGTPBP1	chr9	88292351	-	GNAQ	chr9	80336429	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000376083	AGTPBP1	chr9	88292350	-	ENST00000286548	GNAQ	chr9	80336429	-	5940	513	77	703	208
ENST00000357081	AGTPBP1	chr9	88292350	-	ENST00000286548	GNAQ	chr9	80336429	-	6008	581	145	771	208
ENST00000376109	AGTPBP1	chr9	88292350	-	ENST00000286548	GNAQ	chr9	80336429	-	6086	659	52	849	265
ENST00000432218	AGTPBP1	chr9	88292350	-	ENST00000286548	GNAQ	chr9	80336429	-	5657	230	1	420	139
ENST00000376081	AGTPBP1	chr9	88292350	-	ENST00000286548	GNAQ	chr9	80336429	-	6010	583	147	773	208
ENST00000376083	AGTPBP1	chr9	88292351	-	ENST00000286548	GNAQ	chr9	80336429	-	5940	513	77	703	208
ENST00000357081	AGTPBP1	chr9	88292351	-	ENST00000286548	GNAQ	chr9	80336429	-	6008	581	145	771	208
ENST00000376109	AGTPBP1	chr9	88292351	-	ENST00000286548	GNAQ	chr9	80336429	-	6086	659	52	849	265
ENST00000432218	AGTPBP1	chr9	88292351	-	ENST00000286548	GNAQ	chr9	80336429	-	5657	230	1	420	139
ENST00000376081	AGTPBP1	chr9	88292351	-	ENST00000286548	GNAQ	chr9	80336429	-	6010	583	147	773	208

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
ENST00000376083	ENST00000286548	AGTPBP1	chr9	88292350	-	GNAQ	chr9	80336429	-	0.000789969	0.99921
ENST00000357081	ENST00000286548	AGTPBP1	chr9	88292350	-	GNAQ	chr9	80336429	-	0.000791281	0.99920875
ENST00000376109	ENST00000286548	AGTPBP1	chr9	88292350	-	GNAQ	chr9	80336429	-	0.000146889	0.99985313
ENST00000432218	ENST00000286548	AGTPBP1	chr9	88292350	-	GNAQ	chr9	80336429	-	0.041412026	0.95858794
ENST00000376081	ENST00000286548	AGTPBP1	chr9	88292350	-	GNAQ	chr9	80336429	-	0.000790329	0.99920964
ENST00000376083	ENST00000286548	AGTPBP1	chr9	88292351	-	GNAQ	chr9	80336429	-	0.000789969	0.99921
ENST00000357081	ENST00000286548	AGTPBP1	chr9	88292351	-	GNAQ	chr9	80336429	-	0.000791281	0.99920875
ENST00000376109	ENST00000286548	AGTPBP1	chr9	88292351	-	GNAQ	chr9	80336429	-	0.000146889	0.99985313
ENST00000432218	ENST00000286548	AGTPBP1	chr9	88292351	-	GNAQ	chr9	80336429	-	0.041412026	0.95858794
ENST00000376081	ENST00000286548	AGTPBP1	chr9	88292351	-	GNAQ	chr9	80336429	-	0.000790329	0.99920964

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>3022_3022_1_AGTPBP1-GNAQ_AGTPBP1_chr9_88292350_ENST00000357081_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=208AA_BP=143
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSIL
VELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCA

--------------------------------------------------------------

>3022_3022_2_AGTPBP1-GNAQ_AGTPBP1_chr9_88292350_ENST00000376081_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=208AA_BP=143
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSIL
VELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCA

--------------------------------------------------------------

>3022_3022_3_AGTPBP1-GNAQ_AGTPBP1_chr9_88292350_ENST00000376083_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=208AA_BP=143
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSIL
VELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCA

--------------------------------------------------------------

>3022_3022_4_AGTPBP1-GNAQ_AGTPBP1_chr9_88292350_ENST00000376109_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=265AA_BP=200
MTLPGMRTGSAASSAAAAAAAAAASASPATGVCMKTPGGGRRGIRRDPGAEPGAAALRGPRQRPILSRLTNNSRIVGLLAQLEKINAEPS
ESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMNASK

--------------------------------------------------------------

>3022_3022_5_AGTPBP1-GNAQ_AGTPBP1_chr9_88292350_ENST00000432218_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=139AA_BP=74
LLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFIL

--------------------------------------------------------------

>3022_3022_6_AGTPBP1-GNAQ_AGTPBP1_chr9_88292351_ENST00000357081_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=208AA_BP=143
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSIL
VELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCA

--------------------------------------------------------------

>3022_3022_7_AGTPBP1-GNAQ_AGTPBP1_chr9_88292351_ENST00000376081_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=208AA_BP=143
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSIL
VELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCA

--------------------------------------------------------------

>3022_3022_8_AGTPBP1-GNAQ_AGTPBP1_chr9_88292351_ENST00000376083_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=208AA_BP=143
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSIL
VELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFILKMFVDLNPDSDKIIYSHFTCA

--------------------------------------------------------------

>3022_3022_9_AGTPBP1-GNAQ_AGTPBP1_chr9_88292351_ENST00000376109_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=265AA_BP=200
MTLPGMRTGSAASSAAAAAAAAAASASPATGVCMKTPGGGRRGIRRDPGAEPGAAALRGPRQRPILSRLTNNSRIVGLLAQLEKINAEPS
ESDTARYVTSKILHLAQSQEKTRREMTAKGSTGMEILLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMNASK

--------------------------------------------------------------

>3022_3022_10_AGTPBP1-GNAQ_AGTPBP1_chr9_88292351_ENST00000432218_GNAQ_chr9_80336429_ENST00000286548_length(amino acids)=139AA_BP=74
LLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMNASKESPPHEDLMVQIHSILAKIGPKGPQRDAQAAREFIL

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:88292350/chr9:80336429)
- 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.

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

Hgene	Tgene
AGTPBP1 Q9UPW5	GNAQ P50148
FUNCTION: Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins (PubMed:30420557). Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. {ECO:0000250\|UniProtKB:Q641K1, ECO:0000269\|PubMed:30420557}.	FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs). {ECO:0000250, ECO:0000269\|PubMed:27852822}.

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.

- 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

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

329_334

296.3333333333333

360.0

Region

G5 motif

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

329_334

296.3333333333333

360.0

Region

G5 motif

- 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

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

38_359

296.3333333333333

360.0

Domain

G-alpha

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

38_359

296.3333333333333

360.0

Domain

G-alpha

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

180_186

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

205_209

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

274_277

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

46_53

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

180_186

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

205_209

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

274_277

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

46_53

296.3333333333333

360.0

Nucleotide binding

GTP

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

178_186

296.3333333333333

360.0

Region

G2 motif

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

201_210

296.3333333333333

360.0

Region

G3 motif

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

270_277

296.3333333333333

360.0

Region

G4 motif

Tgene

GNAQ

chr9:88292350

chr9:80336429

ENST00000286548

41_54

296.3333333333333

360.0

Region

G1 motif

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

178_186

296.3333333333333

360.0

Region

G2 motif

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

201_210

296.3333333333333

360.0

Region

G3 motif

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

270_277

296.3333333333333

360.0

Region

G4 motif

Tgene

GNAQ

chr9:88292351

chr9:80336429

ENST00000286548

41_54

296.3333333333333

360.0

Region

G1 motif

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
AGTPBP1
GNAQ

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to AGTPBP1-GNAQ

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to AGTPBP1-GNAQ

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source