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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ARHGAP32-TP53AIP1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ARHGAP32-TP53AIP1
	FusionPDB ID: 6078
	FusionGDB2.0 ID: 6078
		Hgene	Tgene
	Gene symbol	ARHGAP32	TP53AIP1
	Gene ID	9743	63970
	Gene name	Rho GTPase activating protein 32	tumor protein p53 regulated apoptosis inducing protein 1
	Synonyms	GC-GAP\|GRIT\|PX-RICS\|RICS\|p200RhoGAP\|p250GAP	P53AIP1
	Cytomap	11q24.3	11q24.3
	Type of gene	protein-coding	protein-coding
	Description	rho GTPase-activating protein 32GAB-associated CDC42GAB-associated Cdc42/Rac GTPase-activating proteinGTPase regulator interacting with TrkAGTPase-activating protein for Cdc42 and Rac1RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signa	p53-regulated apoptosis-inducing protein 1
	Modification date	20200327	20200320
	UniProtAcc	A7KAX9	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000310343, ENST00000524655, ENST00000392657, ENST00000527272,	ENST00000530777, ENST00000602346, ENST00000458238, ENST00000531399,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	10 X 9 X 5=450	1 X 1 X 1=1
	# samples	11	1
	** MAII score	log2(11/450*10)=-2.03242147769238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)	PubMed: ARHGAP32 [Title/Abstract] AND TP53AIP1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ARHGAP32(128963516)-TP53AIP1(128806544), # samples:2
Anticipated loss of major functional domain due to fusion event.	ARHGAP32-TP53AIP1 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. ARHGAP32-TP53AIP1 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.

* 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 ARHGAP32 (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 TP53AIP1 (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	LUSC	TCGA-52-7810-01A	ARHGAP32	chr11	128963516	-	TP53AIP1	chr11	128806544	-
ChimerDB4	LUSC	TCGA-52-7810	ARHGAP32	chr11	128963516	-	TP53AIP1	chr11	128806544	-

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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)
ENST00000310343	ARHGAP32	chr11	128963516	-	ENST00000458238	TP53AIP1	chr11	128806544	-	915	489	0	608	202
ENST00000310343	ARHGAP32	chr11	128963516	-	ENST00000531399	TP53AIP1	chr11	128806544	-	944	489	0	722	240
ENST00000524655	ARHGAP32	chr11	128963516	-	ENST00000458238	TP53AIP1	chr11	128806544	-	717	291	696	253	147
ENST00000524655	ARHGAP32	chr11	128963516	-	ENST00000531399	TP53AIP1	chr11	128806544	-	746	291	24	524	166

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
ENST00000310343	ENST00000458238	ARHGAP32	chr11	128963516	-	TP53AIP1	chr11	128806544	-	0.003153913	0.996846
ENST00000310343	ENST00000531399	ARHGAP32	chr11	128963516	-	TP53AIP1	chr11	128806544	-	0.007127737	0.99287224
ENST00000524655	ENST00000458238	ARHGAP32	chr11	128963516	-	TP53AIP1	chr11	128806544	-	0.05925051	0.9407495
ENST00000524655	ENST00000531399	ARHGAP32	chr11	128963516	-	TP53AIP1	chr11	128806544	-	0.051830094	0.9481699

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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

>6078_6078_1_ARHGAP32-TP53AIP1_ARHGAP32_chr11_128963516_ENST00000310343_TP53AIP1_chr11_128806544_ENST00000458238_length(amino acids)=202AA_BP=0
METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTL
KTCGSTASMKVKHVKKLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQVSDPLVLGAQVHGGCRG

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

>6078_6078_2_ARHGAP32-TP53AIP1_ARHGAP32_chr11_128963516_ENST00000310343_TP53AIP1_chr11_128806544_ENST00000531399_length(amino acids)=240AA_BP=0
METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTL
KTCGSTASMKVKHVKKLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQVSDPLVLGAQVHGGCRG

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

>6078_6078_3_ARHGAP32-TP53AIP1_ARHGAP32_chr11_128963516_ENST00000524655_TP53AIP1_chr11_128806544_ENST00000458238_length(amino acids)=147AA_BP=1
MEGEPRMHKGGSAERDPQGREKSQCRLWHPMWAIEVMPTGDPRKCHVDYGSAAAHPGKLGDLHTNAFPPLVKGCPGAFNSQNFRMRQLCT

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

>6078_6078_4_ARHGAP32-TP53AIP1_ARHGAP32_chr11_128963516_ENST00000524655_TP53AIP1_chr11_128806544_ENST00000531399_length(amino acids)=166AA_BP=1
MARGADVPEIPGDLTLKTCGSTASMKVKHVKKLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQV

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

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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/chr11:128963516/chr11:128806544)
- 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
ARHGAP32 A7KAX9	.
FUNCTION: GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity). {ECO:0000250, ECO:0000269\|PubMed:12446789, ECO:0000269\|PubMed:12454018, ECO:0000269\|PubMed:12531901, ECO:0000269\|PubMed:12788081, ECO:0000269\|PubMed:12819203, ECO:0000269\|PubMed:12857875, ECO:0000269\|PubMed:17663722}.	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.

- 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

- 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

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000310343

1031_1036

163.0

2088.0

Compositional bias

Note=Poly-Pro

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000310343

1305_1310

163.0

2088.0

Compositional bias

Note=Poly-Pro

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000392657

1031_1036

1739.0

Compositional bias

Note=Poly-Pro

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000392657

1305_1310

1739.0

Compositional bias

Note=Poly-Pro

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000527272

1031_1036

1739.0

Compositional bias

Note=Poly-Pro

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000527272

1305_1310

1739.0

Compositional bias

Note=Poly-Pro

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000310343

131_245

163.0

2088.0

Domain

Note=PX%3B atypical

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000310343

259_321

163.0

2088.0

Domain

SH3

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000310343

372_567

163.0

2088.0

Domain

Rho-GAP

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000392657

131_245

1739.0

Domain

Note=PX%3B atypical

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000392657

259_321

1739.0

Domain

SH3

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000392657

372_567

1739.0

Domain

Rho-GAP

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000527272

131_245

1739.0

Domain

Note=PX%3B atypical

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000527272

259_321

1739.0

Domain

SH3

Hgene

ARHGAP32

chr11:128963516

chr11:128806544

ENST00000527272

372_567

1739.0

Domain

Rho-GAP

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>381_ARHGAP32_128963516_TP53AIP1_128806544_ranked_0.pdb	ARHGAP32	128963516	128963516	ENST00000531399	TP53AIP1	chr11	128806544	-	METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTL KTCGSTASMKVKHVKKLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQVSDPLVLGAQVHGGCRG	240

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ARHGAP32_pLDDT.png

TP53AIP1_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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

ARHGAP32

SFN, GRIN2B, RHOA, CDC42, GAB2, GAB1, RAC1, CRK, NCK1, BCAR1, FYN, NTRK1, CRKL, SHC2, SHC3, SRC, PLCG1, PIK3R1, GRB2, ARRB1, NPHP1, ATXN1, FZR1, SMURF1, AES, MDFI, NCK2, DZIP3, ABI2, LZTS2, NXF1, EGFR, SHC1, ZWINT, HNRNPD, SORT1, SYNCRIP, SGTB, Cct4, Mad2l1bp, CDH1, PTPRK, ASB3, TRIM25, EGLN3, ESR2, KRAS, KIAA1429, BICD1, LHX2, OBSL1, CUL7, GOLGA2, ARHGAP24, CPEB4, RC3H1, ZFP36, CEP85, KIAA0355, CIT, GPHN, SEC61B, CBS, CHN1, PRDX4, SEC16A, M, NR3C1, ARF6, C11orf52, CAV1, CEP135, CTNNA1, CTNNB1, CXADR, FLOT1, GJA1, KRT19, LCK, LYN, MLLT4, OCLN, PARD3, PRPH, RAB35, RHOB, SQSTM1, STIL, SYNE3, ZYX, VPS33A, YWHAB, CCL3, YWHAG, YWHAQ, YWHAH, TRIM52, VBP1, PFDN1, LOXL4, PFDN2, PFDN4, CLEC11A, CRYBB3, B4GALT2, KLHL14, SULT1C4, HDHD1, CAMK2A, ETV6,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ARHGAP32
TP53AIP1

- 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
Hgene	ARHGAP32	chr11:128963516	chr11:128806544	ENST00000310343	-	5	22	1685_2087	163.0	2088.0	FYN
Hgene	ARHGAP32	chr11:128963516	chr11:128806544	ENST00000392657	-	1	13	1685_2087	0	1739.0	FYN
Hgene	ARHGAP32	chr11:128963516	chr11:128806544	ENST00000527272	-	1	12	1685_2087	0	1739.0	FYN
Hgene	ARHGAP32	chr11:128963516	chr11:128806544	ENST00000310343	-	5	22	1391_1711	163.0	2088.0	GAB2
Hgene	ARHGAP32	chr11:128963516	chr11:128806544	ENST00000392657	-	1	13	1391_1711	0	1739.0	GAB2
Hgene	ARHGAP32	chr11:128963516	chr11:128806544	ENST00000527272	-	1	12	1391_1711	0	1739.0	GAB2

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Related Drugs to ARHGAP32-TP53AIP1

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 ARHGAP32-TP53AIP1

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
Hgene	ARHGAP32	C0036341	Schizophrenia	1	PSYGENET