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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:RGS22-NIPAL2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: RGS22-NIPAL2
	FusionPDB ID: 73820
	FusionGDB2.0 ID: 73820
		Hgene	Tgene
	Gene symbol	RGS22	NIPAL2
	Gene ID	26166	79815
	Gene name	regulator of G protein signaling 22	NIPA like domain containing 2
	Synonyms	CT145\|PRTD-NY2	NPAL2
	Cytomap	8q22.2	8q22.2
	Type of gene	protein-coding	protein-coding
	Description	regulator of G-protein signaling 22	NIPA-like protein 2
	Modification date	20200320	20200313
	UniProtAcc	Q8NE09	Q9H841
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000360863, ENST00000523287, ENST00000523437, ENST00000519421,	ENST00000520545, ENST00000341166, ENST00000430223,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	4 X 4 X 3=48	8 X 7 X 8=448
	# samples	4	11
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/448*10)=-2.02599520853294 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: RGS22 [Title/Abstract] AND NIPAL2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	NIPAL2(99306231)-RGS22(100977658), # samples:3 RGS22(101059691)-NIPAL2(99266315), # samples:1
Anticipated loss of major functional domain due to fusion event.	NIPAL2-RGS22 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. NIPAL2-RGS22 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. RGS22-NIPAL2 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. RGS22-NIPAL2 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. RGS22-NIPAL2 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. RGS22-NIPAL2 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. RGS22-NIPAL2 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 RGS22 (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 NIPAL2 (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	LUAD	TCGA-49-4490-01A	RGS22	chr8	101059691	-	NIPAL2	chr8	99266315	-

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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)
ENST00000360863	RGS22	chr8	101059691	-	ENST00000430223	NIPAL2	chr8	99266315	-	6180	2018	195	2051	618
ENST00000360863	RGS22	chr8	101059691	-	ENST00000341166	NIPAL2	chr8	99266315	-	6208	2018	195	2051	618
ENST00000523437	RGS22	chr8	101059691	-	ENST00000430223	NIPAL2	chr8	99266315	-	5990	1828	41	1861	606
ENST00000523437	RGS22	chr8	101059691	-	ENST00000341166	NIPAL2	chr8	99266315	-	6018	1828	41	1861	606

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
ENST00000360863	ENST00000430223	RGS22	chr8	101059691	-	NIPAL2	chr8	99266315	-	0.00043589	0.9995641
ENST00000360863	ENST00000341166	RGS22	chr8	101059691	-	NIPAL2	chr8	99266315	-	0.000443892	0.9995561
ENST00000523437	ENST00000430223	RGS22	chr8	101059691	-	NIPAL2	chr8	99266315	-	0.000551161	0.99944884
ENST00000523437	ENST00000341166	RGS22	chr8	101059691	-	NIPAL2	chr8	99266315	-	0.000562565	0.9994374

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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

>73820_73820_1_RGS22-NIPAL2_RGS22_chr8_101059691_ENST00000360863_NIPAL2_chr8_99266315_ENST00000341166_length(amino acids)=618AA_BP=
MPEKRLTAEPPTITEEEFEDSLATDDFLVDYFNEFLSLPTFSEAIRFNADYGVFEVANDAPQFLEKQLKKILQNQQPRNPIYDVVRKGKN
EVKPVQMNAPDEDETINVNYNIMCLSREEGIKWIKKERLPAFLESDCYFEYRLAKLVSQVRWSKSGMNFTVGSNFSPWIVKKPPSLPPPA
TEEDNLVIMKKFYVSLGEASYTQTKDWFALAKQSQQTVSTFSLPCCVPYNKLKSPAISSVSENFIFDDGVHPRTKKDPSKTNKLISEFEE
EEGEEEEVSVSLQDTPSQALLRVYLEKKQDVDESLTMHFSTCEEFLSSYIYFILRGAIQQIVGKPVGETPDYINFNNITKVSFDDCFESI
HGKNFLSELVQTTKERSEEIEQTSLSSKNESAGPESRADWCISHRTYDIGNRKEFERFKKFIKGTLGERYWWLWMDIERLKVLKDPGRHQ
RHLEKMKKCYLVSNGDYYLSAEILSKFKLLDGSQWNEEHLRNIQSEVLKPLLLYWAPRFCVTHSASTKYASAELKFWHLRQAKPRKDIDP

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

>73820_73820_2_RGS22-NIPAL2_RGS22_chr8_101059691_ENST00000360863_NIPAL2_chr8_99266315_ENST00000430223_length(amino acids)=618AA_BP=
MPEKRLTAEPPTITEEEFEDSLATDDFLVDYFNEFLSLPTFSEAIRFNADYGVFEVANDAPQFLEKQLKKILQNQQPRNPIYDVVRKGKN
EVKPVQMNAPDEDETINVNYNIMCLSREEGIKWIKKERLPAFLESDCYFEYRLAKLVSQVRWSKSGMNFTVGSNFSPWIVKKPPSLPPPA
TEEDNLVIMKKFYVSLGEASYTQTKDWFALAKQSQQTVSTFSLPCCVPYNKLKSPAISSVSENFIFDDGVHPRTKKDPSKTNKLISEFEE
EEGEEEEVSVSLQDTPSQALLRVYLEKKQDVDESLTMHFSTCEEFLSSYIYFILRGAIQQIVGKPVGETPDYINFNNITKVSFDDCFESI
HGKNFLSELVQTTKERSEEIEQTSLSSKNESAGPESRADWCISHRTYDIGNRKEFERFKKFIKGTLGERYWWLWMDIERLKVLKDPGRHQ
RHLEKMKKCYLVSNGDYYLSAEILSKFKLLDGSQWNEEHLRNIQSEVLKPLLLYWAPRFCVTHSASTKYASAELKFWHLRQAKPRKDIDP

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

>73820_73820_3_RGS22-NIPAL2_RGS22_chr8_101059691_ENST00000523437_NIPAL2_chr8_99266315_ENST00000341166_length(amino acids)=606AA_BP=
MPEKRLTAEPPTITEEEFEDSLATDDFLVDYFNEFLSLPTFSEAIRFNADYGVFEVANDAPQFLEKQLKKILQNQQPRNPIYDVVRKGKN
EVKPVQMNAPDEDETINVNYNIMCLSREEGIKWIKKERLPAFLESDCYFEYRLAKLVSQVRWSKSGMNFTVGSNFSPWIVKKPPSLPPPA
TEEDNLASYTQTKDWFALAKQSQQTVSTFSLPCCVPYNKLKSPAISSVSENFIFDDGVHPRTKKDPSKTNKLISEFEEEEGEEEEVSVSL
QDTPSQALLRVYLEKKQDVDESLTMHFSTCEEFLSSYIYFILRGAIQQIVGKPVGETPDYINFNNITKVSFDDCFESIHGKNFLSELVQT
TKERSEEIEQTSLSSKNESAGPESRADWCISHRTYDIGNRKEFERFKKFIKGTLGERYWWLWMDIERLKVLKDPGRHQRHLEKMKKCYLV
SNGDYYLSAEILSKFKLLDGSQWNEEHLRNIQSEVLKPLLLYWAPRFCVTHSASTKYASAELKFWHLRQAKPRKDIDPFPQMATLLPLRP

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

>73820_73820_4_RGS22-NIPAL2_RGS22_chr8_101059691_ENST00000523437_NIPAL2_chr8_99266315_ENST00000430223_length(amino acids)=606AA_BP=
MPEKRLTAEPPTITEEEFEDSLATDDFLVDYFNEFLSLPTFSEAIRFNADYGVFEVANDAPQFLEKQLKKILQNQQPRNPIYDVVRKGKN
EVKPVQMNAPDEDETINVNYNIMCLSREEGIKWIKKERLPAFLESDCYFEYRLAKLVSQVRWSKSGMNFTVGSNFSPWIVKKPPSLPPPA
TEEDNLASYTQTKDWFALAKQSQQTVSTFSLPCCVPYNKLKSPAISSVSENFIFDDGVHPRTKKDPSKTNKLISEFEEEEGEEEEVSVSL
QDTPSQALLRVYLEKKQDVDESLTMHFSTCEEFLSSYIYFILRGAIQQIVGKPVGETPDYINFNNITKVSFDDCFESIHGKNFLSELVQT
TKERSEEIEQTSLSSKNESAGPESRADWCISHRTYDIGNRKEFERFKKFIKGTLGERYWWLWMDIERLKVLKDPGRHQRHLEKMKKCYLV
SNGDYYLSAEILSKFKLLDGSQWNEEHLRNIQSEVLKPLLLYWAPRFCVTHSASTKYASAELKFWHLRQAKPRKDIDPFPQMATLLPLRP

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

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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/chr8:99306231/chr8:100977658)
- 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
RGS22 Q8NE09	NIPAL2 Q9H841
FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. {ECO:0000250}.

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

Hgene

RGS22

chr8:101059691

chr8:99266315

ENST00000360863

267_277

607.6666666666666

1285.6666666666667

Compositional bias

Note=Poly-Glu

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

110_130

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

144_164

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

177_197

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

209_229

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

243_263

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

278_298

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

306_326

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

46_66

45.0

369.0

Transmembrane

Helical

Tgene

NIPAL2

chr8:101059691

chr8:99266315

ENST00000341166

88_108

45.0

369.0

Transmembrane

Helical

- 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

RGS22

chr8:101059691

chr8:99266315

ENST00000360863

1142_1174

607.6666666666666

1285.6666666666667

Coiled coil

Ontology_term=ECO:0000255

Hgene

RGS22

chr8:101059691

chr8:99266315

ENST00000360863

767_771

607.6666666666666

1285.6666666666667

Compositional bias

Note=Poly-Leu

Hgene

RGS22

chr8:101059691

chr8:99266315

ENST00000360863

1021_1145

607.6666666666666

1285.6666666666667

Domain

RGS 2

Hgene

RGS22

chr8:101059691

chr8:99266315

ENST00000360863

852_980

607.6666666666666

1285.6666666666667

Domain

RGS 1

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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
RGS22	FBXO7, PSMD14, STAU1, PDIA6,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
RGS22
NIPAL2

- 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 RGS22-NIPAL2

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 RGS22-NIPAL2

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