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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:AHI1-RPL22

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: AHI1-RPL22
	FusionPDB ID: 3097
	FusionGDB2.0 ID: 3097
		Hgene	Tgene
	Gene symbol	AHI1	RPL22
	Gene ID	54806	6146
	Gene name	Abelson helper integration site 1	ribosomal protein L22
	Synonyms	AHI-1\|JBTS3\|ORF1\|dJ71N10.1	EAP\|HBP15\|HBP15/L22\|L22
	Cytomap	6q23.3	1p36.31
	Type of gene	protein-coding	protein-coding
	Description	jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains	60S ribosomal protein L22EBER-associated proteinEpstein-Barr virus small RNA-associated proteinEpstein-Barr-encoded RNA-associated proteinheparin-binding protein 15heparin-binding protein HBp15large ribosomal subunit protein eL22
	Modification date	20200313	20200313
	UniProtAcc	Q8N157	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000327035, ENST00000367798, ENST00000367800, ENST00000457866, ENST00000488690, ENST00000417892, ENST00000528103, ENST00000531527, ENST00000534469,	ENST00000497965, ENST00000234875, ENST00000484532,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	10 X 11 X 6=660	11 X 8 X 6=528
	# samples	10	12
	** MAII score	log2(10/660*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: AHI1 [Title/Abstract] AND RPL22 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	AHI1(135811761)-RPL22(6257816), # samples:1
Anticipated loss of major functional domain due to fusion event.	AHI1-RPL22 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. AHI1-RPL22 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. AHI1-RPL22 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. AHI1-RPL22 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. AHI1-RPL22 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AHI1-RPL22 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. AHI1-RPL22 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. AHI1-RPL22 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 AHI1 (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 RPL22 (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	STAD	TCGA-HU-A4HB-01A	AHI1	chr6	135811761	-	RPL22	chr1	6257816	-

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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)
ENST00000457866	AHI1	chr6	135811761	-	ENST00000484532	RPL22	chr1	6257816	-	883	434	803	411	130
ENST00000457866	AHI1	chr6	135811761	-	ENST00000234875	RPL22	chr1	6257816	-	2461	434	299	808	169
ENST00000327035	AHI1	chr6	135811761	-	ENST00000484532	RPL22	chr1	6257816	-	863	414	783	391	130
ENST00000327035	AHI1	chr6	135811761	-	ENST00000234875	RPL22	chr1	6257816	-	2441	414	279	788	169

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
ENST00000457866	ENST00000484532	AHI1	chr6	135811761	-	RPL22	chr1	6257816	-	0.12105141	0.87894857
ENST00000457866	ENST00000234875	AHI1	chr6	135811761	-	RPL22	chr1	6257816	-	0.002537533	0.9974624
ENST00000327035	ENST00000484532	AHI1	chr6	135811761	-	RPL22	chr1	6257816	-	0.14712591	0.85287404
ENST00000327035	ENST00000234875	AHI1	chr6	135811761	-	RPL22	chr1	6257816	-	0.002223588	0.99777645

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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

>3097_3097_1_AHI1-RPL22_AHI1_chr6_135811761_ENST00000327035_RPL22_chr1_6257816_ENST00000234875_length(amino acids)=169AA_BP=45
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISKKLVVKGGKKKKQVLKFTLDCTHPVEDGIMDAANFEQFLQERIKV

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

>3097_3097_2_AHI1-RPL22_AHI1_chr6_135811761_ENST00000327035_RPL22_chr1_6257816_ENST00000484532_length(amino acids)=130AA_BP=1
MHSSLGKERSVQPSGTKDWGVGNPSISQIRFNYAVDREAGSAQCWPPFGERHLGCHGDLALAPFDGHHPSTKVPSFSVHFDPFLQKLLKI

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

>3097_3097_3_AHI1-RPL22_AHI1_chr6_135811761_ENST00000457866_RPL22_chr1_6257816_ENST00000234875_length(amino acids)=169AA_BP=45
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISKKLVVKGGKKKKQVLKFTLDCTHPVEDGIMDAANFEQFLQERIKV

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

>3097_3097_4_AHI1-RPL22_AHI1_chr6_135811761_ENST00000457866_RPL22_chr1_6257816_ENST00000484532_length(amino acids)=130AA_BP=1
MHSSLGKERSVQPSGTKDWGVGNPSISQIRFNYAVDREAGSAQCWPPFGERHLGCHGDLALAPFDGHHPSTKVPSFSVHFDPFLQKLLKI

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

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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/chr6:135811761/chr1:6257816)
- 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
AHI1 Q8N157	.
FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250\|UniProtKB:Q8K3E5, ECO:0000269\|PubMed:21623382}.	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

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

13_45

45.0

1054.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

13_45

45.0

1197.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

13_45

45.0

1197.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

RPL22

chr6:135811761

chr1:6257816

ENST00000234875

120_128

4.0

129.0

Compositional bias

Note=Asp/Glu-rich (highly acidic)

- 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

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

234_239

45.0

1054.0

Compositional bias

Note=Poly-Lys

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

234_239

45.0

1197.0

Compositional bias

Note=Poly-Lys

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

234_239

45.0

1197.0

Compositional bias

Note=Poly-Lys

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

1051_1111

45.0

1054.0

Domain

SH3

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

1051_1111

45.0

1197.0

Domain

SH3

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

1051_1111

45.0

1197.0

Domain

SH3

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

607_649

45.0

1054.0

Repeat

Note=WD 1

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

652_691

45.0

1054.0

Repeat

Note=WD 2

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

695_735

45.0

1054.0

Repeat

Note=WD 3

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

742_781

45.0

1054.0

Repeat

Note=WD 4

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

797_837

45.0

1054.0

Repeat

Note=WD 5

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

841_880

45.0

1054.0

Repeat

Note=WD 6

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000327035

885_926

45.0

1054.0

Repeat

Note=WD 7

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

607_649

45.0

1197.0

Repeat

Note=WD 1

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

652_691

45.0

1197.0

Repeat

Note=WD 2

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

695_735

45.0

1197.0

Repeat

Note=WD 3

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

742_781

45.0

1197.0

Repeat

Note=WD 4

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

797_837

45.0

1197.0

Repeat

Note=WD 5

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

841_880

45.0

1197.0

Repeat

Note=WD 6

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000367800

885_926

45.0

1197.0

Repeat

Note=WD 7

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

607_649

45.0

1197.0

Repeat

Note=WD 1

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

652_691

45.0

1197.0

Repeat

Note=WD 2

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

695_735

45.0

1197.0

Repeat

Note=WD 3

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

742_781

45.0

1197.0

Repeat

Note=WD 4

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

797_837

45.0

1197.0

Repeat

Note=WD 5

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

841_880

45.0

1197.0

Repeat

Note=WD 6

Hgene

AHI1

chr6:135811761

chr1:6257816

ENST00000457866

885_926

45.0

1197.0

Repeat

Note=WD 7

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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
AHI1
RPL22

- 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	AHI1	chr6:135811761	chr1:6257816	ENST00000327035	-	4	23	141_434	45.0	1054.0	HAP1
Hgene	AHI1	chr6:135811761	chr1:6257816	ENST00000367800	-	3	27	141_434	45.0	1197.0	HAP1
Hgene	AHI1	chr6:135811761	chr1:6257816	ENST00000457866	-	4	28	141_434	45.0	1197.0	HAP1

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Related Drugs to AHI1-RPL22

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 AHI1-RPL22

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