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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AHI1-RPL22 (FusionGDB2 ID:HG54806TG6146)

Fusion Gene Summary for AHI1-RPL22

check button Fusion gene summary
Fusion gene informationFusion gene name: AHI1-RPL22
Fusion gene ID: hg54806tg6146
HgeneTgene
Gene symbol

AHI1

RPL22

Gene ID

54806

6146

Gene nameAbelson helper integration site 1ribosomal protein L22
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1EAP|HBP15|HBP15/L22|L22
Cytomap('AHI1')('RPL22')

6q23.3

1p36.31

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains60S 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 date2020031320200313
UniProtAcc

Q8N157

.
Ensembl transtripts involved in fusion geneENST00000327035, ENST00000367798, 
ENST00000367800, ENST00000457866, 
ENST00000488690, ENST00000417892, 
ENST00000528103, ENST00000531527, 
ENST00000534469, 
Fusion gene scores* DoF score10 X 11 X 6=66011 X 8 X 6=528
# samples 1012
** MAII scorelog2(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

PubMed: AHI1 [Title/Abstract] AND RPL22 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHI1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion 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.
all structure
check buttonFusion 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.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4HB-01AAHI1chr6

135811761

-RPL22chr1

6257816

-


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Fusion Gene ORF analysis for AHI1-RPL22

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000327035ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
5CDS-5UTRENST00000367798ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
5CDS-5UTRENST00000367800ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
5CDS-5UTRENST00000457866ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
5CDS-5UTRENST00000488690ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
Frame-shiftENST00000367798ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
Frame-shiftENST00000367798ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
Frame-shiftENST00000367800ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
Frame-shiftENST00000367800ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
Frame-shiftENST00000488690ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
Frame-shiftENST00000488690ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
In-frameENST00000327035ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
In-frameENST00000327035ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
In-frameENST00000457866ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
In-frameENST00000457866ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000417892ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000417892ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000528103ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000528103ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000531527ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000531527ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000534469ENST00000234875AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-3CDSENST00000534469ENST00000484532AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-5UTRENST00000417892ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-5UTRENST00000528103ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-5UTRENST00000531527ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-
intron-5UTRENST00000534469ENST00000497965AHI1chr6

135811761

-RPL22chr1

6257816

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000457866AHI1chr6135811761-ENST00000484532RPL22chr16257816-883434803411130
ENST00000457866AHI1chr6135811761-ENST00000234875RPL22chr16257816-2461434299808169
ENST00000327035AHI1chr6135811761-ENST00000484532RPL22chr16257816-863414783391130
ENST00000327035AHI1chr6135811761-ENST00000234875RPL22chr16257816-2441414279788169

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000457866ENST00000484532AHI1chr6135811761-RPL22chr16257816-0.121051410.87894857
ENST00000457866ENST00000234875AHI1chr6135811761-RPL22chr16257816-0.0025375330.9974624
ENST00000327035ENST00000484532AHI1chr6135811761-RPL22chr16257816-0.147125910.85287404
ENST00000327035ENST00000234875AHI1chr6135811761-RPL22chr16257816-0.0022235880.99777645

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Fusion Genomic Features for AHI1-RPL22


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.
genomic feature

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Fusion Protein Features for AHI1-RPL22


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
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: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-42313_45451054.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-32713_45451197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-42813_45451197.0Coiled coilOntology_term=ECO:0000255
TgeneRPL22chr6:135811761chr1:6257816ENST0000023487504120_1284129.0Compositional biasNote=Asp/Glu-rich (highly acidic)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423234_239451054.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327234_239451197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428234_239451197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-4231051_1111451054.0DomainSH3
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-3271051_1111451197.0DomainSH3
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-4281051_1111451197.0DomainSH3
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423607_649451054.0RepeatNote=WD 1
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423652_691451054.0RepeatNote=WD 2
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423695_735451054.0RepeatNote=WD 3
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423742_781451054.0RepeatNote=WD 4
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423797_837451054.0RepeatNote=WD 5
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423841_880451054.0RepeatNote=WD 6
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423885_926451054.0RepeatNote=WD 7
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327607_649451197.0RepeatNote=WD 1
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327652_691451197.0RepeatNote=WD 2
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327695_735451197.0RepeatNote=WD 3
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327742_781451197.0RepeatNote=WD 4
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327797_837451197.0RepeatNote=WD 5
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327841_880451197.0RepeatNote=WD 6
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327885_926451197.0RepeatNote=WD 7
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428607_649451197.0RepeatNote=WD 1
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428652_691451197.0RepeatNote=WD 2
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428695_735451197.0RepeatNote=WD 3
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428742_781451197.0RepeatNote=WD 4
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428797_837451197.0RepeatNote=WD 5
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428841_880451197.0RepeatNote=WD 6
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428885_926451197.0RepeatNote=WD 7


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Fusion Gene Sequence for AHI1-RPL22


check button 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.
>3097_3097_1_AHI1-RPL22_AHI1_chr6_135811761_ENST00000327035_RPL22_chr1_6257816_ENST00000234875_length(transcript)=2441nt_BP=414nt
GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA
GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCAGTGTCAACCTGGGGCT
GAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGCATTCTCAGTCCTCTGCATAA
AGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTAAGACCCACAGTGATCTAATG
CGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCAAAAAAGCTTGTGGTGAAGGGGGGCAAAAAAAAGAAG
CAAGTTCTGAAGTTCACTCTTGATTGCACCCACCCTGTAGAAGATGGAATCATGGATGCTGCCAATTTTGAGCAGTTTTTGCAAGAAAGG
ATCAAAGTGAACGGAAAAGCTGGGAACCTTGGTGGAGGGGTGGTGACCATCGAAAGGAGCAAGAGCAAGATCACCGTGACATCCGAGGTG
CCTTTCTCCAAAAGGTATTTGAAATATCTCACCAAAAAATATTTGAAGAAGAATAATCTACGTGACTGGTTGCGCGTAGTTGCTAACAGC
AAAGAGAGTTACGAATTACGTTACTTCCAGATTAACCAGGACGAAGAAGAGGAGGAAGACGAGGATTAAATTTCATTTATCTGGAAAATT
TTGTATGAGTTCTTGAATAAAACTTGGGAACCAAAATGGTGGTTTATCCTTGTATCTCTGCAGTGTGGATTGAACAGAAAATTGGAAATC
ATAGTCAAAGGGCTTCCCTTGGTTCGCCACTCATTTATTTGTAACTTGACTTCTTTTTTTTTCTGCTTAAAAATTTCAATTCTCGTGGTA
ATACCAGAGTAGAAGGAGAGGGTGACTTTACCGAACTGACAGCCATTGGGGAGGCAGATGCGGGTGTGGAGGTGTGGGCTGAAGGTAGTG
ACTGTTTGATTTTAAAAAGTGTGACTGTCAGTTGTATCTGTTGCTTTTCTCAATGATTCAGGGATACAAATGGGCTTCTCTCATTCATTA
AAAGAAAACGCGACATCTTTCTAAGATTCTCTGTGGGAAAATGACTGTCAATAAAATGCGGGTTTCTGGGCCATTCGTCTTACTTTCATT
TTTTGATTACAAATTTCTCTTGACGCACACAATTATGTCTGCTAATCCTCTTCTTCCTAGAGAGAGAAACTGTGCTCCTTCAGTGTTGCT
GCCATAAAGGGGTTTGGGGAATCGATTGTAAAAGTCCCAGGTTCTAAATTAACTAAATGTGTACAGAAATGAACGTGTAAGTAATGTTTC
TACAGGTCTTTGCAACAAACTGTCACTTTCGTCTCCAGCAGAGGGAGCTGTAGGAATAGTGCTTCCAGATGTGGTCTCCCGTGTGGGGCC
CAGCAATGGGGGCCCCTGATGCCAAGAGCTCTGGAGGTTCTTGAAAGAGGGGACACGAAGGAGGAGTGACTGGGAAGCCTCCCATGCCAA
GGAGGTGGGAGGTGCCCTGGAAATAGCTGCCTCATGCCACTTAGGCCATGACTGGATTTAATGTCAGTGGTGTGCCACAGTGCAGAGGCT
AGACAACTGAAAGGGGCTACCAAGGCTGGGAAAAAAATGCAATTGTTGCTGTGAGTGACTTTGAAAGACTCTGGTGCCTTGTGGTGCCCT
TCTGAAATTCAAACAGTAATGCAAAAGTGTCTGCATTAGAATTTACGGTGTCTAAAATTCATGTTTTTAAAAGAGCTTGCCTACAGATGG
TTTCCACACTTGAAATTGTGCCCTGCGAGTTGCATAGCTGGAAGTTCAATGCTCAGTCCTACCTTGGCTCCCATTAAACATTTGGTGCTC
TGTGGATTGAGTTGAACGTGTTGAGGCTTTGCAATTTCACTTGTGTTAAAGGCTCTGGCATTTTTCCATTTCTATGCAAATTTCTTTGAA
GCAGAATTGCTTGCATATTTCTTCTCTGCCGTCACAGAAAGCAGAGTTTCTTTCAAACTTCACTGAGGCATCAGTTGCTCTTTGGCAATG
TCCCTTAACCATGATTATTAACTAAGTTTGTGGCTTGAGTTTACAAATTCTACTTGTTGCATTGATGTTCCCATGTAGTAAGTCATTTTT
AGTTTGGTTGTGAAAAAACCCTGGGCTGAAGTTGGCATTTCAGTTAAAAGAAAAAAAGAAACTAGTCCCAGATTTGAAAACTTGTAATAA
AATTGAAACTCACTGGTTTTCTATGTCTTTTTGAACTCTTGTAATCGAGTTTTGATCATATTTTCTATTAAAGTGGCTAACACCTGGCTA

>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(transcript)=863nt_BP=414nt
GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA
GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCAGTGTCAACCTGGGGCT
GAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGCATTCTCAGTCCTCTGCATAA
AGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTAAGACCCACAGTGATCTAATG
CGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCAGAAAAAGCTTGTGGTGAAGGGGGGCAAAAAAAAGAA
GCAAGTTCTGAAGTTCACTCTTGATTGCACCCACCCTGTAGAAGATGGAATCATGGATGCTGCCAATTTTGAGCAGTTTTTGCAAGAAAG
GATCAAAGTGAACGGAAAAGCTGGGAACCTTGGTGGAGGGGTGGTGACCATCGAAAGGAGCAAGAGCAAGATCACCGTGACATCCGAGGT
GCCTTTCTCCAAAAGGCGGCCAGCACTGGGCTGACCCGGCTTCTCTATCTACAGCGTAGTTAAAGCGGATCTGGGAGATGGAGGGGTTCC
CAACACCCCAGTCTTTGGTTCCAGAAGGCTGGACCGACCTCTCCTTGCCCAGGGATGAATGCAGAGGGTCTTTTGTTTGGGGTTTGCTGG

>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(transcript)=2461nt_BP=434nt
GGCGGCGCGCTGTCCGCACTGCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTC
ACTTCGCGCACGCGCCGCTAGGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTC
TCCAGTGTCAACCTGGGGCTGAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGC
ATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTA
AGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCAAAAAAGCTTGTGGTGA
AGGGGGGCAAAAAAAAGAAGCAAGTTCTGAAGTTCACTCTTGATTGCACCCACCCTGTAGAAGATGGAATCATGGATGCTGCCAATTTTG
AGCAGTTTTTGCAAGAAAGGATCAAAGTGAACGGAAAAGCTGGGAACCTTGGTGGAGGGGTGGTGACCATCGAAAGGAGCAAGAGCAAGA
TCACCGTGACATCCGAGGTGCCTTTCTCCAAAAGGTATTTGAAATATCTCACCAAAAAATATTTGAAGAAGAATAATCTACGTGACTGGT
TGCGCGTAGTTGCTAACAGCAAAGAGAGTTACGAATTACGTTACTTCCAGATTAACCAGGACGAAGAAGAGGAGGAAGACGAGGATTAAA
TTTCATTTATCTGGAAAATTTTGTATGAGTTCTTGAATAAAACTTGGGAACCAAAATGGTGGTTTATCCTTGTATCTCTGCAGTGTGGAT
TGAACAGAAAATTGGAAATCATAGTCAAAGGGCTTCCCTTGGTTCGCCACTCATTTATTTGTAACTTGACTTCTTTTTTTTTCTGCTTAA
AAATTTCAATTCTCGTGGTAATACCAGAGTAGAAGGAGAGGGTGACTTTACCGAACTGACAGCCATTGGGGAGGCAGATGCGGGTGTGGA
GGTGTGGGCTGAAGGTAGTGACTGTTTGATTTTAAAAAGTGTGACTGTCAGTTGTATCTGTTGCTTTTCTCAATGATTCAGGGATACAAA
TGGGCTTCTCTCATTCATTAAAAGAAAACGCGACATCTTTCTAAGATTCTCTGTGGGAAAATGACTGTCAATAAAATGCGGGTTTCTGGG
CCATTCGTCTTACTTTCATTTTTTGATTACAAATTTCTCTTGACGCACACAATTATGTCTGCTAATCCTCTTCTTCCTAGAGAGAGAAAC
TGTGCTCCTTCAGTGTTGCTGCCATAAAGGGGTTTGGGGAATCGATTGTAAAAGTCCCAGGTTCTAAATTAACTAAATGTGTACAGAAAT
GAACGTGTAAGTAATGTTTCTACAGGTCTTTGCAACAAACTGTCACTTTCGTCTCCAGCAGAGGGAGCTGTAGGAATAGTGCTTCCAGAT
GTGGTCTCCCGTGTGGGGCCCAGCAATGGGGGCCCCTGATGCCAAGAGCTCTGGAGGTTCTTGAAAGAGGGGACACGAAGGAGGAGTGAC
TGGGAAGCCTCCCATGCCAAGGAGGTGGGAGGTGCCCTGGAAATAGCTGCCTCATGCCACTTAGGCCATGACTGGATTTAATGTCAGTGG
TGTGCCACAGTGCAGAGGCTAGACAACTGAAAGGGGCTACCAAGGCTGGGAAAAAAATGCAATTGTTGCTGTGAGTGACTTTGAAAGACT
CTGGTGCCTTGTGGTGCCCTTCTGAAATTCAAACAGTAATGCAAAAGTGTCTGCATTAGAATTTACGGTGTCTAAAATTCATGTTTTTAA
AAGAGCTTGCCTACAGATGGTTTCCACACTTGAAATTGTGCCCTGCGAGTTGCATAGCTGGAAGTTCAATGCTCAGTCCTACCTTGGCTC
CCATTAAACATTTGGTGCTCTGTGGATTGAGTTGAACGTGTTGAGGCTTTGCAATTTCACTTGTGTTAAAGGCTCTGGCATTTTTCCATT
TCTATGCAAATTTCTTTGAAGCAGAATTGCTTGCATATTTCTTCTCTGCCGTCACAGAAAGCAGAGTTTCTTTCAAACTTCACTGAGGCA
TCAGTTGCTCTTTGGCAATGTCCCTTAACCATGATTATTAACTAAGTTTGTGGCTTGAGTTTACAAATTCTACTTGTTGCATTGATGTTC
CCATGTAGTAAGTCATTTTTAGTTTGGTTGTGAAAAAACCCTGGGCTGAAGTTGGCATTTCAGTTAAAAGAAAAAAAGAAACTAGTCCCA
GATTTGAAAACTTGTAATAAAATTGAAACTCACTGGTTTTCTATGTCTTTTTGAACTCTTGTAATCGAGTTTTGATCATATTTTCTATTA

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

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>3097_3097_4_AHI1-RPL22_AHI1_chr6_135811761_ENST00000457866_RPL22_chr1_6257816_ENST00000484532_length(transcript)=883nt_BP=434nt
GGCGGCGCGCTGTCCGCACTGCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTC
ACTTCGCGCACGCGCCGCTAGGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTC
TCCAGTGTCAACCTGGGGCTGAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGC
ATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTA
AGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCAGAAAAAGCTTGTGGTG
AAGGGGGGCAAAAAAAAGAAGCAAGTTCTGAAGTTCACTCTTGATTGCACCCACCCTGTAGAAGATGGAATCATGGATGCTGCCAATTTT
GAGCAGTTTTTGCAAGAAAGGATCAAAGTGAACGGAAAAGCTGGGAACCTTGGTGGAGGGGTGGTGACCATCGAAAGGAGCAAGAGCAAG
ATCACCGTGACATCCGAGGTGCCTTTCTCCAAAAGGCGGCCAGCACTGGGCTGACCCGGCTTCTCTATCTACAGCGTAGTTAAAGCGGAT
CTGGGAGATGGAGGGGTTCCCAACACCCCAGTCTTTGGTTCCAGAAGGCTGGACCGACCTCTCCTTGCCCAGGGATGAATGCAGAGGGTC

>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 Gene PPI Analysis for AHI1-RPL22


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneAHI1chr6:135811761chr1:6257816ENST00000327035-423141_43445.01054.0HAP1
HgeneAHI1chr6:135811761chr1:6257816ENST00000367800-327141_43445.01197.0HAP1
HgeneAHI1chr6:135811761chr1:6257816ENST00000457866-428141_43445.01197.0HAP1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for AHI1-RPL22


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AHI1-RPL22


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHI1C1837713JOUBERT SYNDROME 37CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAHI1C0004352Autistic Disorder1CTD_human
HgeneAHI1C0007760Cerebellar Diseases1CTD_human
HgeneAHI1C0020796Profound Mental Retardation1CTD_human
HgeneAHI1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneAHI1C0035304Retinal Degeneration1CTD_human
HgeneAHI1C0036341Schizophrenia1CTD_human
HgeneAHI1C0152427Polydactyly1GENOMICS_ENGLAND
HgeneAHI1C0162538Immunoglobulin A deficiency (disorder)1CTD_human
HgeneAHI1C0431399Familial aplasia of the vermis1GENOMICS_ENGLAND;ORPHANET
HgeneAHI1C0917816Mental deficiency1CTD_human
HgeneAHI1C3553264JOUBERT SYNDROME 171GENOMICS_ENGLAND
HgeneAHI1C3714756Intellectual Disability1CTD_human
HgeneAHI1C4274118Joubert syndrome with ocular defect1ORPHANET
HgeneAHI1C4551568Joubert syndrome 11ORPHANET