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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-SGK1 (FusionGDB2 ID:HG54806TG6446)

Fusion Gene Summary for AHI1-SGK1

check button Fusion gene summary
Fusion gene informationFusion gene name: AHI1-SGK1
Fusion gene ID: hg54806tg6446
HgeneTgene
Gene symbol

AHI1

SGK1

Gene ID

54806

6446

Gene nameAbelson helper integration site 1serum/glucocorticoid regulated kinase 1
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1SGK
Cytomap('AHI1')('SGK1')

6q23.3

6q23.2

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domainsserine/threonine-protein kinase Sgk1Sgk1 variant i3serine/threonine protein kinase SGK
Modification date2020031320200329
UniProtAcc

Q8N157

.
Ensembl transtripts involved in fusion geneENST00000367800, ENST00000417892, 
ENST00000457866, ENST00000327035, 
ENST00000367798, ENST00000488690, 
ENST00000528103, ENST00000531527, 
ENST00000534469, 
Fusion gene scores* DoF score10 X 11 X 6=6609 X 11 X 7=693
# samples 1014
** MAII scorelog2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/693*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHI1 [Title/Abstract] AND SGK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHI1(135679269)-SGK1(134528569), # samples:1
Anticipated loss of major functional domain due to fusion event.AHI1-SGK1 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-SGK1 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-SGK1 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-SGK1 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-SGK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AHI1-SGK1 seems lost the major protein functional domain in Tgene partner, which is a kinase 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 SGK1 (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
ChimerDB4ESCATCGA-R6-A6DNAHI1chr6

135679269

-SGK1chr6

134528569

-


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Fusion Gene ORF analysis for AHI1-SGK1

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-intronENST00000367800ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000367800ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000367800ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000367800ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000367800ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000367800ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000367800ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000417892ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
5CDS-intronENST00000457866ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
Frame-shiftENST00000367800ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
Frame-shiftENST00000417892ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
In-frameENST00000457866ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-3CDSENST00000327035ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-3CDSENST00000367798ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-3CDSENST00000488690ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-3CDSENST00000528103ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-3CDSENST00000531527ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-3CDSENST00000534469ENST00000367858AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000327035ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000367798ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000488690ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000528103ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000531527ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000237305AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000367857AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000413996AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000475719AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000489458AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000524929AHI1chr6

135679269

-SGK1chr6

134528569

-
intron-intronENST00000534469ENST00000528577AHI1chr6

135679269

-SGK1chr6

134528569

-

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)
ENST00000457866AHI1chr6135679269-ENST00000367858SGK1chr6134528569-5782346429947591486

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
ENST00000457866ENST00000367858AHI1chr6135679269-SGK1chr6134528569-0.0001403550.9998596

Top

Fusion Genomic Features for AHI1-SGK1


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-SGK1


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/chr6:135679269/chr6:134528569)
- 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
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-222713_4510551197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-232813_4510551197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227234_23910551197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328234_23910551197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227607_64910551197.0RepeatNote=WD 1
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227652_69110551197.0RepeatNote=WD 2
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227695_73510551197.0RepeatNote=WD 3
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227742_78110551197.0RepeatNote=WD 4
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227797_83710551197.0RepeatNote=WD 5
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227841_88010551197.0RepeatNote=WD 6
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227885_92610551197.0RepeatNote=WD 7
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328607_64910551197.0RepeatNote=WD 1
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328652_69110551197.0RepeatNote=WD 2
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328695_73510551197.0RepeatNote=WD 3
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328742_78110551197.0RepeatNote=WD 4
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328797_83710551197.0RepeatNote=WD 5
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328841_88010551197.0RepeatNote=WD 6
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328885_92610551197.0RepeatNote=WD 7
TgeneSGK1chr6:135679269chr6:134528569ENST00000237305012131_1410432.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000367857011131_1410422.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000367858114131_14195527.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000413996012131_1410446.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000528577012131_1410460.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000237305012356_4310432.0DomainAGC-kinase C-terminal
TgeneSGK1chr6:135679269chr6:134528569ENST0000023730501298_3550432.0DomainProtein kinase
TgeneSGK1chr6:135679269chr6:134528569ENST00000367857011356_4310422.0DomainAGC-kinase C-terminal
TgeneSGK1chr6:135679269chr6:134528569ENST0000036785701198_3550422.0DomainProtein kinase
TgeneSGK1chr6:135679269chr6:134528569ENST00000367858114356_43195527.0DomainAGC-kinase C-terminal
TgeneSGK1chr6:135679269chr6:134528569ENST0000036785811498_35595527.0DomainProtein kinase
TgeneSGK1chr6:135679269chr6:134528569ENST00000413996012356_4310446.0DomainAGC-kinase C-terminal
TgeneSGK1chr6:135679269chr6:134528569ENST0000041399601298_3550446.0DomainProtein kinase
TgeneSGK1chr6:135679269chr6:134528569ENST00000528577012356_4310460.0DomainAGC-kinase C-terminal
TgeneSGK1chr6:135679269chr6:134528569ENST0000052857701298_3550460.0DomainProtein kinase
TgeneSGK1chr6:135679269chr6:134528569ENST00000237305012104_1120432.0Nucleotide bindingNote=ATP
TgeneSGK1chr6:135679269chr6:134528569ENST00000367857011104_1120422.0Nucleotide bindingNote=ATP
TgeneSGK1chr6:135679269chr6:134528569ENST00000367858114104_11295527.0Nucleotide bindingNote=ATP
TgeneSGK1chr6:135679269chr6:134528569ENST00000413996012104_1120446.0Nucleotide bindingNote=ATP
TgeneSGK1chr6:135679269chr6:134528569ENST00000528577012104_1120460.0Nucleotide bindingNote=ATP
TgeneSGK1chr6:135679269chr6:134528569ENST000002373050121_600432.0RegionNote=Necessary for localization to the mitochondria
TgeneSGK1chr6:135679269chr6:134528569ENST000003678570111_600422.0RegionNote=Necessary for localization to the mitochondria
TgeneSGK1chr6:135679269chr6:134528569ENST000004139960121_600446.0RegionNote=Necessary for localization to the mitochondria
TgeneSGK1chr6:135679269chr6:134528569ENST000005285770121_600460.0RegionNote=Necessary for localization to the mitochondria

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-12313_4501054.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123234_23901054.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-1231051_111101054.0DomainSH3
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-22271051_111110551197.0DomainSH3
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-23281051_111110551197.0DomainSH3
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123607_64901054.0RepeatNote=WD 1
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123652_69101054.0RepeatNote=WD 2
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123695_73501054.0RepeatNote=WD 3
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123742_78101054.0RepeatNote=WD 4
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123797_83701054.0RepeatNote=WD 5
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123841_88001054.0RepeatNote=WD 6
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123885_92601054.0RepeatNote=WD 7
TgeneSGK1chr6:135679269chr6:134528569ENST000003678581141_6095527.0RegionNote=Necessary for localization to the mitochondria


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Fusion Gene Sequence for AHI1-SGK1


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.
>3098_3098_1_AHI1-SGK1_AHI1_chr6_135679269_ENST00000457866_SGK1_chr6_134528569_ENST00000367858_length(transcript)=5782nt_BP=3464nt
GGCGGCGCGCTGTCCGCACTGCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTC
ACTTCGCGCACGCGCCGCTAGGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTC
TCCAGTGTCAACCTGGGGCTGAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGC
ATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTA
AGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACACTATTAGAA
GCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTACAAGTGATG
ATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAACTGAAAATC
CTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTACACAAGACC
TGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCAGAAAAGTG
AGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGAAGAAATGG
CAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGACAAACTAA
GCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACACAGTTGAAG
GTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAGCACAGAAG
ACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGTTGATGGTG
ATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTACATTCACC
GAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAGA
AAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATATGATTTTA
AACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGTC
CTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGAATGTGGCT
TTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTACC
CACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATCAACACTGT
ACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGGTAAACCAG
TGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAAACGACTCC
CTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATG
GAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGT
GTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATAT
GGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAG
AGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTG
ATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTT
GGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAA
TTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGA
TATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTG
GAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTC
GAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCC
ATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTA
CCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAAC
AGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCT
CACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGGATTATCAGCA
TAGAAAGAAAGCCTTGTAACCATCAGGTAGATACAGCACCAACGGTGAGAGAGCCATGTAATCATGCCAACATCCTGACCAAGCCCGATC
CAAGAACCTTCTGGACTAATGATGATCCAGCTTTCATGAAGCAGAGGAGGATGGGTCTGAACGACTTTATTCAGAAGATTGCCAATAACT
CCTATGCATGCAAACACCCTGAAGTTCAGTCCATCTTGAAGATCTCCCAACCTCAGGAGCCTGAGCTTATGAATGCCAACCCTTCTCCTC
CACCAAGTCCTTCTCAGCAAATCAACCTTGGCCCGTCGTCCAATCCTCATGCTAAACCATCTGACTTTCACTTCTTGAAAGTGATCGGAA
AGGGCAGTTTTGGAAAGGTTCTTCTAGCAAGACACAAGGCAGAAGAAGTGTTCTATGCAGTCAAAGTTTTACAGAAGAAAGCAATCCTGA
AAAAGAAAGAGGAGAAGCATATTATGTCGGAGCGGAATGTTCTGTTGAAGAATGTGAAGCACCCTTTCCTGGTGGGCCTTCACTTCTCTT
TCCAGACTGCTGACAAATTGTACTTTGTCCTAGACTACATTAATGGTGGAGAGTTGTTCTACCATCTCCAGAGGGAACGCTGCTTCCTGG
AACCACGGGCTCGTTTCTATGCTGCTGAAATAGCCAGTGCCTTGGGCTACCTGCATTCACTGAACATCGTTTATAGAGACTTAAAACCAG
AGAATATTTTGCTAGATTCACAGGGACACATTGTCCTTACTGACTTCGGACTCTGCAAGGAGAACATTGAACACAACAGCACAACATCCA
CCTTCTGTGGCACGCCGGAGTATCTCGCACCTGAGGTGCTTCATAAGCAGCCTTATGACAGGACTGTGGACTGGTGGTGCCTGGGAGCTG
TCTTGTATGAGATGCTGTATGGCCTGCCGCCTTTTTATAGCCGAAACACAGCTGAAATGTACGACAACATTCTGAACAAGCCTCTCCAGC
TGAAACCAAATATTACAAATTCCGCAAGACACCTCCTGGAGGGCCTCCTGCAGAAGGACAGGACAAAGCGGCTCGGGGCCAAGGATGACT
TCATGGAGATTAAGAGTCATGTCTTCTTCTCCTTAATTAACTGGGATGATCTCATTAATAAGAAGATTACTCCCCCTTTTAACCCAAATG
TGAGTGGGCCCAACGACCTACGGCACTTTGACCCCGAGTTTACCGAAGAGCCTGTCCCCAACTCCATTGGCAAGTCCCCTGACAGCGTCC
TCGTCACAGCCAGCGTCAAGGAAGCTGCCGAGGCTTTCCTAGGCTTTTCCTATGCGCCTCCCACGGACTCTTTCCTCTGAACCCTGTTAG
GGCTTGGTTTTAAAGGATTTTATGTGTGTTTCCGAATGTTTTAGTTAGCCTTTTGGTGGAGCCGCCAGCTGACAGGACATCTTACAAGAG
AATTTGCACATCTCTGGAAGCTTAGCAATCTTATTGCACACTGTTCGCTGGAAGCTTTTTGAAGAGCACATTCTCCTCAGTGAGCTCATG
AGGTTTTCATTTTTATTCTTCCTTCCAACGTGGTGCTATCTCTGAAACGAGCGTTAGAGTGCCGCCTTAGACGGAGGCAGGAGTTTCGTT
AGAAAGCGGACGCTGTTCTAAAAAAGGTCTCCTGCAGATCTGTCTGGGCTGTGATGACGAATATTATGAAATGTGCCTTTTCTGAAGAGA
TTGTGTTAGCTCCAAAGCTTTTCCTATCGCAGTGTTTCAGTTCTTTATTTTCCCTTGTGGATATGCTGTGTGAACCGTCGTGTGAGTGTG
GTATGCCTGATCACAGATGGATTTTGTTATAAGCATCAATGTGACACTTGCAGGACACTACAACGTGGGACATTGTTTGTTTCTTCCATA
TTTGGAAGATAAATTTATGTGTAGACTTTTTTGTAAGATACGGTTAATAACTAAAATTTATTGAAATGGTCTTGCAATGACTCGTATTCA
GATGCTTAAAGAAAGCATTGCTGCTACAAATATTTCTATTTTTAGAAAGGGTTTTTATGGACCAATGCCCCAGTTGTCAGTCAGAGCCGT
TGGTGTTTTTCATTGTTTAAAATGTCACCTGTAAAATGGGCATTATTTATGTTTTTTTTTTTGCATTCCTGATAATTGTATGTATTGTAT
AAAGAACGTCTGTACATTGGGTTATAACACTAGTATATTTAAACTTACAGGCTTATTTGTAATGTAAACCACCATTTTAATGTACTGTAA
TTAACATGGTTATAATACGTACAATCCTTCCCTCATCCCATCACACAACTTTTTTTGTGTGTGATAAACTGATTTTGGTTTGCAATAAAA

>3098_3098_1_AHI1-SGK1_AHI1_chr6_135679269_ENST00000457866_SGK1_chr6_134528569_ENST00000367858_length(amino acids)=1486AA_BP=3
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL
KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR
SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS
RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP
NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI
RSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVREPCNHANILTKPDPRTFWTNDDP
AFMKQRRMGLNDFIQKIANNSYACKHPEVQSILKISQPQEPELMNANPSPPPSPSQQINLGPSSNPHAKPSDFHFLKVIGKGSFGKVLLA
RHKAEEVFYAVKVLQKKAILKKKEEKHIMSERNVLLKNVKHPFLVGLHFSFQTADKLYFVLDYINGGELFYHLQRERCFLEPRARFYAAE
IASALGYLHSLNIVYRDLKPENILLDSQGHIVLTDFGLCKENIEHNSTTSTFCGTPEYLAPEVLHKQPYDRTVDWWCLGAVLYEMLYGLP
PFYSRNTAEMYDNILNKPLQLKPNITNSARHLLEGLLQKDRTKRLGAKDDFMEIKSHVFFSLINWDDLINKKITPPFNPNVSGPNDLRHF

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Fusion Gene PPI Analysis for AHI1-SGK1


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
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227141_4341055.01197.0HAP1
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328141_4341055.01197.0HAP1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123141_43401054.0HAP1


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-SGK1


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-SGK1


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
TgeneC0007097Carcinoma1CTD_human
TgeneC0011882Diabetic Neuropathies1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0041948Uremia1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneC0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneC0271678Diabetic Mononeuropathy1CTD_human
TgeneC0271680Diabetic Polyneuropathies1CTD_human
TgeneC0271685Diabetic Amyotrophy1CTD_human
TgeneC0271686Diabetic Autonomic Neuropathy1CTD_human
TgeneC0393835Diabetic Asymmetric Polyneuropathy1CTD_human
TgeneC0751074Diabetic Neuralgia1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human