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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AHI1-SGK1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AHI1-SGK1
FusionPDB ID: 3098
FusionGDB2.0 ID: 3098
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

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 geneENST idsENST00000367800, ENST00000417892, 
ENST00000457866, ENST00000327035, 
ENST00000367798, ENST00000488690, 
ENST00000528103, ENST00000531527, 
ENST00000534469, 
ENST00000237305, 
ENST00000367857, ENST00000413996, 
ENST00000475719, ENST00000489458, 
ENST00000524929, ENST00000528577, 
ENST00000367858, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* 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 (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AHI1(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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4ESCATCGA-R6-A6DNAHI1chr6

135679269

-SGK1chr6

134528569

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
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

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Fusion Amino Acid Sequences


check button 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

>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 Protein Functional Features


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: 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.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-222713_451055.01197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-232813_451055.01197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227234_2391055.01197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328234_2391055.01197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227607_6491055.01197.0RepeatNote=WD 1
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227652_6911055.01197.0RepeatNote=WD 2
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227695_7351055.01197.0RepeatNote=WD 3
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227742_7811055.01197.0RepeatNote=WD 4
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227797_8371055.01197.0RepeatNote=WD 5
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227841_8801055.01197.0RepeatNote=WD 6
HgeneAHI1chr6:135679269chr6:134528569ENST00000367800-2227885_9261055.01197.0RepeatNote=WD 7
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328607_6491055.01197.0RepeatNote=WD 1
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328652_6911055.01197.0RepeatNote=WD 2
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328695_7351055.01197.0RepeatNote=WD 3
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328742_7811055.01197.0RepeatNote=WD 4
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328797_8371055.01197.0RepeatNote=WD 5
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328841_8801055.01197.0RepeatNote=WD 6
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-2328885_9261055.01197.0RepeatNote=WD 7
TgeneSGK1chr6:135679269chr6:134528569ENST00000237305012131_1410432.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000367857011131_1410422.0Compositional biasNote=Glu/Lys-rich
TgeneSGK1chr6:135679269chr6:134528569ENST00000367858114131_14195.0527.0Compositional 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_43195.0527.0DomainAGC-kinase C-terminal
TgeneSGK1chr6:135679269chr6:134528569ENST0000036785811498_35595.0527.0DomainProtein 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_11295.0527.0Nucleotide 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

- 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_11111055.01197.0DomainSH3
HgeneAHI1chr6:135679269chr6:134528569ENST00000457866-23281051_11111055.01197.0DomainSH3
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_6095.0527.0RegionNote=Necessary for localization to the mitochondria


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AHI1
SGK1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneAHI1chr6:135679269chr6:134528569ENST00000327035-123141_43401054.0HAP1


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Related Drugs to AHI1-SGK1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to AHI1-SGK1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource