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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:AHNAK-RPS6KA4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AHNAK-RPS6KA4
FusionPDB ID: 3122
FusionGDB2.0 ID: 3122
HgeneTgene
Gene symbol

AHNAK

RPS6KA4

Gene ID

79026

8986

Gene nameAHNAK nucleoproteinribosomal protein S6 kinase A4
SynonymsAHNAKRS|PM227MSK2|RSK-B|S6K-alpha-4
Cytomap

11q12.3

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionneuroblast differentiation-associated protein AHNAKAHNAK-relateddesmoyokinribosomal protein S6 kinase alpha-490 kDa ribosomal protein S6 kinase 4mitogen- and stress-activated protein kinase 2nuclear mitogen- and stress-activated protein kinase 2ribosomal protein S6 kinase, 90kDa, polypeptide 4ribosomal protein kinase B
Modification date2020032720200327
UniProtAcc

Q8IVF2

.
Ensembl transtripts involved in fusion geneENST idsENST00000525875, ENST00000257247, 
ENST00000378024, ENST00000530124, 
ENST00000294261, ENST00000334205, 
ENST00000528057, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score27 X 21 X 12=68042 X 2 X 2=8
# samples 343
** MAII scorelog2(34/6804*10)=-4.32277648952568
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/8*10)=1.90689059560852
Context (manual curation of fusion genes in FusionPDB)

PubMed: AHNAK [Title/Abstract] AND RPS6KA4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AHNAK(62259204)-RPS6KA4(64132773), # samples:3
Anticipated loss of major functional domain due to fusion event.AHNAK-RPS6KA4 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.
AHNAK-RPS6KA4 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.
AHNAK-RPS6KA4 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.
AHNAK-RPS6KA4 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.
* 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
TgeneRPS6KA4

GO:0006355

regulation of transcription, DNA-templated

9792677

TgeneRPS6KA4

GO:0006468

protein phosphorylation

9792677

TgeneRPS6KA4

GO:0035556

intracellular signal transduction

9792677


check buttonFusion gene breakpoints across AHNAK (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 RPS6KA4 (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
ChimerDB4BRCATCGA-A8-A09E-01AAHNAKchr11

62259204

-RPS6KA4chr11

64132773

+
ChimerDB4BRCATCGA-A8-A09EAHNAKchr11

62259203

-RPS6KA4chr11

64132772

+


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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)
ENST00000257247AHNAKchr1162259204-ENST00000528057RPS6KA4chr1164132773+28056786722069465
ENST00000257247AHNAKchr1162259204-ENST00000334205RPS6KA4chr1164132773+28266786722090472
ENST00000257247AHNAKchr1162259204-ENST00000294261RPS6KA4chr1164132773+20816786721346224
ENST00000257247AHNAKchr1162259203-ENST00000528057RPS6KA4chr1164132772+28056786722069465
ENST00000257247AHNAKchr1162259203-ENST00000334205RPS6KA4chr1164132772+28266786722090472
ENST00000257247AHNAKchr1162259203-ENST00000294261RPS6KA4chr1164132772+20816786721346224

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
ENST00000257247ENST00000528057AHNAKchr1162259204-RPS6KA4chr1164132773+0.08380960.9161904
ENST00000257247ENST00000334205AHNAKchr1162259204-RPS6KA4chr1164132773+0.1068567260.8931433
ENST00000257247ENST00000294261AHNAKchr1162259204-RPS6KA4chr1164132773+0.3615120.638488
ENST00000257247ENST00000528057AHNAKchr1162259203-RPS6KA4chr1164132772+0.08380960.9161904
ENST00000257247ENST00000334205AHNAKchr1162259203-RPS6KA4chr1164132772+0.1068567260.8931433
ENST00000257247ENST00000294261AHNAKchr1162259203-RPS6KA4chr1164132772+0.3615120.638488

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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

>3122_3122_1_AHNAK-RPS6KA4_AHNAK_chr11_62259203_ENST00000257247_RPS6KA4_chr11_64132772_ENST00000294261_length(amino acids)=224AA_BP=1
MQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAAEIMCKIREGRFSLDGE
AWQGVSEEAKELVRGLLTVDPAKRLKLEGLRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLA

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

>3122_3122_2_AHNAK-RPS6KA4_AHNAK_chr11_62259203_ENST00000257247_RPS6KA4_chr11_64132772_ENST00000334205_length(amino acids)=472AA_BP=1
MQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAVMTDGLEAPGAGDRPGR
AAVARSAMMQDSPFFQQYELDLREPALGQGSFSVCRRCRQRQSGQEFAVKILSRRLEANTQREVAALRLCQSHPNVVNLHEVHHDQLHTY
LVLELLRGGELLEHIRKKRHFSESEASQILRSLVSAVSFMHEEAGVVHRDLKPENILYADDTPGAPVKIIDFGFARLRPQSPGVPMQTPC
FTLQYAAPELLAQQGYDESCDLWSLGVILYMMLSGQVPFQGASGQGGQSQAAEIMCKIREGRFSLDGEAWQGVSEEAKELVRGLLTVDPA
KRLKLEGLRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLAKRRKQKLRSATASRRGSPAPAN

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

>3122_3122_3_AHNAK-RPS6KA4_AHNAK_chr11_62259203_ENST00000257247_RPS6KA4_chr11_64132772_ENST00000528057_length(amino acids)=465AA_BP=1
MQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAVMTDGLEAPGAGDRPGR
AAVARSAMMQYELDLREPALGQGSFSVCRRCRQRQSGQEFAVKILSRRLEANTQREVAALRLCQSHPNVVNLHEVHHDQLHTYLVLELLR
GGELLEHIRKKRHFSESEASQILRSLVSAVSFMHEEAGVVHRDLKPENILYADDTPGAPVKIIDFGFARLRPQSPGVPMQTPCFTLQYAA
PELLAQQGYDESCDLWSLGVILYMMLSGQVPFQGASGQGGQSQAAEIMCKIREGRFSLDGEAWQGVSEEAKELVRGLLTVDPAKRLKLEG
LRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLAKRRKQKLRSATASRRGSPAPANPGRAPVA

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

>3122_3122_4_AHNAK-RPS6KA4_AHNAK_chr11_62259204_ENST00000257247_RPS6KA4_chr11_64132773_ENST00000294261_length(amino acids)=224AA_BP=1
MQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAAEIMCKIREGRFSLDGE
AWQGVSEEAKELVRGLLTVDPAKRLKLEGLRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLA

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

>3122_3122_5_AHNAK-RPS6KA4_AHNAK_chr11_62259204_ENST00000257247_RPS6KA4_chr11_64132773_ENST00000334205_length(amino acids)=472AA_BP=1
MQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAVMTDGLEAPGAGDRPGR
AAVARSAMMQDSPFFQQYELDLREPALGQGSFSVCRRCRQRQSGQEFAVKILSRRLEANTQREVAALRLCQSHPNVVNLHEVHHDQLHTY
LVLELLRGGELLEHIRKKRHFSESEASQILRSLVSAVSFMHEEAGVVHRDLKPENILYADDTPGAPVKIIDFGFARLRPQSPGVPMQTPC
FTLQYAAPELLAQQGYDESCDLWSLGVILYMMLSGQVPFQGASGQGGQSQAAEIMCKIREGRFSLDGEAWQGVSEEAKELVRGLLTVDPA
KRLKLEGLRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLAKRRKQKLRSATASRRGSPAPAN

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

>3122_3122_6_AHNAK-RPS6KA4_AHNAK_chr11_62259204_ENST00000257247_RPS6KA4_chr11_64132773_ENST00000528057_length(amino acids)=465AA_BP=1
MQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAVMTDGLEAPGAGDRPGR
AAVARSAMMQYELDLREPALGQGSFSVCRRCRQRQSGQEFAVKILSRRLEANTQREVAALRLCQSHPNVVNLHEVHHDQLHTYLVLELLR
GGELLEHIRKKRHFSESEASQILRSLVSAVSFMHEEAGVVHRDLKPENILYADDTPGAPVKIIDFGFARLRPQSPGVPMQTPCFTLQYAA
PELLAQQGYDESCDLWSLGVILYMMLSGQVPFQGASGQGGQSQAAEIMCKIREGRFSLDGEAWQGVSEEAKELVRGLLTVDPAKRLKLEG
LRGSSWLQDGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLAKRRKQKLRSATASRRGSPAPANPGRAPVA

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

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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/chr11:62259204/chr11:64132773)
- 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
AHNAK

Q8IVF2

.
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
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-569_90147.33333333333334150.0DomainPDZ
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-569_90147.33333333333334150.0DomainPDZ
TgeneRPS6KA4chr11:62259203chr11:64132772ENST00000334205717302_371302.0773.0DomainAGC-kinase C-terminal
TgeneRPS6KA4chr11:62259203chr11:64132772ENST00000334205717411_674302.0773.0DomainProtein kinase 2
TgeneRPS6KA4chr11:62259204chr11:64132773ENST00000334205717302_371302.0773.0DomainAGC-kinase C-terminal
TgeneRPS6KA4chr11:62259204chr11:64132773ENST00000334205717411_674302.0773.0DomainProtein kinase 2
TgeneRPS6KA4chr11:62259203chr11:64132772ENST00000334205717417_425302.0773.0Nucleotide bindingATP
TgeneRPS6KA4chr11:62259204chr11:64132773ENST00000334205717417_425302.0773.0Nucleotide bindingATP
TgeneRPS6KA4chr11:62259203chr11:64132772ENST00000334205717725_772302.0773.0RegionNote=Required for nuclear targeting and association with MAPK14
TgeneRPS6KA4chr11:62259204chr11:64132773ENST00000334205717725_772302.0773.0RegionNote=Required for nuclear targeting and association with MAPK14

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-565458_5654147.33333333333334150.0Compositional biasNote=Gly-rich
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-155458_565405891.0Compositional biasNote=Gly-rich
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-565458_5654147.33333333333334150.0Compositional biasNote=Gly-rich
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-155458_565405891.0Compositional biasNote=Gly-rich
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-159_9005891.0DomainPDZ
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-159_9005891.0DomainPDZ
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-564971_4979147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-565019_5027147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-565034_5039147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-565706_5716147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000257247-565772_5779147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-154971_497905891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-155019_502705891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-155034_503905891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-155706_571605891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259203chr11:64132772ENST00000378024-155772_577905891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-564971_4979147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-565019_5027147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-565034_5039147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-565706_5716147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000257247-565772_5779147.33333333333334150.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-154971_497905891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-155019_502705891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-155034_503905891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-155706_571605891.0MotifNuclear localization signal
HgeneAHNAKchr11:62259204chr11:64132773ENST00000378024-155772_577905891.0MotifNuclear localization signal
TgeneRPS6KA4chr11:62259203chr11:64132772ENST0000033420571733_301302.0773.0DomainProtein kinase 1
TgeneRPS6KA4chr11:62259204chr11:64132773ENST0000033420571733_301302.0773.0DomainProtein kinase 1
TgeneRPS6KA4chr11:62259203chr11:64132772ENST0000033420571739_47302.0773.0Nucleotide bindingATP
TgeneRPS6KA4chr11:62259204chr11:64132773ENST0000033420571739_47302.0773.0Nucleotide bindingATP


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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
AHNAK
RPS6KA4


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


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Related Drugs to AHNAK-RPS6KA4


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 AHNAK-RPS6KA4


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