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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:AHNAK-PKM (FusionGDB2 ID:HG79026TG5315)

Fusion Gene Summary for AHNAK-PKM

check button Fusion gene summary
Fusion gene informationFusion gene name: AHNAK-PKM
Fusion gene ID: hg79026tg5315
HgeneTgene
Gene symbol

AHNAK

PKM

Gene ID

79026

5315

Gene nameAHNAK nucleoproteinpyruvate kinase M1/2
SynonymsAHNAKRS|PM227CTHBP|HEL-S-30|OIP3|PK3|PKM2|TCB|THBP1|p58
Cytomap('AHNAK')('PKM')

11q12.3

15q23

Type of geneprotein-codingprotein-coding
Descriptionneuroblast differentiation-associated protein AHNAKAHNAK-relateddesmoyokinpyruvate kinase PKMOPA-interacting protein 3PK, muscle typecytosolic thyroid hormone-binding proteinepididymis secretory protein Li 30pyruvate kinase 2/3pyruvate kinase isozymes M1/M2pyruvate kinase muscle isozymepyruvate kinase, musclethyroid ho
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000525875, ENST00000257247, 
ENST00000378024, ENST00000530124, 
Fusion gene scores* DoF score27 X 21 X 12=680434 X 37 X 9=11322
# samples 3441
** MAII scorelog2(34/6804*10)=-4.32277648952568
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(41/11322*10)=-4.78736110881616
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointAHNAK(62283631)-PKM(72501232), # samples:1
AHNAK(62284482)-PKM(72491879), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgenePKM

GO:0012501

programmed cell death

17308100



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
ChimerDB4SKCMTCGA-EE-A29X-06AAHNAKchr11

62283631

-PKMchr15

72501232

-
ChimerDB4STADTCGA-CG-5721-01AAHNAKchr11

62284482

-PKMchr15

72491879

-


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Fusion Gene ORF analysis for AHNAK-PKM

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
5UTR-3UTRENST00000525875ENST00000319622AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-3UTRENST00000525875ENST00000335181AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-3UTRENST00000525875ENST00000389093AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-3UTRENST00000525875ENST00000449901AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-3UTRENST00000525875ENST00000565184AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-3UTRENST00000525875ENST00000568883AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-intronENST00000525875ENST00000565154AHNAKchr11

62284482

-PKMchr15

72491879

-
5UTR-intronENST00000525875ENST00000568459AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3CDSENST00000257247ENST00000319622AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000257247ENST00000335181AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000257247ENST00000389093AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000257247ENST00000565184AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000378024ENST00000319622AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000378024ENST00000335181AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000378024ENST00000389093AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000378024ENST00000565184AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000525875ENST00000319622AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000525875ENST00000335181AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000525875ENST00000389093AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000525875ENST00000565184AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000530124ENST00000319622AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000530124ENST00000335181AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000530124ENST00000389093AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3CDSENST00000530124ENST00000565184AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-3UTRENST00000257247ENST00000319622AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000257247ENST00000335181AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000257247ENST00000389093AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000257247ENST00000449901AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000257247ENST00000565184AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000257247ENST00000568883AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000378024ENST00000319622AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000378024ENST00000335181AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000378024ENST00000389093AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000378024ENST00000449901AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000378024ENST00000565184AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000378024ENST00000568883AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000530124ENST00000319622AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000530124ENST00000335181AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000530124ENST00000389093AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000530124ENST00000449901AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000530124ENST00000565184AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-3UTRENST00000530124ENST00000568883AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000257247ENST00000449901AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000257247ENST00000565154AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000257247ENST00000565154AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000257247ENST00000568459AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000257247ENST00000568459AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000257247ENST00000568883AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000378024ENST00000449901AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000378024ENST00000565154AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000378024ENST00000565154AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000378024ENST00000568459AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000378024ENST00000568459AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000378024ENST00000568883AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000525875ENST00000449901AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000525875ENST00000565154AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000525875ENST00000568459AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000525875ENST00000568883AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000530124ENST00000449901AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000530124ENST00000565154AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000530124ENST00000565154AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000530124ENST00000568459AHNAKchr11

62283631

-PKMchr15

72501232

-
intron-intronENST00000530124ENST00000568459AHNAKchr11

62284482

-PKMchr15

72491879

-
intron-intronENST00000530124ENST00000568883AHNAKchr11

62283631

-PKMchr15

72501232

-

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)

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

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Fusion Genomic Features for AHNAK-PKM


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)


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Fusion Protein Features for AHNAK-PKM


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/:62283631/:72501232)
- 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
..
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}.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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for AHNAK-PKM


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.

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Fusion Gene PPI Analysis for AHNAK-PKM


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


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 AHNAK-PKM


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 AHNAK-PKM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHNAKC0007134Renal Cell Carcinoma1CTD_human
HgeneAHNAKC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAHNAKC0027626Neoplasm Invasiveness1CTD_human
HgeneAHNAKC0263454Chloracne1CTD_human
HgeneAHNAKC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneAHNAKC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneAHNAKC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneAHNAKC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneAHNAKC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0001787Osteoporosis, Age-Related1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0029456Osteoporosis1CTD_human
TgeneC0029459Osteoporosis, Senile1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC2239176Liver carcinoma1CTD_human