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Center for Computational Systems Medicine
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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:HK1-DYNC2LI1 (FusionGDB2 ID:HG3098TG51626)

Fusion Gene Summary for HK1-DYNC2LI1

check button Fusion gene summary
Fusion gene informationFusion gene name: HK1-DYNC2LI1
Fusion gene ID: hg3098tg51626
HgeneTgene
Gene symbol

HK1

DYNC2LI1

Gene ID

3098

51626

Gene namehexokinase 1dynein cytoplasmic 2 light intermediate chain 1
SynonymsHK|HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1|NEDVIBA|RP79|hexokinaseCGI-60|D2LIC|LIC3
Cytomap('HK1')('DYNC2LI1')

10q22.1

2p21

Type of geneprotein-codingprotein-coding
Descriptionhexokinase-1brain form hexokinaseglycolytic enzymehexokinase IRhexokinase type Ihexokinase-Acytoplasmic dynein 2 light intermediate chain 1
Modification date2020032820200313
UniProtAcc

P19367

.
Ensembl transtripts involved in fusion geneENST00000298649, ENST00000359426, 
ENST00000360289, ENST00000404387, 
ENST00000448642, ENST00000494253, 
Fusion gene scores* DoF score15 X 16 X 5=12004 X 5 X 2=40
# samples 215
** MAII scorelog2(21/1200*10)=-2.51457317282976
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HK1 [Title/Abstract] AND DYNC2LI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHK1(71125351)-DYNC2LI1(44016055), # 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


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
ChiTaRS5.0N/AAV694118HK1chr10

71125351

-DYNC2LI1chr2

44016055

+


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Fusion Gene ORF analysis for HK1-DYNC2LI1

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
intron-intronENST00000298649ENST00000260605HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000298649ENST00000398823HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000298649ENST00000406852HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000298649ENST00000443170HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000298649ENST00000489222HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000298649ENST00000605786HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000359426ENST00000260605HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000359426ENST00000398823HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000359426ENST00000406852HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000359426ENST00000443170HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000359426ENST00000489222HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000359426ENST00000605786HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000360289ENST00000260605HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000360289ENST00000398823HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000360289ENST00000406852HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000360289ENST00000443170HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000360289ENST00000489222HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000360289ENST00000605786HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000404387ENST00000260605HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000404387ENST00000398823HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000404387ENST00000406852HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000404387ENST00000443170HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000404387ENST00000489222HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000404387ENST00000605786HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000448642ENST00000260605HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000448642ENST00000398823HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000448642ENST00000406852HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000448642ENST00000443170HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000448642ENST00000489222HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000448642ENST00000605786HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000494253ENST00000260605HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000494253ENST00000398823HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000494253ENST00000406852HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000494253ENST00000443170HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000494253ENST00000489222HK1chr10

71125351

-DYNC2LI1chr2

44016055

+
intron-intronENST00000494253ENST00000605786HK1chr10

71125351

-DYNC2LI1chr2

44016055

+

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 HK1-DYNC2LI1


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 HK1-DYNC2LI1


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/:71125351/:44016055)
- 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
HK1

P19367

.
FUNCTION: Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively) (PubMed:1637300, PubMed:25316723, PubMed:27374331). Does not phosphorylate N-acetyl-D-glucosamine (PubMed:27374331). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Involved in innate immunity and inflammation by acting as a pattern recognition receptor for bacterial peptidoglycan (PubMed:27374331). When released in the cytosol, N-acetyl-D-glucosamine component of bacterial peptidoglycan inhibits the hexokinase activity of HK1 and causes its dissociation from mitochondrial outer membrane, thereby activating the NLRP3 inflammasome (PubMed:27374331). {ECO:0000250|UniProtKB:P05708, ECO:0000269|PubMed:1637300, ECO:0000269|PubMed:25316723, ECO:0000269|PubMed:27374331}.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 HK1-DYNC2LI1


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 HK1-DYNC2LI1


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 HK1-DYNC2LI1


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 HK1-DYNC2LI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHK1C3150343HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneHK1C1854449Neuropathy, hereditary motor and sensory, Russe type2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneHK1C4479526RETINITIS PIGMENTOSA 792CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneHK1C0002152Alloxan Diabetes1CTD_human
HgeneHK1C0004134Ataxia1GENOMICS_ENGLAND
HgeneHK1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneHK1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneHK1C0036341Schizophrenia1PSYGENET
HgeneHK1C0037822Speech Disorders1GENOMICS_ENGLAND
HgeneHK1C0038433Streptozotocin Diabetes1CTD_human
HgeneHK1C0151744Myocardial Ischemia1CTD_human
HgeneHK1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneHK1C0472792Hemolytic anemia due to hexokinase deficiency1GENOMICS_ENGLAND
HgeneHK1C0520572Enzymopathy1GENOMICS_ENGLAND
HgeneHK1C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneHK1C0852413Abnormal muscle tone1GENOMICS_ENGLAND
HgeneHK1C3665347Visual Impairment1GENOMICS_ENGLAND
HgeneHK1C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4310724SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY2GENOMICS_ENGLAND;UNIPROT
TgeneC0013903Ellis-Van Creveld Syndrome1ORPHANET
TgeneC0265275Jeune thoracic dystrophy1ORPHANET