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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11193

FusionGeneSummary for EIF2AK1_GCK

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK1_GCK
Fusion gene ID: 11193
HgeneTgene
Gene symbol

EIF2AK1

GCK

Gene ID

27102

5871

Gene nameeukaryotic translation initiation factor 2 alpha kinase 1mitogen-activated protein kinase kinase kinase kinase 2
SynonymsHCR|HRIBL44|GCK|RAB8IP
Cytomap

7p22.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2-alpha kinase 1heme regulated initiation factor 2 alpha kinaseheme sensitive initiation factor 2a kinaseheme-controlled repressorheme-regulated eukaryotic initiation factor eIF-2-alpha kinaseheme-regulated inmitogen-activated protein kinase kinase kinase kinase 2B lymphocyte serine/threonine protein kinaseMAPK/ERK kinase kinase kinase 2MEK kinase kinase 2MEKKK 2Rab8 interacting proteingerminal centre kinase (GC kinase)
Modification date2018052320180523
UniProtAcc

Q9BQI3

P35557

Ensembl transtripts involved in fusion geneENST00000199389, ENST00000536084, 
ENST00000495565, 
ENST00000403799, 
ENST00000395796, ENST00000345378, 
ENST00000437084, ENST00000476008, 
Fusion gene scores* DoF score7 X 5 X 6=2103 X 2 X 2=12
# samples 84
** MAII scorelog2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EIF2AK1 [Title/Abstract] AND GCK [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneEIF2AK1

GO:1990641

response to iron ion starvation

11036079

TgeneGCK

GO:0006468

protein phosphorylation

11784851

TgeneGCK

GO:0007257

activation of JUN kinase activity

17584736

TgeneGCK

GO:0035556

intracellular signal transduction

11784851

TgeneGCK

GO:0046330

positive regulation of JNK cascade

17584736


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-ZS-A9CF-01AEIF2AK1chr7

6094177

-GCKchr7

44189663

-
TCGARVLIHCTCGA-ZS-A9CF-02AEIF2AK1chr7

6094177

-GCKchr7

44189663

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000199389ENST00000403799EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000199389ENST00000395796EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000199389ENST00000345378EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000199389ENST00000437084EIF2AK1chr7

6094177

-GCKchr7

44189663

-
5CDS-intronENST00000199389ENST00000476008EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000536084ENST00000403799EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000536084ENST00000395796EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000536084ENST00000345378EIF2AK1chr7

6094177

-GCKchr7

44189663

-
Frame-shiftENST00000536084ENST00000437084EIF2AK1chr7

6094177

-GCKchr7

44189663

-
5CDS-intronENST00000536084ENST00000476008EIF2AK1chr7

6094177

-GCKchr7

44189663

-
intron-3CDSENST00000495565ENST00000403799EIF2AK1chr7

6094177

-GCKchr7

44189663

-
intron-3CDSENST00000495565ENST00000395796EIF2AK1chr7

6094177

-GCKchr7

44189663

-
intron-3CDSENST00000495565ENST00000345378EIF2AK1chr7

6094177

-GCKchr7

44189663

-
intron-3CDSENST00000495565ENST00000437084EIF2AK1chr7

6094177

-GCKchr7

44189663

-
intron-intronENST00000495565ENST00000476008EIF2AK1chr7

6094177

-GCKchr7

44189663

-

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FusionProtFeatures for EIF2AK1_GCK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF2AK1

Q9BQI3

GCK

P35557

Catalyzes the initial step in utilization of glucose bythe beta-cell and liver at physiological glucose concentration.Glucokinase has a high Km for glucose, and so it is effective onlywhen glucose is abundant. The role of GCK is to provide G6P forthe synthesis of glycogen. Pancreatic glucokinase plays animportant role in modulating insulin secretion. Hepaticglucokinase helps to facilitate the uptake and conversion ofglucose by acting as an insulin-sensitive determinant of hepaticglucose usage. {ECO:0000269|PubMed:11916951,ECO:0000269|PubMed:15277402, ECO:0000269|PubMed:17082186,ECO:0000269|PubMed:18322640, ECO:0000269|PubMed:19146401,ECO:0000269|PubMed:25015100, ECO:0000269|PubMed:8325892}.

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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FusionGeneSequence for EIF2AK1_GCK


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EIF2AK1_GCK


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
EIF2AK1CDC37, HSP90AA1, LIG4, MDM2, FASLG, KIAA0141, CDK6, EAF1, DDX20, NAF1, ATRX, AP3B1, POLD1, RBM14, MFAP1GCKPFKFB2, GCKR, PCNA, AGL, GMIP, SMEK2, UGP2


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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RelatedDrugs for EIF2AK1_GCK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EIF2AK1_GCK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK1C0002878Anemia, Hemolytic1CTD_human
HgeneEIF2AK1C0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneEIF2AK1C0038002Splenomegaly1CTD_human
HgeneEIF2AK1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneGCKC0342277Diabetes mellitus autosomal dominant type II (disorder)13CTD_human;UNIPROT
TgeneGCKC0011860Diabetes Mellitus, Non-Insulin-Dependent4CTD_human;HPO;ORPHANET
TgeneGCKC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneGCKC0020456Hyperglycemia1CTD_human;HPO
TgeneGCKC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneGCKC1865290Hyperinsulinemic hypoglycemia, familial, 31CTD_human;ORPHANET;UNIPROT
TgeneGCKC3888018Congenital Hyperinsulinism1CTD_human