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Fusion gene ID: 14504 |
FusionGeneSummary for GCK_FRA10AC1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GCK_FRA10AC1 | Fusion gene ID: 14504 | Hgene | Tgene | Gene symbol | GCK | FRA10AC1 | Gene ID | 5871 | 118924 |
Gene name | mitogen-activated protein kinase kinase kinase kinase 2 | FRA10A associated CGG repeat 1 | |
Synonyms | BL44|GCK|RAB8IP | C10orf4|F26C11.1-like|FRA10A | |
Cytomap | 11q13.1 | 10q23.33 | |
Type of gene | protein-coding | protein-coding | |
Description | mitogen-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) | protein FRA10AC1fragile site 10q23.3fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P35557 | Q70Z53 | |
Ensembl transtripts involved in fusion gene | ENST00000403799, ENST00000395796, ENST00000345378, ENST00000437084, ENST00000476008, | ENST00000359204, ENST00000460752, ENST00000536233, ENST00000371430, ENST00000394100, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: GCK [Title/Abstract] AND FRA10AC1 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | GCK | GO:0006468 | protein phosphorylation | 11784851 |
Hgene | GCK | GO:0007257 | activation of JUN kinase activity | 17584736 |
Hgene | GCK | GO:0035556 | intracellular signal transduction | 11784851 |
Hgene | GCK | GO:0046330 | positive regulation of JNK cascade | 17584736 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF885201 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000403799 | ENST00000359204 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000403799 | ENST00000460752 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000403799 | ENST00000536233 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000403799 | ENST00000371430 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000403799 | ENST00000394100 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000395796 | ENST00000359204 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000395796 | ENST00000460752 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000395796 | ENST00000536233 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000395796 | ENST00000371430 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000395796 | ENST00000394100 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000345378 | ENST00000359204 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000345378 | ENST00000460752 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000345378 | ENST00000536233 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000345378 | ENST00000371430 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000345378 | ENST00000394100 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000437084 | ENST00000359204 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000437084 | ENST00000460752 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000437084 | ENST00000536233 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000437084 | ENST00000371430 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000437084 | ENST00000394100 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000476008 | ENST00000359204 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000476008 | ENST00000460752 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000476008 | ENST00000536233 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000476008 | ENST00000371430 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
intron-intron | ENST00000476008 | ENST00000394100 | GCK | chr7 | 44184218 | + | FRA10AC1 | chr10 | 95450597 | + |
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FusionProtFeatures for GCK_FRA10AC1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GCK | FRA10AC1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for GCK_FRA10AC1 |
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 GCK_FRA10AC1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GCK_FRA10AC1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GCK_FRA10AC1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GCK | C0342277 | Diabetes mellitus autosomal dominant type II (disorder) | 13 | CTD_human;UNIPROT |
Hgene | GCK | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | CTD_human;HPO;ORPHANET |
Hgene | GCK | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | GCK | C0020456 | Hyperglycemia | 1 | CTD_human;HPO |
Hgene | GCK | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | GCK | C1865290 | Hyperinsulinemic hypoglycemia, familial, 3 | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | GCK | C3888018 | Congenital Hyperinsulinism | 1 | CTD_human |