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Fusion gene ID: 14857 |
FusionGeneSummary for GNAQ_CELF2 |
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Fusion gene information | Fusion gene name: GNAQ_CELF2 | Fusion gene ID: 14857 | Hgene | Tgene | Gene symbol | GNAQ | CELF2 | Gene ID | 2776 | 10659 |
Gene name | G protein subunit alpha q | CUGBP Elav-like family member 2 | |
Synonyms | CMC1|G-ALPHA-q|GAQ|SWS | BRUNOL3|CELF-2|CUG-BP2|CUGBP2|ETR-3|ETR3|NAPOR | |
Cytomap | 9q21.2 | 10p14 | |
Type of gene | protein-coding | protein-coding | |
Description | guanine nucleotide-binding protein G(q) subunit alphaguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-q | CUGBP Elav-like family member 2CUG triplet repeat RNA-binding protein 2CUG-BP- and ETR-3-like factor 2ELAV-type RNA-binding protein 3KDM2B/CELF2 fusionRNA-binding protein BRUNOL-3bruno-like protein 3neuroblastoma apoptosis-related RNA-binding prote | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P50148 | O95319 | |
Ensembl transtripts involved in fusion gene | ENST00000286548, ENST00000397476, | ENST00000379261, ENST00000416382, ENST00000450189, ENST00000542579, ENST00000399850, ENST00000417956, ENST00000354440, ENST00000427450, ENST00000315874, ENST00000608830, ENST00000609692, ENST00000354897, ENST00000537122, | |
Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 6 X 7 X 2=84 |
# samples | 7 | 7 | |
** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GNAQ [Title/Abstract] AND CELF2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CELF2 | GO:0006376 | mRNA splice site selection | 11158314 |
![]() (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 | BI021299 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000286548 | ENST00000379261 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000416382 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000450189 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000542579 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000399850 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000417956 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000354440 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000427450 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000315874 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000608830 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000609692 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000354897 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000286548 | ENST00000537122 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000379261 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000416382 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000450189 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000542579 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000399850 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000417956 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000354440 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000427450 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000315874 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000608830 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000609692 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000354897 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
intron-intron | ENST00000397476 | ENST00000537122 | GNAQ | chr9 | 80590016 | + | CELF2 | chr10 | 11288431 | + |
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FusionProtFeatures for GNAQ_CELF2 |
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Hgene | Tgene |
GNAQ | CELF2 |
Guanine nucleotide-binding proteins (G proteins) areinvolved as modulators or transducers in various transmembranesignaling systems. Regulates B-cell selection and survival and isrequired to prevent B-cell-dependent autoimmunity. Regulateschemotaxis of BM-derived neutrophils and dendritic cells (invitro) (By similarity). {ECO:0000250}. |
![]() * 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 GNAQ_CELF2 |
![]() (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 GNAQ_CELF2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GNAQ_CELF2 |
![]() (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 GNAQ_CELF2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GNAQ | C0220633 | Uveal melanoma | 3 | CTD_human;ORPHANET |
Hgene | GNAQ | C0038505 | Sturge-Weber Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
Hgene | GNAQ | C0001925 | Albuminuria | 1 | CTD_human |
Hgene | GNAQ | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
Hgene | GNAQ | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
Hgene | GNAQ | C0018798 | Congenital Heart Defects | 1 | CTD_human |
Hgene | GNAQ | C0025202 | melanoma | 1 | CTD_human |
Hgene | GNAQ | C0235752 | Port-Wine Stain | 1 | CTD_human;HPO;ORPHANET |
Hgene | GNAQ | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | CELF2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | CELF2 | C0036341 | Schizophrenia | 1 | CTD_human |
Tgene | CELF2 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |