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Fusion gene ID: 17247 |
FusionGeneSummary for IGHG1_RBM47 |
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Fusion gene information | Fusion gene name: IGHG1_RBM47 | Fusion gene ID: 17247 | Hgene | Tgene | Gene symbol | IGHG1 | RBM47 | Gene ID | 3500 | 54502 |
Gene name | immunoglobulin heavy constant gamma 1 (G1m marker) | RNA binding motif protein 47 | |
Synonyms | - | NET18 | |
Cytomap | 14q32.33 | 4p14 | |
Type of gene | other | protein-coding | |
Description | constant region of heavy chain of IgG1immunoglobulin gamma 1 (Gm marker) | RNA-binding protein 47 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P01857 | A0AV96 | |
Ensembl transtripts involved in fusion gene | ENST00000390548, | ENST00000319592, ENST00000381793, ENST00000381795, ENST00000295971, ENST00000514014, ENST00000515809, | |
Fusion gene scores | * DoF score | 43 X 54 X 5=11610 | 6 X 7 X 3=126 |
# samples | 59 | 7 | |
** MAII score | log2(59/11610*10)=-4.29850920750373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: IGHG1 [Title/Abstract] AND RBM47 [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 |
![]() (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 | BF770043 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
* 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-3CDS | ENST00000390548 | ENST00000319592 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
intron-3CDS | ENST00000390548 | ENST00000381793 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
intron-3CDS | ENST00000390548 | ENST00000381795 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
intron-3CDS | ENST00000390548 | ENST00000295971 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
intron-3CDS | ENST00000390548 | ENST00000514014 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
intron-intron | ENST00000390548 | ENST00000515809 | IGHG1 | chr14 | 106208245 | + | RBM47 | chr4 | 40440404 | - |
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FusionProtFeatures for IGHG1_RBM47 |
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Hgene | Tgene |
IGHG1 | RBM47 |
Constant region of immunoglobulin heavy chains.Immunoglobulins, also known as antibodies, are membrane-bound orsecreted glycoproteins produced by B lymphocytes. In therecognition phase of humoral immunity, the membrane-boundimmunoglobulins serve as receptors which, upon binding of aspecific antigen, trigger the clonal expansion and differentiationof B lymphocytes into immunoglobulins-secreting plasma cells.Secreted immunoglobulins mediate the effector phase of humoralimmunity, which results in the elimination of bound antigens(PubMed:22158414, PubMed:20176268). The antigen binding site isformed by the variable domain of one heavy chain, together withthat of its associated light chain. Thus, each immunoglobulin hastwo antigen binding sites with remarkable affinity for aparticular antigen. The variable domains are assembled by aprocess called V-(D)-J rearrangement and can then be subjected tosomatic hypermutations which, after exposure to antigen andselection, allow affinity maturation for a particular antigen(PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170,ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. |
![]() * 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 IGHG1_RBM47 |
![]() (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 IGHG1_RBM47 |
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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 IGHG1_RBM47 |
![]() (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 IGHG1_RBM47 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | IGHG1 | C0027121 | Myositis | 1 | CTD_human |
Hgene | IGHG1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | RBM47 | C3495559 | Juvenile arthritis | 1 | CTD_human |