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Fusion gene ID: 14197 |
FusionGeneSummary for GAB2_FGF7 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GAB2_FGF7 | Fusion gene ID: 14197 | Hgene | Tgene | Gene symbol | GAB2 | FGF7 | Gene ID | 9846 | 2252 |
Gene name | GRB2 associated binding protein 2 | fibroblast growth factor 7 | |
Synonyms | - | HBGF-7|KGF | |
Cytomap | 11q14.1 | 15q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | GRB2-associated-binding protein 2Grb2-associated binder 2growth factor receptor bound protein 2-associated protein 2pp100 | fibroblast growth factor 7FGF-7heparin-binding growth factor 7keratinocyte growth factor | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | Q9UQC2 | P21781 | |
Ensembl transtripts involved in fusion gene | ENST00000340149, ENST00000361507, ENST00000526030, | ENST00000267843, ENST00000560270, ENST00000560704, | |
Fusion gene scores | * DoF score | 16 X 10 X 5=800 | 5 X 2 X 4=40 |
# samples | 16 | 6 | |
** MAII score | log2(16/800*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/40*10)=0.584962500721156 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GAB2 [Title/Abstract] AND FGF7 [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 | GAB2 | GO:0008284 | positive regulation of cell proliferation | 19172738 |
Tgene | FGF7 | GO:0010463 | mesenchymal cell proliferation | 11023837 |
Tgene | FGF7 | GO:0010838 | positive regulation of keratinocyte proliferation | 17449030 |
Tgene | FGF7 | GO:0031532 | actin cytoskeleton reorganization | 17449030 |
Tgene | FGF7 | GO:0034394 | protein localization to cell surface | 17449030 |
Tgene | FGF7 | GO:0050679 | positive regulation of epithelial cell proliferation | 11493558|15690149 |
Tgene | FGF7 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 17449030 |
Tgene | FGF7 | GO:0050918 | positive chemotaxis | 17449030 |
Tgene | FGF7 | GO:0051549 | positive regulation of keratinocyte migration | 17449030 |
Tgene | FGF7 | GO:0060501 | positive regulation of epithelial cell proliferation involved in lung morphogenesis | 9740653 |
Tgene | FGF7 | GO:0061033 | secretion by lung epithelial cell involved in lung growth | 10541313 |
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 |
TCGA | RV | SKCM | TCGA-ER-A19T-06A | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
TCGA | RV | SKCM | TCGA-ER-A19T-01A | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
* 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 |
Frame-shift | ENST00000340149 | ENST00000267843 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
5CDS-intron | ENST00000340149 | ENST00000560270 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
5CDS-3UTR | ENST00000340149 | ENST00000560704 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
Frame-shift | ENST00000361507 | ENST00000267843 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
5CDS-intron | ENST00000361507 | ENST00000560270 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
5CDS-3UTR | ENST00000361507 | ENST00000560704 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
intron-3CDS | ENST00000526030 | ENST00000267843 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
intron-intron | ENST00000526030 | ENST00000560270 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
intron-3UTR | ENST00000526030 | ENST00000560704 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49775348 | + |
5CDS-5UTR | ENST00000340149 | ENST00000267843 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
5CDS-5UTR | ENST00000340149 | ENST00000560270 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
5CDS-intron | ENST00000340149 | ENST00000560704 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
5CDS-5UTR | ENST00000361507 | ENST00000267843 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
5CDS-5UTR | ENST00000361507 | ENST00000560270 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
5CDS-intron | ENST00000361507 | ENST00000560704 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
intron-5UTR | ENST00000526030 | ENST00000267843 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
intron-5UTR | ENST00000526030 | ENST00000560270 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
intron-intron | ENST00000526030 | ENST00000560704 | GAB2 | chr11 | 77961203 | - | FGF7 | chr15 | 49716229 | + |
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FusionProtFeatures for GAB2_FGF7 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GAB2 | FGF7 |
Adapter protein which acts downstream of severalmembrane receptors including cytokine, antigen, hormone, cellmatrix and growth factor receptors to regulate multiple signalingpathways. Regulates osteoclast differentiation mediating theTNFRSF11A/RANK signaling. In allergic response, it plays a role inmast cells activation and degranulation through PI-3-kinaseregulation. Also involved in the regulation of cell proliferationand hematopoiesis. {ECO:0000269|PubMed:15750601,ECO:0000269|PubMed:19172738}. | Plays an important role in the regulation of embryonicdevelopment, cell proliferation and cell differentiation. Requiredfor normal branching morphogenesis. Growth factor active onkeratinocytes. Possible major paracrine effector of normalepithelial cell proliferation. {ECO:0000269|PubMed:16597617,ECO:0000269|PubMed:8663044}. |
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 GAB2_FGF7 |
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 GAB2_FGF7 |
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 |
GAB2 | BCR, GRB2, ETV6, ARHGAP32, LYN, PLCG2, PTPN11, SHC1, ZAP70, CD247, LAT, PTPN6, PIK3R1, AKT1, GRAP, SRC, NCK1, PLCG1, CRKL, MET, GRAP2, LRRK1, PIK3R2, CRK, PIK3CB, MAPK1, MAPK3, MARK2, GAB1, GAB2, YWHAE, NTRK1, XPO1, FRS2, TGM4, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, SRSF12, RTKN, MAST3, SYDE1, PPM1H, AGAP1, CDC25B, CDK16, FAM110B, USP21, ANKRD34A, FAM53C, CGN, FAM110A, DENND4C, HDAC4, MAPKAP1, TBC1D25, NF1, NADK, CBY1, RAB3IP | FGF7 | HSPG2, FGFR2, DESI1, UBQLN1 |
- 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 GAB2_FGF7 |
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 GAB2_FGF7 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GAB2 | C0025202 | melanoma | 1 | CTD_human |
Hgene | GAB2 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | GAB2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | FGF7 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | FGF7 | C0008924 | Cleft Lip | 1 | CTD_human |
Tgene | FGF7 | C0008925 | Cleft Palate | 1 | CTD_human |
Tgene | FGF7 | C0017566 | Gingival Hyperplasia | 1 | CTD_human |
Tgene | FGF7 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | FGF7 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Tgene | FGF7 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | FGF7 | C0273115 | Lung Injury | 1 | CTD_human |
Tgene | FGF7 | C2937421 | Prostatic Hyperplasia | 1 | CTD_human |