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Fusion gene ID: 15387 |
FusionGeneSummary for GRHL2_BAALC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GRHL2_BAALC | Fusion gene ID: 15387 | Hgene | Tgene | Gene symbol | GRHL2 | BAALC | Gene ID | 79977 | 79870 |
| Gene name | grainyhead like transcription factor 2 | BAALC, MAP3K1 and KLF4 binding | |
| Synonyms | BOM|DFNA28|ECTDS|TFCP2L3 | - | |
| Cytomap | 8q22.3 | 8q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | grainyhead-like protein 2 homologbrother of mammalian grainyheadgrainyhead-like 2transcription factor CP2-like 3 | brain and acute leukemia cytoplasmic proteinBAALC, MEKK1 and KLF4 bindingbrain and acute leukemia, cytoplasmic | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q6ISB3 | Q8WXS3 | |
| Ensembl transtripts involved in fusion gene | ENST00000251808, ENST00000395927, ENST00000517674, | ENST00000309982, ENST00000438105, ENST00000297574, ENST00000330955, ENST00000306391, ENST00000523754, | |
| Fusion gene scores | * DoF score | 23 X 10 X 9=2070 | 6 X 2 X 5=60 |
| # samples | 20 | 7 | |
| ** MAII score | log2(20/2070*10)=-3.37155886261196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GRHL2 [Title/Abstract] AND BAALC [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 | GRHL2 | GO:0008544 | epidermis development | 23254293 |
| Hgene | GRHL2 | GO:0044030 | regulation of DNA methylation | 23254293 |
| Hgene | GRHL2 | GO:0045617 | negative regulation of keratinocyte differentiation | 23254293 |
| Hgene | GRHL2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 23814079 |
| 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 | LD | LUAD | TCGA-67-3771-01A | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| * 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 | ENST00000251808 | ENST00000309982 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5CDS-intron | ENST00000251808 | ENST00000438105 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5CDS-intron | ENST00000251808 | ENST00000297574 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5CDS-intron | ENST00000251808 | ENST00000330955 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5CDS-intron | ENST00000251808 | ENST00000306391 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5CDS-intron | ENST00000251808 | ENST00000523754 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5UTR-3CDS | ENST00000395927 | ENST00000309982 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5UTR-intron | ENST00000395927 | ENST00000438105 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5UTR-intron | ENST00000395927 | ENST00000297574 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5UTR-intron | ENST00000395927 | ENST00000330955 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5UTR-intron | ENST00000395927 | ENST00000306391 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| 5UTR-intron | ENST00000395927 | ENST00000523754 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| intron-3CDS | ENST00000517674 | ENST00000309982 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| intron-intron | ENST00000517674 | ENST00000438105 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| intron-intron | ENST00000517674 | ENST00000297574 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| intron-intron | ENST00000517674 | ENST00000330955 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| intron-intron | ENST00000517674 | ENST00000306391 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
| intron-intron | ENST00000517674 | ENST00000523754 | GRHL2 | chr8 | 102505017 | + | BAALC | chr8 | 104225147 | + |
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FusionProtFeatures for GRHL2_BAALC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GRHL2 | BAALC |
| Transcription factor playing an important role inprimary neurulation and in epithelial development(PubMed:29309642, PubMed:25152456). Binds directly to theconsensus DNA sequence 5'-AACCGGTT-3' acting as an activator andrepressor on distinct target genes (By similarity). Duringembryogenesis, plays unique and cooperative roles with GRHL3 inestablishing distinct zones of primary neurulation. Essential forclosure 3 (rostral end of the forebrain), functions cooperativelywith GRHL3 in closure 2 (forebrain/midbrain boundary) andposterior neuropore closure (By similarity). Regulates epithelialmorphogenesis acting as a target gene-associated transcriptionalactivator of apical junctional complex components. Up-regulates ofCLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4protein and its localization at tight junctions (By similarity).Comprises an essential component of the transcriptional machinerythat establishes appropriate expression levels of CLDN4 and CDH1in different types of epithelia. Exhibits functional redundancywith GRHL3 in epidermal morphogenetic events and epidermal woundrepair (By similarity). In lung, forms a regulatory loop withNKX2-1 that coordinates lung epithelial cell morphogenesis anddifferentiation (By similarity). In keratinocytes, plays a role intelomerase activation during cellular proliferation, regulatesTERT expression by binding to TERT promoter region and inhibitingDNA methylation at the 5'-CpG island, possibly by interfering withDNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). Inaddition, impairs keratinocyte differentiation and epidermalfunction by inhibiting the expression of genes clustered at theepidermal differentiation complex (EDC) as well as GRHL1 and GRHL3through epigenetic mechanisms (PubMed:23254293).{ECO:0000250|UniProtKB:Q8K5C0, ECO:0000269|PubMed:19015635,ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:20978075,ECO:0000269|PubMed:23254293, ECO:0000269|PubMed:25152456,ECO:0000269|PubMed:29309642, ECO:0000305|PubMed:12175488}. | May play a synaptic role at the postsynaptic lipid raftspossibly through interaction with CAMK2A.{ECO:0000250|UniProtKB:Q920K5}. |
| 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 GRHL2_BAALC |
| 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 GRHL2_BAALC |
| 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 |
| GRHL2 | GRHL3, APP, LMO4, GRHL1, FOXA1 | BAALC | MDFI, ATXN1, CHEK2, MAP3K1, KLF4, ATP1B3, RNF2, CHD1L, CINP, OSBPL1A, AP1G1 |
| - 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 GRHL2_BAALC |
| 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 GRHL2_BAALC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GRHL2 | C4014987 | ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME | 1 | ORPHANET;UNIPROT |
| Tgene | BAALC | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
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