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Fusion gene ID: 15393 |
FusionGeneSummary for GRHL2_HNRNPD |
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Fusion gene information | Fusion gene name: GRHL2_HNRNPD | Fusion gene ID: 15393 | Hgene | Tgene | Gene symbol | GRHL2 | HNRNPD | Gene ID | 79977 | 3184 |
Gene name | grainyhead like transcription factor 2 | heterogeneous nuclear ribonucleoprotein D | |
Synonyms | BOM|DFNA28|ECTDS|TFCP2L3 | AUF1|AUF1A|HNRPD|P37|hnRNPD0 | |
Cytomap | 8q22.3 | 4q21.22 | |
Type of gene | protein-coding | protein-coding | |
Description | grainyhead-like protein 2 homologbrother of mammalian grainyheadgrainyhead-like 2transcription factor CP2-like 3 | heterogeneous nuclear ribonucleoprotein D0ARE-binding protein AUFI, type AAU-rich element RNA binding protein 1, 37kDahnRNP D0 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q6ISB3 | Q14103 | |
Ensembl transtripts involved in fusion gene | ENST00000251808, ENST00000395927, ENST00000517674, | ENST00000313899, ENST00000353341, ENST00000543098, ENST00000352301, ENST00000508119, ENST00000541060, | |
Fusion gene scores | * DoF score | 23 X 10 X 9=2070 | 10 X 10 X 3=300 |
# samples | 20 | 12 | |
** MAII score | log2(20/2070*10)=-3.37155886261196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/300*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GRHL2 [Title/Abstract] AND HNRNPD [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 |
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 |
![]() (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 | BE935692 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
* 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 | ENST00000251808 | ENST00000313899 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000251808 | ENST00000353341 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000251808 | ENST00000543098 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000251808 | ENST00000352301 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000251808 | ENST00000508119 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000251808 | ENST00000541060 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000395927 | ENST00000313899 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000395927 | ENST00000353341 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000395927 | ENST00000543098 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000395927 | ENST00000352301 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000395927 | ENST00000508119 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000395927 | ENST00000541060 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000517674 | ENST00000313899 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000517674 | ENST00000353341 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000517674 | ENST00000543098 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000517674 | ENST00000352301 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000517674 | ENST00000508119 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
intron-intron | ENST00000517674 | ENST00000541060 | GRHL2 | chr8 | 102629189 | + | HNRNPD | chr4 | 83284211 | - |
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FusionProtFeatures for GRHL2_HNRNPD |
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Hgene | Tgene |
GRHL2 | HNRNPD |
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}. |
![]() * 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_HNRNPD |
![]() (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_HNRNPD |
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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 GRHL2_HNRNPD |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | HNRNPD | Q14103 | DB11638 | Artenimol | Heterogeneous nuclear ribonucleoprotein D0 | small molecule | approved|investigational |
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RelatedDiseases for GRHL2_HNRNPD |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GRHL2 | C4014987 | ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME | 1 | ORPHANET;UNIPROT |