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Fusion gene ID: 15236 |
FusionGeneSummary for GPNMB_IRF6 |
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Fusion gene information | Fusion gene name: GPNMB_IRF6 | Fusion gene ID: 15236 | Hgene | Tgene | Gene symbol | GPNMB | IRF6 | Gene ID | 10457 | 3664 |
Gene name | glycoprotein nmb | interferon regulatory factor 6 | |
Synonyms | HGFIN|NMB|PLCA3 | LPS|OFC6|PIT|PPS|PPS1|VWS|VWS1 | |
Cytomap | 7p15.3 | 1q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | transmembrane glycoprotein NMBglycoprotein (transmembrane) nmbglycoprotein nmb-like proteinglycoprotein nonmetastatic melanoma protein Bhematopoietic growth factor inducible neurokinin-1osteoactivintransmembrane glycoprotein HGFIN | interferon regulatory factor 6 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q14956 | O14896 | |
Ensembl transtripts involved in fusion gene | ENST00000258733, ENST00000381990, ENST00000409458, ENST00000539136, ENST00000453162, ENST00000478451, | ENST00000367021, ENST00000542854, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 2 X 2 X 2=8 |
# samples | 4 | 2 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: GPNMB [Title/Abstract] AND IRF6 [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 | GPNMB | GO:0001818 | negative regulation of cytokine production | 19350579 |
Hgene | GPNMB | GO:0001934 | positive regulation of protein phosphorylation | 22891158 |
Hgene | GPNMB | GO:0030335 | positive regulation of cell migration | 20711474 |
Hgene | GPNMB | GO:0031954 | positive regulation of protein autophosphorylation | 19350579 |
Hgene | GPNMB | GO:0034103 | regulation of tissue remodeling | 25010402 |
Hgene | GPNMB | GO:0042130 | negative regulation of T cell proliferation | 19350579 |
Hgene | GPNMB | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 19350579 |
Tgene | IRF6 | GO:0007050 | cell cycle arrest | 18212048 |
Tgene | IRF6 | GO:0008285 | negative regulation of cell proliferation | 18212048 |
Tgene | IRF6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21807998 |
![]() (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 | LUSC | TCGA-98-8021-01A | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
* 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 |
3UTR-intron | ENST00000258733 | ENST00000367021 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000258733 | ENST00000542854 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000381990 | ENST00000367021 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000381990 | ENST00000542854 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
intron-intron | ENST00000409458 | ENST00000367021 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
intron-intron | ENST00000409458 | ENST00000542854 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
5CDS-intron | ENST00000539136 | ENST00000367021 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
5CDS-intron | ENST00000539136 | ENST00000542854 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000453162 | ENST00000367021 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000453162 | ENST00000542854 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000478451 | ENST00000367021 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
3UTR-intron | ENST00000478451 | ENST00000542854 | GPNMB | chr7 | 23314253 | + | IRF6 | chr1 | 209979465 | - |
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FusionProtFeatures for GPNMB_IRF6 |
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Hgene | Tgene |
GPNMB | IRF6 |
Could be a melanogenic enzyme. {ECO:0000250}. | Probable DNA-binding transcriptional activator. Keydeterminant of the keratinocyte proliferation-differentiationswitch involved in appropriate epidermal development (Bysimilarity). Plays a role in regulating mammary epithelial cellproliferation (By similarity). May regulate WDR65 transcription(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 GPNMB_IRF6 |
![]() (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 GPNMB_IRF6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
GPNMB | ITSN2, SMAD4, IL31RA, TFEB, FBXL4, LINC01139, EGFR | IRF6 | TLX2, RFX3, ZBTB3, BNC2, IRF5, IRF8 |
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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 GPNMB_IRF6 |
![]() (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 GPNMB_IRF6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GPNMB | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
Hgene | GPNMB | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | GPNMB | C0162557 | Liver Failure, Acute | 1 | CTD_human |
Hgene | GPNMB | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | GPNMB | C2609414 | Acute kidney injury | 1 | CTD_human |
Tgene | IRF6 | C0175697 | Van der Woude syndrome | 12 | CTD_human;ORPHANET;UNIPROT |
Tgene | IRF6 | C0008924 | Cleft Lip | 3 | CTD_human;HPO;ORPHANET |
Tgene | IRF6 | C0265259 | Popliteal pterygium syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | IRF6 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
Tgene | IRF6 | C0037268 | Skin Abnormalities | 1 | CTD_human |
Tgene | IRF6 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
Tgene | IRF6 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |