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Fusion gene ID: 25546 |
FusionGeneSummary for OSBPL3_FOXA1 |
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Fusion gene information | Fusion gene name: OSBPL3_FOXA1 | Fusion gene ID: 25546 | Hgene | Tgene | Gene symbol | OSBPL3 | FOXA1 | Gene ID | 26031 | 3169 |
Gene name | oxysterol binding protein like 3 | forkhead box A1 | |
Synonyms | ORP-3|ORP3|OSBP3 | HNF3A|TCF3A | |
Cytomap | 7p15.3 | 14q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | oxysterol-binding protein-related protein 3OSBP-related protein 3 | hepatocyte nuclear factor 3-alphaHNF-3-alphaHNF-3ATCF-3Aforkhead box protein A1transcription factor 3A | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9H4L5 | P55317 | |
Ensembl transtripts involved in fusion gene | ENST00000313367, ENST00000431825, ENST00000352860, ENST00000353930, ENST00000396431, ENST00000409069, ENST00000396429, ENST00000487020, | ENST00000250448, ENST00000540786, ENST00000545425, | |
Fusion gene scores | * DoF score | 8 X 3 X 5=120 | 5 X 4 X 3=60 |
# samples | 7 | 5 | |
** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: OSBPL3 [Title/Abstract] AND FOXA1 [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 |
Tgene | FOXA1 | GO:0032355 | response to estradiol | 16087863 |
Tgene | FOXA1 | GO:0043065 | positive regulation of apoptotic process | 19127412 |
Tgene | FOXA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16331276|19127412|20160041 |
![]() (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 | AA371447 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
* 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 | ENST00000313367 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000313367 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000313367 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000431825 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000431825 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000431825 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000352860 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000352860 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000352860 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000353930 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000353930 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000353930 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000396431 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000396431 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000396431 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000409069 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000409069 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000409069 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000396429 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000396429 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000396429 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000487020 | ENST00000250448 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-3CDS | ENST00000487020 | ENST00000540786 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
intron-5UTR | ENST00000487020 | ENST00000545425 | OSBPL3 | chr7 | 24843941 | - | FOXA1 | chr14 | 38060665 | - |
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FusionProtFeatures for OSBPL3_FOXA1 |
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Hgene | Tgene |
OSBPL3 | FOXA1 |
Transcription factor that is involved in embryonicdevelopment, establishment of tissue-specific gene expression andregulation of gene expression in differentiated tissues. Isthought to act as a 'pioneer' factor opening the compactedchromatin for other proteins through interactions with nucleosomalcore histones and thereby replacing linker histones at targetenhancer and/or promoter sites. Binds DNA with the consensussequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity).Proposed to play a role in translating the epigenetic signaturesinto cell type-specific enhancer-driven transcriptional programs.Its differential recruitment to chromatin is dependent ondistribution of histone H3 methylated at 'Lys-5' (H3K4me2) inestrogen-regulated genes. Involved in the development of multipleendoderm-derived organ systems such as liver, pancreas, lung andprostate; FOXA1 and FOXA2 seem to have at least in part redundantroles (By similarity). Modulates the transcriptional activity ofnuclear hormone receptors. Is involved in ESR1-mediatedtranscription; required for ESR1 binding to the NKX2-1 promoter inbreast cancer cells; binds to the RPRM promoter and is requiredfor the estrogen-induced repression of RPRM. Involved inregulation of apoptosis by inhibiting the expression of BCL2.Involved in cell cycle regulation by activating expression ofCDKN1B, alone or in conjunction with BRCA1. Originally describedas a transcription activator for a number of liver genes such asAFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interactswith the cis-acting regulatory regions of these genes. Involved inglucose homeostasis. {ECO:0000250, ECO:0000269|PubMed:16087863,ECO:0000269|PubMed:16331276, ECO:0000269|PubMed:18358809,ECO:0000269|PubMed:19127412, ECO:0000269|PubMed:19917725}. |
![]() * 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 OSBPL3_FOXA1 |
![]() (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 OSBPL3_FOXA1 |
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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 OSBPL3_FOXA1 |
![]() (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 OSBPL3_FOXA1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FOXA1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | FOXA1 | C0015695 | Fatty Liver | 1 | CTD_human |
Tgene | FOXA1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |