![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ASXL1-BPIFB2 (FusionGDB2 ID:HG171023TG80341) |
Fusion Gene Summary for ASXL1-BPIFB2 |
![]() |
Fusion gene information | Fusion gene name: ASXL1-BPIFB2 | Fusion gene ID: hg171023tg80341 | Hgene | Tgene | Gene symbol | ASXL1 | BPIFB2 | Gene ID | 171023 | 80341 |
Gene name | ASXL transcriptional regulator 1 | BPI fold containing family B member 2 | |
Synonyms | BOPS|MDS | BPIL1|C20orf184|LPLUNC2|RYSR|dJ726C3.2 | |
Cytomap | ('ASXL1')('BPIFB2') 20q11.21 | 20q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | polycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1 | BPI fold-containing family B member 2BPI-like 1bactericidal/permeability-increasing protein-like 1long palate, lung and nasal epithelium carcinoma-associated protein 2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000375687, ENST00000542461, ENST00000306058, ENST00000375689, ENST00000470145, | ||
Fusion gene scores | * DoF score | 16 X 10 X 8=1280 | 2 X 4 X 2=16 |
# samples | 21 | 2 | |
** MAII score | log2(21/1280*10)=-2.60768257722124 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/16*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ASXL1 [Title/Abstract] AND BPIFB2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ASXL1(30946635)-BPIFB2(31596347), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | ASXL1-BPIFB2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ASXL1-BPIFB2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. ASXL1-BPIFB2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ASXL1 | GO:0035522 | monoubiquitinated histone H2A deubiquitination | 20436459 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | CESC | TCGA-C5-A1MK-01A | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596347 | + |
ChimerDB4 | CESC | TCGA-C5-A1MK-01A | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596354 | + |
ChimerDB4 | CESC | TCGA-C5-A1MK-01A | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600609 | + |
Top |
Fusion Gene ORF analysis for ASXL1-BPIFB2 |
![]() * 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 |
5CDS-5UTR | ENST00000375687 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596347 | + |
5CDS-5UTR | ENST00000375687 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596354 | + |
5CDS-5UTR | ENST00000542461 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596347 | + |
5CDS-5UTR | ENST00000542461 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596354 | + |
Frame-shift | ENST00000375687 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600609 | + |
Frame-shift | ENST00000542461 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600609 | + |
intron-3CDS | ENST00000306058 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600609 | + |
intron-3CDS | ENST00000375689 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600609 | + |
intron-3CDS | ENST00000470145 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600609 | + |
intron-5UTR | ENST00000306058 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596347 | + |
intron-5UTR | ENST00000306058 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596354 | + |
intron-5UTR | ENST00000375689 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596347 | + |
intron-5UTR | ENST00000375689 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596354 | + |
intron-5UTR | ENST00000470145 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596347 | + |
intron-5UTR | ENST00000470145 | ENST00000170150 | ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596354 | + |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for ASXL1-BPIFB2 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600608 | + | 1.23E-06 | 0.9999988 |
ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596346 | + | 6.46E-07 | 0.9999994 |
ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31600608 | + | 1.23E-06 | 0.9999988 |
ASXL1 | chr20 | 30946635 | + | BPIFB2 | chr20 | 31596346 | + | 6.46E-07 | 0.9999994 |
![]() |
![]() |
Top |
Fusion Protein Features for ASXL1-BPIFB2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:30946635/:31596347) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
![]() |
![]() |
Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 |
Top |
Fusion Gene Sequence for ASXL1-BPIFB2 |
![]() |
Top |
Fusion Gene PPI Analysis for ASXL1-BPIFB2 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for ASXL1-BPIFB2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for ASXL1-BPIFB2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASXL1 | C0796232 | Bohring syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ASXL1 | C0349639 | Juvenile Myelomonocytic Leukemia | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | ASXL1 | C3463824 | MYELODYSPLASTIC SYNDROME | 2 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | ASXL1 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Hgene | ASXL1 | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
Hgene | ASXL1 | C0027708 | Nephroblastoma | 1 | CTD_human |
Hgene | ASXL1 | C1301365 | Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease | 1 | ORPHANET |
Hgene | ASXL1 | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human |
Hgene | ASXL1 | C2930471 | Bilateral Wilms Tumor | 1 | CTD_human |