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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ASXL1-BPIFB2 (FusionGDB2 ID:7374)

Fusion Gene Summary for ASXL1-BPIFB2

check button Fusion gene summary
Fusion gene informationFusion gene name: ASXL1-BPIFB2
Fusion gene ID: 7374
HgeneTgene
Gene symbol

ASXL1

BPIFB2

Gene ID

171023

80341

Gene nameASXL transcriptional regulator 1BPI fold containing family B member 2
SynonymsBOPS|MDSBPIL1|C20orf184|LPLUNC2|RYSR|dJ726C3.2
Cytomap

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionpolycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1BPI fold-containing family B member 2BPI-like 1bactericidal/permeability-increasing protein-like 1long palate, lung and nasal epithelium carcinoma-associated protein 2
Modification date2020031320200313
UniProtAcc

Q8IXJ9

Q8N4F0

Ensembl transtripts involved in fusion geneENST00000375687, ENST00000542461, 
ENST00000375689, ENST00000306058, 
ENST00000470145, 		ENST00000170150, 
Fusion gene scores* DoF score16 X 10 X 8=12802 X 4 X 2=16
# samples 212
** MAII scorelog2(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 breakpointASXL1(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 tumor suppressor 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.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneASXL1

GO:0035522

monoubiquitinated histone H2A deubiquitination

20436459


check buttonFusion gene breakpoints across ASXL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BPIFB2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4CESCTCGA-C5-A1MK-01AASXL1chr20

30946635

+BPIFB2chr20

31596347

+
ChimerDB4CESCTCGA-C5-A1MK-01AASXL1chr20

30946635

+BPIFB2chr20

31596347

+
ChimerDB4CESCTCGA-C5-A1MK-01AASXL1chr20

30946635

+BPIFB2chr20

31596354

+
ChimerDB4CESCTCGA-C5-A1MK-01AASXL1chr20

30946635

+BPIFB2chr20

31600609

+


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Fusion Gene ORF analysis for ASXL1-BPIFB2

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000375687ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596347

+
5CDS-5UTRENST00000542461ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596347

+
intron-5UTRENST00000375689ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596347

+
intron-5UTRENST00000306058ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596347

+
intron-5UTRENST00000470145ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596347

+
5CDS-5UTRENST00000375687ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596354

+
5CDS-5UTRENST00000542461ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596354

+
intron-5UTRENST00000375689ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596354

+
intron-5UTRENST00000306058ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596354

+
intron-5UTRENST00000470145ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31596354

+
Frame-shiftENST00000375687ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31600609

+
Frame-shiftENST00000542461ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31600609

+
intron-3CDSENST00000375689ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31600609

+
intron-3CDSENST00000306058ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31600609

+
intron-3CDSENST00000470145ENST00000170150ASXL1chr20

30946635

+BPIFB2chr20

31600609

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ASXL1-BPIFB2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ASXL1chr2030946635+BPIFB2chr2031600608+1.23E-060.9999988
ASXL1chr2030946635+BPIFB2chr2031596346+6.46E-070.9999994
ASXL1chr2030946635+BPIFB2chr2031600608+1.23E-060.9999988
ASXL1chr2030946635+BPIFB2chr2031596346+6.46E-070.9999994

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ASXL1-BPIFB2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASXL1

Q8IXJ9

BPIFB2

Q8N4F0

FUNCTION: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744). {ECO:0000250|UniProtKB:P59598, ECO:0000269|PubMed:16606617, ECO:0000269|PubMed:20436459, ECO:0000269|PubMed:30982744}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ASXL1-BPIFB2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ASXL1-BPIFB2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ASXL1-BPIFB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ASXL1-BPIFB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASXL1C0796232Bohring syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneASXL1C0349639Juvenile Myelomonocytic Leukemia2CTD_human;GENOMICS_ENGLAND
HgeneASXL1C3463824MYELODYSPLASTIC SYNDROME2CGI;CTD_human;GENOMICS_ENGLAND
HgeneASXL1C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneASXL1C0027643Neoplasm Recurrence, Local1CTD_human
HgeneASXL1C0027708Nephroblastoma1CTD_human
HgeneASXL1C1301365Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease1ORPHANET
HgeneASXL1C2713368Hematopoetic Myelodysplasia1CTD_human
HgeneASXL1C2930471Bilateral Wilms Tumor1CTD_human