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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ASXL1-LFNG

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ASXL1-LFNG
FusionPDB ID: 7296
FusionGDB2.0 ID: 7296
HgeneTgene
Gene symbol

ASXL1

LFNG

Gene ID

171023

3955

Gene nameASXL transcriptional regulator 1LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
SynonymsBOPS|MDSSCDO3
Cytomap

20q11.21

7p22.3

Type of geneprotein-codingprotein-coding
Descriptionpolycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Modification date2020031320200313
UniProtAcc

Q8IXJ9

Q8NES3

Ensembl transtripts involved in fusion geneENST idsENST00000470145, ENST00000306058, 
ENST00000375687, ENST00000375689, 
ENST00000542461, 
ENST00000222725, 
ENST00000338732, ENST00000402045, 
ENST00000402506, ENST00000359574, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 10 X 8=12802 X 2 X 2=8
# samples 212
** MAII scorelog2(21/1280*10)=-2.60768257722124
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: ASXL1 [Title/Abstract] AND LFNG [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ASXL1(30956926)-LFNG(2566780), # samples:1
Anticipated loss of major functional domain due to fusion event.ASXL1-LFNG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL1-LFNG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL1-LFNG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL1-LFNG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL1-LFNG seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ASXL1-LFNG seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ASXL1-LFNG 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)

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.
all structure

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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-CD-A486-01AASXL1chr20

30956926

+LFNGchr7

2566780

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000375687ASXL1chr2030956926+ENST00000402506LFNGchr72566780+19586761781047289
ENST00000375687ASXL1chr2030956926+ENST00000338732LFNGchr72566780+19586761781047289
ENST00000542461ASXL1chr2030956926+ENST00000402506LFNGchr72566780+19486661711037288
ENST00000542461ASXL1chr2030956926+ENST00000338732LFNGchr72566780+19486661711037288
ENST00000375689ASXL1chr2030956926+ENST00000402506LFNGchr72566780+17044221208417263
ENST00000375689ASXL1chr2030956926+ENST00000338732LFNGchr72566780+17044221208417263
ENST00000306058ASXL1chr2030956926+ENST00000402506LFNGchr72566780+15192371023232263
ENST00000306058ASXL1chr2030956926+ENST00000338732LFNGchr72566780+15192371023232263

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
ENST00000375687ENST00000402506ASXL1chr2030956926+LFNGchr72566780+0.382677260.6173228
ENST00000375687ENST00000338732ASXL1chr2030956926+LFNGchr72566780+0.382677260.6173228
ENST00000542461ENST00000402506ASXL1chr2030956926+LFNGchr72566780+0.374100830.62589914
ENST00000542461ENST00000338732ASXL1chr2030956926+LFNGchr72566780+0.374100830.62589914
ENST00000375689ENST00000402506ASXL1chr2030956926+LFNGchr72566780+0.575948240.4240518
ENST00000375689ENST00000338732ASXL1chr2030956926+LFNGchr72566780+0.575948240.4240518
ENST00000306058ENST00000402506ASXL1chr2030956926+LFNGchr72566780+0.622651040.37734893
ENST00000306058ENST00000338732ASXL1chr2030956926+LFNGchr72566780+0.622651040.37734893

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>7296_7296_1_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000306058_LFNG_chr7_2566780_ENST00000338732_length(amino acids)=263AA_BP=0
MLSSDSPCPGEAKGRPLRRPGRLPTQKSWEGCHCLPSWTASHWGLRGATGTGRWLLLLLSHSVQARRKGIGSRTPRPSLPCNEHGSVSRT
WGYDTGARTSGHRYPQHRACGQQEEKGTYASHPCKVARSPVAVERSKNPNRIALGVASDTQILPPSRPCSPLALGAEAHKWRWCPPLHRA

--------------------------------------------------------------

>7296_7296_2_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000306058_LFNG_chr7_2566780_ENST00000402506_length(amino acids)=263AA_BP=0
MLSSDSPCPGEAKGRPLRRPGRLPTQKSWEGCHCLPSWTASHWGLRGATGTGRWLLLLLSHSVQARRKGIGSRTPRPSLPCNEHGSVSRT
WGYDTGARTSGHRYPQHRACGQQEEKGTYASHPCKVARSPVAVERSKNPNRIALGVASDTQILPPSRPCSPLALGAEAHKWRWCPPLHRA

--------------------------------------------------------------

>7296_7296_3_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000375687_LFNG_chr7_2566780_ENST00000338732_length(amino acids)=289AA_BP=8
MPPWATDAARARGAAAAPPPPPLSRQPVPACPPLLPGRTRDLARRRCHAPPPPPPPPQPRATAPARPARRSRVELPPPPGRRMKDKQKKK
KERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKVPLHPLPPVPGHTL
VSPHCHLLVAMAETQSLGAPGIQRAQGPCCAALASAFEAPLGPCLCVCVCVCVCVYCMPTRVAGCWAVLLCGGAGTSATYVPLLRGPVGC

--------------------------------------------------------------

>7296_7296_4_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000375687_LFNG_chr7_2566780_ENST00000402506_length(amino acids)=289AA_BP=8
MPPWATDAARARGAAAAPPPPPLSRQPVPACPPLLPGRTRDLARRRCHAPPPPPPPPQPRATAPARPARRSRVELPPPPGRRMKDKQKKK
KERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKVPLHPLPPVPGHTL
VSPHCHLLVAMAETQSLGAPGIQRAQGPCCAALASAFEAPLGPCLCVCVCVCVCVYCMPTRVAGCWAVLLCGGAGTSATYVPLLRGPVGC

--------------------------------------------------------------

>7296_7296_5_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000375689_LFNG_chr7_2566780_ENST00000338732_length(amino acids)=263AA_BP=0
MLSSDSPCPGEAKGRPLRRPGRLPTQKSWEGCHCLPSWTASHWGLRGATGTGRWLLLLLSHSVQARRKGIGSRTPRPSLPCNEHGSVSRT
WGYDTGARTSGHRYPQHRACGQQEEKGTYASHPCKVARSPVAVERSKNPNRIALGVASDTQILPPSRPCSPLALGAEAHKWRWCPPLHRA

--------------------------------------------------------------

>7296_7296_6_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000375689_LFNG_chr7_2566780_ENST00000402506_length(amino acids)=263AA_BP=0
MLSSDSPCPGEAKGRPLRRPGRLPTQKSWEGCHCLPSWTASHWGLRGATGTGRWLLLLLSHSVQARRKGIGSRTPRPSLPCNEHGSVSRT
WGYDTGARTSGHRYPQHRACGQQEEKGTYASHPCKVARSPVAVERSKNPNRIALGVASDTQILPPSRPCSPLALGAEAHKWRWCPPLHRA

--------------------------------------------------------------

>7296_7296_7_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000542461_LFNG_chr7_2566780_ENST00000338732_length(amino acids)=288AA_BP=8
MPPWATDAARARGAAAAPPPPPLSRQPVPACPPLLPGRTRDLARRRCHAPPPPPPPPQPRATAPARPARRSRVELPPPPGRRMKDKQKKK
KERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKVPLHPLPPVPGHTLV
SPHCHLLVAMAETQSLGAPGIQRAQGPCCAALASAFEAPLGPCLCVCVCVCVCVYCMPTRVAGCWAVLLCGGAGTSATYVPLLRGPVGCR

--------------------------------------------------------------

>7296_7296_8_ASXL1-LFNG_ASXL1_chr20_30956926_ENST00000542461_LFNG_chr7_2566780_ENST00000402506_length(amino acids)=288AA_BP=8
MPPWATDAARARGAAAAPPPPPLSRQPVPACPPLLPGRTRDLARRRCHAPPPPPPPPQPRATAPARPARRSRVELPPPPGRRMKDKQKKK
KERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKVPLHPLPPVPGHTLV
SPHCHLLVAMAETQSLGAPGIQRAQGPCCAALASAFEAPLGPCLCVCVCVCVCVYCMPTRVAGCWAVLLCGGAGTSATYVPLLRGPVGCR

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:30956926/chr7:2566780)
- 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.
FGviewer

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

Q8IXJ9

LFNG

Q8NES3

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}.FUNCTION: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity). {ECO:0000250|UniProtKB:O09010, ECO:0000269|PubMed:11346656}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+4132_984.01542.0Compositional biasNote=Poly-Lys
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+41311_8684.01542.0DomainHTH HARE-type
TgeneLFNGchr20:30956926chr7:2566780ENST00000359574081_80.0362.0Topological domainCytoplasmic
TgeneLFNGchr20:30956926chr7:2566780ENST000003595740830_3790.0362.0Topological domainLumenal
TgeneLFNGchr20:30956926chr7:2566780ENST00000359574089_290.0362.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+4131457_146084.01542.0Compositional biasNote=Poly-Ser
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413199_20984.01542.0Compositional biasNote=Poly-Ser
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413641_68484.01542.0Compositional biasNote=Gly-rich
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413255_36484.01542.0DomainDEUBAD
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413160_16484.01542.0MotifNuclear localization signal 1
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413284_28884.01542.0MotifNote=LXXLL motif
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413409_41384.01542.0MotifNuclear localization signal 2
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+4131503_154084.01542.0Zinc fingerNote=PHD-type%3B atypical
TgeneLFNGchr20:30956926chr7:2566780ENST00000222725681_8357.6666666666667380.0Topological domainCytoplasmic
TgeneLFNGchr20:30956926chr7:2566780ENST000002227256830_379357.6666666666667380.0Topological domainLumenal
TgeneLFNGchr20:30956926chr7:2566780ENST00000338732681_8228.66666666666666251.0Topological domainCytoplasmic
TgeneLFNGchr20:30956926chr7:2566780ENST000003387326830_379228.66666666666666251.0Topological domainLumenal
TgeneLFNGchr20:30956926chr7:2566780ENST00000402045791_8228.66666666666666251.0Topological domainCytoplasmic
TgeneLFNGchr20:30956926chr7:2566780ENST000004020457930_379228.66666666666666251.0Topological domainLumenal
TgeneLFNGchr20:30956926chr7:2566780ENST00000402506791_8286.6666666666667309.0Topological domainCytoplasmic
TgeneLFNGchr20:30956926chr7:2566780ENST000004025067930_379286.6666666666667309.0Topological domainLumenal
TgeneLFNGchr20:30956926chr7:2566780ENST00000222725689_29357.6666666666667380.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneLFNGchr20:30956926chr7:2566780ENST00000338732689_29228.66666666666666251.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneLFNGchr20:30956926chr7:2566780ENST00000402045799_29228.66666666666666251.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneLFNGchr20:30956926chr7:2566780ENST00000402506799_29286.6666666666667309.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ASXL1
LFNG


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneASXL1chr20:30956926chr7:2566780ENST00000375687+413300_65884.01542.0NCOA1


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Related Drugs to ASXL1-LFNG


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ASXL1-LFNG


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource