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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3058

FusionGeneSummary for ASXL1_TPX2

check button Fusion gene summary
Fusion gene informationFusion gene name: ASXL1_TPX2
Fusion gene ID: 3058
HgeneTgene
Gene symbol

ASXL1

TPX2

Gene ID

171023

22974

Gene nameASXL transcriptional regulator 1TPX2, microtubule nucleation factor
SynonymsBOPS|MDSC20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100
Cytomap

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionputative Polycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1targeting protein for Xklp2TPX2, microtubule-associated protein homologTPX2, microtubule-associated, homologdifferentially expressed in cancerous and non-cancerous lung cells 2differentially expressed in lung cellshepatocellular carcinoma-associated
Modification date2018052620180519
UniProtAcc

Q8IXJ9

Q9ULW0

Ensembl transtripts involved in fusion geneENST00000375687, ENST00000542461, 
ENST00000375689, ENST00000306058, 
ENST00000470145, 
ENST00000340513, 
ENST00000300403, 
Fusion gene scores* DoF score10 X 5 X 9=4506 X 6 X 5=180
# samples 136
** MAII scorelog2(13/450*10)=-1.79141337818858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASXL1 [Title/Abstract] AND TPX2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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

TgeneTPX2

GO:0032147

activation of protein kinase activity

14580337|19801554

TgeneTPX2

GO:0090307

mitotic spindle assembly

26165940


check button Fusion gene information from three resources
(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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVESCATCGA-L5-A891-01AASXL1chr20

30956926

+TPX2chr20

30359363

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000375687ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000375687ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000542461ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000542461ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000375689ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000375689ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000306058ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shitENST00000306058ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
3UTR-3CDSENST00000470145ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
3UTR-3CDSENST00000470145ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+

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FusionProtFeatures for ASXL1_TPX2


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

Q8IXJ9

TPX2

Q9ULW0

Spindle assembly factor required for normal assembly ofmitotic spindles. Required for normal assembly of microtubulesduring apoptosis. Required for chromatin and/or kinetochoredependent microtubule nucleation. Mediates AURKA localization tospindle microtubules (PubMed:18663142, PubMed:19208764). ActivatesAURKA by promoting its autophosphorylation at 'Thr-288' andprotects this residue against dephosphorylation (PubMed:18663142,PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interactswith importin-alpha, liberating TPX2 from importin-alpha, allowingTPX2 to activates AURKA kinase and stimulates local microtubulenucleation (PubMed:26165940). {ECO:0000269|PubMed:18663142,ECO:0000269|PubMed:19208764, ECO:0000269|PubMed:26165940}.

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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FusionGeneSequence for ASXL1_TPX2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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 ASXL1_TPX2


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
ASXL1BAP1, HIST1H1C, AKT1, CEBPA, APP, EZH2, EED, STAT3, SRPK1, FOXK2, OGT, HCFC1, FOXK1, UBCTPX2AURKA, FZR1, KPNA1, KPNB1, HMMR, BRCA1, SIAH2, ZNF598, NDUFA7, THUMPD2, DNAJC8, MRPL53, SERPINH1, UBE2S, PPIF, SARNP, TWF1, SCAMP3, CDK6, IKBKB, CHUK, IKBKG, AURKB, LMNA, HDAC9, THAP11, NAP1L1, RPA3, RPA2, RPA1, GOLGA2, MAPK14, GSTM3, HIST1H2BG, AFAP1, SAP130, RBPJ, CDC5L, RNF111


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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RelatedDrugs for ASXL1_TPX2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ASXL1_TPX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASXL1C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneASXL1C0027643Neoplasm Recurrence, Local1CTD_human
HgeneASXL1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
HgeneASXL1C0796232Bohring syndrome1CTD_human;ORPHANET