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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: 3055

FusionGeneSummary for ASXL1_HCK

check button Fusion gene summary
Fusion gene informationFusion gene name: ASXL1_HCK
Fusion gene ID: 3055
HgeneTgene
Gene symbol

ASXL1

HCK

Gene ID

171023

3055

Gene nameASXL transcriptional regulator 1HCK proto-oncogene, Src family tyrosine kinase
SynonymsBOPS|MDSJTK9|p59Hck|p61Hck
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 1tyrosine-protein kinase HCKhematopoietic cell kinasehemopoietic cell kinasep59-HCK/p60-HCK
Modification date2018052620180523
UniProtAcc

Q8IXJ9

P08631

Ensembl transtripts involved in fusion geneENST00000375687, ENST00000542461, 
ENST00000375689, ENST00000306058, 
ENST00000470145, 		ENST00000534862, 
ENST00000538448, ENST00000375862, 
ENST00000520553, ENST00000518730, 
ENST00000375852, 
Fusion gene scores* DoF score10 X 5 X 9=4506 X 4 X 5=120
# samples 137
** MAII scorelog2(13/450*10)=-1.79141337818858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASXL1 [Title/Abstract] AND HCK [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

TgeneHCK

GO:0071801

regulation of podosome assembly

15998323

TgeneHCK

GO:2000251

positive regulation of actin cytoskeleton reorganization

15998323


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
TCGALDOVTCGA-31-1953-01AASXL1chr20

30946635

+HCKchr20

30659465

+
* 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-shiftENST00000375687ENST00000534862ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000375687ENST00000538448ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000375687ENST00000375862ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000375687ENST00000520553ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000375687ENST00000518730ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000375687ENST00000375852ASXL1chr20

30946635

+HCKchr20

30659465

+
Frame-shiftENST00000542461ENST00000534862ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000542461ENST00000538448ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000542461ENST00000375862ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000542461ENST00000520553ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000542461ENST00000518730ASXL1chr20

30946635

+HCKchr20

30659465

+
5CDS-5UTRENST00000542461ENST00000375852ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-3CDSENST00000375689ENST00000534862ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000375689ENST00000538448ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000375689ENST00000375862ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000375689ENST00000520553ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000375689ENST00000518730ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000375689ENST00000375852ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-3CDSENST00000306058ENST00000534862ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000306058ENST00000538448ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000306058ENST00000375862ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000306058ENST00000520553ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000306058ENST00000518730ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000306058ENST00000375852ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-3CDSENST00000470145ENST00000534862ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000470145ENST00000538448ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000470145ENST00000375862ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000470145ENST00000520553ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000470145ENST00000518730ASXL1chr20

30946635

+HCKchr20

30659465

+
intron-5UTRENST00000470145ENST00000375852ASXL1chr20

30946635

+HCKchr20

30659465

+

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FusionProtFeatures for ASXL1_HCK


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

Q8IXJ9

HCK

P08631


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_HCK


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_HCK


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, UBCHCKBCR, CBL, RAPGEF1, UNC119, DOK1, ELMO1, WIPF1, WAS, BCAR1, ABL1, SKAP2, BTK, PECAM1, CCR3, CSF3R, CHST15, ADAM15, IL6ST, RPL10, TRPV4, RASA3, RASA1, FCGR1A, MAP4K5, SRC, MYC, KHDRBS1, SH3KBP1, CREBBP, FASLG, TNK2, PAK2, APP, MED28, ACTB, RUFY1, HSP90AA1, ERBB3, STAT3, ABL2, WNT2, SPRR2A, MTUS2, GOPC, KRT40, KRTAP10-9, NOTCH2NL, EGFR, MDM2, KRAS, NGEF, PIK3R3, FRS3, LETMD1, OLIG1, PTK2, GRB14, FHL2, PIK3CB, CDC37, LMNA


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_HCK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHCKP08631DB06616BosutinibTyrosine-protein kinase HCKsmall moleculeapproved

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RelatedDiseases for ASXL1_HCK


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
TgeneHCKC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneHCKC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human