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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: 258

FusionGeneSummary for ABL1_NUP214

check button Fusion gene summary
Fusion gene informationFusion gene name: ABL1_NUP214
Fusion gene ID: 258
HgeneTgene
Gene symbol

ABL1

NUP214

Gene ID

25

8021

Gene nameABL proto-oncogene 1, non-receptor tyrosine kinasenucleoporin 214
SynonymsABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-ablCAIN|CAN
Cytomap

9q34.12

9q34.13

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase ABL1Abelson tyrosine-protein kinase 1bcr/c-abl oncogene proteinc-abl oncogene 1, receptor tyrosine kinaseproto-oncogene c-Ablproto-oncogene tyrosine-protein kinase ABL1v-abl Abelson murine leukemia viral oncogene homolog 1nuclear pore complex protein Nup214CAN protein, putative oncogenenucleoporin 214kDa
Modification date2018052720180523
UniProtAcc

P00519

P35658

Ensembl transtripts involved in fusion geneENST00000318560, ENST00000359428, 
ENST00000411637, ENST00000451030, 
ENST00000483497, ENST00000465486, 
Fusion gene scores* DoF score14 X 13 X 10=18206 X 7 X 4=168
# samples 237
** MAII scorelog2(23/1820*10)=-2.98423268414168
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABL1 [Title/Abstract] AND NUP214 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Transcription factor involved fusion gene, inframe and retained DNA-binding 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
HgeneABL1

GO:0006974

cellular response to DNA damage stimulus

15657060

HgeneABL1

GO:0006975

DNA damage induced protein phosphorylation

18280240

HgeneABL1

GO:0018108

peptidyl-tyrosine phosphorylation

7590236|9144171|10713049|11121037

HgeneABL1

GO:0038083

peptidyl-tyrosine autophosphorylation

10518561

HgeneABL1

GO:0042770

signal transduction in response to DNA damage

9037071|15657060

HgeneABL1

GO:0043065

positive regulation of apoptotic process

9037071

HgeneABL1

GO:0046777

protein autophosphorylation

10713049

HgeneABL1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

15657060

HgeneABL1

GO:0051353

positive regulation of oxidoreductase activity

12893824

HgeneABL1

GO:0051444

negative regulation of ubiquitin-protein transferase activity

20823226

HgeneABL1

GO:0070301

cellular response to hydrogen peroxide

10713049

HgeneABL1

GO:0071901

negative regulation of protein serine/threonine kinase activity

11121037

HgeneABL1

GO:1990051

activation of protein kinase C activity

10713049

HgeneABL1

GO:2001020

regulation of response to DNA damage stimulus

9461559


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
TCGALDBRCATCGA-D8-A1J9-01AABL1chr9

133748424

+NUP214chr9

134014668

+
TCGALDBRCATCGA-D8-A1JC-01AABL1chr9

133589842

+NUP214chr9

134007983

+
* 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-shitENST00000318560ENST00000359428ABL1chr9

133748424

+NUP214chr9

134014668

+
Frame-shitENST00000318560ENST00000411637ABL1chr9

133748424

+NUP214chr9

134014668

+
Frame-shitENST00000318560ENST00000451030ABL1chr9

133748424

+NUP214chr9

134014668

+
5CDS-intronENST00000318560ENST00000483497ABL1chr9

133748424

+NUP214chr9

134014668

+
5CDS-intronENST00000318560ENST00000465486ABL1chr9

133748424

+NUP214chr9

134014668

+
intron-3CDSENST00000318560ENST00000359428ABL1chr9

133589842

+NUP214chr9

134007983

+
intron-3CDSENST00000318560ENST00000411637ABL1chr9

133589842

+NUP214chr9

134007983

+
intron-3CDSENST00000318560ENST00000451030ABL1chr9

133589842

+NUP214chr9

134007983

+
intron-intronENST00000318560ENST00000483497ABL1chr9

133589842

+NUP214chr9

134007983

+
intron-intronENST00000318560ENST00000465486ABL1chr9

133589842

+NUP214chr9

134007983

+

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FusionProtFeatures for ABL1_NUP214


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABL1

P00519

NUP214

P35658

Non-receptor tyrosine-protein kinase that plays a rolein many key processes linked to cell growth and survival such ascytoskeleton remodeling in response to extracellular stimuli, cellmotility and adhesion, receptor endocytosis, autophagy, DNA damageresponse and apoptosis. Coordinates actin remodeling throughtyrosine phosphorylation of proteins controlling cytoskeletondynamics like WASF3 (involved in branch formation); ANXA1(involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH(involved in signaling); or MAPT and PXN (microtubule-bindingproteins). Phosphorylation of WASF3 is critical for thestimulation of lamellipodia formation and cell migration. Involvedin the regulation of cell adhesion and motility throughphosphorylation of key regulators of these processes such asBCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiplereceptor tyrosine kinases and more particularly promotesendocytosis of EGFR, facilitates the formation of neuromuscularsynapses through MUSK, inhibits PDGFRB-mediated chemotaxis andmodulates the endocytosis of activated B-cell receptor complexes.Other substrates which are involved in endocytosis regulation arethe caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBLfamily of ubiquitin ligases that drive receptor down-regulationand actin remodeling. Phosphorylation of CBL leads to increasedEGFR stability. Involved in late-stage autophagy by regulatingpositively the trafficking and function of lysosomal components.ABL1 targets to mitochondria in response to oxidative stress andthereby mediates mitochondrial dysfunction and cell death. Inresponse to oxidative stress, phosphorylates serine/threoninekinase PRKD2 at 'Tyr-717' (PubMed:28428613). ABL1 is alsotranslocated in the nucleus where it has DNA-binding activity andis involved in DNA-damage response and apoptosis. Many substratesare known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6,RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathwaywhen the DNA damage is too severe to be repaired. PhosphorylatesTP73, a primary regulator for this type of damage-inducedapoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' andregulates its processing in the apoptotic response to DNA damage.Phosphorylates PSMA7 that leads to an inhibition of proteasomalactivity and cell cycle transition blocks. ABL1 acts also as aregulator of multiple pathological signaling cascades duringinfection. Several known tyrosine-phosphorylated microbialproteins have been identified as ABL1 substrates. This is the caseof A36R of Vaccinia virus, Tir (translocated intimin receptor) ofpathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containingprotein A) of A.phagocytophilum. Pathogens can highjack ABL1kinase signaling to reorganize the host actin cytoskeleton formultiple purposes, like facilitating intracellular movement andhost cell exit. Finally, functions as its own regulator throughautocatalytic activity as well as through phosphorylation of itsinhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner. Phosphorylates TBX21 on tyrosine residuesleading to an enhancement of its transcriptional activatoractivity (By similarity). {ECO:0000250|UniProtKB:P00520,ECO:0000269|PubMed:10391250, ECO:0000269|PubMed:11971963,ECO:0000269|PubMed:12379650, ECO:0000269|PubMed:12531427,ECO:0000269|PubMed:12672821, ECO:0000269|PubMed:15031292,ECO:0000269|PubMed:15556646, ECO:0000269|PubMed:15657060,ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16424036,ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:16943190,ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:17623672,ECO:0000269|PubMed:18328268, ECO:0000269|PubMed:18945674,ECO:0000269|PubMed:19891780, ECO:0000269|PubMed:20357770,ECO:0000269|PubMed:20417104, ECO:0000269|PubMed:28428613,ECO:0000269|PubMed:9037071, ECO:0000269|PubMed:9144171,ECO:0000269|PubMed:9461559}. May serve as a docking site in the receptor-mediatedimport of substrates across the nuclear pore complex.{ECO:0000303|PubMed:8108440}.

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 ABL1_NUP214


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 ABL1_NUP214


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
ABL1ATM, NTRK1, PTPN6, RB1, BRCA1, BCR, ABL1, PIK3R1, RAD51, ABI2, BCAR1, ATR, ABL2, CRKL, CREB1, JAK1, YTHDC1, GPX1, CAT, ABI1, TP53, SHC1, INPPL1, SOS1, SLC9A2, PRKDC, TP73, DOK1, ST5, ZAP70, RFX1, RAD9A, TERF1, HCK, GRB2, VAV1, MDM2, MTOR, ZDHHC16, SPTA1, SPTAN1, ARHGAP17, EVL, PSTPIP1, NEDD9, CABLES2, SORBS2, SH3BP1, CBL, TUB, GRB10, RYBP, PAK2, PAG1, RAN, NCK1, PLCG1, MICAL1, XRCC6, SORBS1, SHD, SHE, EPHB2, EPHA3, SRC, NCOA3, TOPBP1, HSP90AA1, HSPA4, NFKBIA, PARK2, STK4, NEDD4, BAG1, HSPA8, NEDD4L, PCNA, ANKRA2, YWHAQ, PSMA7, PSMA4, PSMD4, SH3KBP1, FGFR1OP, WRNIP1, JUN, GAB3, HUWE1, MDM4, DDB1, LRRK1, PIK3R2, AP2M1, UBASH3B, EPS15, CRK, AP2B1, BMP2K, REPS1, STON2, CBLB, AP2A1, WASF1, MAPT, PFDN4, PDE4D, PRDX1, EGFR, ERBB2, ERBB3, ERBB4, SOCS3, SOCS1, MUC1, YWHAB, YWHAE, YWHAG, YWHAH, YWHAZ, SFN, XPO1, RASA1, DOK2, CDKN1B, PTGES3, HSPD1, UBC, CTNNB1, SRPK2, PARP1, USP7, LATS2, SPRR2A, CASP9, YAP1, FOS, CDK1, GTF2F1, CCND2, ACTA1, STUB1, CDON, MBP, SPAG9, MSH5, MAVS, RAPGEF1, PRKCZ, BCL2L1, CKAP4, DDX5, DRG1, EEF1G, EIF2A, EWSR1, FUS, HNRNPM, HSPE1, ILF3, LRRC59, RPL37, RPLP1, RPS21, SUB1, SHB, RTFDC1, LARS, NAA25, NARS, PAK4, PPM1B, GRAP2, HIPK2, CDKN1A, RPS6KB1, RIN1, EMD, TMPO, TRIM25, ANAPC15, DVL2, PLEKHA4NUP214ZFP36, XPO1, NUP107, NXF2, NXF1, XPO5, IPO5, G3BP1, G3BP2, RAE1, APC, HDAC4, HDAC5, HDAC9, NUP88, SMAD1, CLEC4G, SMAD2, SMAD3, SMAD4, SIRT7, RANBP2, CUL3, CUL2, NUPL2, NUP214, ACOT13, PNPT1, HSPA1L, VPS4B, S100A6, EEF1A1, STRIP1, RPL19, NDUFA7, ITGA4, SOX2, LMNA, FBXO6, CUL7, OBSL1, NUP62, CLEC11A, DDX19A, KCMF1, CFL1, CSRP1, DYNC1LI1, TRIM28, TXNDC9, NTRK1, IFI16, NUP85, NUP35, KPNB1, UBE2I, NUPL1, NUP153, SEH1L, C11orf30, CDH1, RAN, FXR2, EMILIN1, SERPINB2, BRCA1


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 ABL1_NUP214


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneABL1P00519DB00619ImatinibTyrosine-protein kinase ABL1small moleculeapproved
HgeneABL1P00519DB06616BosutinibTyrosine-protein kinase ABL1small moleculeapproved
HgeneABL1P00519DB08896RegorafenibTyrosine-protein kinase ABL1small moleculeapproved
HgeneABL1P00519DB01254DasatinibTyrosine-protein kinase ABL1small moleculeapproved|investigational
HgeneABL1P00519DB04868NilotinibTyrosine-protein kinase ABL1small moleculeapproved|investigational
HgeneABL1P00519DB08901PonatinibTyrosine-protein kinase ABL1small moleculeapproved|investigational

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RelatedDiseases for ABL1_NUP214


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABL1C0023473Myeloid Leukemia, Chronic3CTD_human;ORPHANET
HgeneABL1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
HgeneABL1C0001418Adenocarcinoma1CTD_human
HgeneABL1C0014859Esophageal Neoplasms1CTD_human
HgeneABL1C0023903Liver neoplasms1CTD_human
HgeneABL1C0027659Neoplasms, Experimental1CTD_human
HgeneABL1C0032927Precancerous Conditions1CTD_human
HgeneABL1C0596263Carcinogenesis1CTD_human
HgeneABL1C1458155Mammary Neoplasms1CTD_human