FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12171

FusionGeneSummary for ETV6_ABL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_ABL1
Fusion gene ID: 12171
HgeneTgene
Gene symbol

ETV6

ABL1

Gene ID

2120

25

Gene nameETS variant 6ABL proto-oncogene 1, non-receptor tyrosine kinase
SynonymsTEL|TEL/ABL|THC5ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl
Cytomap

12p13.2

9q34.12

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)tyrosine-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 1
Modification date2018052320180527
UniProtAcc

P41212

P00519

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000318560, 
Fusion gene scores* DoF score23 X 26 X 11=657810 X 38 X 4=1520
# samples 4762
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(62/1520*10)=-1.29373120305671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND ABL1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Kinase involved fusion gene, inframe and retained kinase 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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502

TgeneABL1

GO:0006974

cellular response to DNA damage stimulus

15657060

TgeneABL1

GO:0006975

DNA damage induced protein phosphorylation

18280240

TgeneABL1

GO:0018108

peptidyl-tyrosine phosphorylation

7590236|9144171|10713049|11121037

TgeneABL1

GO:0038083

peptidyl-tyrosine autophosphorylation

10518561

TgeneABL1

GO:0042770

signal transduction in response to DNA damage

9037071|15657060

TgeneABL1

GO:0043065

positive regulation of apoptotic process

9037071

TgeneABL1

GO:0046777

protein autophosphorylation

10713049

TgeneABL1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

15657060

TgeneABL1

GO:0051353

positive regulation of oxidoreductase activity

12893824

TgeneABL1

GO:0051444

negative regulation of ubiquitin-protein transferase activity

20823226

TgeneABL1

GO:0070301

cellular response to hydrogen peroxide

10713049

TgeneABL1

GO:0071901

negative regulation of protein serine/threonine kinase activity

11121037

TgeneABL1

GO:1990051

activation of protein kinase C activity

10713049

TgeneABL1

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
ChiTaRS3.1Z35761ETV6chr12

12006495

+ABL1chr9

133729449

+
* 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
In-frameENST00000396373ENST00000318560ETV6chr12

12006495

+ABL1chr9

133729449

+
intron-3CDSENST00000544715ENST00000318560ETV6chr12

12006495

+ABL1chr9

133729449

+

Top

FusionProtFeatures for ETV6_ABL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETV6

P41212

ABL1

P00519

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. 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}.

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
HgeneETV6chr12:12006495chr9:133729449ENST00000396373+4840_124154453DomainPNT
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011605_609261131Compositional biasNote=Poly-Lys
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011782_1019261131Compositional biasNote=Pro-rich
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011897_903261131Compositional biasNote=Poly-Pro
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011127_217261131DomainSH2
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011242_493261131DomainProtein kinase
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+01161_121261131DomainSH3
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+0111090_1100261131MotifNuclear export signal
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011381_405261131MotifNote=Kinase activation loop
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011709_715261131MotifNuclear localization signal 2
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011762_769261131MotifNuclear localization signal 3
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011248_256261131Nucleotide bindingNote=ATP
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011316_322261131Nucleotide bindingNote=ATP
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011869_968261131RegionDNA-binding
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+011953_1130261131RegionNote=F-actin-binding

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETV6chr12:12006495chr9:133729449ENST00000396373+48339_420154453DNA bindingETS
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+01118_22261131Compositional biasNote=Poly-Ser
TgeneABL1chr12:12006495chr9:133729449ENST00000318560+0111_60261131RegionNote=CAP


Top

FusionGeneSequence for ETV6_ABL1


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.
>In-frame_ETV6_ENST00000396373_chr12_12006495_+_ABL1_ENST00000318560_chr9_133729449_+_1259aa
MSETPAQCSIKQERISTTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRTRSPHSGDVLTELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEEALQRPVASDFEPQGLSEAARWNSKE
NLLAGPSENDPNLFVALTDFVASGDNTLSITKGEKLRVLGTNHNGEWCEAQTKNGQGWVPSNYITPVNSLEKHSWYHGPVSRNAAETLLS
SGINGSFLVRESESSPGQRSISLRYEGRVYHYRINTASDGKLYVSSESRFNTLAELVHHHSTVADGLITTLHTPAPKRNKPTVTGVSPNY
DKWEMERTDITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQLLGVCTREPPFTIITEFMTYGN
LLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGENHLVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLA
YNKFSIKSDVWAFGVLLWEIATTGMSPYPGIDLSQVTELLEKDYRMERPEGCPEKVTELMRACWQWNPSDRPSFAEIHQAFETMFQESSI
SDEVEKELGKQGVRGAVSTLLQAPELPTKTRTSRRAAEHRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLP
KDKKTNLFSALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSPKPSNGAGVPNGALRESGGSGFR
SPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSASCVPHGAKDTEWRSVTLPRDLQSTGRQFDSSTFGGHKSEKPALPRKRAGENRS
DQVTRGTVTPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVAPASGLPHKEEAGKGSALGTPAAAEPVTPTSKAGSGAP
GGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPPPPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPG
EGLKKPVLPATPKPQSAKPSGTPISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPERIASGAITKGVVLDSTEALCLA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ETV6_ENST00000396373_chr12_12006495_+_ABL1_ENST00000318560_chr9_133729449_+_3777nt
ATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTCCTCG
ACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCGCTTGCAGCCAATTTAC
TGGAGCAGGGATGACGTAGCCCAGTGGCTCAAGTGGGCTGAAAATGAGTTTTCTTTAAGGCCAATTGACAGCAACACGTTTGAAATGAAT
GGCAAAGCTCTCCTGCTGCTGACCAAAGAGGACTTTCGCTATCGATCTCCTCATTCAGGTGATGTGCTCTATGAACTCCTTCAGCATATT
CTGAAGCAGAGGAAACCTCGGATTCTTTTTTCACCATTCTTCCACCCTGGAAACTCTATACACACACAGCCGGAGGTCATACTGCATCAG
AACCATGAAGAAGAAGCCCTTCAGCGGCCAGTAGCATCTGACTTTGAGCCTCAGGGTCTGAGTGAAGCCGCTCGTTGGAACTCCAAGGAA
AACCTTCTCGCTGGACCCAGTGAAAATGACCCCAACCTTTTCGTTGCACTGTATGATTTTGTGGCCAGTGGAGATAACACTCTAAGCATA
ACTAAAGGTGAAAAGCTCCGGGTCTTAGGCTATAATCACAATGGGGAATGGTGTGAAGCCCAAACCAAAAATGGCCAAGGCTGGGTCCCA
AGCAACTACATCACGCCAGTCAACAGTCTGGAGAAACACTCCTGGTACCATGGGCCTGTGTCCCGCAATGCCGCTGAGTATCTGCTGAGC
AGCGGGATCAATGGCAGCTTCTTGGTGCGTGAGAGTGAGAGCAGTCCTGGCCAGAGGTCCATCTCGCTGAGATACGAAGGGAGGGTGTAC
CATTACAGGATCAACACTGCTTCTGATGGCAAGCTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCATCATCAT
TCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAACTAC
GACAAGTGGGAGATGGAACGCACGGACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTGGAAG
AAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAG
ATCAAACACCCTAACCTGGTGCAGCTCCTTGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAAC
CTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAG
TACCTGGAGAAGAAAAACTTCATCCACAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTT
GGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGAGAGCCTGGCC
TACAACAAGTTCTCCATCAAGTCCGACGTCTGGGCATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTACCCGGGA
ATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATG
CGAGCATGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAGTATC
TCAGACGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAGACG
AGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCGATCCTCTG
GACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCGGAGGGCGGCCTGAATGAAGATGAGCGCCTTCTCCCC
AAAGACAAAAAGACCAACTTGTTCAGCGCCTTGATCAAGAAGAAGAAGAAGACAGCCCCAACCCCTCCCAAACGCAGCAGCTCCTTCCGG
GAGATGGACGGCCAGCCGGAGCGCAGAGGGGCCGGCGAGGAAGAGGGCCGAGACATCAGCAACGGGGCACTGGCTTTCACCCCCTTGGAC
ACAGCTGACCCAGCCAAGTCCCCAAAGCCCAGCAATGGGGCTGGGGTCCCCAATGGAGCCCTCCGGGAGTCCGGGGGCTCAGGCTTCCGG
TCTCCCCACCTGTGGAAGAAGTCCAGCACGCTGACCAGCAGCCGCCTAGCCACCGGCGAGGAGGAGGGCGGTGGCAGCTCCAGCAAGCGC
TTCCTGCGCTCTTGCTCCGCCTCCTGCGTTCCCCATGGGGCCAAGGACACGGAGTGGAGGTCAGTCACGCTGCCTCGGGACTTGCAGTCC
ACGGGAAGACAGTTTGACTCGTCCACATTTGGAGGGCACAAAAGTGAGAAGCCGGCTCTGCCTCGGAAGAGGGCAGGGGAGAACAGGTCT
GACCAGGTGACCCGAGGCACAGTAACGCCTCCCCCCAGGCTGGTGAAAAAGAATGAGGAAGCTGCTGATGAGGTCTTCAAAGACATCATG
GAGTCCAGCCCGGGCTCCAGCCCGCCCAACCTGACTCCAAAACCCCTCCGGCGGCAGGTCACCGTGGCCCCTGCCTCGGGCCTCCCCCAC
AAGGAAGAAGCTGGAAAGGGCAGTGCCTTAGGGACCCCTGCTGCAGCTGAGCCAGTGACCCCCACCAGCAAAGCAGGCTCAGGTGCACCA
GGGGGCACCAGCAAGGGCCCCGCCGAGGAGTCCAGAGTGAGGAGGCACAAGCACTCCTCTGAGTCGCCAGGGAGGGACAAGGGGAAATTG
TCCAGGCTCAAACCTGCCCCGCCGCCCCCACCAGCAGCCTCTGCAGGGAAGGCTGGAGGAAAGCCCTCGCAGAGCCCGAGCCAGGAGGCG
GCCGGGGAGGCAGTCCTGGGCGCAAAGACAAAAGCCACGAGTCTGGTTGATGCTGTGAACAGTGACGCTGCCAAGCCCAGCCAGCCGGGA
GAGGGCCTCAAAAAGCCCGTGCTCCCGGCCACTCCAAAGCCACAGTCCGCCAAGCCGTCGGGGACCCCCATCAGCCCAGCCCCCGTTCCC
TCCACGTTGCCATCAGCATCCTCGGCCCTGGCAGGGGACCAGCCGTCTTCCACCGCCTTCATCCCTCTCATATCAACCCGAGTGTCTCTT
CGGAAAACCCGCCAGCCTCCAGAGCGGATCGCCAGCGGCGCCATCACCAAGGGCGTGGTCCTGGACAGCACCGAGGCGCTGTGCCTCGCC
ATCTCTAGGAACTCCGAGCAGATGGCCAGCCACAGCGCAGTGCTGGAGGCCGGCAAAAACCTCTACACGTTCTGCGTGAGCTATGTGGAT
TCCATCCAGCAAATGAGGAACAAGTTTGCCTTCCGAGAGGCCATCAACAAACTGGAGAATAATCTCCGGGAGCTTCAGATCTGCCCGGCG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ETV6_ENST00000396373_chr12_12006495_+_ABL1_ENST00000318560_chr9_133729449_+_6043nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTC
CTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCGCTTGCAGCCAAT
TTACTGGAGCAGGGATGACGTAGCCCAGTGGCTCAAGTGGGCTGAAAATGAGTTTTCTTTAAGGCCAATTGACAGCAACACGTTTGAAAT
GAATGGCAAAGCTCTCCTGCTGCTGACCAAAGAGGACTTTCGCTATCGATCTCCTCATTCAGGTGATGTGCTCTATGAACTCCTTCAGCA
TATTCTGAAGCAGAGGAAACCTCGGATTCTTTTTTCACCATTCTTCCACCCTGGAAACTCTATACACACACAGCCGGAGGTCATACTGCA
TCAGAACCATGAAGAAGAAGCCCTTCAGCGGCCAGTAGCATCTGACTTTGAGCCTCAGGGTCTGAGTGAAGCCGCTCGTTGGAACTCCAA
GGAAAACCTTCTCGCTGGACCCAGTGAAAATGACCCCAACCTTTTCGTTGCACTGTATGATTTTGTGGCCAGTGGAGATAACACTCTAAG
CATAACTAAAGGTGAAAAGCTCCGGGTCTTAGGCTATAATCACAATGGGGAATGGTGTGAAGCCCAAACCAAAAATGGCCAAGGCTGGGT
CCCAAGCAACTACATCACGCCAGTCAACAGTCTGGAGAAACACTCCTGGTACCATGGGCCTGTGTCCCGCAATGCCGCTGAGTATCTGCT
GAGCAGCGGGATCAATGGCAGCTTCTTGGTGCGTGAGAGTGAGAGCAGTCCTGGCCAGAGGTCCATCTCGCTGAGATACGAAGGGAGGGT
GTACCATTACAGGATCAACACTGCTTCTGATGGCAAGCTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCATCA
TCATTCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAA
CTACGACAAGTGGGAGATGGAACGCACGGACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTG
GAAGAAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAA
AGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGG
GAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCAT
GGAGTACCTGGAGAAGAAAAACTTCATCCACAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGA
TTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGAGAGCCT
GGCCTACAACAAGTTCTCCATCAAGTCCGACGTCTGGGCATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTACCC
GGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACT
CATGCGAGCATGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAG
TATCTCAGACGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAA
GACGAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCGATCC
TCTGGACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCGGAGGGCGGCCTGAATGAAGATGAGCGCCTTCT
CCCCAAAGACAAAAAGACCAACTTGTTCAGCGCCTTGATCAAGAAGAAGAAGAAGACAGCCCCAACCCCTCCCAAACGCAGCAGCTCCTT
CCGGGAGATGGACGGCCAGCCGGAGCGCAGAGGGGCCGGCGAGGAAGAGGGCCGAGACATCAGCAACGGGGCACTGGCTTTCACCCCCTT
GGACACAGCTGACCCAGCCAAGTCCCCAAAGCCCAGCAATGGGGCTGGGGTCCCCAATGGAGCCCTCCGGGAGTCCGGGGGCTCAGGCTT
CCGGTCTCCCCACCTGTGGAAGAAGTCCAGCACGCTGACCAGCAGCCGCCTAGCCACCGGCGAGGAGGAGGGCGGTGGCAGCTCCAGCAA
GCGCTTCCTGCGCTCTTGCTCCGCCTCCTGCGTTCCCCATGGGGCCAAGGACACGGAGTGGAGGTCAGTCACGCTGCCTCGGGACTTGCA
GTCCACGGGAAGACAGTTTGACTCGTCCACATTTGGAGGGCACAAAAGTGAGAAGCCGGCTCTGCCTCGGAAGAGGGCAGGGGAGAACAG
GTCTGACCAGGTGACCCGAGGCACAGTAACGCCTCCCCCCAGGCTGGTGAAAAAGAATGAGGAAGCTGCTGATGAGGTCTTCAAAGACAT
CATGGAGTCCAGCCCGGGCTCCAGCCCGCCCAACCTGACTCCAAAACCCCTCCGGCGGCAGGTCACCGTGGCCCCTGCCTCGGGCCTCCC
CCACAAGGAAGAAGCTGGAAAGGGCAGTGCCTTAGGGACCCCTGCTGCAGCTGAGCCAGTGACCCCCACCAGCAAAGCAGGCTCAGGTGC
ACCAGGGGGCACCAGCAAGGGCCCCGCCGAGGAGTCCAGAGTGAGGAGGCACAAGCACTCCTCTGAGTCGCCAGGGAGGGACAAGGGGAA
ATTGTCCAGGCTCAAACCTGCCCCGCCGCCCCCACCAGCAGCCTCTGCAGGGAAGGCTGGAGGAAAGCCCTCGCAGAGCCCGAGCCAGGA
GGCGGCCGGGGAGGCAGTCCTGGGCGCAAAGACAAAAGCCACGAGTCTGGTTGATGCTGTGAACAGTGACGCTGCCAAGCCCAGCCAGCC
GGGAGAGGGCCTCAAAAAGCCCGTGCTCCCGGCCACTCCAAAGCCACAGTCCGCCAAGCCGTCGGGGACCCCCATCAGCCCAGCCCCCGT
TCCCTCCACGTTGCCATCAGCATCCTCGGCCCTGGCAGGGGACCAGCCGTCTTCCACCGCCTTCATCCCTCTCATATCAACCCGAGTGTC
TCTTCGGAAAACCCGCCAGCCTCCAGAGCGGATCGCCAGCGGCGCCATCACCAAGGGCGTGGTCCTGGACAGCACCGAGGCGCTGTGCCT
CGCCATCTCTAGGAACTCCGAGCAGATGGCCAGCCACAGCGCAGTGCTGGAGGCCGGCAAAAACCTCTACACGTTCTGCGTGAGCTATGT
GGATTCCATCCAGCAAATGAGGAACAAGTTTGCCTTCCGAGAGGCCATCAACAAACTGGAGAATAATCTCCGGGAGCTTCAGATCTGCCC
GGCGACAGCAGGCAGTGGTCCAGCGGCCACTCAGGACTTCAGCAAGCTCCTCAGTTCGGTGAAGGAAATCAGTGACATAGTGCAGAGGTA
GCAGCAGTCAGGGGTCAGGTGTCAGGCCCGTCGGAGCTGCCTGCAGCACATGCGGGCTCGCCCATACCCGTGACAGTGGCTGACAAGGGA
CTAGTGAGTCAGCACCTTGGCCCAGGAGCTCTGCGCCAGGCAGAGCTGAGGGCCCTGTGGAGTCCAGCTCTACTACCTACGTTTGCACCG
CCTGCCCTCCCGCACCTTCCTCCTCCCCGCTCCGTCTCTGTCCTCGAATTTTATCTGTGGAGTTCCTGCTCCGTGGACTGCAGTCGGCAT
GCCAGGACCCGCCAGCCCCGCTCCCACCTAGTGCCCCAGACTGAGCTCTCCAGGCCAGGTGGGAACGGCTGATGTGGACTGTCTTTTTCA
TTTTTTTCTCTCTGGAGCCCCTCCTCCCCCGGCTGGGCCTCCTTCTTCCACTTCTCCAAGAATGGAAGCCTGAACTGAGGCCTTGTGTGT
CAGGCCCTCTGCCTGCACTCCCTGGCCTTGCCCGTCGTGTGCTGAAGACATGTTTCAAGAACCGCATTTCGGGAAGGGCATGCACGGGCA
TGCACACGGCTGGTCACTCTGCCCTCTGCTGCTGCCCGGGGTGGGGTGCACTCGCCATTTCCTCACGTGCAGGACAGCTCTTGATTTGGG
TGGAAAACAGGGTGCTAAAGCCAACCAGCCTTTGGGTCCTGGGCAGGTGGGAGCTGAAAAGGATCGAGGCATGGGGCATGTCCTTTCCAT
CTGTCCACATCCCCAGAGCCCAGCTCTTGCTCTCTTGTGACGTGCACTGTGAATCCTGGCAAGAAAGCTTGAGTCTCAAGGGTGGCAGGT
CACTGTCACTGCCGACATCCCTCCCCCAGCAGAATGGAGGCAGGGGACAAGGGAGGCAGTGGCTAGTGGGGTGAACAGCTGGTGCCAAAT
AGCCCCAGACTGGGCCCAGGCAGGTCTGCAAGGGCCCAGAGTGAACCGTCCTTTCACACATCTGGGTGCCCTGAAAGGGCCCTTCCCCTC
CCCCACTCCTCTAAGACAAAGTAGATTCTTACAAGGCCCTTTCCTTTGGAACAAGACAGCCTTCACTTTTCTGAGTTCTTGAAGCATTTC
AAAGCCCTGCCTCTGTGTAGCCGCCCTGAGAGAGAATAGAGCTGCCACTGGGCACCTGCGCACAGGTGGGAGGAAAGGGCCTGGCCAGTC
CTGGTCCTGGCTGCACTCTTGAACTGGGCGAATGTCTTATTTAATTACCGTGAGTGACATAGCCTCATGTTCTGTGGGGGTCATCAGGGA
GGGTTAGGAAAACCACAAACGGAGCCCCTGAAAGCCTCACGTATTTCACAGAGCACGCCTGCCATCTTCTCCCCGAGGCTGCCCCAGGCC
GGAGCCCAGATACGGGGGCTGTGACTCTGGGCAGGGACCCGGGGTCTCCTGGACCTTGACAGAGCAGCTAACTCCGAGAGCAGTGGGCAG
GTGGCCGCCCCTGAGGCTTCACGCCGGGAGAAGCCACCTTCCCACCCCTTCATACCGCCTCGTGCCAGCAGCCTCGCACAGGCCCTAGCT
TTACGCTCATCACCTAAACTTGTACTTTATTTTTCTGATAGAAATGGTTTCCTCTGGATCGTTTTATGCGGTTCTTACAGCACATCACCT
CTTTGCCCCCGACGGCTGTGACGCAGCCGGAGGGAGGCACTAGTCACCGACAGCGGCCTTGAAGACAGAGCAAAGCGCCCACCCAGGTCC
CCCGACTGCCTGTCTCCATGAGGTACTGGTCCCTTCCTTTTGTTAACGTGATGTGCCACTATATTTTACACGTATCTCTTGGTATGCATC
TTTTATAGACGCTCTTTTCTAAGTGGCGTGTGCATAGCGTCCTGCCCTGCCCCCTCGGGGGCCTGTGGTGGCTCCCCCTCTGCTTCTCGG
GGTCCAGTGCATTTTGTTTCTGTATATGATTCTCTGTGGTTTTTTTTGAATCCAAATCTGTCCTCTGTAGTATTTTTTAAATAAATCAGT


Top

FusionGenePPI for ETV6_ABL1


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
ETV6KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2ABL1ATM, 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, PLEKHA4


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


Top

RelatedDrugs for ETV6_ABL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneABL1P00519DB00619ImatinibTyrosine-protein kinase ABL1small moleculeapproved
TgeneABL1P00519DB06616BosutinibTyrosine-protein kinase ABL1small moleculeapproved
TgeneABL1P00519DB08896RegorafenibTyrosine-protein kinase ABL1small moleculeapproved
TgeneABL1P00519DB01254DasatinibTyrosine-protein kinase ABL1small moleculeapproved|investigational
TgeneABL1P00519DB04868NilotinibTyrosine-protein kinase ABL1small moleculeapproved|investigational
TgeneABL1P00519DB08901PonatinibTyrosine-protein kinase ABL1small moleculeapproved|investigational

Top

RelatedDiseases for ETV6_ABL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT
TgeneABL1C0023473Myeloid Leukemia, Chronic3CTD_human;ORPHANET
TgeneABL1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
TgeneABL1C0001418Adenocarcinoma1CTD_human
TgeneABL1C0014859Esophageal Neoplasms1CTD_human
TgeneABL1C0023903Liver neoplasms1CTD_human
TgeneABL1C0027659Neoplasms, Experimental1CTD_human
TgeneABL1C0032927Precancerous Conditions1CTD_human
TgeneABL1C0596263Carcinogenesis1CTD_human
TgeneABL1C1458155Mammary Neoplasms1CTD_human