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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: 32398

FusionGeneSummary for RUNX1_FBXW7

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX1_FBXW7
Fusion gene ID: 32398
HgeneTgene
Gene symbol

RUNX1

FBXW7

Gene ID

861

55294

Gene namerunt related transcription factor 1F-box and WD repeat domain containing 7
SynonymsAML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alphaAGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4
Cytomap

21q22.12

4q31.3

Type of geneprotein-codingprotein-coding
Descriptionrunt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2F-box/WD repeat-containing protein 7F-box and WD repeat domain containing 7, E3 ubiquitin protein ligaseF-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)F-box protein FBW7F-box protein FBX30F-box protein SEL-10archipelagohomolog of
Modification date2018052720180527
UniProtAcc

Q01196

Q969H0

Ensembl transtripts involved in fusion geneENST00000344691, ENST00000325074, 
ENST00000437180, ENST00000300305, 
ENST00000399240, ENST00000486278, 
ENST00000494829, ENST00000358356, 
ENST00000281708, ENST00000603548, 
ENST00000604872, ENST00000296555, 
ENST00000263981, ENST00000393956, 
ENST00000603841, ENST00000604095, 
Fusion gene scores* DoF score23 X 25 X 7=40254 X 5 X 4=80
# samples 534
** MAII scorelog2(53/4025*10)=-2.92492451843878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RUNX1 [Title/Abstract] AND FBXW7 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneRUNX1

GO:0030097

hemopoiesis

21873977

HgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

HgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977

TgeneFBXW7

GO:0016567

protein ubiquitination

12354302|15103331

TgeneFBXW7

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331|17434132

TgeneFBXW7

GO:0031398

positive regulation of protein ubiquitination

12628165

TgeneFBXW7

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

20208556

TgeneFBXW7

GO:0050821

protein stabilization

20208556

TgeneFBXW7

GO:0051443

positive regulation of ubiquitin-protein transferase activity

12628165

TgeneFBXW7

GO:1901800

positive regulation of proteasomal protein catabolic process

23858059

TgeneFBXW7

GO:1903378

positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

23858059

TgeneFBXW7

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

20208556


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
ChiTaRS3.1DQ177302RUNX1chr21

36219767

-FBXW7chr4

153332704

+
* 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
intron-3CDSENST00000344691ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000344691ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000344691ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000344691ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000344691ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000344691ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000344691ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000344691ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000325074ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000325074ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000325074ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000325074ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000325074ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000325074ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000325074ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000325074ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000437180ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000437180ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000437180ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000437180ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000437180ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000437180ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000437180ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000437180ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000300305ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000300305ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000300305ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000300305ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000300305ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000300305ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000300305ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000300305ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000399240ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000399240ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000399240ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000399240ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000399240ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000399240ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000399240ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000399240ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000486278ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000486278ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000486278ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000486278ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000486278ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000486278ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000486278ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000486278ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000494829ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000494829ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000494829ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000494829ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000494829ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000494829ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000494829ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000494829ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000358356ENST00000281708RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000358356ENST00000603548RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-3CDSENST00000358356ENST00000604872RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000358356ENST00000296555RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000358356ENST00000263981RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000358356ENST00000393956RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000358356ENST00000603841RUNX1chr21

36219767

-FBXW7chr4

153332704

+
intron-intronENST00000358356ENST00000604095RUNX1chr21

36219767

-FBXW7chr4

153332704

+

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FusionProtFeatures for RUNX1_FBXW7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RUNX1

Q01196

FBXW7

Q969H0

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediatesthe ubiquitination and subsequent proteasomal degradation oftarget proteins. Recognizes and binds phosphorylatedsites/phosphodegrons within target proteins and thereafter bringthem to the SCF complex for ubiquitination (PubMed:17434132).Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC,NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1,and probably PSEN1 (PubMed:11565034, PubMed:12354302,PubMed:11585921, PubMed:15103331, PubMed:14739463,PubMed:17558397, PubMed:17873522, PubMed:22608923,PubMed:29149593, PubMed:25775507, PubMed:28007894). Acts as anegative regulator of JNK signaling by binding to phosphorylatedJUN and promoting its ubiquitination and subsequent degradation(PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitinationand subsequent degradation of NFE2L1 (By similarity). Involved inbone homeostasis and negative regulation of osteoclastdifferentiation (PubMed:29149593). {ECO:0000250|UniProtKB:Q8VBV4,ECO:0000269|PubMed:11565034, ECO:0000269|PubMed:11585921,ECO:0000269|PubMed:14739463, ECO:0000269|PubMed:15103331,ECO:0000269|PubMed:17434132, ECO:0000269|PubMed:17558397,ECO:0000269|PubMed:17873522, ECO:0000269|PubMed:22608923,ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:28007894,ECO:0000269|PubMed:29149593, ECO:0000305|PubMed:12354302}.

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 RUNX1_FBXW7


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 RUNX1_FBXW7


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


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 RUNX1_FBXW7


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 RUNX1_FBXW7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRUNX1C0023467Leukemia, Myelocytic, Acute2CTD_human;HPO
HgeneRUNX1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
HgeneRUNX1C0003873Rheumatoid Arthritis1CTD_human
HgeneRUNX1C0017636Glioblastoma1CTD_human
HgeneRUNX1C0033578Prostatic Neoplasms1CTD_human
HgeneRUNX1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
HgeneRUNX1C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1CTD_human;ORPHANET;UNIPROT
HgeneRUNX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneFBXW7C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
TgeneFBXW7C0007117Basal cell carcinoma1CTD_human
TgeneFBXW7C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneFBXW7C0014170Endometrial Neoplasms1CTD_human
TgeneFBXW7C0017638Glioma1CTD_human
TgeneFBXW7C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneFBXW7C0919532Genomic Instability1CTD_human
TgeneFBXW7C1458155Mammary Neoplasms1CTD_human