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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: 13186

FusionGeneSummary for FBXO42_RUNX1

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXO42_RUNX1
Fusion gene ID: 13186
HgeneTgene
Gene symbol

FBXO42

RUNX1

Gene ID

54455

861

Gene nameF-box protein 42runt related transcription factor 1
SynonymsFbx42|JFKAML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha
Cytomap

1p36.13

21q22.12

Type of geneprotein-codingprotein-coding
DescriptionF-box only protein 42just one F-box and Kelch domain-containing proteinrunt-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 2
Modification date2018051920180527
UniProtAcc

Q6P3S6

Q01196

Ensembl transtripts involved in fusion geneENST00000375592, ENST00000478089, 
ENST00000344691, ENST00000325074, 
ENST00000437180, ENST00000300305, 
ENST00000399240, ENST00000486278, 
ENST00000494829, ENST00000358356, 
Fusion gene scores* DoF score8 X 8 X 8=51217 X 29 X 7=3451
# samples 1233
** MAII scorelog2(12/512*10)=-2.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/3451*10)=-3.3864765441897
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXO42 [Title/Abstract] AND RUNX1 [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
TgeneRUNX1

GO:0030097

hemopoiesis

21873977

TgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

TgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977


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
TCGARVBRCATCGA-AC-A2FO-01AFBXO42chr1

16678750

-RUNX1chr21

36171759

-
* 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
5UTR-3CDSENST00000375592ENST00000344691FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-3CDSENST00000375592ENST00000325074FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-3CDSENST00000375592ENST00000437180FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-3CDSENST00000375592ENST00000300305FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-3CDSENST00000375592ENST00000399240FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-intronENST00000375592ENST00000486278FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-intronENST00000375592ENST00000494829FBXO42chr1

16678750

-RUNX1chr21

36171759

-
5UTR-intronENST00000375592ENST00000358356FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-3CDSENST00000478089ENST00000344691FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-3CDSENST00000478089ENST00000325074FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-3CDSENST00000478089ENST00000437180FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-3CDSENST00000478089ENST00000300305FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-3CDSENST00000478089ENST00000399240FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-intronENST00000478089ENST00000486278FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-intronENST00000478089ENST00000494829FBXO42chr1

16678750

-RUNX1chr21

36171759

-
intron-intronENST00000478089ENST00000358356FBXO42chr1

16678750

-RUNX1chr21

36171759

-

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FusionProtFeatures for FBXO42_RUNX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXO42

Q6P3S6

RUNX1

Q01196

Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specificallyrecognizes p53/TP53, promoting its ubiquitination and degradation.{ECO:0000269|PubMed:19509332}.

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 FBXO42_RUNX1


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 FBXO42_RUNX1


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
FBXO42TP53, CUL1, SKP1, RBX1, COPS6, SMURF1, RBPJ, GSK3A, ROCK2, RAB28, CCDC6, CST1, KLK6RUNX1SUV39H1, KAT6B, CBFB, AES, PAX5, YAP1, JUN, FOS, SMAD3, SMAD1, SMAD2, SMAD5, VDR, ELF4, ELF2, CEBPB, TLE1, CBFA2T2, TRAF6, FHL2, MYOD1, HIPK2, EP300, HDAC1, HDAC3, KAT6A, TCF12, TCF3, RUNX1T1, NCOR1, SIAH1, UBE2L6, RUNX1, PML, RARA, HDAC2, SIN3A, NR4A2, TRIM33, STUB1, SMARCA4, SMARCB1, SMARCC1, CDK1, TAL1, COPRS, KMT2A, RBM14, SPEN, DNMT1, ELAVL1, CBFA2T3, PRMT1, HLA-DMA, CREBBP, UXT, CTBP2, NOTCH1, MYC, NCOR2, FOXP3, SOX2, CTBP1, HDAC11, RAG1, SPI1, ELF1, CDK6, KLF6, NFATC1, NFATC2, ZNF131, BRCA1, CDK9, FANCD2


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 FBXO42_RUNX1


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 FBXO42_RUNX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRUNX1C0023467Leukemia, Myelocytic, Acute2CTD_human;HPO
TgeneRUNX1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
TgeneRUNX1C0003873Rheumatoid Arthritis1CTD_human
TgeneRUNX1C0017636Glioblastoma1CTD_human
TgeneRUNX1C0033578Prostatic Neoplasms1CTD_human
TgeneRUNX1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneRUNX1C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1CTD_human;ORPHANET;UNIPROT
TgeneRUNX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human