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: 1007

FusionGeneSummary for AFF1_RBFOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF1_RBFOX1
Fusion gene ID: 1007
HgeneTgene
Gene symbol

AFF1

RBFOX1

Gene ID

4299

54715

Gene nameAF4/FMR2 family member 1RNA binding fox-1 homolog 1
SynonymsAF4|MLLT2|PBM12BP1|A2BP1|FOX-1|FOX1|HRNBP1
Cytomap

4q21.3-q22.1

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionAF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4RNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar
Modification date2018052320180523
UniProtAcc

P51825

Q9NWB1

Ensembl transtripts involved in fusion geneENST00000395146, ENST00000307808, 
ENST00000544085, ENST00000511996, 
ENST00000550418, ENST00000553186, 
ENST00000547372, ENST00000422070, 
ENST00000535565, ENST00000547427, 
ENST00000552089, ENST00000547338, 
ENST00000436368, ENST00000311745, 
ENST00000355637, ENST00000340209, 
Fusion gene scores* DoF score16 X 29 X 8=371214 X 12 X 6=1008
# samples 4014
** MAII scorelog2(40/3712*10)=-3.21412480535285
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1008*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFF1 [Title/Abstract] AND RBFOX1 [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

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
TCGALDPRADTCGA-KC-A4BV-01AAFF1chr4

87968746

+RBFOX1chr16

7102058

+
* 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
5CDS-5UTRENST00000395146ENST00000550418AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000395146ENST00000553186AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000395146ENST00000547372AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000395146ENST00000422070AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000395146ENST00000535565AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-3UTRENST00000395146ENST00000547427AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-3UTRENST00000395146ENST00000552089AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000395146ENST00000547338AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000395146ENST00000436368AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000395146ENST00000311745AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000395146ENST00000355637AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000395146ENST00000340209AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000307808ENST00000550418AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000307808ENST00000553186AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000307808ENST00000547372AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000307808ENST00000422070AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000307808ENST00000535565AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-3UTRENST00000307808ENST00000547427AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-3UTRENST00000307808ENST00000552089AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-5UTRENST00000307808ENST00000547338AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000307808ENST00000436368AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000307808ENST00000311745AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000307808ENST00000355637AFF1chr4

87968746

+RBFOX1chr16

7102058

+
5CDS-intronENST00000307808ENST00000340209AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000544085ENST00000550418AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000544085ENST00000553186AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000544085ENST00000547372AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000544085ENST00000422070AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000544085ENST00000535565AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-3UTRENST00000544085ENST00000547427AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-3UTRENST00000544085ENST00000552089AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000544085ENST00000547338AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000544085ENST00000436368AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000544085ENST00000311745AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000544085ENST00000355637AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000544085ENST00000340209AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000511996ENST00000550418AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000511996ENST00000553186AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000511996ENST00000547372AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000511996ENST00000422070AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000511996ENST00000535565AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-3UTRENST00000511996ENST00000547427AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-3UTRENST00000511996ENST00000552089AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-5UTRENST00000511996ENST00000547338AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000511996ENST00000436368AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000511996ENST00000311745AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000511996ENST00000355637AFF1chr4

87968746

+RBFOX1chr16

7102058

+
intron-intronENST00000511996ENST00000340209AFF1chr4

87968746

+RBFOX1chr16

7102058

+

Top

FusionProtFeatures for AFF1_RBFOX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFF1

P51825

RBFOX1

Q9NWB1

RNA-binding protein that regulates alternative splicingevents by binding to 5'-UGCAUGU-3' elements. Regulates alternativesplicing of tissue-specific exons and of differentially splicedexons during erythropoiesis. {ECO:0000269|PubMed:16537540}.

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


Top

FusionGeneSequence for AFF1_RBFOX1


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).

Top

FusionGenePPI for AFF1_RBFOX1


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
AFF1MLLT1, CCNT1, NT5E, MLLT3, CDK9, AFF4, KMT2A, AFF1, BRD4, RELA, NPM1, PCSK1, MLLT10, DOT1L, POLR2A, DDX6, HEXIM1, HIST3H3, NSD1, CARM1, SIAH1, SIAH2, SMAD9, MED26, EAF1, ELL2, LARP7, ELL3, HDAC1, MYH7, SLC16A6, ZNF526, VDR, PIP4K2A, CAMKV, TRIM25RBFOX1PSMF1, DMRTB1, DVL2, HNRNPF, KIFAP3, LZTS2, NUMBL, RHOXF2, ATN1, ATXN1, ATXN2, PRRC2A, NOC2L, GCA, HSFX1, MAGED1, PCBP4, QKI, RBM24, RBFOX2, TNIP1, CELF3, RBFOX1, ALG13, BHLHE40, CRX, DAB1, DAZAP2, FAM168A, HSFY1, PRR20A, C1orf94, RBPMS, SNRPN, KLC1, TSNAX, PLK4, PHF12, GATAD1, RNF25, MKRN1, PRMT5, COPRS, SDR9C7, CAPNS2, RIOK1, IMPA2, CTSV, ECM1, SERPINA12, BBS2, G3BP1


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 AFF1_RBFOX1


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

Top

RelatedDiseases for AFF1_RBFOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRBFOX1C0004352Autistic Disorder2CTD_human
TgeneRBFOX1C0036572Seizures1CTD_human