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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: 1009

FusionGeneSummary for AFF1_UBE2D3

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF1_UBE2D3
Fusion gene ID: 1009
HgeneTgene
Gene symbol

AFF1

UBE2D3

Gene ID

4299

7323

Gene nameAF4/FMR2 family member 1ubiquitin conjugating enzyme E2 D3
SynonymsAF4|MLLT2|PBM1E2(17)KB3|UBC4/5|UBCH5C
Cytomap

4q21.3-q22.1

4q24

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 AF4ubiquitin-conjugating enzyme E2 D3(E3-independent) E2 ubiquitin-conjugating enzyme D3E2 ubiquitin-conjugating enzyme D3ubiquitin carrier protein D3ubiquitin conjugating enzyme E2D 3ubiquitin-conjugating enzyme E2(17)KB 3ubiquitin-conjugating enzyme
Modification date2018052320180523
UniProtAcc

P51825

P61077

Ensembl transtripts involved in fusion geneENST00000395146, ENST00000307808, 
ENST00000544085, ENST00000511996, 
ENST00000453744, ENST00000394801, 
ENST00000394803, ENST00000394804, 
ENST00000343106, ENST00000321805, 
ENST00000350435, ENST00000338145, 
ENST00000349311, ENST00000504211, 
ENST00000357194, ENST00000505207, 
ENST00000507845, ENST00000502404, 
ENST00000513098, 
Fusion gene scores* DoF score16 X 29 X 8=37123 X 3 X 2=18
# samples 404
** MAII scorelog2(40/3712*10)=-3.21412480535285
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AFF1 [Title/Abstract] AND UBE2D3 [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
TgeneUBE2D3

GO:0000209

protein polyubiquitination

14765125|16522193

TgeneUBE2D3

GO:0006513

protein monoubiquitination

20347421

TgeneUBE2D3

GO:0016567

protein ubiquitination

9990509|21532592

TgeneUBE2D3

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

20347421

TgeneUBE2D3

GO:0051865

protein autoubiquitination

21068390

TgeneUBE2D3

GO:0070936

protein K48-linked ubiquitination

20061386

TgeneUBE2D3

GO:0070979

protein K11-linked ubiquitination

20061386


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
ChiTaRS3.1AA057480AFF1chr4

87869724

+UBE2D3chr4

103731014

-
ChiTaRS3.1AA100762AFF1chr4

87869724

+UBE2D3chr4

103731014

-
* 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-shiftENST00000395146ENST00000453744AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000394801AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000394803AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000394804AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000343106AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000321805AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000350435AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000338145AFF1chr4

87869724

+UBE2D3chr4

103731014

-
Frame-shiftENST00000395146ENST00000349311AFF1chr4

87869724

+UBE2D3chr4

103731014

-
5CDS-5UTRENST00000395146ENST00000504211AFF1chr4

87869724

+UBE2D3chr4

103731014

-
5CDS-5UTRENST00000395146ENST00000357194AFF1chr4

87869724

+UBE2D3chr4

103731014

-
5CDS-5UTRENST00000395146ENST00000505207AFF1chr4

87869724

+UBE2D3chr4

103731014

-
5CDS-5UTRENST00000395146ENST00000507845AFF1chr4

87869724

+UBE2D3chr4

103731014

-
5CDS-5UTRENST00000395146ENST00000502404AFF1chr4

87869724

+UBE2D3chr4

103731014

-
5CDS-5UTRENST00000395146ENST00000513098AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000453744AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000394801AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000394803AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000394804AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000343106AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000321805AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000350435AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000338145AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000307808ENST00000349311AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000307808ENST00000504211AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000307808ENST00000357194AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000307808ENST00000505207AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000307808ENST00000507845AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000307808ENST00000502404AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000307808ENST00000513098AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000453744AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000394801AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000394803AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000394804AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000343106AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000321805AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000350435AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000338145AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-3CDSENST00000544085ENST00000349311AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000544085ENST00000504211AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000544085ENST00000357194AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000544085ENST00000505207AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000544085ENST00000507845AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000544085ENST00000502404AFF1chr4

87869724

+UBE2D3chr4

103731014

-
intron-5UTRENST00000544085ENST00000513098AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000453744AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000394801AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000394803AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000394804AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000343106AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000321805AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000350435AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000338145AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-3CDSENST00000511996ENST00000349311AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-5UTRENST00000511996ENST00000504211AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-5UTRENST00000511996ENST00000357194AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-5UTRENST00000511996ENST00000505207AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-5UTRENST00000511996ENST00000507845AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-5UTRENST00000511996ENST00000502404AFF1chr4

87869724

+UBE2D3chr4

103731014

-
3UTR-5UTRENST00000511996ENST00000513098AFF1chr4

87869724

+UBE2D3chr4

103731014

-

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FusionProtFeatures for AFF1_UBE2D3


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

P51825

UBE2D3

P61077

Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'-linked polyubiquitination. Cooperateswith the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for thepolyubiquitination of NFKBIA leading to its subsequent proteasomaldegradation. Acts as an initiator E2, priming the phosphorylatedNFKBIA target at positions 'Lys-21' and/or 'Lys-22' with amonoubiquitin. Ubiquitin chain elongation is then performed byCDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. Acts also as an initiator E2, in conjunctionwith RNF8, for the priming of PCNA. Monoubiquitination of PCNA,and its subsequent polyubiquitination, are essential events in theoperation of the DNA damage tolerance (DDT) pathway that isactivated after DNA damage caused by UV or chemical agents duringS-phase. Associates with the BRCA1/BARD1 E3 ligase complex toperform ubiquitination at DNA damage sites following ionizingradiation leading to DNA repair. Targets DAPK3 for ubiquitinationwhich influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus. In conjunction with the MDM2 andTOPORS E3 ligases, functions ubiquitination of p53/TP53. SupportsNRDP1-mediated ubiquitination and degradation of ERBB3 and ofBRUCE which triggers apoptosis. In conjunction with the CBL E3ligase, targets EGFR for polyubiquitination at the plasma membraneas well as during its internalization and transport on endosomes.In conjunction with the STUB1 E3 quality control E3 ligase,ubiquitinates unfolded proteins to catalyze their immediatedestruction. {ECO:0000269|PubMed:10329681,ECO:0000269|PubMed:11743028, ECO:0000269|PubMed:12646252,ECO:0000269|PubMed:15247280, ECO:0000269|PubMed:15280377,ECO:0000269|PubMed:15496420, ECO:0000269|PubMed:16628214,ECO:0000269|PubMed:18284575, ECO:0000269|PubMed:18508924,ECO:0000269|PubMed:18515077, ECO:0000269|PubMed:18948756,ECO:0000269|PubMed:20061386, ECO:0000269|PubMed:20347421,ECO:0000269|PubMed:21532592}.

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 AFF1_UBE2D3


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 AFF1_UBE2D3


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, TRIM25UBE2D3TRIM39, RNF126, DTX3L, NEDD4, UBE3A, MEX3B, DAPK3, RBCK1, DDX58, RNF125, ISG15, STAM2, EPS15, POLM, POLL, HDAC6, UBASH3B, UFM1, AMFR, MUL1, CADPS2, CNOT4, DTX1, UBE4A, RNF103, RNF181, MAP3K1, MIB1, PJA2, RFWD3, RMND5B, RNF11, RNF111, RNF13, RNF130, RNF150, RNF165, RNF167, RNF25, RNF26, RNF43, SIAH1, RNF4, TOPORS, UHRF2, RNF115, ZNRF1, ZNRF2, ZNRF4, XIAP, UBOX5, RNF5, DTX3, RNF14, RNF114, TRIM8, DZIP3, MID1, MKRN3, TRIM27, RNF10, RNF166, RNF185, RNF2, TRIM43, TRAF6, BIRC8, BFAR, RING1, MARCH3, RSPRY1, RLIM, LRSAM1, CHFR, ARIH2, MGRN1, TRIM55, RNF38, TRIM17, TRIM2, TRIM25, TRIM26, TRIM31, TRIM35, TRIM5, BIRC2, BIRC3, STUB1, UBE4B, UBC, BIRC7, BRCA1, DBN1, STAU1, KIAA1107, FOCAD, TUBA1A, MKRN1, RPLP1, XPNPEP1, STK25, PDCD5, BMI1, ELAVL1, NFKBIA, MID2, TRIM10, TRIM11, TRIM50, TRIM7, TRIM37, TRIM38, TRIM45, TRIM32, UBA1, RELA, FBXO25, PCNA, FZR1, SMURF2, MDM2, SMURF1, TRIM28, TRIM23, MYLIP, TRIM33, WSB1, PARK2, PJA1, TRIM54, TRIM63, RFFL, RBX1, RNF146, UBR5, RNF168, RNF8, RNF41, RABGEF1, RNF220, TRIM68, FBXO2, FBXW8, TRAIP, SH3RF1, RNF122, SYVN1, MARCH8, MDM4, MARCH5, HERC2, BARD1, HUWE1, CBL, KAT2B, RNF31, MSL2, NHLRC1, FBXO32, FBXL2, NEDD4L, ITCH, WWP2, TERT, SIAH2, AMBRA1, HERC1, UBTD1, UBE2D3, MSL1, CBLC, UBA6, FBXW11, ARIH1, MARCH7, BTRC, TRIM58, PRPF19, OTUB1, DTX2, HECW2, RCHY1, RNF7, TMEM129, NEDD8, UBE2C, CSNK2A1, AREL1, UBE3C, WWP1, HECW1, FBXL12, UHRF1, USP7, PCGF1, PCGF2, PCGF3, PCGF5, PCGF6, MCM2, NOSIP, F12, HECTD1, TRIM69, PTAR1, CUL4B, RNF216, FBXO7, KDM1B, UBE2S, CDC34, F3, ANAPC11


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 AFF1_UBE2D3


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 AFF1_UBE2D3


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