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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: 3765

FusionGeneSummary for BAALC_UBR5

check button Fusion gene summary
Fusion gene informationFusion gene name: BAALC_UBR5
Fusion gene ID: 3765
HgeneTgene
Gene symbol

BAALC

UBR5

Gene ID

79870

51366

Gene nameBAALC, MAP3K1 and KLF4 bindingubiquitin protein ligase E3 component n-recognin 5
Synonyms-DD5|EDD|EDD1|HYD
Cytomap

8q22.3

8q22.3

Type of geneprotein-codingprotein-coding
Descriptionbrain and acute leukemia cytoplasmic proteinBAALC, MEKK1 and KLF4 bindingbrain and acute leukemia, cytoplasmicE3 ubiquitin-protein ligase UBR5E3 identified by differential displayE3 ubiquitin-protein ligase, HECT domain-containing 1HECT-type E3 ubiquitin transferase UBR5hyperplastic discs protein homologprogestin-induced protein
Modification date2018051920180523
UniProtAcc

Q8WXS3

O95071

Ensembl transtripts involved in fusion geneENST00000309982, ENST00000438105, 
ENST00000297574, ENST00000330955, 
ENST00000306391, ENST00000523754, 
ENST00000520539, ENST00000220959, 
ENST00000518205, ENST00000521922, 
ENST00000519528, 
Fusion gene scores* DoF score3 X 2 X 3=188 X 13 X 6=624
# samples 314
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/624*10)=-2.15611920191728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAALC [Title/Abstract] AND UBR5 [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
TgeneUBR5

GO:0000209

protein polyubiquitination

21118991|28689657

TgeneUBR5

GO:0006974

cellular response to DNA damage stimulus

12011095

TgeneUBR5

GO:0010628

positive regulation of gene expression

18076571

TgeneUBR5

GO:0050847

progesterone receptor signaling pathway

12011095

TgeneUBR5

GO:0070936

protein K48-linked ubiquitination

28689657


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
TCGARVSKCMTCGA-FR-A2OS-01ABAALCchr8

104153285

+UBR5chr8

103285000

-
* 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-shiftENST00000309982ENST00000520539BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000309982ENST00000220959BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000309982ENST00000518205BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000309982ENST00000521922BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-intronENST00000309982ENST00000519528BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000438105ENST00000520539BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000438105ENST00000220959BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000438105ENST00000518205BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000438105ENST00000521922BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-intronENST00000438105ENST00000519528BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000297574ENST00000520539BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000297574ENST00000220959BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000297574ENST00000518205BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000297574ENST00000521922BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-intronENST00000297574ENST00000519528BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000330955ENST00000520539BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000330955ENST00000220959BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000330955ENST00000518205BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000330955ENST00000521922BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-intronENST00000330955ENST00000519528BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000306391ENST00000520539BAALCchr8

104153285

+UBR5chr8

103285000

-
Frame-shiftENST00000306391ENST00000220959BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000306391ENST00000518205BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-5UTRENST00000306391ENST00000521922BAALCchr8

104153285

+UBR5chr8

103285000

-
5CDS-intronENST00000306391ENST00000519528BAALCchr8

104153285

+UBR5chr8

103285000

-
intron-3CDSENST00000523754ENST00000520539BAALCchr8

104153285

+UBR5chr8

103285000

-
intron-3CDSENST00000523754ENST00000220959BAALCchr8

104153285

+UBR5chr8

103285000

-
intron-5UTRENST00000523754ENST00000518205BAALCchr8

104153285

+UBR5chr8

103285000

-
intron-5UTRENST00000523754ENST00000521922BAALCchr8

104153285

+UBR5chr8

103285000

-
intron-intronENST00000523754ENST00000519528BAALCchr8

104153285

+UBR5chr8

103285000

-

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FusionProtFeatures for BAALC_UBR5


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

Q8WXS3

UBR5

O95071

May play a synaptic role at the postsynaptic lipid raftspossibly through interaction with CAMK2A.{ECO:0000250|UniProtKB:Q920K5}. E3 ubiquitin-protein ligase which is a component of theN-end rule pathway. Recognizes and binds to proteins bearingspecific N-terminal residues that are destabilizing according tothe N-end rule, leading to their ubiquitination and subsequentdegradation (By similarity). Involved in maturation and/ortranscriptional regulation of mRNA by activating CDK9 bypolyubiquitination. May play a role in control of cell cycleprogression. May have tumor suppressor function. Regulates DNAtopoisomerase II binding protein (TopBP1) in the DNA damageresponse. Plays an essential role in extraembryonic development.Ubiquitinates acetylated PCK1. Also acts as a regulator of DNAdamage response by acting as a suppressor of RNF168, an E3ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting asa guard against excessive spreading of ubiquitinated chromatin atdamaged chromosomes. {ECO:0000250, ECO:0000269|PubMed:21127351,ECO:0000269|PubMed:21726808, ECO:0000269|PubMed:22884692}.

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 BAALC_UBR5


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 BAALC_UBR5


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
BAALCMDFI, ATXN1, CHEK2, MAP3K1, KLF4, ATP1B3, RNF2, CHD1L, CINP, OSBPL1A, AP1G1UBR5MCRS1, MAGED1, MAPK1, MAPK3, TOPBP1, KPNA1, PGR, CIB1, RECQL5, USP49, WDR48, TCEA1, GTF2E2, PMS2, PMS1, PAIP2, CEBPD, SATB1, TP53, SNW1, NCOA2, UBXN7, FAF2, UBXN1, DYRK2, DDB1, VPRBP, KATNA1, BUB1, GSK3B, CDK9, PCK1, VHL, ARRB2, SIRT7, TNRC6A, TXN2, PAIP1, GSPT1, GSPT2, TOB1, TOB2, IGBP1, UBC, CALM1, PABPC1, CUL3, UBR5, CHEK2, UBE2D2, UBE2D3, UTP15, WDR43, UBE2D1, MRPS18B, ATP6V1F, BARD1, VCP, TERT, RNF168, SMAD2, BIRC2, SOX2, HDAC11, ANKRD28, NR1I2, UBE2A, UBE2B, UBE2L3, SHFM1, SPRTN, AURKB, CDKN1A, CEP250, TUBG1, TUBGCP3, ATMIN, CCDC8, SIRT6, MRPL4, CALR3, MRS2, C1QBP, BUB3, XPNPEP3, BUB1B, CDC20, FBXW11, ACTR1A, EIF3I, GTF2F2, RANGAP1, SET, SRSF1, TPD52L1, CAD, EEF1A1, PSMC2, UQCRC2, NCOA1, XPO1, JAK3, KIF2A, XRCC3, NES, GEMIN5, DSN1, FOXB1, FOXG1, FOXJ2, NLRP3, CRY2, ZNF207, DPPA4, POU5F1, BAG6, GKN1, ATOH1, MOAP1, DPF3, RING1, RNF2, BMI1, UBAP2L, SUPT16H, SSRP1, SUB1, SUPT5H, NONO, APC, ZNF746, DUSP26, PDGFD, P4HA3, DDX28, F9, LYZL1, PRMT2, PRSS37, STX11, PPAN, HNRNPLL, POGLUT1, ERG, TRIM25, CEP78, CCP110, C2orf40


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 BAALC_UBR5


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 BAALC_UBR5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAALCC0023467Leukemia, Myelocytic, Acute1CTD_human