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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: 16961

FusionGeneSummary for HUWE1_GUF1

check button Fusion gene summary
Fusion gene informationFusion gene name: HUWE1_GUF1
Fusion gene ID: 16961
HgeneTgene
Gene symbol

HUWE1

GUF1

Gene ID

10075

60558

Gene nameHECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseGUF1 homolog, GTPase
SynonymsARF-BP1|HECTH9|HSPC272|Ib772|LASU1|MULE|URE-B1|UREB1EF-4|EF4|EIEE40
Cytomap

Xp11.22

4p12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase HUWE1ARF-binding protein 1BJ-HCC-24 tumor antigenHECT domain protein LASU1HECT-type E3 ubiquitin transferase HUWE1Mcl-1 ubiquitin ligase E3URE-binding protein 1homologous to E6AP carboxyl terminus homologous protein 9latranslation factor GUF1, mitochondrialGTP-binding protein GUF1 homologGTPase of unknown function 1elongation factor 4 homologribosomal back-translocase
Modification date2018052320180522
UniProtAcc

Q7Z6Z7

Q8N442

Ensembl transtripts involved in fusion geneENST00000342160, ENST00000262854, 
ENST00000474288, ENST00000218328, 
ENST00000506793, ENST00000281543, 
Fusion gene scores* DoF score11 X 12 X 5=6601 X 1 X 1=1
# samples 131
** MAII scorelog2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: HUWE1 [Title/Abstract] AND GUF1 [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
HgeneHUWE1

GO:0000209

protein polyubiquitination

15989957

HgeneHUWE1

GO:0006513

protein monoubiquitination

19713937

HgeneHUWE1

GO:0016574

histone ubiquitination

15767685


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
TCGARVHNSCTCGA-CN-6024-01AHUWE1chrX

53707002

-GUF1chr4

44682711

+
* 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-3UTRENST00000342160ENST00000506793HUWE1chrX

53707002

-GUF1chr4

44682711

+
5UTR-3UTRENST00000342160ENST00000281543HUWE1chrX

53707002

-GUF1chr4

44682711

+
5UTR-3UTRENST00000262854ENST00000506793HUWE1chrX

53707002

-GUF1chr4

44682711

+
5UTR-3UTRENST00000262854ENST00000281543HUWE1chrX

53707002

-GUF1chr4

44682711

+
intron-3UTRENST00000474288ENST00000506793HUWE1chrX

53707002

-GUF1chr4

44682711

+
intron-3UTRENST00000474288ENST00000281543HUWE1chrX

53707002

-GUF1chr4

44682711

+
5UTR-3UTRENST00000218328ENST00000506793HUWE1chrX

53707002

-GUF1chr4

44682711

+
5UTR-3UTRENST00000218328ENST00000281543HUWE1chrX

53707002

-GUF1chr4

44682711

+

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FusionProtFeatures for HUWE1_GUF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HUWE1

Q7Z6Z7

GUF1

Q8N442

Promotes mitochondrial protein synthesis. May act as afidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocatedribosomes. Binds to mitochondrial ribosomes in a GTP-dependentmanner. {ECO:0000255|HAMAP-Rule:MF_03137}.

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 HUWE1_GUF1


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 HUWE1_GUF1


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
HUWE1MCL1, CDC6, USP49, USP50, USP7, VCPIP1, UBL4A, SLX1B, ATM, MYC, NR1D1, CDK5RAP3, HUWE1, USP9X, PMAIP1, CDKN2A, TP53, POLB, FAF2, UBXN1, PIAS2, CALM1, USP4, PCNA, RAD23A, SIRT7, HDAC2, HIST3H2BB, RASSF1, MFN2, HSPA4, CUL3, ABL1, UBE2L3, UBE2D1, UBE2G1, UBE2D2, UBE2D3, PRPF8, MACF1, SNRNP200, LIMCH1, TBL1X, RANGAP1, LSM4, FAP, UBC, VCP, NOS2, METTL21B, HDAC11, CLK2, MOK, FBXO6, CD2AP, FAM175B, BRCC3, SPAG9, TXNDC9, LARP7, RABEP2, BRCA1, MUTYH, DVL3, DVL1, SHFM1, EGFR, SPRTN, CEP250, SHOC2, MRAS, RAF1, MYH9, DDB1, DDIT4, UBB, SNRPD3, RPL15, RPS9, EPRS, PSMA6, ACACB, RPS3, SRSF2, RPS15A, PSMA7, CLTC, RPL13A, MDH2, COPB2, XPO1, AK2, CKB, PSMA3, HIST1H2AE, PGK1, PSMA4, HSP90B1, NUDT21, HSP90AB1, PSMD13, BLOC1S5, SF3A3, EEF2, PARP1, MCM2, PSMA1, DDX46, TPI1P1, GANAB, AHCY, RFC5, MCM4, PSMD1, EIF4A3, NACA, C16orf72, PSMB7, CSE1L, RPS24, HSP90AA1, EIF1AY, LDHA, USP15, UCHL5, ACLY, GAPDH, ANP32B, PSMA2, BUB3, CA2, PSMD14, PDIA6, DNAJA1, NCL, YWHAZ, PSMA5, IPO5, ACTN4, CANX, RPS8, PPIA, RPS7, TUFM, PSAT1P1, RPL23, ILF2, UBA1, PSMD11, DBT, SET, PSMD2, HSD17B10, EFTUD2, OAT, ALDOA, ATP5A1, RPS10, ATP5C1, PRDX4, PSMC1, KIF5B, OGT, DLG1, RPL7P32, PCMT1, TARS, PRDX6, HNRNPA2B1, SF3B3, TRIM28, HSPH1, PDHB, PSMC5, PSMD7, PSMC6, PSMD8, CAPNS1, EIF3F, DNAJA3, HNRNPU, SRSF1, DDX1, SRSF5, SLC25A5, PSMC3, HSPD1, RPL27A, SHMT2, MARS, RPL3, C1QBP, SFPQ, RPS4X, ENO1, LDHB, PSMC4, USO1, RPLP0, XRCC5, ERP29, ASNA1, OLA1, EIF4A1, HMGB1, RBBP4, IDH3A, NCKAP1, DLD, PSMD6, CTSD, RPL22, DDX21, RPL10A, ATP1A1, SLC25A6, RPL18, PSMD12, ADRM1, SSR1, NCBP1, HSPB1, NAP1L1, GET4, UFD1L, CS, PSMC2, PC, RPL5, C14orf166, SND1, SUB1, KPNA2, RPL7A, NPM1, ARF1, RPL27, DDOST, EIF3M, YWHAH, TFRC, PKM, PRMT1, PHB2, HADHB, ATP5B, RPL12, GDI2, DPM1, RPRD1B, MCM6, SF3A1, RPL8, EIF5A, ILF3, TUT1, AHSA1, IMPDH2, SSB, HNRNPH1, PCCA, COPG1, GTF2A1, EIF2S1, PDHA1, HIST2H2BE, NDUFS3, CTNNB1, PYGL, RPL13, KPNB1, DNAJC8, MCCC1, PSME1, ANXA5, TUBB4B, QARS, RPS3A, TUBB2A, TUBB, AGR2, MKL2, YWHAG, ACTR1A, MIR548AJ1, SRSF3, RPL4, RPS18, SRP14, C17orf75, PCBP2, RPS25, GPI, MTHFD2, NUDC, EEF1D, GIGYF2, RPS13, ECH1, PCCB, SNRPB, NEK9, PPP1R10, SLC25A3, YWHAE, DNAJB1, UNC45A, FAM91A1, PCBP1, CALR, HNRNPK, ALDH3A2, EIF3I, NASP, SMEK1, RPS23, PRPF19, STAT1, PHGDH, TUBA1C, PPIH, RPS14, PHB, ZBTB33, CAPZA1, RBBP7, KHSRP, STRAP, RPA2, NONO, LUC7L2, GNB2L1, PAICS, PDAP1, MCCC2, PPP1CA, PSMD3, CAPZB, CDK1, HSPA5, EIF3E, SERBP1, EEF1E1, TOX4, RPS19, RPS17, LOC389842, EPB41L3, ATG3, EEF1B2, RANP1, RTN4, WWOX, FASN, SSR4, PSME3, CSDE1, STMN1, RPS16, SNRPA1, RPP30, PAPOLA, MRE11A, MAPRE2, TCP1, CCT2, RPL6, WIPI2, PGAM5, WDR82, CCT5, LSM12, RUVBL2, CCT3, CCT4, CCT6A, EIF5, RUVBL1, CCT8, SAP30BP, CCT7, MYL6B, EIF4E2, PCNP, CRKL, TIPRL, CRK, AP3S2, MYOD1, CCDC8, FBXW11, UNK, NTRK1, GNL1, NUCKS1, U2AF2, MED4, PHAX, KRAS, IFI16, ANKRA2, RFXANK, TENC1, ZBTB17, MED20, CDC20, CPT1A, HTT, MAGEA1, NDUFS5, FURIN, PRSS1, RAD51D, VAMP2, UQCRC2, NCOA4, ELL, RBM10, MAML1, RB1CC1, CSNK2A2, EZH2, AKAP9, DNAJA2, KCTD2, NNT, WDR91, NDUFA13, LRRC16A, NCLN, KIAA1191, SLC25A19, KIF13A, SFXN3, C18orf21, KLF16, UTP23, AHNAK2, CDYL2, LSM14B, TEAD2, FOXB1, CRY1, CRY2, CDC5L, KDM3A, TBP, DPPA4, NANOG, POU5F1, PSMD4, POLL, CUL4B, H2AFX, MYCN, BAG6, KLF4, ATOH1, VHL, SCNN1A, DERL1, PREX2, GNMT, PTP4A3, WBP2, ERG, SOD1, TRIM25, TESGUF1TNF, MRPS7, LAMP2, FAM174A, C5AR2, TMCO3, TSPYL6, IL13RA2


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 HUWE1_GUF1


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 HUWE1_GUF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHUWE1C2678046Mental Retardation, X-Linked, Syndromic, Turner Type1CTD_human;ORPHANET;UNIPROT