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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: 40638

FusionGeneSummary for UBXN1_BSCL2

check button Fusion gene summary
Fusion gene informationFusion gene name: UBXN1_BSCL2
Fusion gene ID: 40638
HgeneTgene
Gene symbol

UBXN1

BSCL2

Gene ID

51035

26580

Gene nameUBX domain protein 1BSCL2, seipin lipid droplet biogenesis associated
Synonyms2B28|SAKS1|UBXD10GNG3LG|HMN5|PELD|SPG17
Cytomap

11q12.3

11q12.3

Type of geneprotein-codingprotein-coding
DescriptionUBX domain-containing protein 1SAPK substrate protein 1UBA/UBX 33.3 kDa proteinseipinBerardinelli-Seip congenital lipodystrophy 2 (seipin)Bernardinelli-Seip congenital lipodystrophy type 2 protein
Modification date2018052220180525
UniProtAcc

Q04323

Q96G97

Ensembl transtripts involved in fusion geneENST00000294119, ENST00000301935, 
ENST00000533000, ENST00000529640, 
ENST00000524762, 		ENST00000405837, 
ENST00000433053, ENST00000278893, 
ENST00000360796, ENST00000403550, 
ENST00000407022, ENST00000421906, 
ENST00000537604, 
Fusion gene scores* DoF score3 X 2 X 2=129 X 5 X 7=315
# samples 39
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/315*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBXN1 [Title/Abstract] AND BSCL2 [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
HgeneUBXN1

GO:0031397

negative regulation of protein ubiquitination

20351172

HgeneUBXN1

GO:0032435

negative regulation of proteasomal ubiquitin-dependent protein catabolic process

20351172

HgeneUBXN1

GO:1903094

negative regulation of protein K48-linked deubiquitination

21135095

HgeneUBXN1

GO:2000157

negative regulation of ubiquitin-specific protease activity

21135095


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-AO-A129-01AUBXN1chr11

62444990

-BSCL2chr11

62460269

-
* 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
In-frameENST00000294119ENST00000405837UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000294119ENST00000433053UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000294119ENST00000278893UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000294119ENST00000360796UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000294119ENST00000403550UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000294119ENST00000407022UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000294119ENST00000421906UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5CDS-intronENST00000294119ENST00000537604UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000405837UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000433053UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000278893UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000360796UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000403550UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000407022UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000301935ENST00000421906UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5CDS-intronENST00000301935ENST00000537604UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000405837UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000433053UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000278893UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000360796UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000403550UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000407022UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000533000ENST00000421906UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5CDS-intronENST00000533000ENST00000537604UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000405837UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000433053UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000278893UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000360796UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000403550UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000407022UBXN1chr11

62444990

-BSCL2chr11

62460269

-
In-frameENST00000529640ENST00000421906UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5CDS-intronENST00000529640ENST00000537604UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000405837UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000433053UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000278893UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000360796UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000403550UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000407022UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-3CDSENST00000524762ENST00000421906UBXN1chr11

62444990

-BSCL2chr11

62460269

-
5UTR-intronENST00000524762ENST00000537604UBXN1chr11

62444990

-BSCL2chr11

62460269

-

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FusionProtFeatures for UBXN1_BSCL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBXN1

Q04323

BSCL2

Q96G97

Ubiquitin-binding protein that plays a role in themodulation of innate immune response. Blocks both the RIG-I-likereceptors (RLR) and NF-kappa-B pathways. Following viralinfection, UBXN1 is induced and recruited to the RLR componentMAVS. In turn, interferes with MAVS oligomerization, and disruptsthe MAVS/TRAF3/TRAF6 signalosome. This function probably serves asa brake to prevent excessive RLR signaling (PubMed:23545497).Interferes with the TNFalpha-triggered NF-kappa-B pathway byinteracting with cellular inhibitors of apoptosis proteins (cIAPs)and thereby inhibiting their recruitment to TNFR1(PubMed:25681446). Prevents also the activation of NF-kappa-B byassociating with CUL1 and thus inhibiting NF-kappa-B inhibitoralpha/NFKBIA degradation that remains bound to NF-kappa-B(PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer andregulates its activity. Specifically binds 'Lys-6'-linkedpolyubiquitin chains. Interaction with autoubiquitinated BRCA1leads to the inhibition of the E3 ubiquitin-protein ligaseactivity of the BRCA1-BARD1 heterodimer (PubMed:20351172).Component of a complex required to couple deglycosylation andproteasome-mediated degradation of misfolded proteins in theendoplasmic reticulum that are retrotranslocated in the cytosol.{ECO:0000269|PubMed:20351172, ECO:0000269|PubMed:23545497,ECO:0000269|PubMed:25681446, ECO:0000269|PubMed:28152074}. Is a regulator of lipid catabolism essential foradipocyte differentiation. May also be involved in the centralregulation of energy homeostasis (By similarity). Necessary forcorrect lipid storage and lipid droplets maintenance; may play atissue-autonomous role in controlling lipid storage in adipocytesand in preventing ectopic lipid droplet formation in non-adiposetissues. {ECO:0000250, ECO:0000269|PubMed:19278620,ECO:0000269|PubMed:21533227}.

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
HgeneUBXN1chr11:62444990chr11:62460269ENST00000294119-7887_172217313Coiled coilOntology_term=ECO:0000255
HgeneUBXN1chr11:62444990chr11:62460269ENST00000301935-7987_172217298Coiled coilOntology_term=ECO:0000255
HgeneUBXN1chr11:62444990chr11:62460269ENST00000294119-782_42217313DomainUBA
HgeneUBXN1chr11:62444990chr11:62460269ENST00000301935-792_42217298DomainUBA
TgeneBSCL2chr11:62444990chr11:62460269ENST00000278893-310264_398146253Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000360796-311264_398210463Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000403550-311264_398146399Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000407022-311264_398146399Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000421906-311264_398146399Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000433053-412264_398210463Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000278893-310243_263146253TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000360796-311243_263210463TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000403550-311243_263146399TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000407022-311243_263146399TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000421906-311243_263146399TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000433053-412243_263210463TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUBXN1chr11:62444990chr11:62460269ENST00000294119-78211_293217313DomainUBX
HgeneUBXN1chr11:62444990chr11:62460269ENST00000301935-79211_293217298DomainUBX
TgeneBSCL2chr11:62444990chr11:62460269ENST00000278893-3101_26146253Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000278893-31048_242146253Topological domainLumenal
TgeneBSCL2chr11:62444990chr11:62460269ENST00000360796-3111_26210463Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000360796-31148_242210463Topological domainLumenal
TgeneBSCL2chr11:62444990chr11:62460269ENST00000403550-3111_26146399Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000403550-31148_242146399Topological domainLumenal
TgeneBSCL2chr11:62444990chr11:62460269ENST00000407022-3111_26146399Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000407022-31148_242146399Topological domainLumenal
TgeneBSCL2chr11:62444990chr11:62460269ENST00000421906-3111_26146399Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000421906-31148_242146399Topological domainLumenal
TgeneBSCL2chr11:62444990chr11:62460269ENST00000433053-4121_26210463Topological domainCytoplasmic
TgeneBSCL2chr11:62444990chr11:62460269ENST00000433053-41248_242210463Topological domainLumenal
TgeneBSCL2chr11:62444990chr11:62460269ENST00000278893-31027_47146253TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000360796-31127_47210463TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000403550-31127_47146399TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000407022-31127_47146399TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000421906-31127_47146399TransmembraneHelical
TgeneBSCL2chr11:62444990chr11:62460269ENST00000433053-41227_47210463TransmembraneHelical


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FusionGeneSequence for UBXN1_BSCL2


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 UBXN1_BSCL2


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
UBXN1ASF1B, CDK4, USP32, BABAM1, WDR20, VCP, NPLOC4, UFD1L, CUL1, CUL2, CUL3, UBR1, HIF1A, ALPP, VCPIP1, KLHL12, KLHL22, KBTBD7, BTBD2, DDB1, AMFR, UBR2, UBR4, PJA2, BIRC3, RLIM, UBR5, UBE3A, HUWE1, UBE4B, BRCA1, BARD1, UBC, HOMER2, SPRTN, RPA1, UBE2V2, USP9X, SSSCA1, ZFYVE19, UNC45A, UBQLN4, UFC1, VPS4B, KIAA1598, CLNS1A, UNK, TWF1, USP34, TTC1, ZPR1, ATP6V1A, SEC22B, PIPSL, NPTN, RPA3, IGBP1, VTA1, SULT1A1, CSE1L, UBQLN1, TXNDC5, S100A16, AHCYL1, UFM1, DNAJB11, VAMP2, RPA2, UBE2C, UBE2L3, CD81, BASP1, CTPS1, HMGB3, MCTS1, NSFL1C, PAFAH1B1, PROSC, TUBB2A, TUFM, TXNRD1, CAPN2, DENR, HK1, HSPA5, STK26, PLAA, TRNT1, TWF2, YWHAE, MAVS, PLA2G4A, UBE2I, FAM189A2, UBXN1, TRIM39, NXF1, PSMD4, USP47, BTBD9, MARCH7, FAM115A, KCTD10, TNFAIP1, MID2, SHKBP1, BTBD1, PSMC3, ACAT2, PRPF19, SPDL1, TAGLN3, UBE2A, BIRC2, MCM2, BAG6, PPP1R7, PRPS2, PRPSAP2, GET4, PSMA1, UBL4A, FAF1, FAF2, MAGED1, MYO6, PPP1CB, SQSTM1, UBXN7, DSC1, DSG1, GAR1, HDAC8, JUP, TRA, DUSP6, EMILIN1, YAF2, CCDC102B, AARSD1, A1BG, KLHL10, KLRG2, CDK5R1BSCL2TMEM19, SMIM3, USE1, CANX, NSG1, PLEKHF2, SMLR1, TSPAN5, ICAM2, IL20RB, MCOLN3, TSPAN17, GABRE, TMEM25, KIAA2013, HDGFRP3, DNAJC13, POM121, POM121C, SLC35B2, ZDHHC17, SC5D, GPR89A, CD47, SLC39A3, TMPPE, CHPT1, SCAMP2, ATAD1, ERGIC3, GLRA2, GABRA6, GABRG2, ASIC4, UPK1A, HTR3A, EBP, B4GAT1


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
HgeneUBXN1chr11:62444990chr11:62460269ENST00000294119-7843_297217313BRCA1
HgeneUBXN1chr11:62444990chr11:62460269ENST00000301935-7943_297217298BRCA1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for UBXN1_BSCL2


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 UBXN1_BSCL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBXN1C0038356Stomach Neoplasms1CTD_human
TgeneBSCL2C2931276Spastic paraplegia 173CTD_human;ORPHANET;UNIPROT
TgeneBSCL2C1720863Congenital Generalized Lipodystrophy Type 22UNIPROT
TgeneBSCL2C0023787Lipodystrophy1CTD_human;HPO
TgeneBSCL2C0028960Oligospermia1CTD_human
TgeneBSCL2C0034012Delayed Puberty1CTD_human
TgeneBSCL2C0403823Asthenozoospermia1CTD_human
TgeneBSCL2C0525045Mood Disorders1PSYGENET