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: 42148

FusionGeneSummary for XBP1_UTRN

check button Fusion gene summary
Fusion gene informationFusion gene name: XBP1_UTRN
Fusion gene ID: 42148
HgeneTgene
Gene symbol

XBP1

UTRN

Gene ID

7494

7402

Gene nameX-box binding protein 1utrophin
SynonymsTREB-5|TREB5|XBP-1|XBP2DMDL|DRP|DRP1
Cytomap

22q12.1|22q12

6q24.2

Type of geneprotein-codingprotein-coding
DescriptionX-box-binding protein 1tax-responsive element-binding protein 5utrophinDRP-1dystrophin-related protein 1
Modification date2018052320180519
UniProtAcc

P17861

P46939

Ensembl transtripts involved in fusion geneENST00000216037, ENST00000403532, 
ENST00000405219, ENST00000344347, 
ENST00000367545, ENST00000367526, 
ENST00000480333, 
Fusion gene scores* DoF score7 X 7 X 4=19633 X 9 X 9=2673
# samples 933
** MAII scorelog2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/2673*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: XBP1 [Title/Abstract] AND UTRN [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
HgeneXBP1

GO:0002639

positive regulation of immunoglobulin production

11460154

HgeneXBP1

GO:0008284

positive regulation of cell proliferation

25656649

HgeneXBP1

GO:0030335

positive regulation of cell migration

25656649

HgeneXBP1

GO:0035470

positive regulation of vascular wound healing

25656649

HgeneXBP1

GO:0045579

positive regulation of B cell differentiation

11460154

HgeneXBP1

GO:0045582

positive regulation of T cell differentiation

11460154

HgeneXBP1

GO:0045944

positive regulation of transcription by RNA polymerase II

8657566

HgeneXBP1

GO:0071222

cellular response to lipopolysaccharide

11460154

HgeneXBP1

GO:1900100

positive regulation of plasma cell differentiation

11460154

HgeneXBP1

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

19135031


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
TCGARVLUADTCGA-86-6851-01AXBP1chr22

29190549

-UTRNchr6

144665237

+
* 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
intron-intronENST00000216037ENST00000367545XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000216037ENST00000367526XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000216037ENST00000480333XBP1chr22

29190549

-UTRNchr6

144665237

+
5CDS-intronENST00000403532ENST00000367545XBP1chr22

29190549

-UTRNchr6

144665237

+
5CDS-intronENST00000403532ENST00000367526XBP1chr22

29190549

-UTRNchr6

144665237

+
5CDS-intronENST00000403532ENST00000480333XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000405219ENST00000367545XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000405219ENST00000367526XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000405219ENST00000480333XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000344347ENST00000367545XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000344347ENST00000367526XBP1chr22

29190549

-UTRNchr6

144665237

+
intron-intronENST00000344347ENST00000480333XBP1chr22

29190549

-UTRNchr6

144665237

+

Top

FusionProtFeatures for XBP1_UTRN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XBP1

P17861

UTRN

P46939

Functions as a transcription factor during endoplasmicreticulum (ER) stress by regulating the unfolded protein response(UPR). Required for cardiac myogenesis and hepatogenesis duringembryonic development, and the development of secretory tissuessuch as exocrine pancreas and salivary gland (By similarity).Involved in terminal differentiation of B lymphocytes to plasmacells and production of immunoglobulins (PubMed:11460154).Modulates the cellular response to ER stress in a PIK3R-dependentmanner (PubMed:20348923). Binds to the cis-acting X box present inthe promoter regions of major histocompatibility complex class IIgenes (PubMed:8349596). Involved in VEGF-induced endothelial cell(EC) proliferation and retinal blood vessel formation duringembryonic development but also for angiogenesis in adult tissuesunder ischemic conditions. Functions also as a major regulator ofthe UPR in obesity-induced insulin resistance and type 2 diabetesfor the management of obesity and diabetes prevention (Bysimilarity). {ECO:0000250|UniProtKB:O35426,ECO:0000269|PubMed:11460154, ECO:0000269|PubMed:20348923,ECO:0000269|PubMed:8349596}. Isoform 1: Plays a role in the unconventionalcytoplasmic splicing processing of its own mRNA triggered by theendoplasmic reticulum (ER) transmembrane endoribonuclease ENR1:upon ER stress, the emerging XBP1 polypeptide chain, as part of amRNA-ribosome-nascent chain (R-RNC) complex, cotranslationallyrecruits its own unprocessed mRNA through transient docking to theER membrane and translational pausing, therefore facilitatingefficient IRE1-mediated XBP1 mRNA isoform 2 production(PubMed:19394296, PubMed:21233347). In endothelial cells (EC),associated with KDR, promotes IRE1-mediated XBP1 mRNA isoform 2productions in a vascular endothelial growth factor (VEGF)-dependent manner, leading to EC proliferation and angiogenesis(PubMed:23529610). Functions as a negative feed-back regulator ofthe potent transcription factor XBP1 isoform 2 protein levelsthrough proteasome-mediated degradation, thus preventing theconstitutive activation of the ER stress response signalingpathway (PubMed:16461360, PubMed:25239945). Inhibits thetransactivation activity of XBP1 isoform 2 in myeloma cells (Bysimilarity). Acts as a weak transcriptional factor(PubMed:8657566). Together with HDAC3, contributes to theactivation of NFE2L2-mediated HMOX1 transcription factor geneexpression in a PI(3)K/mTORC2/Akt-dependent signaling pathwayleading to EC survival under disturbed flow/oxidative stress(PubMed:25190803). Binds to the ER stress response element (ERSE)upon ER stress (PubMed:11779464). Binds to the consensus 5'-GATGACGTG[TG]N(3)[AT]T-3' sequence related to cAMP responsiveelement (CRE)-like sequences (PubMed:8657566). Binds the Tax-responsive element (TRE) present in the long terminal repeat (LTR)of T-cell leukemia virus type 1 (HTLV-I) and to the TPA responseelements (TRE) (PubMed:2321018, PubMed:2196176, PubMed:1903538,PubMed:8657566). Associates preferentially to the HDAC3 genepromoter region in a static flow-dependent manner(PubMed:25190803). Binds to the CDH5/VE-cadherin gene promoterregion (PubMed:19416856). {ECO:0000250|UniProtKB:O35426,ECO:0000269|PubMed:11779464, ECO:0000269|PubMed:16461360,ECO:0000269|PubMed:1903538, ECO:0000269|PubMed:19394296,ECO:0000269|PubMed:19416856, ECO:0000269|PubMed:21233347,ECO:0000269|PubMed:2196176, ECO:0000269|PubMed:2321018,ECO:0000269|PubMed:23529610, ECO:0000269|PubMed:25190803,ECO:0000269|PubMed:25239945, ECO:0000269|PubMed:8657566}. Isoform 2: Functions as a stress-inducible potenttranscriptional activator during endoplasmic reticulum (ER) stressby inducing unfolded protein response (UPR) target genes viabinding to the UPR element (UPRE). Up-regulates target genesencoding ER chaperones and ER-associated degradation (ERAD)components to enhance the capacity of productive folding anddegradation mechanism, respectively, in order to maintain thehomeostasis of the ER under ER stress (PubMed:11779464,PubMed:25239945). Plays a role in the production ofimmunoglobulins and interleukin-6 in the presence of stimulirequired for plasma cell differentiation (By similarity). Inducesphospholipid biosynthesis and ER expansion (PubMed:15466483).Contributes to the VEGF-induced endothelial cell (EC) growth andproliferation in a Akt/GSK-dependent and/or -independent signalingpathway, respectively, leading to beta-catenin nucleartranslocation and E2F2 gene expression (PubMed:23529610). Promotesumbilical vein EC apoptosis and atherosclerotisis development in acaspase-dependent signaling pathway, and contributes to VEGF-induced EC proliferation and angiogenesis in adult tissues underischemic conditions (PubMed:19416856, PubMed:23529610). Involvedin the regulation of endostatin-induced autophagy in EC throughBECN1 transcriptional activation (PubMed:23184933). Plays a roleas an oncogene by promoting tumor progression: stimulates zincfinger protein SNAI1 transcription to induce epithelial-to-mesenchymal (EMT) transition, cell migration and invasion ofbreast cancer cells (PubMed:25280941). Involved in adipocytedifferentiation by regulating lipogenic gene expression duringlactation. Plays a role in the survival of both dopaminergicneurons of the substantia nigra pars compacta (SNpc), bymaintaining protein homeostasis and of myeloma cells. Increasesinsulin sensitivity in the liver as a response to a highcarbohydrate diet, resulting in improved glucose tolerance.Improves also glucose homeostasis in an ER stress- and/or insulin-independent manner through both binding and proteasome-induceddegradation of the transcription factor FOXO1, hence resulting insuppression of gluconeogenic genes expression and in a reductionof blood glucose levels. Controls the induction of de novo fattyacid synthesis in hepatocytes by regulating the expression of asubset of lipogenic genes in an ER stress- and UPR-independentmanner (By similarity). Associates preferentially to the HDAC3gene promoter region in a disturbed flow-dependent manner(PubMed:25190803). Binds to the BECN1 gene promoter region(PubMed:23184933). Binds to the CDH5/VE-cadherin gene promoterregion (PubMed:19416856). Binds to the ER stress response element(ERSE) upon ER stress (PubMed:11779464). Binds to the 5'-CCACG-3'motif in the PPARG promoter (By similarity).{ECO:0000250|UniProtKB:O35426, ECO:0000269|PubMed:11779464,ECO:0000269|PubMed:15466483, ECO:0000269|PubMed:19416856,ECO:0000269|PubMed:23184933, ECO:0000269|PubMed:23529610,ECO:0000269|PubMed:25190803, ECO:0000269|PubMed:25239945,ECO:0000269|PubMed:25280941}. May play a role in anchoring the cytoskeleton to theplasma membrane. {ECO:0000250}.

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 XBP1_UTRN


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 XBP1_UTRN


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
XBP1ESR1, FOS, GLI1, H1F0, HDGF, RBL2, SRSF1, SSX4, NR0B2, FUBP3, H1FX, TRIP4, ZNF580, PCBD2, ZNF440, PSMA5, PSMA6, PSMA8, ATF6B, ATF6, XBP1, CREBZF, HM13, DERL1, UBE2I, KAT2B, KAT2A, MCM2, CROCC, CCDC102B, MTNR1BUTRNSNTA1, SNTB2, DAG1, UTRN, DTNA, PGM5, USP21, MARK2, PIK3CG, TERF1, TERF2, MME, DISC1, SIRT7, THOC1, RRP9, THOC2, THOC6, THOC5, UBE2D1, ZC3H15, XPO4, THOC3, UBE3C, PTPN12, NPM1, ADRA1D, LATS2, SAV1, OBSL1, CCDC8, L3HYPDH, IER2, USP7, CALM1, PTEN, MED4, TMEM17, PDK3, PI4KB, TTK, RBM8A, MCM2, ATOH1, CDH1, TENC1, TNS1, TNS3, SNTG2, NDEL1, DMD, CPNE5, FAM167A, RHPN1, PTRF, VHL, CPNE4, TTC30B, FAM189B, PHF19, TES


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 XBP1_UTRN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneUTRNP46939DB01593ZincUtrophinsmall moleculeapproved|investigational

Top

RelatedDiseases for XBP1_UTRN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneXBP1C0036341Schizophrenia3PSYGENET
HgeneXBP1C0005586Bipolar Disorder2PSYGENET
HgeneXBP1C0015695Fatty Liver1CTD_human
HgeneXBP1C0017638Glioma1CTD_human
HgeneXBP1C0021655Insulin Resistance1CTD_human
HgeneXBP1C0271650Impaired glucose tolerance1CTD_human
HgeneXBP1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneXBP1C0853193Bipolar I disorder1PSYGENET