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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: 19971

FusionGeneSummary for LOXL2_BCAP31

check button Fusion gene summary
Fusion gene informationFusion gene name: LOXL2_BCAP31
Fusion gene ID: 19971
HgeneTgene
Gene symbol

LOXL2

BCAP31

Gene ID

4017

10134

Gene namelysyl oxidase like 2B cell receptor associated protein 31
SynonymsLOR|LOR2|WS9-146C6-AG|BAP31|CDM|DDCH|DXS1357E
Cytomap

8p21.3

Xq28

Type of geneprotein-codingprotein-coding
Descriptionlysyl oxidase homolog 2lysyl oxidase related 2lysyl oxidase-like 2 delta e13lysyl oxidase-like 2 proteinlysyl oxidase-like protein 2lysyl oxidase-related protein 2lysyl oxidase-related protein WS9-14B-cell receptor-associated protein 316C6-AG tumor-associated antigenBCR-associated protein Bap31p28 Bap31
Modification date2018052320180523
UniProtAcc

Q9Y4K0

P51572

Ensembl transtripts involved in fusion geneENST00000389131, ENST00000518472, 
ENST00000441714, ENST00000345046, 
ENST00000458587, ENST00000468947, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 5 X 2=30
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LOXL2 [Title/Abstract] AND BCAP31 [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
HgeneLOXL2

GO:0000122

negative regulation of transcription by RNA polymerase II

25959397

HgeneLOXL2

GO:0001837

epithelial to mesenchymal transition

16096638

HgeneLOXL2

GO:0006464

cellular protein modification process

23319596

HgeneLOXL2

GO:0018057

peptidyl-lysine oxidation

25959397|27735137

HgeneLOXL2

GO:0045892

negative regulation of transcription, DNA-templated

16096638

HgeneLOXL2

GO:0046688

response to copper ion

23319596

TgeneBCAP31

GO:1904154

positive regulation of retrograde protein transport, ER to cytosol

18555783


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
ChiTaRS3.1AW376389LOXL2chr8

23225671

+BCAP31chrX

152966288

-
* 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-3UTRENST00000389131ENST00000441714LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-3UTRENST00000389131ENST00000345046LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-3UTRENST00000389131ENST00000458587LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-intronENST00000389131ENST00000468947LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-3UTRENST00000518472ENST00000441714LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-3UTRENST00000518472ENST00000345046LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-3UTRENST00000518472ENST00000458587LOXL2chr8

23225671

+BCAP31chrX

152966288

-
intron-intronENST00000518472ENST00000468947LOXL2chr8

23225671

+BCAP31chrX

152966288

-

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FusionProtFeatures for LOXL2_BCAP31


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LOXL2

Q9Y4K0

BCAP31

P51572

Mediates the post-translational oxidative deamination oflysine residues on target proteins leading to the formation ofdeaminated lysine (allysine) (PubMed:27735137). Acts as atranscription corepressor and specifically mediates deamination oftrimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag forepigenetic transcriptional activation (PubMed:27735137). Shows noactivity against histone H3 when it is trimethylated on 'Lys-9'(H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated(H3K4me1) or dimethylated (H3K4me2) (PubMed:27735137). Alsomediates deamination of methylated TAF10, a member of thetranscription factor IID (TFIID) complex, which induces release ofTAF10 from promoters, leading to inhibition of TFIID-dependenttranscription (PubMed:25959397). LOXL2-mediated deamination ofTAF10 results in transcriptional repression of genes required forembryonic stem cell pluripotency including POU5F1/OCT4, NANOG,KLF4 and SOX2 (By similarity). Involved in epithelial tomesenchymal transition (EMT) via interaction with SNAI1 andparticipates in repression of E-cadherin CDH1, probably bymediating deamination of histone H3 (PubMed:16096638,PubMed:27735137, PubMed:24414204). During EMT, involved with SNAI1in negatively regulating pericentromeric heterochromatintranscription (PubMed:24239292). SNAI1 recruits LOXL2 topericentromeric regions to oxidize histone H3 and represstranscription which leads to release of heterochromatin componentCBX5/HP1A, enabling chromatin reorganization and acquisition ofmesenchymal traits (PubMed:24239292). Interacts with theendoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1pathway of the unfolded protein response, leading to expression ofseveral transcription factors involved in EMT and subsequent EMTinduction (PubMed:28332555). Involved in E-cadherin repressionfollowing hypoxia, a hallmark of EMT believed to amplify tumoraggressiveness, suggesting that it may play a role in tumorprogression (PubMed:20026874). When secreted into theextracellular matrix, promotes cross-linking of extracellularmatrix proteins by mediating oxidative deamination of peptidyllysine residues in precursors to fibrous collagen and elastin(PubMed:20306300). Acts as a regulator of sprouting angiogenesis,probably via collagen IV scaffolding (PubMed:21835952). Acts as aregulator of chondrocyte differentiation, probably by regulatingexpression of factors that control chondrocyte differentiation (Bysimilarity). {ECO:0000250|UniProtKB:P58022,ECO:0000269|PubMed:16096638, ECO:0000269|PubMed:20026874,ECO:0000269|PubMed:20306300, ECO:0000269|PubMed:21835952,ECO:0000269|PubMed:24239292, ECO:0000269|PubMed:24414204,ECO:0000269|PubMed:25959397, ECO:0000269|PubMed:27735137}. Functions as a chaperone protein. Is one of the mostabundant endoplasmic reticulum (ER) proteins. Plays a role in theexport of secreted proteins in the ER, the recognition ofabnormally folded protein and their targeting to the ERassociated-degradation (ERAD). Also serves as a cargo receptor forthe export of transmembrane proteins. May be involved in CASP8-mediated apoptosis. {ECO:0000269|PubMed:10958671,ECO:0000269|PubMed:18287538, ECO:0000269|PubMed:9396746}.

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 LOXL2_BCAP31


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 LOXL2_BCAP31


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


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 LOXL2_BCAP31


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 LOXL2_BCAP31


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLOXL2C1458155Mammary Neoplasms2CTD_human
HgeneLOXL2C0007621Neoplastic Cell Transformation1CTD_human
HgeneLOXL2C0019163Hepatitis B1CTD_human
HgeneLOXL2C0019196Hepatitis C1CTD_human
HgeneLOXL2C0019202Hepatolenticular Degeneration1CTD_human
HgeneLOXL2C0023892Biliary cirrhosis1CTD_human
HgeneLOXL2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneLOXL2C0027626Neoplasm Invasiveness1CTD_human
HgeneLOXL2C0279626Squamous cell carcinoma of esophagus1CTD_human