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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: 19842

FusionGeneSummary for LLGL2_ITGB4

check button Fusion gene summary
Fusion gene informationFusion gene name: LLGL2_ITGB4
Fusion gene ID: 19842
HgeneTgene
Gene symbol

LLGL2

ITGB4

Gene ID

3993

3691

Gene nameLLGL2, scribble cell polarity complex componentintegrin subunit beta 4
SynonymsHGL|Hugl-2|LGL2CD104|GP150
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionlethal(2) giant larvae protein homolog 2human giant larvae homologlethal giant larvae homolog 2, scribble cell polarity complex componentintegrin beta-4CD104 antigen
Modification date2018052320180527
UniProtAcc

Q6P1M3

P16144

Ensembl transtripts involved in fusion geneENST00000167462, ENST00000375227, 
ENST00000392550, ENST00000578363, 
ENST00000577200, 		ENST00000579662, 
ENST00000339591, ENST00000200181, 
ENST00000450894, ENST00000449880, 
ENST00000584558, 
Fusion gene scores* DoF score12 X 12 X 8=11524 X 4 X 5=80
# samples 145
** MAII scorelog2(14/1152*10)=-3.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LLGL2 [Title/Abstract] AND ITGB4 [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
HgeneLLGL2

GO:0032878

regulation of establishment or maintenance of cell polarity

12725730

TgeneITGB4

GO:0009611

response to wounding

19403692

TgeneITGB4

GO:0031581

hemidesmosome assembly

12482924


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
TCGALDSTADTCGA-HU-A4G3-01ALLGL2chr17

73529786

+ITGB4chr17

73748255

+
* 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-3CDSENST00000167462ENST00000579662LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000167462ENST00000339591LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000167462ENST00000200181LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000167462ENST00000450894LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000167462ENST00000449880LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-intronENST00000167462ENST00000584558LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000375227ENST00000579662LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000375227ENST00000339591LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000375227ENST00000200181LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000375227ENST00000450894LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000375227ENST00000449880LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-intronENST00000375227ENST00000584558LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000392550ENST00000579662LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000392550ENST00000339591LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000392550ENST00000200181LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000392550ENST00000450894LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000392550ENST00000449880LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-intronENST00000392550ENST00000584558LLGL2chr17

73529786

+ITGB4chr17

73748255

+
5UTR-3CDSENST00000578363ENST00000579662LLGL2chr17

73529786

+ITGB4chr17

73748255

+
5UTR-3CDSENST00000578363ENST00000339591LLGL2chr17

73529786

+ITGB4chr17

73748255

+
5UTR-3CDSENST00000578363ENST00000200181LLGL2chr17

73529786

+ITGB4chr17

73748255

+
5UTR-3CDSENST00000578363ENST00000450894LLGL2chr17

73529786

+ITGB4chr17

73748255

+
5UTR-3CDSENST00000578363ENST00000449880LLGL2chr17

73529786

+ITGB4chr17

73748255

+
5UTR-intronENST00000578363ENST00000584558LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000577200ENST00000579662LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000577200ENST00000339591LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000577200ENST00000200181LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000577200ENST00000450894LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-3CDSENST00000577200ENST00000449880LLGL2chr17

73529786

+ITGB4chr17

73748255

+
intron-intronENST00000577200ENST00000584558LLGL2chr17

73529786

+ITGB4chr17

73748255

+

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FusionProtFeatures for LLGL2_ITGB4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LLGL2

Q6P1M3

ITGB4

P16144

Part of a complex with GPSM2/LGN, PRKCI/aPKC andPARD6B/Par-6, which may ensure the correct organization andorientation of bipolar spindles for normal cell division. Thiscomplex plays roles in the initial phase of the establishment ofepithelial cell polarity. {ECO:0000269|PubMed:15632202}.

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 LLGL2_ITGB4


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 LLGL2_ITGB4


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
LLGL2PARD6B, PARD6G, PARD6A, PRKCI, LLGL2, PRKCZ, IFI30, BAG5, STUB1, DNAJA1, DNAJA2, DNAJB1, KBTBD7, NUDC, RAD18, SQSTM1, SUGT1, TIMM13, PTEN, CCNB1, LYST, ATF2, BPTF, MTOR, MAP3K1, ALDH18A1, RBBP6, ST5, SVIL, TAF9, SF1, BAG6, MKNK1, EXO1, NOLC1, ZNHIT3, VPRBP, HMGXB4, DNM1L, ABCA7, CASC3, PALLD, ZC3H3, KIAA0556, DAPK2, ATP5S, ECSIT, PHF21A, EPB41L4B, C11orf57, IMP3, IMPACT, IWS1, RNF20, BIRC6, PLEKHG1, RBM26, PHACTR4, BHLHE41, GCC1, ZNF668, KIAA1715, FIP1L1, CD99L2, ZNF707, FMN1, BRWD3, ZMYND8, GSE1, ZNF592, TOPORS, CACTIN, ZNF687, PPFIA1, DDA1, TRIM26, C1QBP, HMG20A, UBE2O, C18orf25, NKTR, HMG20B, NKAP, RCOR3, CSNK2A1, KBTBD6, UBE2A, RAB30, NEK7, RCOR1, GTPBP4, THRAP3, DIEXFITGB4SHC1, EIF6, ERBB2IP, ALOX12, COL17A1, DST, SREBF2, ITGA3, ARRDC3, ATXN1, SMAD2, SMAD3, PLEC, JUP, HNRNPU, ATF2, ENPP2, LPAR1, SEL1L, ILK, HNRNPD, VCP, MYH13, TNRC6A, SGTB, GEMIN7, MYO19, KLC3, BAG6, PPP2R3C, SKI, EGFR, MUC5AC


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 LLGL2_ITGB4


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 LLGL2_ITGB4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneITGB4C1856934Epidermolysis bullosa with pyloric atresia9CTD_human;ORPHANET;UNIPROT
TgeneITGB4C0266159Pyloric Atresia2CTD_human
TgeneITGB4C0000786Spontaneous abortion1CTD_human
TgeneITGB4C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneITGB4C0013575Ectodermal Dysplasia1CTD_human
TgeneITGB4C0014527Epidermolysis Bullosa1CTD_human
TgeneITGB4C0017639Gliosis1CTD_human
TgeneITGB4C0036095Salivary Gland Neoplasms1CTD_human
TgeneITGB4C0079301Junctional Epidermolysis Bullosa1CTD_human
TgeneITGB4C0268374Adult junctional epidermolysis bullosa (disorder)1CTD_human;ORPHANET;UNIPROT