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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: 20062

FusionGeneSummary for LRBA_HFE2

check button Fusion gene summary
Fusion gene informationFusion gene name: LRBA_HFE2
Fusion gene ID: 20062
HgeneTgene
Gene symbol

LRBA

HFE2

Gene ID

987

Gene nameLPS responsive beige-like anchor protein
SynonymsBGL|CDC4L|CVID8|LAB300|LBA
Cytomap

4q31.3

Type of geneprotein-coding
Descriptionlipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing
Modification date20180519
UniProtAcc

P50851

Q6ZVN8

Ensembl transtripts involved in fusion geneENST00000535741, ENST00000510413, 
ENST00000503716, ENST00000357115, 
ENST00000507224, 
ENST00000357836, 
ENST00000336751, ENST00000497365, 
ENST00000475797, 
Fusion gene scores* DoF score16 X 15 X 12=28804 X 2 X 4=32
# samples 224
** MAII scorelog2(22/2880*10)=-3.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: LRBA [Title/Abstract] AND HFE2 [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

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
TCGARVPRADTCGA-VN-A88N-01ALRBAchr4

151656410

-HFE2chr1

145415279

+
* 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
5CDS-5UTRENST00000535741ENST00000357836LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000535741ENST00000336751LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000535741ENST00000497365LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-intronENST00000535741ENST00000475797LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000510413ENST00000357836LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000510413ENST00000336751LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000510413ENST00000497365LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-intronENST00000510413ENST00000475797LRBAchr4

151656410

-HFE2chr1

145415279

+
intron-5UTRENST00000503716ENST00000357836LRBAchr4

151656410

-HFE2chr1

145415279

+
intron-5UTRENST00000503716ENST00000336751LRBAchr4

151656410

-HFE2chr1

145415279

+
intron-5UTRENST00000503716ENST00000497365LRBAchr4

151656410

-HFE2chr1

145415279

+
intron-intronENST00000503716ENST00000475797LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000357115ENST00000357836LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000357115ENST00000336751LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000357115ENST00000497365LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-intronENST00000357115ENST00000475797LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000507224ENST00000357836LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000507224ENST00000336751LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-5UTRENST00000507224ENST00000497365LRBAchr4

151656410

-HFE2chr1

145415279

+
5CDS-intronENST00000507224ENST00000475797LRBAchr4

151656410

-HFE2chr1

145415279

+

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FusionProtFeatures for LRBA_HFE2


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

P50851

HFE2

Q6ZVN8

May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {ECO:0000250}. Acts as a bone morphogenetic protein (BMP) coreceptor.Through enhancement of BMP signaling regulates hepcidin (HAMP)expression and regulates iron homeostasis.{ECO:0000250|UniProtKB:Q7TQ32}.

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 LRBA_HFE2


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 LRBA_HFE2


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
LRBATUSC2, NOTCH1, FN1, BAG3, CAST, KIF15, DCAF11, INPPL1, MLF2, VCP, MOV10, RIC3, CT55, PARP16, RD3, TMEM52B, MED4, TMEM17, TMEM216, NCR3LG1, PVR, FAM196A, EPHA1, GYPB, DLK2, TRIM25HFE2


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 LRBA_HFE2


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 LRBA_HFE2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRBAC3553512IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY1ORPHANET;UNIPROT