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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: 20064

FusionGeneSummary for LRBA_KTN1

check button Fusion gene summary
Fusion gene informationFusion gene name: LRBA_KTN1
Fusion gene ID: 20064
HgeneTgene
Gene symbol

LRBA

KTN1

Gene ID

987

3895

Gene nameLPS responsive beige-like anchor proteinkinectin 1
SynonymsBGL|CDC4L|CVID8|LAB300|LBACG1|KNT|MU-RMS-40.19
Cytomap

4q31.3

14q22.3

Type of geneprotein-codingprotein-coding
Descriptionlipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containingkinectinCG-1 antigenkinesin receptor
Modification date2018051920180522
UniProtAcc

P50851

Q86UP2

Ensembl transtripts involved in fusion geneENST00000535741, ENST00000510413, 
ENST00000503716, ENST00000357115, 
ENST00000507224, 		ENST00000395309, 
ENST00000413890, ENST00000438792, 
ENST00000395314, ENST00000395308, 
ENST00000395311, ENST00000416613, 
ENST00000554507, ENST00000555573, 
Fusion gene scores* DoF score16 X 15 X 12=28806 X 9 X 3=162
# samples 229
** MAII scorelog2(22/2880*10)=-3.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/162*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRBA [Title/Abstract] AND KTN1 [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
ChiTaRS3.1BF815703LRBAchr4

151531135

+KTN1chr14

56096715

+
* 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-3CDSENST00000535741ENST00000395309LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000535741ENST00000413890LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000535741ENST00000438792LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000535741ENST00000395314LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000535741ENST00000395308LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000535741ENST00000395311LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000535741ENST00000416613LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000535741ENST00000554507LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000535741ENST00000555573LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000395309LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000413890LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000438792LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000395314LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000395308LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000395311LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000510413ENST00000416613LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000510413ENST00000554507LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000510413ENST00000555573LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000395309LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000413890LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000438792LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000395314LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000395308LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000395311LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000503716ENST00000416613LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000503716ENST00000554507LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000503716ENST00000555573LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000395309LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000413890LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000438792LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000395314LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000395308LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000395311LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000357115ENST00000416613LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000357115ENST00000554507LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000357115ENST00000555573LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000395309LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000413890LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000438792LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000395314LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000395308LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000395311LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-3CDSENST00000507224ENST00000416613LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000507224ENST00000554507LRBAchr4

151531135

+KTN1chr14

56096715

+
intron-intronENST00000507224ENST00000555573LRBAchr4

151531135

+KTN1chr14

56096715

+

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FusionProtFeatures for LRBA_KTN1


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

P50851

KTN1

Q86UP2

May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {ECO:0000250}. Receptor for kinesin thus involved in kinesin-drivenvesicle motility. Accumulates in integrin-based adhesion complexes(IAC) upon integrin aggregation by fibronectin.

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_KTN1


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_KTN1


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 LRBA_KTN1


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_KTN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRBAC3553512IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY1ORPHANET;UNIPROT
TgeneKTN1C0023893Liver Cirrhosis, Experimental1CTD_human