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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: 11593

FusionGeneSummary for ENC1_LRBA

check button Fusion gene summary
Fusion gene informationFusion gene name: ENC1_LRBA
Fusion gene ID: 11593
HgeneTgene
Gene symbol

ENC1

LRBA

Gene ID

8507

987

Gene nameectodermal-neural cortex 1LPS responsive beige-like anchor protein
SynonymsCCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10BGL|CDC4L|CVID8|LAB300|LBA
Cytomap

5q13.3

4q31.3

Type of geneprotein-codingprotein-coding
Descriptionectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB dolipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing
Modification date2018052320180519
UniProtAcc

O14682

P50851

Ensembl transtripts involved in fusion geneENST00000302351, ENST00000510316, 
ENST00000509284, ENST00000537006, 
ENST00000535741, ENST00000510413, 
ENST00000503716, ENST00000357115, 
ENST00000507224, 
Fusion gene scores* DoF score3 X 2 X 1=615 X 15 X 7=1575
# samples 418
** MAII scorelog2(4/6*10)=2.73696559416621log2(18/1575*10)=-3.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENC1 [Title/Abstract] AND LRBA [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
HgeneENC1

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

HgeneENC1

GO:0016567

protein ubiquitination

15983046

HgeneENC1

GO:0017148

negative regulation of translation

19424503


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
ChiTaRS3.1BC008644ENC1chr5

73936130

-LRBAchr4

151186964

-
ChiTaRS3.1BE873019ENC1chr5

73936130

-LRBAchr4

151186964

-
* 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
5UTR-3CDSENST00000302351ENST00000535741ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-3CDSENST00000302351ENST00000510413ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-5UTRENST00000302351ENST00000503716ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-5UTRENST00000302351ENST00000357115ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-intronENST00000302351ENST00000507224ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-3CDSENST00000510316ENST00000535741ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-3CDSENST00000510316ENST00000510413ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-5UTRENST00000510316ENST00000503716ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-5UTRENST00000510316ENST00000357115ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-intronENST00000510316ENST00000507224ENC1chr5

73936130

-LRBAchr4

151186964

-
intron-3CDSENST00000509284ENST00000535741ENC1chr5

73936130

-LRBAchr4

151186964

-
intron-3CDSENST00000509284ENST00000510413ENC1chr5

73936130

-LRBAchr4

151186964

-
intron-5UTRENST00000509284ENST00000503716ENC1chr5

73936130

-LRBAchr4

151186964

-
intron-5UTRENST00000509284ENST00000357115ENC1chr5

73936130

-LRBAchr4

151186964

-
intron-intronENST00000509284ENST00000507224ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-3CDSENST00000537006ENST00000535741ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-3CDSENST00000537006ENST00000510413ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-5UTRENST00000537006ENST00000503716ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-5UTRENST00000537006ENST00000357115ENC1chr5

73936130

-LRBAchr4

151186964

-
5UTR-intronENST00000537006ENST00000507224ENC1chr5

73936130

-LRBAchr4

151186964

-

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FusionProtFeatures for ENC1_LRBA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ENC1

O14682

LRBA

P50851

Actin-binding protein involved in the regulation ofneuronal process formation and in differentiation of neural crestcells. Down-regulates transcription factor NF2L2/NRF2 bydecreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.{ECO:0000269|PubMed:19424503}. May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {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


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FusionGeneSequence for ENC1_LRBA


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 ENC1_LRBA


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
ENC1RB1, CUL3, RBX1, KEAP1, NACC1, NFE2L2, SNCA, HSP90AA1, ACTB, ENC1, SQSTM1, KLHL25, NUDCD3, PLIN5LRBATUSC2, NOTCH1, FN1, BAG3, CAST, KIF15, DCAF11, INPPL1, MLF2, VCP, MOV10, RIC3, CT55, PARP16, RD3, TMEM52B, MED4, TMEM17, TMEM216, NCR3LG1, PVR, FAM196A, EPHA1, GYPB, DLK2, TRIM25


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 ENC1_LRBA


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 ENC1_LRBA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENC1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneLRBAC3553512IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY1ORPHANET;UNIPROT