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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: 11043

FusionGeneSummary for EFHC1_LPHN3

check button Fusion gene summary
Fusion gene informationFusion gene name: EFHC1_LPHN3
Fusion gene ID: 11043
HgeneTgene
Gene symbol

EFHC1

LPHN3

Gene ID

114327

23284

Gene nameEF-hand domain containing 1adhesion G protein-coupled receptor L3
SynonymsEJM1|dJ304B14.2CIRL3|CL3|LEC3|LPHN3
Cytomap

6p12.2

4q13.1

Type of geneprotein-codingprotein-coding
DescriptionEF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1adhesion G protein-coupled receptor L3CIRL-3calcium-independent alpha-latrotoxin receptor 3latrophilin homolog 3 (cow)latrophilin-3lectomedin 3
Modification date2018051920180523
UniProtAcc

Q5JVL4

Ensembl transtripts involved in fusion geneENST00000371068, ENST00000491749, 
ENST00000433625, ENST00000538167, 
ENST00000512091, ENST00000514591, 
ENST00000511324, ENST00000506700, 
ENST00000509896, ENST00000545650, 
ENST00000508693, ENST00000507164, 
ENST00000507625, ENST00000514157, 
ENST00000504896, ENST00000514996, 
ENST00000506720, ENST00000506746, 
ENST00000508946, ENST00000508078, 
Fusion gene scores* DoF score9 X 9 X 4=3243 X 3 X 3=27
# samples 93
** MAII scorelog2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EFHC1 [Title/Abstract] AND LPHN3 [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
TgeneLPHN3

GO:0098742

cell-cell adhesion via plasma-membrane adhesion molecules

26235030


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
TCGARVBRCATCGA-BH-A0HY-01AEFHC1chr6

52288965

+LPHN3chr4

62362839

+
* 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-5UTRENST00000371068ENST00000512091EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000371068ENST00000514591EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000371068ENST00000511324EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000371068ENST00000506700EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000371068ENST00000509896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000371068ENST00000545650EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000508693EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000507164EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000507625EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000514157EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000504896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000514996EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000506720EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000506746EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000508946EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000371068ENST00000508078EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-5UTRENST00000491749ENST00000512091EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-5UTRENST00000491749ENST00000514591EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-5UTRENST00000491749ENST00000511324EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-5UTRENST00000491749ENST00000506700EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-5UTRENST00000491749ENST00000509896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-5UTRENST00000491749ENST00000545650EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000508693EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000507164EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000507625EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000514157EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000504896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000514996EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000506720EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000506746EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000508946EFHC1chr6

52288965

+LPHN3chr4

62362839

+
3UTR-intronENST00000491749ENST00000508078EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-5UTRENST00000433625ENST00000512091EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-5UTRENST00000433625ENST00000514591EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-5UTRENST00000433625ENST00000511324EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-5UTRENST00000433625ENST00000506700EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-5UTRENST00000433625ENST00000509896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-5UTRENST00000433625ENST00000545650EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000508693EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000507164EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000507625EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000514157EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000504896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000514996EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000506720EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000506746EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000508946EFHC1chr6

52288965

+LPHN3chr4

62362839

+
intron-intronENST00000433625ENST00000508078EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000538167ENST00000512091EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000538167ENST00000514591EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000538167ENST00000511324EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000538167ENST00000506700EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000538167ENST00000509896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-5UTRENST00000538167ENST00000545650EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000508693EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000507164EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000507625EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000514157EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000504896EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000514996EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000506720EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000506746EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000508946EFHC1chr6

52288965

+LPHN3chr4

62362839

+
5CDS-intronENST00000538167ENST00000508078EFHC1chr6

52288965

+LPHN3chr4

62362839

+

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FusionProtFeatures for EFHC1_LPHN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFHC1

Q5JVL4

LPHN3

Microtubule-associated protein which regulates celldivision and neuronal migration during cortical development.Necessary for mitotic spindle organization (PubMed:19734894,PubMed:28370826). Necessary for radial and tangential cellmigration during brain development, possibly acting as a regulatorof cell morphology and process formation during migration(PubMed:22926142). May enhance calcium influx through CACNA1E andstimulate programmed cell death (PubMed:15258581).{ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894,ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 EFHC1_LPHN3


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 EFHC1_LPHN3


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
EFHC1TEX11, CACNA1E, REL, TCF4, IKZF3, EIF4ENIF1, DOK7, BRAP, FBXW7, HAUS4, HAUS1, CCDC150, SRM, COA7LPHN3ASGR2, FLRT1, LPAR1, C3AR1, MMP26, CLEC2D, IPPK


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 EFHC1_LPHN3


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 EFHC1_LPHN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFHC1C0270853Myoclonic Epilepsy, Juvenile4CTD_human;ORPHANET;UNIPROT