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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: 19668

FusionGeneSummary for LGR5_FAM19A2

check button Fusion gene summary
Fusion gene informationFusion gene name: LGR5_FAM19A2
Fusion gene ID: 19668
HgeneTgene
Gene symbol

LGR5

FAM19A2

Gene ID

8549

338811

Gene nameleucine rich repeat containing G protein-coupled receptor 5family with sequence similarity 19 member A2, C-C motif chemokine like
SynonymsFEX|GPR49|GPR67|GRP49|HG38TAFA-2|TAFA2
Cytomap

12q21.1

12q14.1

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat-containing G-protein coupled receptor 5G-protein coupled receptor 49G-protein coupled receptor 67G-protein coupled receptor HG38orphan G protein-coupled receptor HG38protein FAM19A2chemokine-like protein TAFA-2family with sequence similarity 19 (chemokine (C-C motif)-like), member A2
Modification date2018052720180519
UniProtAcc

O75473

Q8N3H0

Ensembl transtripts involved in fusion geneENST00000266674, ENST00000536515, 
ENST00000540815, 
ENST00000416284, 
ENST00000551619, ENST00000550003, 
ENST00000551449, ENST00000549456, 
Fusion gene scores* DoF score5 X 3 X 2=3011 X 6 X 5=330
# samples 510
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/330*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LGR5 [Title/Abstract] AND FAM19A2 [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
HgeneLGR5

GO:0090263

positive regulation of canonical Wnt signaling pathway

21693646|22815884


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
TCGARVSARCTCGA-SG-A6Z7-01ALGR5chr12

71928966

+FAM19A2chr12

62261207

-
* 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-5UTRENST00000266674ENST00000416284LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000266674ENST00000551619LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-intronENST00000266674ENST00000550003LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000266674ENST00000551449LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-intronENST00000266674ENST00000549456LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000536515ENST00000416284LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000536515ENST00000551619LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-intronENST00000536515ENST00000550003LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000536515ENST00000551449LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-intronENST00000536515ENST00000549456LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000540815ENST00000416284LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000540815ENST00000551619LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-intronENST00000540815ENST00000550003LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-5UTRENST00000540815ENST00000551449LGR5chr12

71928966

+FAM19A2chr12

62261207

-
5CDS-intronENST00000540815ENST00000549456LGR5chr12

71928966

+FAM19A2chr12

62261207

-

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FusionProtFeatures for LGR5_FAM19A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LGR5

O75473

FAM19A2

Q8N3H0

Receptor for R-spondins that potentiates the canonicalWnt signaling pathway and acts as a stem cell marker of theintestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates withphosphorylated LRP6 and frizzled receptors that are activated byextracellular Wnt receptors, triggering the canonical Wntsignaling pathway to increase expression of target genes. Incontrast to classical G-protein coupled receptors, does notactivate heterotrimeric G-proteins to transduce the signal.Involved in the development and/or maintenance of the adultintestinal stem cells during postembryonic development.{ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:21727895,ECO:0000269|PubMed:21909076, ECO:0000269|PubMed:22815884,ECO:0000269|PubMed:23809763}.

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 LGR5_FAM19A2


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 LGR5_FAM19A2


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
LGR5NTRK1, ZNRF3FAM19A2TRIM25


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 LGR5_FAM19A2


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 LGR5_FAM19A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLGR5C0009375Colonic Neoplasms1CTD_human
HgeneLGR5C0009404Colorectal Neoplasms1CTD_human