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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: 10931

FusionGeneSummary for EDEM3_GBAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: EDEM3_GBAP1
Fusion gene ID: 10931
HgeneTgene
Gene symbol

EDEM3

GBAP1

Gene ID

80267

2630

Gene nameER degradation enhancing alpha-mannosidase like protein 3glucosylceramidase beta pseudogene 1
SynonymsC1orf22GBAP
Cytomap

1q25.3

1q22

Type of geneprotein-codingpseudo
DescriptionER degradation-enhancing alpha-mannosidase-like protein 3ER degradation enhancer, mannosidase alpha-like 3ER degradation-enhancing -mannosidase-like protein 3ER degradation-enhancing alpha-mannosidase-like 3alpha-1,2-mannosidase EDEM3glucosidase, beta, acid pseudogene 1glucosidase, beta; acid, pseudogeneglucosylceramidase-like protein
Modification date2018052220180329
UniProtAcc

Q9BZQ6

Ensembl transtripts involved in fusion geneENST00000318130, ENST00000367512, 
ENST00000466392, 
ENST00000486869, 
Fusion gene scores* DoF score4 X 4 X 3=483 X 3 X 3=27
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
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: EDEM3 [Title/Abstract] AND GBAP1 [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
ChiTaRS3.1M16328EDEM3chr1

184664531

+GBAP1chr1

155210991

-
* 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-intronENST00000318130ENST00000486869EDEM3chr1

184664531

+GBAP1chr1

155210991

-
intron-intronENST00000367512ENST00000486869EDEM3chr1

184664531

+GBAP1chr1

155210991

-
intron-intronENST00000466392ENST00000486869EDEM3chr1

184664531

+GBAP1chr1

155210991

-

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FusionProtFeatures for EDEM3_GBAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EDEM3

Q9BZQ6

GBAP1

Involved in endoplasmic reticulum-associated degradation(ERAD). Accelerates the glycoprotein ERAD by proteasomes, bycatalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in theN-glycans. Seems to have alpha 1,2-mannosidase activity (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:25092655}. 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 EDEM3_GBAP1


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 EDEM3_GBAP1


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 EDEM3_GBAP1


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 EDEM3_GBAP1


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