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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: 8038

FusionGeneSummary for COMMD2_POFUT1

check button Fusion gene summary
Fusion gene informationFusion gene name: COMMD2_POFUT1
Fusion gene ID: 8038
HgeneTgene
Gene symbol

COMMD2

POFUT1

Gene ID

51122

23509

Gene nameCOMM domain containing 2protein O-fucosyltransferase 1
SynonymsHSPC042DDD2|FUT12|O-FUT|O-Fuc-T|O-FucT-1|OFUCT1
Cytomap

3q25.1

20q11.21

Type of geneprotein-codingprotein-coding
DescriptionCOMM domain-containing protein 2GDP-fucose protein O-fucosyltransferase 1o-fucosyltransferase proteinpeptide-O-fucosyltransferase 1
Modification date2018051920180519
UniProtAcc

Q86X83

Q9H488

Ensembl transtripts involved in fusion geneENST00000473414, ENST00000375749, 
ENST00000375730, ENST00000539210, 
ENST00000486717, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 3=48
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: COMMD2 [Title/Abstract] AND POFUT1 [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
TgenePOFUT1

GO:0006493

protein O-linked glycosylation

9023546|11524432

TgenePOFUT1

GO:0036066

protein O-linked fucosylation

15653671


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
ChiTaRS3.1BE621420COMMD2chr3

149458981

-POFUT1chr20

30824255

+
* 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-3UTRENST00000473414ENST00000375749COMMD2chr3

149458981

-POFUT1chr20

30824255

+
intron-intronENST00000473414ENST00000375730COMMD2chr3

149458981

-POFUT1chr20

30824255

+
intron-intronENST00000473414ENST00000539210COMMD2chr3

149458981

-POFUT1chr20

30824255

+
intron-intronENST00000473414ENST00000486717COMMD2chr3

149458981

-POFUT1chr20

30824255

+

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FusionProtFeatures for COMMD2_POFUT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COMMD2

Q86X83

POFUT1

Q9H488

May modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes (PubMed:21778237). May down-regulate activation ofNF-kappa-B (PubMed:15799966). {ECO:0000269|PubMed:15799966,ECO:0000305|PubMed:21778237}. Catalyzes the reaction that attaches fucose through anO-glycosidic linkage to a conserved serine or threonine residuefound in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains,where C2 and C3 are the second and third conserved cysteines.Specifically uses GDP-fucose as donor substrate and properdisulfide pairing of the substrate EGF domains is required forfucose transfer. Plays a crucial role in NOTCH signaling. Initialfucosylation of NOTCH by POFUT1 generates a substrate forFRINGE/RFNG, an acetylglucosaminyltransferase that can then extendthe fucosylation on the NOTCH EGF repeats. This extendedfucosylation is required for optimal ligand binding and canonicalNOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN anddetermines its ability to cluster acetylcholine receptors (AChRs).{ECO:0000269|PubMed:11524432, ECO:0000269|PubMed:28334865,ECO:0000269|PubMed:8358148}.

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 COMMD2_POFUT1


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 COMMD2_POFUT1


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 COMMD2_POFUT1


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 COMMD2_POFUT1


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