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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: 9739

FusionGeneSummary for DENND4C_ACER2

check button Fusion gene summary
Fusion gene informationFusion gene name: DENND4C_ACER2
Fusion gene ID: 9739
HgeneTgene
Gene symbol

DENND4C

ACER2

Gene ID

55667

340485

Gene nameDENN domain containing 4Calkaline ceramidase 2
SynonymsC9orf55|C9orf55B|RAB10GEF|bA513M16.3ALKCDase2|ASAH3L
Cytomap

9p22.1

9p22.1

Type of geneprotein-codingprotein-coding
DescriptionDENN domain-containing protein 4CDENN/MADD domain containing 4A pseudogeneDENN/MADD domain containing 4Calkaline ceramidase 2alkCDase 2alkaline CDase 2ceramide hydrolasehaCER2
Modification date2018051920180329
UniProtAcc

Q5VZ89

Q5QJU3

Ensembl transtripts involved in fusion geneENST00000434457, ENST00000602925, 
ENST00000380432, 
ENST00000380376, 
ENST00000340967, 
Fusion gene scores* DoF score6 X 5 X 5=1501 X 2 X 1=2
# samples 72
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/2*10)=3.32192809488736
Context

PubMed: DENND4C [Title/Abstract] AND ACER2 [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
TgeneACER2

GO:0001953

negative regulation of cell-matrix adhesion

18945876

TgeneACER2

GO:0008284

positive regulation of cell proliferation

16940153

TgeneACER2

GO:0032526

response to retinoic acid

18945876

TgeneACER2

GO:0033629

negative regulation of cell adhesion mediated by integrin

18945876

TgeneACER2

GO:0046512

sphingosine biosynthetic process

16940153|20089856|20628055


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
TCGALDBLCATCGA-BL-A13J-01ADENND4Cchr9

19230831

+ACER2chr9

19446279

+
TCGALDBLCATCGA-XF-A9SP-01ADENND4Cchr9

19360486

+ACER2chr9

19423859

+
* 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-intronENST00000434457ENST00000380376DENND4Cchr9

19230831

+ACER2chr9

19446279

+
5UTR-intronENST00000434457ENST00000340967DENND4Cchr9

19230831

+ACER2chr9

19446279

+
5UTR-intronENST00000602925ENST00000380376DENND4Cchr9

19230831

+ACER2chr9

19446279

+
5UTR-intronENST00000602925ENST00000340967DENND4Cchr9

19230831

+ACER2chr9

19446279

+
intron-intronENST00000380432ENST00000380376DENND4Cchr9

19230831

+ACER2chr9

19446279

+
intron-intronENST00000380432ENST00000340967DENND4Cchr9

19230831

+ACER2chr9

19446279

+
5CDS-5UTRENST00000434457ENST00000380376DENND4Cchr9

19360486

+ACER2chr9

19423859

+
5CDS-5UTRENST00000434457ENST00000340967DENND4Cchr9

19360486

+ACER2chr9

19423859

+
5CDS-5UTRENST00000602925ENST00000380376DENND4Cchr9

19360486

+ACER2chr9

19423859

+
5CDS-5UTRENST00000602925ENST00000340967DENND4Cchr9

19360486

+ACER2chr9

19423859

+
5CDS-5UTRENST00000380432ENST00000380376DENND4Cchr9

19360486

+ACER2chr9

19423859

+
5CDS-5UTRENST00000380432ENST00000340967DENND4Cchr9

19360486

+ACER2chr9

19423859

+

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FusionProtFeatures for DENND4C_ACER2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DENND4C

Q5VZ89

ACER2

Q5QJU3

Hydrolyzes the sphingolipid ceramide into sphingosineand free fatty acid. Unsaturated long-chain ceramides are the bestsubstrates, saturated long-chain ceramides and unsaturated verylong-chain ceramides are good substrates, whereas saturated verylong-chain ceramides and short-chain ceramides were poorsubstrates. The substrate preference is D-erythro-C(18:1)-,C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide> D-erythro-C(6:0)-ceramide. Inhibits the maturation of proteinglycosylation in the Golgi complex, including that of integrinbeta-1 (ITGB1) and of LAMP1, by increasing the levels ofsphingosine. Inhibits cell adhesion by reducing the level of ITGB1in the cell surface. May have a role in cell proliferation andapoptosis that seems to depend on the balance between sphingosineand sphingosine-1-phosphate. {ECO:0000269|PubMed:16940153,ECO:0000269|PubMed:18945876, ECO:0000269|PubMed:20089856}.

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 DENND4C_ACER2


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 DENND4C_ACER2


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
DENND4CYWHAB, FBXW11, MED4, OFD1, XPO1, CDK8, C1orf112, CDH1, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, CGN, LRFN1, DENND1A, RTKN, SH3PXD2A, MAST3, SRGAP2, EIF4E2, SIPA1L1, PPM1H, LPIN3, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, MAPKAP1, NF1, HDAC4, CBY1, SH3RF3, SRSF12, CDC25C, SYDE1, AGAP1, NADK, GIGYF2, CDC25B, CDK16, TANC2, PTPN13, CAMSAP2, RALGPS2, FAM110B, USP21, KIAA1804, RASAL2, TIAM1, FAM53C, ANKRD34A, OSBPL6, PHLDB2, RPTOR, PLEKHA7, KIF1C, CSNK1A1, MELK, NAV1, DENND4A, FAM110A, GAB2, STARD13, PTPN14, WEE1, INPP5EACER2


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 DENND4C_ACER2


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 DENND4C_ACER2


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