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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: 9724

FusionGeneSummary for DENND2C_AMPD1

check button Fusion gene summary
Fusion gene informationFusion gene name: DENND2C_AMPD1
Fusion gene ID: 9724
HgeneTgene
Gene symbol

DENND2C

AMPD1

Gene ID

163259

270

Gene nameDENN domain containing 2Cadenosine monophosphate deaminase 1
SynonymsdJ1156J9.1MAD|MADA|MMDD
Cytomap

1p13.2

1p13.2

Type of geneprotein-codingprotein-coding
DescriptionDENN domain-containing protein 2CDENN/MADD domain containing 2CRP5-1156J9.1AMP deaminase 1AMPDadenosine monophosphate deaminase 1 (isoform M)adenosine monophosphate deaminase-1 (muscle)myoadenylate deaminaseskeletal muscle AMPD
Modification date2018051920180519
UniProtAcc

Q68D51

P23109

Ensembl transtripts involved in fusion geneENST00000393276, ENST00000393274, 
ENST00000393277, ENST00000481894, 
ENST00000520113, ENST00000369538, 
ENST00000353928, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: DENND2C [Title/Abstract] AND AMPD1 [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
TCGARVBRCATCGA-AR-A0TP-01ADENND2Cchr1

115212604

-AMPD1chr1

115218624

-
* 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-3CDSENST00000393276ENST00000520113DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393276ENST00000369538DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393276ENST00000353928DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393274ENST00000520113DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393274ENST00000369538DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393274ENST00000353928DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393277ENST00000520113DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393277ENST00000369538DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
5UTR-3CDSENST00000393277ENST00000353928DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
intron-3CDSENST00000481894ENST00000520113DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
intron-3CDSENST00000481894ENST00000369538DENND2Cchr1

115212604

-AMPD1chr1

115218624

-
intron-3CDSENST00000481894ENST00000353928DENND2Cchr1

115212604

-AMPD1chr1

115218624

-

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FusionProtFeatures for DENND2C_AMPD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DENND2C

Q68D51

AMPD1

P23109

Guanine nucleotide exchange factor (GEF) which mayactivate RAB9A and RAB9B. Promotes the exchange of GDP to GTP,converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO:0000269|PubMed:20937701}. AMP deaminase plays a critical role in energymetabolism.

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 DENND2C_AMPD1


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 DENND2C_AMPD1


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
DENND2CLYN, HID1, ARHGAP42AMPD1CUL3, CUL1, COPS5, CAND1


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 DENND2C_AMPD1


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 DENND2C_AMPD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAMPD1C2931781Adenosine monophosphate deaminase deficiency3CTD_human;ORPHANET
TgeneAMPD1C0026848Myopathy2CTD_human
TgeneAMPD1C0026846Muscular Atrophy1CTD_human
TgeneAMPD1C0151786Muscle Weakness1CTD_human;HPO
TgeneAMPD1C3714933MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY1UNIPROT