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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: 1590

FusionGeneSummary for AMBRA1_CCDC61

check button Fusion gene summary
Fusion gene informationFusion gene name: AMBRA1_CCDC61
Fusion gene ID: 1590
HgeneTgene
Gene symbol

AMBRA1

CCDC61

Gene ID

55626

729440

Gene nameautophagy and beclin 1 regulator 1coiled-coil domain containing 61
SynonymsDCAF3|WDR94-
Cytomap

11p11.2

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionactivating molecule in BECN1-regulated autophagy protein 1DDB1 and CUL4 associated factor 3WD repeat domain 94activating molecule in beclin-1-regulated autophagyautophagy/beclin-1 regulator 1coiled-coil domain-containing protein 61
Modification date2018052320180523
UniProtAcc

Q9C0C7

Q9Y6R9

Ensembl transtripts involved in fusion geneENST00000298834, ENST00000426438, 
ENST00000314845, ENST00000533727, 
ENST00000534300, ENST00000458649, 
ENST00000528950, ENST00000529963, 
ENST00000263284, ENST00000595358, 
ENST00000536603, ENST00000594087, 
ENST00000601763, 
Fusion gene scores* DoF score10 X 5 X 13=6503 X 2 X 3=18
# samples 183
** MAII scorelog2(18/650*10)=-1.85244281158614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AMBRA1 [Title/Abstract] AND CCDC61 [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
HgeneAMBRA1

GO:0000423

mitophagy

21753002

HgeneAMBRA1

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

21753002

HgeneAMBRA1

GO:0098780

response to mitochondrial depolarisation

21753002


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
TCGARVLGGTCGA-DH-5142-01AAMBRA1chr11

46615378

-CCDC61chr19

46506266

+
* 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-3CDSENST00000298834ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000298834ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000298834ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000298834ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000298834ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000426438ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000426438ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000426438ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000426438ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000426438ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000314845ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000314845ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000314845ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000314845ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000314845ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-3CDSENST00000533727ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000533727ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000533727ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000533727ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-intronENST00000533727ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-3CDSENST00000534300ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000534300ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000534300ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000534300ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-intronENST00000534300ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000458649ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000458649ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000458649ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000458649ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000458649ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-3CDSENST00000528950ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000528950ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000528950ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000528950ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-intronENST00000528950ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000529963ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000529963ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000529963ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000529963ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000529963ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+

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FusionProtFeatures for AMBRA1_CCDC61


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AMBRA1

Q9C0C7

CCDC61

Q9Y6R9

Regulates autophagy and development of the nervoussystem. Involved in autophagy in controlling protein turnoverduring neuronal development, and in regulating normal cellsurvival and proliferation (By similarity). {ECO:0000250}.

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 AMBRA1_CCDC61


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 AMBRA1_CCDC61


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
AMBRA1USP50, DDB1, MAP1B, ATG3, ATG4B, DDA1, BECN1, PARK2, CUL4A, COPS5, ULK1, BCL2, ATG13, TRAF6, MTOR, RPTOR, UBE2D3, ASB8, RNF2, CUL4B, DYNLL1, DYNC1I1, PIK3C3, GABARAP, LRRC29, CISH, RFPL4B, F12, HPS1, CCDC132, TRIM10, LRRC42, TBC1D22A, CAMKMT, PRAMEF5, FBXW11, HSP90AA1, HSPA5, HSPA8, STIP1, CCT3, HSPD1, CCT8, CCT4, CCT2, TUBA1A, TUBB3, BAG5, DNAJB1, ACTN1, SUGT1, STUB1, BAG2, TCEB2, WDR1, GPS1, COPS8, PSMA1, PSMA2, PSMA3, PSMA4, PSMA5, PSMA6, PSMA7, PSMB2, PSMB3, PSMB5, PSMC1, PSMC2, PSMC3, PSMC4, PSMC5, PSMC6, PSMD2, PSMD3, PSMD6, PSMD8, PSMD10, PSMD12, PSMD13, UBL4A, UBC, CUL7, NES, IRGM, PPP2CA, PPP2R1A, MYC, DUSP4, SOCS3, WSB2, DCAF7, DYNLL2, TRIM25CCDC61MED4, CEP162, CEP290, CSNK1E, PPP2CB, PPP2R5D, SRPR, OFD1, CEP135, ZBTB33, FGFR1OP, SLAIN2, CCDC14, KIF7, CDC14A, TPTE2


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 AMBRA1_CCDC61


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 AMBRA1_CCDC61


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAMBRA1C0036341Schizophrenia1PSYGENET