FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AMBRA1-CCDC61 (FusionGDB2 ID:4165)

Fusion Gene Summary for AMBRA1-CCDC61

check button Fusion gene summary
Fusion gene informationFusion gene name: AMBRA1-CCDC61
Fusion gene ID: 4165
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 date2020031320200313
UniProtAcc

Q9C0C7

Q9Y6R9

Ensembl transtripts involved in fusion geneENST00000528950, ENST00000533727, 
ENST00000534300, ENST00000298834, 
ENST00000314845, ENST00000426438, 
ENST00000458649, ENST00000529963, 
ENST00000263284, ENST00000536603, 
ENST00000594087, ENST00000595358, 
ENST00000601763, 
Fusion gene scores* DoF score20 X 11 X 10=22004 X 4 X 4=64
# samples 265
** MAII scorelog2(26/2200*10)=-3.08091999538357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointAMBRA1(46615378)-CCDC61(46506266), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across AMBRA1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CCDC61 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LGGTCGA-DH-5142-01AAMBRA1chr11

46615378

-CCDC61chr19

46506266

+
ChimerDB4LGGTCGA-DH-5142AMBRA1chr11

46615378

-CCDC61chr19

46506266

+


Top

Fusion Gene ORF analysis for AMBRA1-CCDC61

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-3CDSENST00000528950ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-3CDSENST00000533727ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-3CDSENST00000534300ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000528950ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000528950ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000528950ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000533727ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000533727ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000533727ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000534300ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000534300ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-5UTRENST00000534300ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-intronENST00000528950ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-intronENST00000533727ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
5UTR-intronENST00000534300ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000298834ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000314845ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000426438ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000458649ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-3CDSENST00000529963ENST00000263284AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000298834ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000298834ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000298834ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000314845ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000314845ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000314845ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000426438ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000426438ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000426438ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000458649ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000458649ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000458649ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000529963ENST00000536603AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000529963ENST00000594087AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-5UTRENST00000529963ENST00000595358AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000298834ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000314845ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000426438ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000458649ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+
intron-intronENST00000529963ENST00000601763AMBRA1chr11

46615378

-CCDC61chr19

46506266

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for AMBRA1-CCDC61


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
AMBRA1chr1146615377-CCDC61chr1946506263+4.61E-101
AMBRA1chr1146615377-CCDC61chr1946506263+4.61E-101
AMBRA1chr1146615377-CCDC61chr1946506263+4.61E-101
AMBRA1chr1146615377-CCDC61chr1946506263+4.61E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for AMBRA1-CCDC61


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46615378/:46506266)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9C0C7

CCDC61

Q9Y6R9

FUNCTION: Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity). {ECO:0000250}.FUNCTION: Microtubule-binding centrosomal protein required for centriole cohesion, independently of the centrosome-associated protein/CEP250 and rootletin/CROCC linker (PubMed:31789463). In interphase, required for anchoring microtubule at the mother centriole subdistal appendages and for centrosome positioning (PubMed:31789463). During mitosis, may be involved in spindle assembly and chromatin alignment by regulating the organization of spindle microtubules into a symmetrical structure (PubMed:30354798). Has been proposed to play a role in CEP170 recruitment to centrosomes (PubMed:30354798). However, this function could not be confirmed (PubMed:31789463). Plays a non-essential role in ciliogenesis (PubMed:31789463, PubMed:32375023). {ECO:0000269|PubMed:30354798, ECO:0000269|PubMed:31789463, ECO:0000269|PubMed:32375023}.

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


Top

Fusion Gene Sequence for AMBRA1-CCDC61


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis 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


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


Top

Related Drugs for AMBRA1-CCDC61


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for AMBRA1-CCDC61


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