FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 41799

FusionGeneSummary for WDPCP_AMBRA1

check button Fusion gene summary
Fusion gene informationFusion gene name: WDPCP_AMBRA1
Fusion gene ID: 41799
HgeneTgene
Gene symbol

WDPCP

AMBRA1

Gene ID

51057

55626

Gene nameWD repeat containing planar cell polarity effectorautophagy and beclin 1 regulator 1
SynonymsBBS15|C2orf86|CHDTHP|CPLANE5|FRITZ|FRTZDCAF3|WDR94
Cytomap

2p15

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionWD repeat-containing and planar cell polarity effector protein fritz homologBardet-Biedl syndrome 15 proteinWD repeat-containing protein C2orf86ciliogenesis and planar polarity effector 5activating molecule in BECN1-regulated autophagy protein 1DDB1 and CUL4 associated factor 3WD repeat domain 94activating molecule in beclin-1-regulated autophagyautophagy/beclin-1 regulator 1
Modification date2018052320180523
UniProtAcc

O95876

Q9C0C7

Ensembl transtripts involved in fusion geneENST00000272321, ENST00000409199, 
ENST00000409120, ENST00000398544, 
ENST00000409562, ENST00000409835, 
ENST00000298834, ENST00000426438, 
ENST00000314845, ENST00000533727, 
ENST00000534300, ENST00000458649, 
ENST00000528950, ENST00000529963, 
Fusion gene scores* DoF score4 X 4 X 3=4810 X 9 X 8=720
# samples 414
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WDPCP [Title/Abstract] AND AMBRA1 [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
TgeneAMBRA1

GO:0000423

mitophagy

21753002

TgeneAMBRA1

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

21753002

TgeneAMBRA1

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
ChiTaRS3.1BF933577WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
* 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-intronENST00000272321ENST00000298834WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000426438WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000314845WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000533727WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000534300WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000458649WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000528950WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000272321ENST00000529963WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000298834WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000426438WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000314845WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000533727WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000534300WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000458649WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000528950WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409199ENST00000529963WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000298834WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000426438WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000314845WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000533727WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000534300WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000458649WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000528950WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409120ENST00000529963WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000298834WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000426438WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000314845WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000533727WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000534300WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000458649WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000528950WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000398544ENST00000529963WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000298834WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000426438WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000314845WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000533727WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000534300WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000458649WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000528950WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409562ENST00000529963WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000298834WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000426438WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000314845WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000533727WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000534300WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000458649WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000528950WDPCPchr2

63530850

+AMBRA1chr11

46542555

+
intron-intronENST00000409835ENST00000529963WDPCPchr2

63530850

+AMBRA1chr11

46542555

+

Top

FusionProtFeatures for WDPCP_AMBRA1


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

O95876

AMBRA1

Q9C0C7

Probable effector of the planar cell polarity signalingpathway which regulates the septin cytoskeleton in bothciliogenesis and collective cell movements. Together with FUZ andWDPCP proposed to function as core component of the CPLANE(ciliogenesis and planar polarity effectors) complex involved inthe recruitment of peripheral IFT-A proteins to basal bodies (Bysimilarity). {ECO:0000250|UniProtKB:Q32NR9,ECO:0000250|UniProtKB:Q8C456}. 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


Top

FusionGeneSequence for WDPCP_AMBRA1


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).

Top

FusionGenePPI for WDPCP_AMBRA1


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

RelatedDrugs for WDPCP_AMBRA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for WDPCP_AMBRA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneWDPCPC1857587Orstavik Lindemann Solberg syndrome1UNIPROT
TgeneAMBRA1C0036341Schizophrenia1PSYGENET