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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: 1591

FusionGeneSummary for AMBRA1_CKAP5

check button Fusion gene summary
Fusion gene informationFusion gene name: AMBRA1_CKAP5
Fusion gene ID: 1591
HgeneTgene
Gene symbol

AMBRA1

CKAP5

Gene ID

55626

9793

Gene nameautophagy and beclin 1 regulator 1cytoskeleton associated protein 5
SynonymsDCAF3|WDR94CHTOG|MSPS|TOG|TOGp|ch-TOG
Cytomap

11p11.2

11p11.2

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 1cytoskeleton-associated protein 5colonic and hepatic tumor over-expressed gene proteincolonic and hepatic tumor overexpressed gene protein
Modification date2018052320180523
UniProtAcc

Q9C0C7

Q14008

Ensembl transtripts involved in fusion geneENST00000298834, ENST00000426438, 
ENST00000314845, ENST00000533727, 
ENST00000534300, ENST00000458649, 
ENST00000528950, ENST00000529963, 
ENST00000529230, ENST00000415402, 
ENST00000312055, ENST00000354558, 
ENST00000532321, 
Fusion gene scores* DoF score10 X 5 X 13=6508 X 8 X 5=320
# samples 1810
** MAII scorelog2(18/650*10)=-1.85244281158614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/320*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMBRA1 [Title/Abstract] AND CKAP5 [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
TCGARVBLCATCGA-E7-A5KE-01AAMBRA1chr11

46615378

-CKAP5chr11

46806223

-
* 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-3CDSENST00000298834ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000298834ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000298834ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000298834ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-intronENST00000298834ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000426438ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000426438ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000426438ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000426438ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-intronENST00000426438ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000314845ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000314845ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000314845ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000314845ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-intronENST00000314845ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000533727ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000533727ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000533727ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000533727ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-intronENST00000533727ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000534300ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000534300ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000534300ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000534300ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-intronENST00000534300ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000458649ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000458649ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000458649ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000458649ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-intronENST00000458649ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000528950ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000528950ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000528950ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-3CDSENST00000528950ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
5UTR-intronENST00000528950ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000529963ENST00000529230AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000529963ENST00000415402AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000529963ENST00000312055AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-3CDSENST00000529963ENST00000354558AMBRA1chr11

46615378

-CKAP5chr11

46806223

-
intron-intronENST00000529963ENST00000532321AMBRA1chr11

46615378

-CKAP5chr11

46806223

-

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FusionProtFeatures for AMBRA1_CKAP5


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

Q9C0C7

CKAP5

Q14008

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}. Binds to the plus end of microtubules and regulatesmicrotubule dynamics and microtubule organization. Acts asprocessive microtubule polymerase. Promotes cytoplasmicmicrotubule nucleation and elongation. Plays a major role inorganizing spindle poles. In spindle formation protectskinetochore microtubules from depolymerization by KIF2C and has anessential role in centrosomal microtubule assembly independentlyof KIF2C activity. Contributes to centrosome integrity. Acts ascomponent of the TACC3/ch-TOG/clathrin complex proposed tocontribute to stabilization of kinetochore fibers of the mitoticspindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance ofkinetochore fiber tension (PubMed:23532825). Enhances the strengthof NDC80 complex-mediated kinetochore-tip microtubule attachments(PubMed:27156448). {ECO:0000269|PubMed:12569123,ECO:0000269|PubMed:18809577, ECO:0000269|PubMed:21297582,ECO:0000269|PubMed:21646404, ECO:0000269|PubMed:23532825,ECO:0000269|PubMed:27156448, ECO:0000269|PubMed:9570755}.

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_CKAP5


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_CKAP5


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, TRIM25CKAP5TACC1, MEPCE, CDK9, CACNA1A, CKAP5, SLAIN2, SNW1, TACC3, TACC2, PTPRN2, SIRT7, TFAP4, USP21, GRK5, TOP1, FN1, USP19, BAG3, FBXO6, SHFM1, RPA3, RPA2, RPA1, HAUS2, CCDC8, EED, AUP1, KLHL20, SPINT2, LYPD3, CYP1A1, UNK, DHX29, EIF2D, ELAC2, HARS, SRCIN1, ZNHIT2, INTS2, MAPRE1, MAPRE3, NTRK1, IFI16, BTRC, MED4, CLK1, CEP162, CEP128, CNTRL, NINL, AHSA1, ACADVL, XIAP, DHCR24, H3F3A, HSPA5, LDHA, LDHB, MAPT, PFKM, MRPS12, RPS16, RPS17, TAP2, TOP2A, ZNHIT3, AKAP1, INTS7, ACAD8, TRMT6, KLHL7, DDX31, DOT1L, PRKCDBP, CCNYL1, PTRF, FOXL1, NF2, CDC5L, NDC80, CDH1, POTEB3, ALOX5, EPHA1, TMEM206, SDC2, KLHL40, KIAA1467, HSPA8, CEP83, SNRNP27, HSPA9, BRCA1


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_CKAP5


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_CKAP5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAMBRA1C0036341Schizophrenia1PSYGENET
TgeneCKAP5C0002938Aneuploidy1CTD_human
TgeneCKAP5C1257806Chromosomal Instability1CTD_human