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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: 26931

FusionGeneSummary for PHF21A_AMBRA1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF21A_AMBRA1
Fusion gene ID: 26931
HgeneTgene
Gene symbol

PHF21A

AMBRA1

Gene ID

51317

55626

Gene namePHD finger protein 21Aautophagy and beclin 1 regulator 1
SynonymsBHC80|BM-006DCAF3|WDR94
Cytomap

11p11.2

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 21ABHC80aBRAF35-HDAC complex protein BHC80BRAF35/HDAC2 complex (80 kDa)activating 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

Q96BD5

Q9C0C7

Ensembl transtripts involved in fusion geneENST00000257821, ENST00000323180, 
ENST00000418153, ENST00000527753, 
ENST00000298834, ENST00000426438, 
ENST00000314845, ENST00000533727, 
ENST00000534300, ENST00000458649, 
ENST00000528950, ENST00000529963, 
Fusion gene scores* DoF score15 X 7 X 13=136510 X 9 X 8=720
# samples 1914
** MAII scorelog2(19/1365*10)=-2.84482962747627
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: PHF21A [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
TCGARVLUADTCGA-91-8499-01APHF21Achr11

46113734

-AMBRA1chr11

46515754

-
TCGARVLUSCTCGA-L3-A524-01APHF21Achr11

46139473

-AMBRA1chr11

46570050

-
TCGARVSTADTCGA-BR-4357-01APHF21Achr11

46098305

-AMBRA1chr11

46529920

-
* 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-3CDSENST00000257821ENST00000298834PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000257821ENST00000426438PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000257821ENST00000314845PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000257821ENST00000533727PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000257821ENST00000534300PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000257821ENST00000458649PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000257821ENST00000528950PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-5UTRENST00000257821ENST00000529963PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000298834PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000426438PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000314845PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000533727PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000534300PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000458649PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000323180ENST00000528950PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-5UTRENST00000323180ENST00000529963PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000298834PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000426438PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000314845PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000533727PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000534300PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000458649PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-3CDSENST00000418153ENST00000528950PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
5UTR-5UTRENST00000418153ENST00000529963PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000298834PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000426438PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000314845PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000533727PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000534300PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000458649PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-3CDSENST00000527753ENST00000528950PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-5UTRENST00000527753ENST00000529963PHF21Achr11

46113734

-AMBRA1chr11

46515754

-
intron-5UTRENST00000257821ENST00000298834PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000257821ENST00000426438PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000257821ENST00000314845PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000257821ENST00000533727PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000257821ENST00000534300PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000257821ENST00000458649PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000257821ENST00000528950PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000257821ENST00000529963PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000323180ENST00000298834PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000323180ENST00000426438PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000323180ENST00000314845PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000323180ENST00000533727PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000323180ENST00000534300PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000323180ENST00000458649PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000323180ENST00000528950PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000323180ENST00000529963PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000418153ENST00000298834PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000418153ENST00000426438PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000418153ENST00000314845PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000418153ENST00000533727PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000418153ENST00000534300PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000418153ENST00000458649PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000418153ENST00000528950PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000418153ENST00000529963PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000527753ENST00000298834PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000527753ENST00000426438PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000527753ENST00000314845PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000527753ENST00000533727PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000527753ENST00000534300PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-5UTRENST00000527753ENST00000458649PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000527753ENST00000528950PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
intron-intronENST00000527753ENST00000529963PHF21Achr11

46139473

-AMBRA1chr11

46570050

-
5CDS-intronENST00000257821ENST00000298834PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000426438PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000314845PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000533727PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000534300PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000458649PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000528950PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000257821ENST00000529963PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000298834PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000426438PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000314845PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000533727PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000534300PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000458649PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000528950PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000323180ENST00000529963PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000298834PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000426438PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000314845PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000533727PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000534300PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000458649PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000528950PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
5CDS-intronENST00000418153ENST00000529963PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000298834PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000426438PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000314845PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000533727PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000534300PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000458649PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000528950PHF21Achr11

46098305

-AMBRA1chr11

46529920

-
intron-intronENST00000527753ENST00000529963PHF21Achr11

46098305

-AMBRA1chr11

46529920

-

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FusionProtFeatures for PHF21A_AMBRA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF21A

Q96BD5

AMBRA1

Q9C0C7

Component of the BHC complex, a corepressor complex thatrepresses transcription of neuron-specific genes in non-neuronalcells. The BHC complex is recruited at RE1/NRSE sites by REST andacts by deacetylating and demethylating specific sites onhistones, thereby acting as a chromatin modifier. In the BHCcomplex, it may act as a scaffold. Inhibits KDM1A-mediateddemethylation of 'Lys-4' of histone H3 in vitro, suggesting a rolein demethylation regulation. {ECO:0000269|PubMed:16140033}. 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 PHF21A_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).

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FusionGenePPI for PHF21A_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
PHF21ALPXN, HDAC1, KDM1A, HMG20B, RCOR1, HDAC2, GTF2I, TAF10, ESCO2, HIST2H3C, ELAVL1, HIST3H3, FHL3, TRAF1, ZYX, NUP62, BANP, KRT40, SCLT1, CD14, KIF22, LLGL2, SOD1, MYH13, NUPL1, HMG20A, NAF1, IP6K3, RBPJ, EXOC1, MAX, ARNTL, RPRD1A, HAUS6, PHLDB3, PTRF, OIP5, CCDC93, CCDC132, DZIP3, GRIPAP1, VPS53, PSMD9, CLOCK, RABGAP1L, GOLGA5, TUFT1, YEATS4, CCHCR1, TFPT, NCKAP5L, PKN3, GIT2, RABGEF1, NUF2, THAP11, VPS51, JUN, TSSC1AMBRA1USP50, 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, TRIM25


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 PHF21A_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

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RelatedDiseases for PHF21A_AMBRA1


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