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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: 18617

FusionGeneSummary for KIAA0753_PHF23

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0753_PHF23
Fusion gene ID: 18617
HgeneTgene
Gene symbol

KIAA0753

PHF23

Gene ID

9851

79142

Gene nameKIAA0753PHD finger protein 23
SynonymsMNR|OFIPhJUNE-1b
Cytomap

17p13.1

17p13.1

Type of geneprotein-codingprotein-coding
Descriptionprotein moonrakerOFD1 and FOPNL interacting proteinPHD finger protein 23PDH-containing protein JUNE-1PHD finger protein 23a
Modification date2018051920180523
UniProtAcc

Q2KHM9

Q9BUL5

Ensembl transtripts involved in fusion geneENST00000361413, ENST00000542606, 
ENST00000572370, ENST00000589033, 
ENST00000575027, 
ENST00000320316, 
ENST00000571362, ENST00000576955, 
ENST00000454255, ENST00000570753, 
Fusion gene scores* DoF score4 X 3 X 2=242 X 2 X 2=8
# samples 42
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: KIAA0753 [Title/Abstract] AND PHF23 [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

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
TCGALDBRCATCGA-D8-A1JL-01AKIAA0753chr17

6543957

-PHF23chr17

7140979

-
* 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-3CDSENST00000361413ENST00000320316KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-3CDSENST00000361413ENST00000571362KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-intronENST00000361413ENST00000576955KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-intronENST00000361413ENST00000454255KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-5UTRENST00000361413ENST00000570753KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-3CDSENST00000542606ENST00000320316KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-3CDSENST00000542606ENST00000571362KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-intronENST00000542606ENST00000576955KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-intronENST00000542606ENST00000454255KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-5UTRENST00000542606ENST00000570753KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-3CDSENST00000572370ENST00000320316KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-3CDSENST00000572370ENST00000571362KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-intronENST00000572370ENST00000576955KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-intronENST00000572370ENST00000454255KIAA0753chr17

6543957

-PHF23chr17

7140979

-
5UTR-5UTRENST00000572370ENST00000570753KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-3CDSENST00000589033ENST00000320316KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-3CDSENST00000589033ENST00000571362KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-intronENST00000589033ENST00000576955KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-intronENST00000589033ENST00000454255KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-5UTRENST00000589033ENST00000570753KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-3CDSENST00000575027ENST00000320316KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-3CDSENST00000575027ENST00000571362KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-intronENST00000575027ENST00000576955KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-intronENST00000575027ENST00000454255KIAA0753chr17

6543957

-PHF23chr17

7140979

-
intron-5UTRENST00000575027ENST00000570753KIAA0753chr17

6543957

-PHF23chr17

7140979

-

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FusionProtFeatures for KIAA0753_PHF23


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0753

Q2KHM9

PHF23

Q9BUL5

Involved in centriole duplication. Positively regulatesCEP63 centrosomal localization. Required for WDR62 centrosomallocalization and promotes the centrosomal localization of CDK2(PubMed:24613305, PubMed:26297806). {ECO:0000269|PubMed:26297806}. Acts as a negative regulator of autophagy, throughpromoting ubiquitination and degradation of LRSAM1, an E3ubiquitin ligase that promotes autophagy in response to starvationor infecting bacteria. {ECO:0000269|PubMed:25484098}.

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 KIAA0753_PHF23


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 KIAA0753_PHF23


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
KIAA0753SAV1, TEAD4, CT55, GCC1, USHBP1, FAM161A, ZNF114, CEP63, CEP152, STIP1, MAP7D3, CDK1, CEP55, PIBF1, OFD1, CKAP2, GTSE1, STUB1, PJA2, ABLIM1, MPHOSPH9, CCDC138, SPAG5, UBE2O, PJA1, MAGED1, KIZ, MAP7D2, FGFR1OP, CEP350, SQSTM1, DVL2, CEP131, KIAA0586, CEP72, CCDC15, PUM1, TRIM37, CCP110, GOPC, POC5, ALMS1, CSPP1, MED4, CEP162, CEP128, RPGRIP1L, LCA5, PCM1, SSX2IP, BAG2, CCDC77, CEP120, CEP170, DVL1, ECH1, FOPNL, HAUS2, HAUS6, HAUS8, LRRC49, MAP7, MAP7D1, MKL1, PLEKHA5, TPGS1, TBC1D31, WRAP73, CAMSAP1, CCDC14, CEP44, DNAJC7, ECD, HAUS1, HAUS3, HAUS4, HAUS5, KIF7, LTV1, LUZP1, MIS18A, NME7, SKA1, SKA2, SKA3, TCHP, TRIM36, TTK, UNC45A, WDR83, XRN1, CEP290, SPICE1, CEP135, CEP89, CNTRL, NINL, ODF2, CENPJ, CSNK1E, PPP2R3C, PTPN22, TPTE2, RNF19B, IKZF5PHF23PRSS23, HCCS, LRSAM1, ERBB2, STK11, FOXK2, SIN3A, SAP130, ARID4B, SIN3B, SAP30, SUDS3, BRMS1L


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 KIAA0753_PHF23


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 KIAA0753_PHF23


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