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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: 18628

FusionGeneSummary for KIAA0907_PHC1

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0907_PHC1
Fusion gene ID: 18628
HgeneTgene
Gene symbol

KIAA0907

PHC1

Gene ID

1911

Gene namepolyhomeotic homolog 1
SynonymsEDR1|HPH1|MCPH11|RAE28
Cytomap

12p13.31

Type of geneprotein-coding
Descriptionpolyhomeotic-like protein 1early development regulator 1 (homolog of polyhomeotic 1)early development regulatory protein 1polyhomeotic-like 1
Modification date20180519
UniProtAcc

P78364

Ensembl transtripts involved in fusion geneENST00000368321, ENST00000368320, 
ENST00000368319, ENST00000482337, 
ENST00000543824, ENST00000433847, 
ENST00000433083, ENST00000544916, 
ENST00000536844, 
Fusion gene scores* DoF score10 X 10 X 9=9003 X 2 X 3=18
# samples 123
** MAII scorelog2(12/900*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KIAA0907 [Title/Abstract] AND PHC1 [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
TgenePHC1

GO:0016574

histone ubiquitination

23418308


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-A7-A6VX-01AKIAA0907chr1

155903424

-PHC1chr12

9070226

+
* 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
5CDS-5UTRENST00000368321ENST00000543824KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-3UTRENST00000368321ENST00000433847KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368321ENST00000433083KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368321ENST00000544916KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368321ENST00000536844KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368320ENST00000543824KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-3UTRENST00000368320ENST00000433847KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368320ENST00000433083KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368320ENST00000544916KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368320ENST00000536844KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368319ENST00000543824KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-3UTRENST00000368319ENST00000433847KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368319ENST00000433083KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368319ENST00000544916KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5CDS-5UTRENST00000368319ENST00000536844KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5UTR-5UTRENST00000482337ENST00000543824KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5UTR-3UTRENST00000482337ENST00000433847KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5UTR-5UTRENST00000482337ENST00000433083KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5UTR-5UTRENST00000482337ENST00000544916KIAA0907chr1

155903424

-PHC1chr12

9070226

+
5UTR-5UTRENST00000482337ENST00000536844KIAA0907chr1

155903424

-PHC1chr12

9070226

+

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FusionProtFeatures for KIAA0907_PHC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0907

PHC1

P78364

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility. Required for propercontrol of cellular levels of GMNN expression.{ECO:0000269|PubMed:23418308}.

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 KIAA0907_PHC1


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 KIAA0907_PHC1


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
KIAA0907U2AF2, PRPF19, CDC5L, EXOC3, RBM39, PUF60, SHMT2, MOV10, NXF1, ZDHHC17, STARD7, NECAP1, UBE2M, EWSR1, SERPINB5, CALML5, IGHG2, IGKC, SERPINB2, TYMP, S100A7, TRIM29, CALML3, TRIM25PHC1SFMBT1, UBE2I, PHC2, CBX4, BMI1, RING1, PCGF2, PPP1CA, ELAVL1, RNF2, PHC3, CBX2, CBX6, CBX8, SCMH1, SCML1, HDAC2, PPP1CC, PHC1, SIAH1, SP100, SUMO1, PIAS2, ZCCHC7, SUMO1P1, EED, HIST1H2BG, NANOG, NPTXR, CBX7, SFMBT2, COMMD3-BMI1, CSNK2A1, TRPM3


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 KIAA0907_PHC1


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 KIAA0907_PHC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHC1C0027658Neoplasms, Germ Cell and Embryonal1CTD_human
TgenePHC1C3809431MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE1UNIPROT