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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: 26886

FusionGeneSummary for PHC3_IFT122

check button Fusion gene summary
Fusion gene informationFusion gene name: PHC3_IFT122
Fusion gene ID: 26886
HgeneTgene
Gene symbol

PHC3

IFT122

Gene ID

80012

55764

Gene namepolyhomeotic homolog 3intraflagellar transport 122
SynonymsEDR3|HPH3CED|CED1|SPG|WDR10|WDR10p|WDR140
Cytomap

3q26.2

3q21.3-q22.1

Type of geneprotein-codingprotein-coding
Descriptionpolyhomeotic-like protein 3early development regulator 3early development regulatory protein 3homolog of polyhomeotic 3polyhomeotic like 3intraflagellar transport protein 122 homologWD repeat domain 10WD repeat-containing protein 10WD repeat-containing protein 140intraflagellar transport 122 homolog
Modification date2018051920180523
UniProtAcc

Q8NDX5

Q9HBG6

Ensembl transtripts involved in fusion geneENST00000495893, ENST00000494943, 
ENST00000467570, ENST00000474275, 
ENST00000497658, ENST00000481639, 
ENST00000347300, ENST00000296266, 
ENST00000507564, ENST00000431818, 
ENST00000504021, ENST00000349441, 
ENST00000348417, ENST00000440957, 
ENST00000513932, 
Fusion gene scores* DoF score10 X 9 X 7=6304 X 4 X 2=32
# samples 124
** MAII scorelog2(12/630*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHC3 [Title/Abstract] AND IFT122 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TCGALDLUSCTCGA-63-A5MW-01APHC3chr3

169863211

-IFT122chr3

129182403

+
* 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
Frame-shiftENST00000495893ENST00000347300PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000495893ENST00000296266PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000495893ENST00000507564PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000495893ENST00000431818PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000495893ENST00000504021PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000495893ENST00000349441PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000495893ENST00000348417PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000495893ENST00000440957PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-intronENST00000495893ENST00000513932PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000494943ENST00000347300PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000494943ENST00000296266PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000494943ENST00000507564PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000494943ENST00000431818PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000494943ENST00000504021PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000494943ENST00000349441PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000494943ENST00000348417PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000494943ENST00000440957PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-intronENST00000494943ENST00000513932PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000467570ENST00000347300PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000467570ENST00000296266PHC3chr3

169863211

-IFT122chr3

129182403

+
Frame-shiftENST00000467570ENST00000507564PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000467570ENST00000431818PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000467570ENST00000504021PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000467570ENST00000349441PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000467570ENST00000348417PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-5UTRENST00000467570ENST00000440957PHC3chr3

169863211

-IFT122chr3

129182403

+
5CDS-intronENST00000467570ENST00000513932PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000474275ENST00000347300PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000474275ENST00000296266PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000474275ENST00000507564PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000474275ENST00000431818PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000474275ENST00000504021PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000474275ENST00000349441PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000474275ENST00000348417PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000474275ENST00000440957PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-intronENST00000474275ENST00000513932PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000497658ENST00000347300PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000497658ENST00000296266PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000497658ENST00000507564PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000497658ENST00000431818PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000497658ENST00000504021PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000497658ENST00000349441PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000497658ENST00000348417PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000497658ENST00000440957PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-intronENST00000497658ENST00000513932PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000481639ENST00000347300PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000481639ENST00000296266PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-3CDSENST00000481639ENST00000507564PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000481639ENST00000431818PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000481639ENST00000504021PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000481639ENST00000349441PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000481639ENST00000348417PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-5UTRENST00000481639ENST00000440957PHC3chr3

169863211

-IFT122chr3

129182403

+
intron-intronENST00000481639ENST00000513932PHC3chr3

169863211

-IFT122chr3

129182403

+

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FusionProtFeatures for PHC3_IFT122


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHC3

Q8NDX5

IFT122

Q9HBG6


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 PHC3_IFT122


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 PHC3_IFT122


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
PHC3PCGF2, BMI1, RNF2, PHC1, PHC2, RING1, CBX2, CBX4, CBX6, CBX8, SCMH1, SCML1, ALB, SOX2, OGT, HIST3H3, EED, CBX7, DDI1, C11orf30, ZNF131, TRIM25IFT122C11orf74, IFT140, WDR35, SDF4, WDR19, IFT43, PIH1D1, GFOD1, NTRK1, DNAJC7, TULP3, TULP2, CRYL1, DEF8, PDDC1, ARHGEF16, IARS2, TTC21B, PFKP, CDC7, NDUFAF3, CCDC40, NEK7


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 PHC3_IFT122


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 PHC3_IFT122


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIFT122C0008780Ciliary Motility Disorders1CTD_human
TgeneIFT122C0010278Craniosynostosis1CTD_human
TgeneIFT122C0013608Edema, Cardiac1CTD_human
TgeneIFT122C0015393Eye Abnormalities1CTD_human
TgeneIFT122C0020255Hydrocephalus1CTD_human
TgeneIFT122C0022658Kidney Diseases1CTD_human
TgeneIFT122C0037932Curvature of spine1CTD_human
TgeneIFT122C0432235Cranioectodermal Dysplasia1CTD_human;ORPHANET;UNIPROT