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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: 27820

FusionGeneSummary for PNCK_HCFC1

check button Fusion gene summary
Fusion gene informationFusion gene name: PNCK_HCFC1
Fusion gene ID: 27820
HgeneTgene
Gene symbol

PNCK

HCFC1

Gene ID

139728

3054

Gene namepregnancy up-regulated nonubiquitous CaM kinasehost cell factor C1
SynonymsBSTK3|CaMK1bCFF|HCF|HCF-1|HCF1|HFC1|MRX3|PPP1R89|VCAF
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
Descriptioncalcium/calmodulin-dependent protein kinase type 1BcaM kinase I betacaM kinase IBcaM-KI betacaMKI-betapregnancy up-regulated non-ubiquitously-expressed CaM kinasepregnancy upregulated non-ubiquitously expressed CaM kinasehost cell factor 1VP16-accessory proteinprotein phosphatase 1, regulatory subunit 89
Modification date2018052320180522
UniProtAcc

Q6P2M8

P51610

Ensembl transtripts involved in fusion geneENST00000340888, ENST00000370150, 
ENST00000393831, ENST00000370142, 
ENST00000370145, ENST00000447676, 
ENST00000475172, 
ENST00000310441, 
ENST00000369984, ENST00000354233, 
ENST00000461098, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 5 X 2=40
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/40*10)=0.584962500721156
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PNCK [Title/Abstract] AND HCFC1 [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
TgeneHCFC1

GO:0006355

regulation of transcription, DNA-templated

12670868

TgeneHCFC1

GO:0010628

positive regulation of gene expression

21285374

TgeneHCFC1

GO:0043254

regulation of protein complex assembly

10675337

TgeneHCFC1

GO:0043981

histone H4-K5 acetylation

20018852

TgeneHCFC1

GO:0043982

histone H4-K8 acetylation

20018852

TgeneHCFC1

GO:0043984

histone H4-K16 acetylation

20018852

TgeneHCFC1

GO:0050821

protein stabilization

21285374


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-C8-A12Q-01APNCKchrX

152952886

-HCFC1chrX

153230177

-
* 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-3CDSENST00000340888ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000340888ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000340888ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000340888ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370150ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370150ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370150ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000370150ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000393831ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000393831ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000393831ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000393831ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370142ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370142ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370142ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000370142ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370145ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370145ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000370145ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000370145ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000447676ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000447676ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000447676ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000447676ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000475172ENST00000310441PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000475172ENST00000369984PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-3CDSENST00000475172ENST00000354233PNCKchrX

152952886

-HCFC1chrX

153230177

-
intron-intronENST00000475172ENST00000461098PNCKchrX

152952886

-HCFC1chrX

153230177

-

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FusionProtFeatures for PNCK_HCFC1


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

Q6P2M8

HCFC1

P51610

Calcium/calmodulin-dependent protein kinase belonging toa proposed calcium-triggered signaling cascade. In vitrophosphorylates CREB1 and SYN1/synapsin I. Phosphorylates andactivates CAMK1 (By similarity). {ECO:0000250}. Involved in control of the cell cycle (PubMed:10629049,PubMed:10779346, PubMed:15190068, PubMed:16624878,PubMed:23629655). Also antagonizes transactivation by ZBTB17 andGABP2; represses ZBTB17 activation of the p15(INK4b) promoter andinhibits its ability to recruit p300 (PubMed:10675337,PubMed:12244100). Coactivator for EGR2 and GABP2 (PubMed:12244100,PubMed:14532282). Tethers the chromatin modifying Set1/Ash2histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histonedeacetylase (HDAC) complexes (involved in the activation andrepression of transcription, respectively) together(PubMed:12670868). Component of a THAP1/THAP3-HCFC1-OGT complexthat is required for the regulation of the transcriptionalactivity of RRM1 (PubMed:20200153). As part of the NSL complex itmay be involved in acetylation of nucleosomal histone H4 onseveral lysine residues (PubMed:20018852). Recruits KMT2E/MLL5 toE2F1 responsive promoters promoting transcriptional activation andthereby facilitates G1 to S phase transition (PubMed:23629655).{ECO:0000269|PubMed:10629049, ECO:0000269|PubMed:10675337,ECO:0000269|PubMed:10779346, ECO:0000269|PubMed:12244100,ECO:0000269|PubMed:12670868, ECO:0000269|PubMed:14532282,ECO:0000269|PubMed:15190068, ECO:0000269|PubMed:16624878,ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:20200153,ECO:0000269|PubMed:23629655}. (Microbial infection) In case of human herpes simplexvirus (HSV) infection, HCFC1 forms a multiprotein-DNA complex withthe viral transactivator protein VP16 and POU2F1 thereby enablingthe transcription of the viral immediate early genes.{ECO:0000269|PubMed:10629049, ECO:0000269|PubMed:17578910}.

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 PNCK_HCFC1


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 PNCK_HCFC1


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
PNCKPTPN11HCFC1GABPA, KMT2A, HCFC2, MEN1, RBBP5, WDR5, ASH2L, SIN3A, EGR2, HDAC1, HDAC2, SUDS3, RBBP4, RBBP7, SETD1A, ASCL2, OGT, HSP90AA1, HSPA4, HSPA8, SP1, SIN3B, PDCD2, CREB3, CREBZF, PPP1CA, PPARGC1A, HCFC1R1, POU2F1, ZBTB17, BAP1, USP53, POLR2J, THAP3, THAP1, ASF1B, ZNF335, NFE2L1, THAP7, KAT8, USF1, E2F1, E2F3, E2F4, PHF8, WDR82, HDAC5, IRF1, IRF2, THAP11, YY1, SNRPB, SNRPN, ELAVL1, SIRT7, NR2C1, CUL3, CDK2, HCFC1, CLP1, EGFR, PPP1CB, DPY30, MAP3K7, NOTCH1, LMNA, EEF1D, RPA3, RPA2, RPA1, NUDCD3, FBXW11, CXXC1, NCOA6, EED, BTRC, THAP2, DDAH2, ALDOC, EEF2, PSMD7, TRIM28, NTRK1, DYNLT1, MPHOSPH8, FOXK1, FOXK2, FOXN2, ASXL1, ASXL2, KMT2E, KLF5, CDH1, CAMK2D, NFE2L3, FOXRED1, 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 PNCK_HCFC1


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 PNCK_HCFC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHCFC1C0023903Liver neoplasms1CTD_human
TgeneHCFC1C0796208MENTAL RETARDATION, X-LINKED 31ORPHANET;UNIPROT