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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: 15895

FusionGeneSummary for HCFC1_VGLL1

check button Fusion gene summary
Fusion gene informationFusion gene name: HCFC1_VGLL1
Fusion gene ID: 15895
HgeneTgene
Gene symbol

HCFC1

VGLL1

Gene ID

3054

51442

Gene namehost cell factor C1vestigial like family member 1
SynonymsCFF|HCF|HCF-1|HCF1|HFC1|MRX3|PPP1R89|VCAFTDU|VGL1
Cytomap

Xq28

Xq26.3

Type of geneprotein-codingprotein-coding
Descriptionhost cell factor 1VP16-accessory proteinprotein phosphatase 1, regulatory subunit 89transcription cofactor vestigial-like protein 1TONDUWUGSC:H_GS188P18.1bvestigial like 1vgl-1
Modification date2018052220180523
UniProtAcc

P51610

Q99990

Ensembl transtripts involved in fusion geneENST00000310441, ENST00000369984, 
ENST00000354233, ENST00000461098, 
ENST00000370634, ENST00000470358, 
Fusion gene scores* DoF score6 X 7 X 4=1681 X 1 X 1=1
# samples 71
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: HCFC1 [Title/Abstract] AND VGLL1 [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
HgeneHCFC1

GO:0006355

regulation of transcription, DNA-templated

12670868

HgeneHCFC1

GO:0010628

positive regulation of gene expression

21285374

HgeneHCFC1

GO:0043254

regulation of protein complex assembly

10675337

HgeneHCFC1

GO:0043981

histone H4-K5 acetylation

20018852

HgeneHCFC1

GO:0043982

histone H4-K8 acetylation

20018852

HgeneHCFC1

GO:0043984

histone H4-K16 acetylation

20018852

HgeneHCFC1

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
ChiTaRS3.1H12693HCFC1chrX

153221743

-VGLL1chrX

135638667

+
* 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-3CDSENST00000310441ENST00000370634HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3UTRENST00000310441ENST00000470358HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3CDSENST00000369984ENST00000370634HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3UTRENST00000369984ENST00000470358HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3CDSENST00000354233ENST00000370634HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3UTRENST00000354233ENST00000470358HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3CDSENST00000461098ENST00000370634HCFC1chrX

153221743

-VGLL1chrX

135638667

+
intron-3UTRENST00000461098ENST00000470358HCFC1chrX

153221743

-VGLL1chrX

135638667

+

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FusionProtFeatures for HCFC1_VGLL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HCFC1

P51610

VGLL1

Q99990

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}. May act as a specific coactivator for the mammalianTEFs. {ECO:0000269|PubMed:10518497}.

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 HCFC1_VGLL1


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 HCFC1_VGLL1


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


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 HCFC1_VGLL1


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 HCFC1_VGLL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHCFC1C0023903Liver neoplasms1CTD_human
HgeneHCFC1C0796208MENTAL RETARDATION, X-LINKED 31ORPHANET;UNIPROT