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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: 26878

FusionGeneSummary for PHC1_SEC63

check button Fusion gene summary
Fusion gene informationFusion gene name: PHC1_SEC63
Fusion gene ID: 26878
HgeneTgene
Gene symbol

PHC1

SEC63

Gene ID

1911

11231

Gene namepolyhomeotic homolog 1SEC63 homolog, protein translocation regulator
SynonymsEDR1|HPH1|MCPH11|RAE28DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L
Cytomap

12p13.31

6q21

Type of geneprotein-codingprotein-coding
Descriptionpolyhomeotic-like protein 1early development regulator 1 (homolog of polyhomeotic 1)early development regulatory protein 1polyhomeotic-like 1translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein
Modification date2018051920180523
UniProtAcc

P78364

Q9UGP8

Ensembl transtripts involved in fusion geneENST00000543824, ENST00000433847, 
ENST00000433083, ENST00000544916, 
ENST00000536844, 
ENST00000369002, 
ENST00000460009, 
Fusion gene scores* DoF score2 X 2 X 2=830 X 6 X 14=2520
# samples 233
** MAII scorelog2(2/8*10)=1.32192809488736log2(33/2520*10)=-2.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHC1 [Title/Abstract] AND SEC63 [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
HgenePHC1

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
ChiTaRS3.1BC017748PHC1chr12

9093008

+SEC63chr6

108214835

-
* 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-3CDSENST00000543824ENST00000369002PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-intronENST00000543824ENST00000460009PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-3CDSENST00000433847ENST00000369002PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-intronENST00000433847ENST00000460009PHC1chr12

9093008

+SEC63chr6

108214835

-
3UTR-3CDSENST00000433083ENST00000369002PHC1chr12

9093008

+SEC63chr6

108214835

-
3UTR-intronENST00000433083ENST00000460009PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-3CDSENST00000544916ENST00000369002PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-intronENST00000544916ENST00000460009PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-3CDSENST00000536844ENST00000369002PHC1chr12

9093008

+SEC63chr6

108214835

-
intron-intronENST00000536844ENST00000460009PHC1chr12

9093008

+SEC63chr6

108214835

-

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FusionProtFeatures for PHC1_SEC63


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHC1

P78364

SEC63

Q9UGP8

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}. Required for integral membrane and secreted preproteintranslocation across the endoplasmic reticulum membrane.

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 PHC1_SEC63


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 PHC1_SEC63


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 PHC1_SEC63


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 PHC1_SEC63


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePHC1C0027658Neoplasms, Germ Cell and Embryonal1CTD_human
HgenePHC1C3809431MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE1UNIPROT
TgeneSEC63C0022680Polycystic Kidney Diseases1CTD_human
TgeneSEC63C0158683Polycystic liver disease1CTD_human;HPO;ORPHANET