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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: 26942

FusionGeneSummary for PHF21A_TMEM123

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF21A_TMEM123
Fusion gene ID: 26942
HgeneTgene
Gene symbol

PHF21A

TMEM123

Gene ID

51317

114908

Gene namePHD finger protein 21Atransmembrane protein 123
SynonymsBHC80|BM-006KCT3|PORIMIN|PORMIN
Cytomap

11p11.2

11q22.2

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 21ABHC80aBRAF35-HDAC complex protein BHC80BRAF35/HDAC2 complex (80 kDa)poriminKCT-3keratinocytes associated transmembrane protein 3pro-oncosis receptor inducing membrane injuryserine/threonine-rich receptor
Modification date2018052320180523
UniProtAcc

Q96BD5

Q8N131

Ensembl transtripts involved in fusion geneENST00000257821, ENST00000323180, 
ENST00000418153, ENST00000527753, 
ENST00000361236, ENST00000398136, 
ENST00000532161, ENST00000525577, 
Fusion gene scores* DoF score15 X 7 X 13=13655 X 4 X 2=40
# samples 195
** MAII scorelog2(19/1365*10)=-2.84482962747627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHF21A [Title/Abstract] AND TMEM123 [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
TgeneTMEM123

GO:0070267

oncosis

9600958|11481458


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
TCGALDCESCTCGA-EA-A411-01APHF21Achr11

46098305

-TMEM123chr11

102272937

-
* 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-shitENST00000257821ENST00000361236PHF21Achr11

46098305

-TMEM123chr11

102272937

-
Frame-shitENST00000257821ENST00000398136PHF21Achr11

46098305

-TMEM123chr11

102272937

-
5CDS-5UTRENST00000257821ENST00000532161PHF21Achr11

46098305

-TMEM123chr11

102272937

-
5CDS-5UTRENST00000257821ENST00000525577PHF21Achr11

46098305

-TMEM123chr11

102272937

-
Frame-shitENST00000323180ENST00000361236PHF21Achr11

46098305

-TMEM123chr11

102272937

-
Frame-shitENST00000323180ENST00000398136PHF21Achr11

46098305

-TMEM123chr11

102272937

-
5CDS-5UTRENST00000323180ENST00000532161PHF21Achr11

46098305

-TMEM123chr11

102272937

-
5CDS-5UTRENST00000323180ENST00000525577PHF21Achr11

46098305

-TMEM123chr11

102272937

-
Frame-shitENST00000418153ENST00000361236PHF21Achr11

46098305

-TMEM123chr11

102272937

-
Frame-shitENST00000418153ENST00000398136PHF21Achr11

46098305

-TMEM123chr11

102272937

-
5CDS-5UTRENST00000418153ENST00000532161PHF21Achr11

46098305

-TMEM123chr11

102272937

-
5CDS-5UTRENST00000418153ENST00000525577PHF21Achr11

46098305

-TMEM123chr11

102272937

-
intron-3CDSENST00000527753ENST00000361236PHF21Achr11

46098305

-TMEM123chr11

102272937

-
intron-3CDSENST00000527753ENST00000398136PHF21Achr11

46098305

-TMEM123chr11

102272937

-
intron-5UTRENST00000527753ENST00000532161PHF21Achr11

46098305

-TMEM123chr11

102272937

-
intron-5UTRENST00000527753ENST00000525577PHF21Achr11

46098305

-TMEM123chr11

102272937

-

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FusionProtFeatures for PHF21A_TMEM123


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF21A

Q96BD5

TMEM123

Q8N131

Component of the BHC complex, a corepressor complex thatrepresses transcription of neuron-specific genes in non-neuronalcells. The BHC complex is recruited at RE1/NRSE sites by REST andacts by deacetylating and demethylating specific sites onhistones, thereby acting as a chromatin modifier. In the BHCcomplex, it may act as a scaffold. Inhibits KDM1A-mediateddemethylation of 'Lys-4' of histone H3 in vitro, suggesting a rolein demethylation regulation. {ECO:0000269|PubMed:16140033}. Implicated in oncotic cell death, characterized by cellswelling, organelle swelling, vacuolization and increased membranepermeability. {ECO:0000269|PubMed:11481458}.

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 PHF21A_TMEM123


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 PHF21A_TMEM123


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
PHF21ALPXN, HDAC1, KDM1A, HMG20B, RCOR1, HDAC2, GTF2I, TAF10, ESCO2, HIST2H3C, ELAVL1, HIST3H3, FHL3, TRAF1, ZYX, NUP62, BANP, KRT40, SCLT1, CD14, KIF22, LLGL2, SOD1, MYH13, NUPL1, HMG20A, NAF1, IP6K3, RBPJ, EXOC1, MAX, ARNTL, RPRD1A, HAUS6, PHLDB3, PTRF, OIP5, CCDC93, CCDC132, DZIP3, GRIPAP1, VPS53, PSMD9, CLOCK, RABGAP1L, GOLGA5, TUFT1, YEATS4, CCHCR1, TFPT, NCKAP5L, PKN3, GIT2, RABGEF1, NUF2, THAP11, VPS51, JUN, TSSC1TMEM123MAGEA11, ELAVL1, WDFY1


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 PHF21A_TMEM123


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 PHF21A_TMEM123


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource