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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: 27246

FusionGeneSummary for PIN4_HDAC8

check button Fusion gene summary
Fusion gene informationFusion gene name: PIN4_HDAC8
Fusion gene ID: 27246
HgeneTgene
Gene symbol

PIN4

HDAC8

Gene ID

5303

55869

Gene namepeptidylprolyl cis/trans isomerase, NIMA-interacting 4histone deacetylase 8
SynonymsEPVH|PAR14|PAR17CDA07|CDLS5|HD8|HDACL1|MRXS6|RPD3|WTS
Cytomap

Xq13.1

Xq13.1

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-prolyl cis-trans isomerase NIMA-interacting 4PPIase PIN4eukaryotic parvulin homologhEPVHhPar14hPar17parvulinparvulin-14parvulin-17peptidyl-prolyl cis-trans isomerase Pin4peptidyl-prolyl cis/trans isomerase EPVHprotein (peptidylprolyl chistone deacetylase 8histone deacetylase-like 1
Modification date2018051920180519
UniProtAcc

Q9Y237

Q9BY41

Ensembl transtripts involved in fusion geneENST00000423432, ENST00000218432, 
ENST00000373669, 		ENST00000373583, 
ENST00000373573, ENST00000373589, 
ENST00000429103, ENST00000373571, 
ENST00000439122, ENST00000373560, 
ENST00000373559, ENST00000373561, 
ENST00000478743, ENST00000373556, 
ENST00000373554, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 2 X 4=32
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PIN4 [Title/Abstract] AND HDAC8 [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
TgeneHDAC8

GO:0031397

negative regulation of protein ubiquitination

16809764

TgeneHDAC8

GO:0031647

regulation of protein stability

16809764


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
TCGALDSTADTCGA-BR-7715-01APIN4chrX

71416754

+HDAC8chrX

71571688

-
* 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
5CDS-intronENST00000423432ENST00000373583PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373573PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373589PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000429103PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373571PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000439122PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373560PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373559PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373561PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000478743PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373556PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000423432ENST00000373554PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373583PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373573PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373589PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000429103PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373571PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000439122PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373560PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373559PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373561PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000478743PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373556PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000218432ENST00000373554PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373583PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373573PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373589PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000429103PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373571PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000439122PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373560PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373559PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373561PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000478743PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373556PIN4chrX

71416754

+HDAC8chrX

71571688

-
5CDS-intronENST00000373669ENST00000373554PIN4chrX

71416754

+HDAC8chrX

71571688

-

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FusionProtFeatures for PIN4_HDAC8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIN4

Q9Y237

HDAC8

Q9BY41


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 PIN4_HDAC8


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 PIN4_HDAC8


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
PIN4DNM1, SPTAN1, ASCC2, EZH2, FBL, EGFR, NDUFA7, DNAJC8, RRBP1, SLIRP, RPS19, TIMM44, DDX42, SRPRB, RAD21, NDUFA2, SCO2, VDAC3, UBE2S, MAGEA11, PNMA1, CEP72, FATE1, FAM9B, ZBTB9, SHMT2, CCT5, DYNC1H1, MARS, AIMP2, METTL13, RTFDC1, CHST15HDAC8MDC1, RUNX1T1, CBFA2T3, RTN1, CREB1, PPP1CC, ACTA1, ESRRA, HIST1H3A, HIST1H4A, PRKACA, HIST3H3, HIST4H4, SMG5, SMG6, HSPA4, HSP90AA1, STAG2, CHCHD3, CPNE3, ADD3, MME, NUP98, MDM1, SEC16A, CROCC, SMC1A, SMC3, SVIL, TPM3, TPM4, ZSCAN2, VPRBP, DDB1, UBXN1


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 PIN4_HDAC8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHDAC8Q9BY41DB01592IronHistone deacetylase 8small moleculeapproved
TgeneHDAC8Q9BY41DB01593ZincHistone deacetylase 8small moleculeapproved|investigational
TgeneHDAC8Q9BY41DB02546VorinostatHistone deacetylase 8small moleculeapproved|investigational

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RelatedDiseases for PIN4_HDAC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHDAC8C3550903CORNELIA DE LANGE SYNDROME 51UNIPROT