FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 26532

FusionGeneSummary for PDLIM5_HIRA

check button Fusion gene summary
Fusion gene informationFusion gene name: PDLIM5_HIRA
Fusion gene ID: 26532
HgeneTgene
Gene symbol

PDLIM5

HIRA

Gene ID

10611

7290

Gene namePDZ and LIM domain 5histone cell cycle regulator
SynonymsENH|ENH1|L9|LIMDGCR1|TUP1|TUPLE1
Cytomap

4q22.3

22q11.21

Type of geneprotein-codingprotein-coding
DescriptionPDZ and LIM domain protein 5enigma homologenigma-like LIM domain proteinenigma-like PDZ and LIM domains proteinprotein HIRADiGeorge critical region gene 1HIR histone cell cycle regulation defective homolog ATUP1-like enhancer of split protein 1
Modification date2018052220180523
UniProtAcc

Q96HC4

P54198

Ensembl transtripts involved in fusion geneENST00000450793, ENST00000538141, 
ENST00000380180, ENST00000318007, 
ENST00000437932, ENST00000317968, 
ENST00000542407, ENST00000508216, 
ENST00000514743, ENST00000380176, 
ENST00000359265, ENST00000512274, 
ENST00000504489, 		ENST00000340170, 
ENST00000263208, ENST00000541063, 
ENST00000546308, ENST00000464189, 
Fusion gene scores* DoF score14 X 14 X 6=11769 X 8 X 4=288
# samples 159
** MAII scorelog2(15/1176*10)=-2.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PDLIM5 [Title/Abstract] AND HIRA [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
TgeneHIRA

GO:0006336

DNA replication-independent nucleosome assembly

14718166


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
ChiTaRS3.1BX106213PDLIM5chr4

95565625

+HIRAchr22

19430139

-
* 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-intronENST00000450793ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000450793ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000450793ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000450793ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000450793ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000538141ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000538141ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000538141ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000538141ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000538141ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380180ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380180ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380180ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380180ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380180ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000318007ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000318007ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000318007ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000318007ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000318007ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000437932ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000437932ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000437932ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000437932ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000437932ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000317968ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000317968ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000317968ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000317968ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000317968ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000542407ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000542407ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000542407ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000542407ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000542407ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000508216ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000508216ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000508216ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000508216ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000508216ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000514743ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000514743ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000514743ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000514743ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000514743ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380176ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380176ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380176ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380176ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000380176ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000359265ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000359265ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000359265ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000359265ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000359265ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000512274ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000512274ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000512274ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000512274ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000512274ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000504489ENST00000340170PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000504489ENST00000263208PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000504489ENST00000541063PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000504489ENST00000546308PDLIM5chr4

95565625

+HIRAchr22

19430139

-
intron-intronENST00000504489ENST00000464189PDLIM5chr4

95565625

+HIRAchr22

19430139

-

Top

FusionProtFeatures for PDLIM5_HIRA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDLIM5

Q96HC4

HIRA

P54198

May play an important role in the heart development byscaffolding PKC to the Z-disk region. May play a role in theregulation of cardiomyocyte expansion. Overexpression promotes thedevelopment of heart hypertrophy. Contributes to the regulation ofdendritic spine morphogenesis in neurons. May restrainpostsynaptic growth of excitatory synapses (By similarity).{ECO:0000250}. Cooperates with ASF1A to promote replication-independentchromatin assembly. Required for the periodic repression ofhistone gene transcription during the cell cycle. Required for theformation of senescence-associated heterochromatin foci (SAHF) andefficient senescence-associated cell cycle exit.{ECO:0000269|PubMed:12370293, ECO:0000269|PubMed:14718166,ECO:0000269|PubMed:15621527}.

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


Top

FusionGeneSequence for PDLIM5_HIRA


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).

Top

FusionGenePPI for PDLIM5_HIRA


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


Top

RelatedDrugs for PDLIM5_HIRA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PDLIM5_HIRA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDLIM5C0005586Bipolar Disorder5PSYGENET
HgenePDLIM5C0036341Schizophrenia4PSYGENET
HgenePDLIM5C0041696Unipolar Depression4PSYGENET
HgenePDLIM5C1269683Major Depressive Disorder4PSYGENET
HgenePDLIM5C0151744Myocardial Ischemia1CTD_human
HgenePDLIM5C0221765Chronic schizophrenia1PSYGENET