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: 16066

FusionGeneSummary for HELQ_PKM

check button Fusion gene summary
Fusion gene informationFusion gene name: HELQ_PKM
Fusion gene ID: 16066
HgeneTgene
Gene symbol

HELQ

PKM

Gene ID

113510

5315

Gene namehelicase, POLQ likepyruvate kinase M1/2
SynonymsHEL308CTHBP|HEL-S-30|OIP3|PK3|PKM2|TCB|THBP1
Cytomap

4q21.23

15q23

Type of geneprotein-codingprotein-coding
Descriptionhelicase POLQ-likeDNA helicase HEL308POLQ-like helicasemus308-like helicasepyruvate kinase PKMOIP-3OPA-interacting protein 3PK, muscle typecytosolic thyroid hormone-binding proteinepididymis secretory protein Li 30p58pyruvate kinase 2/3pyruvate kinase isozymes M1/M2pyruvate kinase muscle isozymepyruvate kinase, muscle
Modification date2018051920180527
UniProtAcc

Q8TDG4

P14618

Ensembl transtripts involved in fusion geneENST00000295488, ENST00000510985, 
ENST00000440639, 		ENST00000319622, 
ENST00000565184, ENST00000389093, 
ENST00000335181, ENST00000568883, 
ENST00000449901, ENST00000565154, 
ENST00000568459, 
Fusion gene scores* DoF score1 X 1 X 1=120 X 23 X 3=1380
# samples 124
** MAII scorelog2(1/1*10)=3.32192809488736log2(24/1380*10)=-2.52356195605701
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HELQ [Title/Abstract] AND PKM [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
TgenePKM

GO:0012501

programmed cell death

17308100


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
ChiTaRS3.1AW391494HELQchr4

84346472

+PKMchr15

72491439

+
* 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-3UTRENST00000295488ENST00000319622HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000295488ENST00000565184HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000295488ENST00000389093HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000295488ENST00000335181HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000295488ENST00000568883HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000295488ENST00000449901HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000295488ENST00000565154HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000295488ENST00000568459HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000510985ENST00000319622HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000510985ENST00000565184HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000510985ENST00000389093HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000510985ENST00000335181HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000510985ENST00000568883HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000510985ENST00000449901HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000510985ENST00000565154HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000510985ENST00000568459HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000440639ENST00000319622HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000440639ENST00000565184HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000440639ENST00000389093HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000440639ENST00000335181HELQchr4

84346472

+PKMchr15

72491439

+
intron-3UTRENST00000440639ENST00000568883HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000440639ENST00000449901HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000440639ENST00000565154HELQchr4

84346472

+PKMchr15

72491439

+
intron-intronENST00000440639ENST00000568459HELQchr4

84346472

+PKMchr15

72491439

+

Top

FusionProtFeatures for HELQ_PKM


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

Q8TDG4

PKM

P14618

Single-stranded DNA-dependent ATPase and 5' to 3' DNAhelicase (PubMed:11751861). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates inFANCD2-mediated repair. Forms a complex with POLN polymerase thatparticipates in homologous recombination (HR) repair and isessential for cellular protection against DNA cross-links(PubMed:19995904). {ECO:0000269|PubMed:11751861,ECO:0000269|PubMed:19995904}.

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 HELQ_PKM


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 HELQ_PKM


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 HELQ_PKM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePKMP14618DB11638ArtenimolPyruvate kinase PKMsmall moleculeapproved|investigational

Top

RelatedDiseases for HELQ_PKM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePKMC0027626Neoplasm Invasiveness2CTD_human
TgenePKMC0024667Animal Mammary Neoplasms1CTD_human
TgenePKMC0024668Mammary Neoplasms, Experimental1CTD_human
TgenePKMC0029456Osteoporosis1CTD_human
TgenePKMC2239176Liver carcinoma1CTD_human