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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: 16049

FusionGeneSummary for HECTD4_PEBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: HECTD4_PEBP1
Fusion gene ID: 16049
HgeneTgene
Gene symbol

HECTD4

PEBP1

Gene ID

283450

5037

Gene nameHECT domain E3 ubiquitin protein ligase 4phosphatidylethanolamine binding protein 1
SynonymsC12ord51|C12orf51|HEEL|POTAGEHCNP|HCNPpp|HEL-210|HEL-S-34|HEL-S-96|PBP|PEBP|PEBP-1|RKIP
Cytomap

12q24.13

12q24.23

Type of geneprotein-codingprotein-coding
Descriptionprobable E3 ubiquitin-protein ligase HECTD4AF-1 specific protein phosphataseHECT domain containing E3 ubiquitin protein ligase 4HECT domain-containing protein 4HECT-type E3 ubiquitin transferase HECTD4probable E3 ubiquitin-protein ligase C12orf51traphosphatidylethanolamine-binding protein 1Raf kinase inhibitory proteinepididymis luminal protein 210epididymis secretory protein Li 34epididymis secretory protein Li 96hippocampal cholinergic neurostimulating peptideneuropolypeptide h3prostatic bi
Modification date2018052220180523
UniProtAcc

Q9Y4D8

P30086

Ensembl transtripts involved in fusion geneENST00000377560, ENST00000430131, 
ENST00000550722, ENST00000549141, 
ENST00000261313, ENST00000542939, 
Fusion gene scores* DoF score15 X 9 X 9=12156 X 4 X 4=96
# samples 146
** MAII scorelog2(14/1215*10)=-3.11745758154818
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HECTD4 [Title/Abstract] AND PEBP1 [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

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
TCGALDLUSCTCGA-34-5232-01AHECTD4chr12

112743868

-PEBP1chr12

118575844

+
* 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-shiftENST00000377560ENST00000261313HECTD4chr12

112743868

-PEBP1chr12

118575844

+
5CDS-intronENST00000377560ENST00000542939HECTD4chr12

112743868

-PEBP1chr12

118575844

+
In-frameENST00000430131ENST00000261313HECTD4chr12

112743868

-PEBP1chr12

118575844

+
5CDS-intronENST00000430131ENST00000542939HECTD4chr12

112743868

-PEBP1chr12

118575844

+
Frame-shiftENST00000550722ENST00000261313HECTD4chr12

112743868

-PEBP1chr12

118575844

+
5CDS-intronENST00000550722ENST00000542939HECTD4chr12

112743868

-PEBP1chr12

118575844

+
intron-3CDSENST00000549141ENST00000261313HECTD4chr12

112743868

-PEBP1chr12

118575844

+
intron-intronENST00000549141ENST00000542939HECTD4chr12

112743868

-PEBP1chr12

118575844

+

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FusionProtFeatures for HECTD4_PEBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HECTD4

Q9Y4D8

PEBP1

P30086

Binds ATP, opioids and phosphatidylethanolamine. Haslower affinity for phosphatidylinositol and phosphatidylcholine.Serine protease inhibitor which inhibits thrombin, neuropsin andchymotrypsin but not trypsin, tissue type plasminogen activatorand elastase (By similarity). Inhibits the kinase activity of RAF1by inhibiting its activation and by dissociating the RAF1/MEKcomplex and acting as a competitive inhibitor of MEKphosphorylation. {ECO:0000250, ECO:0000269|PubMed:18294816}. HCNP may be involved in the function of the presynapticcholinergic neurons of the central nervous system. HCNP increasesthe production of choline acetyltransferase but notacetylcholinesterase. Seems to be mediated by a specific receptor(By similarity). {ECO:0000250}.

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 HECTD4_PEBP1


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.
>In-frame_HECTD4_ENST00000430131_chr12_112743868_-_PEBP1_ENST00000261313_chr12_118575844_+_194aa
MPANHLPIGSTMSTVHLSSDGTYFYWIWSPASLNEKTPKGHSVFMDIFELVVKNRPTSISWDGLDSGKLYTLVLTDPDAPSRKDPKYREW
HHFLVVNMKGNDISSGTVLSDYVGSGPPKGTGLHRYVWLVYEQDRPLKCDEPILSNRSGDHRGKFKVASFRKKYELRAPVAGTCYQAEWD


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_HECTD4_ENST00000430131_chr12_112743868_-_PEBP1_ENST00000261313_chr12_118575844_+_582nt
ATGCCAGCCAATCACCTCCCCATTGGCAGCACCATGAGCACTGTGCACCTGTCTTCAGATGGCACTTACTTCTATTGGATCTGGTCTCCT
GCCAGCCTGAATGAGAAAACACCGAAGGGACATTCTGTCTTCATGGACATTTTTGAACTTGTGGTTAAGAATAGACCCACCAGCATTTCG
TGGGATGGTCTTGATTCAGGGAAGCTCTACACCTTGGTCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGG
CATCATTTCCTGGTGGTCAACATGAAGGGCAATGACATCAGCAGTGGCACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGC
ACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGAC
CACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_HECTD4_ENST00000430131_chr12_112743868_-_PEBP1_ENST00000261313_chr12_118575844_+_2509nt
GCGGCCGCTGACTCGGCGCAGTGGCTCTCGGTGAAGGAAGAGACCATCTTCCTGCACGACGGGCTGATCCGGGTCACCGACCTGGCCGAG
CTGCCCAGCGAGATCCTCGGGGCCCCAGAGGCCGCGGACACCGACCTGGAGATTTTAACCTTTGAGACCAAGAACCCGTCGGAATTAGCA
GAACGTTTGCGCTCTGTTTGTGGGAATCAGAGCAATGCCTATGCCCGGCTGCTGGAATACCGCCTGAATGCCTTGCGAGGACTGTGGAAT
GCCCAGCGCCAGCTGGCCTTAGAAGAACAGCATGAAAGGGAAAGTTCAGGTGATGAGGAAACTTTGGCCCTGCTCAAACGCCAGGGCTTG
TTGCAGCAACCTGAGCAAGCGCCCTTCACATCGAGGATGGGGCTCCTGCTGGTCTTCCCCCTTATTCAGTCCCAGAGTAGAACAGACCCC
TCTCTCTGTAACATAACTGCTGAGGTGCTATTGAACTGCCTTCGTGACTGCCAGCCTTTGAGCTTGACCAAGGAGCCTGCTGACTGTCTC
AATGGAATTGAAACTTTGCTGTGCTCTTGGCTAGAGGAGACTTCTGACACAGGCCGACACATCCCACATAAGCAAAAAGAAAATGCTGCT
GCTGCCCTGGTGGCTTTGGCTTGTGCCAGGGGATCATTGAAAACTTTCGTCCACACAGTCCATCTATTACAGAAACAGACGGATCTAGGG
TCCCTGCCTGTAGCTGATGTGCTATATAGGCTGTTGCTTTTGGAAGGGGGGCCTGGATCTCCCTCCTGTTTGCTTGGGGGCAAACACATA
GTATCATGGGGTTATGAAGACATGTTGCCTGCGCCGGATAGCAACACTGGCTCCAGTTCTGAAAATAAAGATGCTGACTTGGGACGCTGT
CTCACGGCAGATGGTCTTTACCTGTATACTACTAACTCAGTTGGAAGAGGAGTAAGCAAATTGGGATCTGGATTACATGGTACTCTCAGA
GGTTTTGTGTACTGCCGGAACGAGGAGTTGGAACCAGGATGGGTGGCTTTTGGCAGCGGCAGTCTTCTCCACCGGCCTGTCTCTTTCGAT
AATAAACCTCACTCCCTTTTCCAGGTCATTGACCAGAACACCCTTCAGGTGTGCCAGGTGGTGCCAATGCCAGCCAATCACCTCCCCATT
GGCAGCACCATGAGCACTGTGCACCTGTCTTCAGATGGCACTTACTTCTATTGGATCTGGTCTCCTGCCAGCCTGAATGAGAAAACACCG
AAGGGACATTCTGTCTTCATGGACATTTTTGAACTTGTGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGATTCAGGGAAG
CTCTACACCTTGGTCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGGCATCATTTCCTGGTGGTCAACATG
AAGGGCAATGACATCAGCAGTGGCACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGCACAGGCCTCCACCGCTATGTCTGG
CTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGACCACCGTGGCAAATTCAAGGTGGCG
TCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAG
CAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGCCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATA
ATAGATTTCTCCTCTTCCTGCCCCCCTTGGCATGGGTGAGACCTGACCAGTCAGATGGTAGTTGAGGGTGACTTTTCCTGCTGCCTGGCC
TTTATAATTTTACTCACTCACTCTGATTTATGTTTTGATCAAATTTGAACTTCATTTTGGGGGGTATTTTGGTACTGTGATGGGGTCATC
AAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGCAAAGCAT
CAAAGAATCTTTAAGGGAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTGGTTGCCTCTGCCTTTGTGATCCTGAGTCCAGAATGGTACAC
AATGTGATTTTATGGTGATGTCACTCACCTAGACAACCAGAGGCTGGCATTGAGGCTAACCTCCAACACAGTGCATCTCAGATGCCTCAG
TAGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAGGGTGGCTTTGCTGTTGTTGGGACATGGCA
ATCTAGACCGGTAGCAGCGCTCGCTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGTTCTTCATGGGGGTAAGAA


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FusionGenePPI for HECTD4_PEBP1


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
HECTD4GRIA3, LGALS3BP, UNC119, VAMP4, TRIM25PEBP1STC2, RAF1, MAP2K1, MAPK1, TRAF6, AKT1, PRDX1, IGBP1, PTGR1, HNF1A, ADRBK1, IQCB1, NKX3-1, BAG3, GSDMB, MOV10, NXF1, ABCE1, ASNS, C11orf54, GNPDA2, HSPE1, LGALS3, CFL1, LDHAL6A, PABPC3, SOD1, SOD2, SPR, UCHL3, YKT6, PGLS, PPIA, PRDX5, RFK, SLC25A32, STIP1, SCLT1, ALOX15, STYX


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 HECTD4_PEBP1


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 HECTD4_PEBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHECTD4C1956346Coronary Artery Disease1CTD_human
TgenePEBP1C0007134Renal Cell Carcinoma1CTD_human
TgenePEBP1C0018801Heart failure1CTD_human
TgenePEBP1C0024667Animal Mammary Neoplasms1CTD_human
TgenePEBP1C0024668Mammary Neoplasms, Experimental1CTD_human
TgenePEBP1C0032927Precancerous Conditions1CTD_human
TgenePEBP1C0151744Myocardial Ischemia1CTD_human