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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: 16114

FusionGeneSummary for HERC4_PBLD

check button Fusion gene summary
Fusion gene informationFusion gene name: HERC4_PBLD
Fusion gene ID: 16114
HgeneTgene
Gene symbol

HERC4

PBLD

Gene ID

26091

64081

Gene nameHECT and RLD domain containing E3 ubiquitin protein ligase 4phenazine biosynthesis like protein domain containing
Synonyms-HEL-S-306|MAWBP|MAWDBP
Cytomap

10q21.3

10q21.3

Type of geneprotein-codingprotein-coding
Descriptionprobable E3 ubiquitin-protein ligase HERC4HECT domain and RCC1-like domain-containing protein 4HECT-type E3 ubiquitin transferase HERC4hect domain and RLD 4phenazine biosynthesis-like domain-containing proteinMAWD-binding proteinepididymis secretory protein Li 306
Modification date2018052220180519
UniProtAcc

Q5GLZ8

P30039

Ensembl transtripts involved in fusion geneENST00000277817, ENST00000412272, 
ENST00000395198, ENST00000373700, 
ENST00000395187, ENST00000480158, 
ENST00000492996, 
ENST00000336578, 
ENST00000358769, ENST00000309049, 
ENST00000432941, ENST00000495025, 
Fusion gene scores* DoF score5 X 6 X 4=1202 X 2 X 2=8
# samples 62
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: HERC4 [Title/Abstract] AND PBLD [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
TCGARVSTADTCGA-D7-A4YY-01AHERC4chr10

69832640

-PBLDchr10

70056742

-
* 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-5UTRENST00000277817ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000277817ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000277817ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000277817ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000277817ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000412272ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000412272ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000412272ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000412272ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000412272ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395198ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395198ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395198ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395198ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395198ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000373700ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000373700ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000373700ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000373700ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000373700ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395187ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395187ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395187ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395187ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000395187ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000480158ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000480158ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000480158ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000480158ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
intron-5UTRENST00000480158ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000492996ENST00000336578HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000492996ENST00000358769HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000492996ENST00000309049HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000492996ENST00000432941HERC4chr10

69832640

-PBLDchr10

70056742

-
5CDS-5UTRENST00000492996ENST00000495025HERC4chr10

69832640

-PBLDchr10

70056742

-

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FusionProtFeatures for HERC4_PBLD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HERC4

Q5GLZ8

PBLD

P30039

Probable E3 ubiquitin-protein ligase involved in eitherprotein trafficking or in the distribution of cellular structures.Required for spermatozoon maturation and fertility, and for theremoval of the cytoplasmic droplet of the spermatozoon. E3ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfer it to targeted substrates.{ECO:0000250|UniProtKB:Q6PAV2}.

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 HERC4_PBLD


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 HERC4_PBLD


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
HERC4HERC6, HERC4, UBC, UBE2D2, UBE2E3, UBE2J2, HSP90AA1, C9orf78, DCTPP1, FKBP9, H2AFV, HEXA, NT5C2, PCNA, USP5, WARS, NUBP2, RAD23A, SHMT2, MOV10, NXF1, LSM6, NTRK1, RB1, DNAJC7, BAG3, GMNN, NUF2, UBE2L3, C1orf94, FAM189B, FDXACB1, MOCS3, APOBEC3D, WRAP73, KLHL10, NLRX1, ALOXE3, TRIM25PBLDSTRAP, TRIP13, BAG3, TCF4, PBLD, EFHC2, LNX1, CCDC184, ZRANB1, TRMT61A, MATN3, PLEKHS1


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 HERC4_PBLD


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 HERC4_PBLD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePBLDC0032927Precancerous Conditions1CTD_human