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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: 16043

FusionGeneSummary for HECTD4_BTBD11

check button Fusion gene summary
Fusion gene informationFusion gene name: HECTD4_BTBD11
Fusion gene ID: 16043
HgeneTgene
Gene symbol

HECTD4

BTBD11

Gene ID

283450

121551

Gene nameHECT domain E3 ubiquitin protein ligase 4BTB domain containing 11
SynonymsC12ord51|C12orf51|HEEL|POTAGEABTB2B
Cytomap

12q24.13

12q23.3

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 C12orf51traankyrin repeat and BTB/POZ domain-containing protein BTBD11ANK-repeat BTB domain containing proteinBTB (POZ) domain containing 11BTB/POZ domain-containing protein 11
Modification date2018052220180523
UniProtAcc

Q9Y4D8

A6QL63

Ensembl transtripts involved in fusion geneENST00000377560, ENST00000430131, 
ENST00000550722, ENST00000549141, 
ENST00000280758, ENST00000420571, 
ENST00000490090, ENST00000357167, 
ENST00000494235, 
Fusion gene scores* DoF score15 X 9 X 9=12154 X 3 X 1=12
# samples 143
** MAII scorelog2(14/1215*10)=-3.11745758154818
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HECTD4 [Title/Abstract] AND BTBD11 [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
TCGALDSARCTCGA-DX-A3U5-01AHECTD4chr12

112819756

-BTBD11chr12

107914264

+
* 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
5UTR-3CDSENST00000377560ENST00000280758HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000377560ENST00000420571HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000377560ENST00000490090HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-intronENST00000377560ENST00000357167HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-intronENST00000377560ENST00000494235HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000430131ENST00000280758HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000430131ENST00000420571HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000430131ENST00000490090HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-intronENST00000430131ENST00000357167HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-intronENST00000430131ENST00000494235HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000550722ENST00000280758HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000550722ENST00000420571HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-3CDSENST00000550722ENST00000490090HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-intronENST00000550722ENST00000357167HECTD4chr12

112819756

-BTBD11chr12

107914264

+
5UTR-intronENST00000550722ENST00000494235HECTD4chr12

112819756

-BTBD11chr12

107914264

+
intron-3CDSENST00000549141ENST00000280758HECTD4chr12

112819756

-BTBD11chr12

107914264

+
intron-3CDSENST00000549141ENST00000420571HECTD4chr12

112819756

-BTBD11chr12

107914264

+
intron-3CDSENST00000549141ENST00000490090HECTD4chr12

112819756

-BTBD11chr12

107914264

+
intron-intronENST00000549141ENST00000357167HECTD4chr12

112819756

-BTBD11chr12

107914264

+
intron-intronENST00000549141ENST00000494235HECTD4chr12

112819756

-BTBD11chr12

107914264

+

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FusionProtFeatures for HECTD4_BTBD11


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

Q9Y4D8

BTBD11

A6QL63


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_BTBD11


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 HECTD4_BTBD11


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, TRIM25BTBD11CEP83


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_BTBD11


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_BTBD11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHECTD4C1956346Coronary Artery Disease1CTD_human
TgeneBTBD11C0023903Liver neoplasms1CTD_human