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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: 16116

FusionGeneSummary for HERC6_CABP4

check button Fusion gene summary
Fusion gene informationFusion gene name: HERC6_CABP4
Fusion gene ID: 16116
HgeneTgene
Gene symbol

HERC6

CABP4

Gene ID

55008

57010

Gene nameHECT and RLD domain containing E3 ubiquitin protein ligase family member 6calcium binding protein 4
Synonyms-CRSD|CSNB2B
Cytomap

4q22.1

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionprobable E3 ubiquitin-protein ligase HERC6HECT domain and RCC1-like domain-containing protein 6HECT-type E3 ubiquitin transferase HERC6hect domain and RLD 6potential ubiquitin ligasecalcium-binding protein 4
Modification date2018052220180519
UniProtAcc

Q8IVU3

P57796

Ensembl transtripts involved in fusion geneENST00000273960, ENST00000380265, 
ENST00000264346, 
ENST00000438189, 
ENST00000542025, ENST00000325656, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: HERC6 [Title/Abstract] AND CABP4 [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
TCGARVCESCTCGA-DS-A3LQ-01AHERC6chr4

89312031

+CABP4chr11

67225842

+
* 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-shiftENST00000273960ENST00000438189HERC6chr4

89312031

+CABP4chr11

67225842

+
5CDS-intronENST00000273960ENST00000542025HERC6chr4

89312031

+CABP4chr11

67225842

+
5CDS-intronENST00000273960ENST00000325656HERC6chr4

89312031

+CABP4chr11

67225842

+
Frame-shiftENST00000380265ENST00000438189HERC6chr4

89312031

+CABP4chr11

67225842

+
5CDS-intronENST00000380265ENST00000542025HERC6chr4

89312031

+CABP4chr11

67225842

+
5CDS-intronENST00000380265ENST00000325656HERC6chr4

89312031

+CABP4chr11

67225842

+
Frame-shiftENST00000264346ENST00000438189HERC6chr4

89312031

+CABP4chr11

67225842

+
5CDS-intronENST00000264346ENST00000542025HERC6chr4

89312031

+CABP4chr11

67225842

+
5CDS-intronENST00000264346ENST00000325656HERC6chr4

89312031

+CABP4chr11

67225842

+

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FusionProtFeatures for HERC6_CABP4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HERC6

Q8IVU3

CABP4

P57796

Involved in normal synaptic function through regulationof Ca(2+) influx and neurotransmitter release in photoreceptorsynaptic terminals and in auditory transmission. Modulator ofCACNA1D and CACNA1F, suppressing the calcium-dependentinactivation and shifting the activation range to morehyperpolarized voltages (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 HERC6_CABP4


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 HERC6_CABP4


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
HERC6HERC3, HERC4, UBQLN2, NME2, HSP90AA1, FUS, HERC6, UBE2L3, UBE2L6CABP4CACNA1F


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 HERC6_CABP4


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 HERC6_CABP4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHERC6C0021400Influenza1CTD_human
TgeneCABP4C4041558Cone-rod synaptic disorder, congenital nonprogressive1CTD_human;UNIPROT