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Fusion gene ID: 16116 |
FusionGeneSummary for HERC6_CABP4 |
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Fusion gene information | Fusion gene name: HERC6_CABP4 | Fusion gene ID: 16116 | Hgene | Tgene | Gene symbol | HERC6 | CABP4 | Gene ID | 55008 | 57010 |
Gene name | HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 | calcium binding protein 4 | |
Synonyms | - | CRSD|CSNB2B | |
Cytomap | 4q22.1 | 11q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | probable E3 ubiquitin-protein ligase HERC6HECT domain and RCC1-like domain-containing protein 6HECT-type E3 ubiquitin transferase HERC6hect domain and RLD 6potential ubiquitin ligase | calcium-binding protein 4 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q8IVU3 | P57796 | |
Ensembl transtripts involved in fusion gene | ENST00000273960, ENST00000380265, ENST00000264346, | ENST00000438189, ENST00000542025, ENST00000325656, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | CESC | TCGA-DS-A3LQ-01A | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000273960 | ENST00000438189 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
5CDS-intron | ENST00000273960 | ENST00000542025 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
5CDS-intron | ENST00000273960 | ENST00000325656 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
Frame-shift | ENST00000380265 | ENST00000438189 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
5CDS-intron | ENST00000380265 | ENST00000542025 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
5CDS-intron | ENST00000380265 | ENST00000325656 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
Frame-shift | ENST00000264346 | ENST00000438189 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
5CDS-intron | ENST00000264346 | ENST00000542025 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
5CDS-intron | ENST00000264346 | ENST00000325656 | HERC6 | chr4 | 89312031 | + | CABP4 | chr11 | 67225842 | + |
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FusionProtFeatures for HERC6_CABP4 |
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Hgene | Tgene |
HERC6 | CABP4 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for HERC6_CABP4 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
HERC6 | HERC3, HERC4, UBQLN2, NME2, HSP90AA1, FUS, HERC6, UBE2L3, UBE2L6 | CABP4 | CACNA1F |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HERC6_CABP4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HERC6_CABP4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HERC6 | C0021400 | Influenza | 1 | CTD_human |
Tgene | CABP4 | C4041558 | Cone-rod synaptic disorder, congenital nonprogressive | 1 | CTD_human;UNIPROT |