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Fusion gene ID: 12003 |
FusionGeneSummary for ERGIC3_H2AFZ |
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Fusion gene information | Fusion gene name: ERGIC3_H2AFZ | Fusion gene ID: 12003 | Hgene | Tgene | Gene symbol | ERGIC3 | H2AFZ | Gene ID | 51614 | 3015 |
Gene name | ERGIC and golgi 3 | H2A histone family member Z | |
Synonyms | C20orf47|C2orf47|CGI-54|Erv46|NY-BR-84|PRO0989|SDBCAG84|dJ477O4.2 | H2A.Z-1|H2A.z|H2A/z|H2AZ | |
Cytomap | 20q11.22 | 4q23 | |
Type of gene | protein-coding | protein-coding | |
Description | endoplasmic reticulum-Golgi intermediate compartment protein 3endoplasmic reticulum-localized protein ERp43serologically defined breast cancer antigen 84serologically defined breast cancer antigen NY-BR-84 | histone H2A.ZH2AZ histone | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9Y282 | P0C0S5 | |
Ensembl transtripts involved in fusion gene | ENST00000348547, ENST00000357394, ENST00000279052, ENST00000447986, ENST00000482338, | ENST00000296417, ENST00000529158, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 2 X 2=8 |
# samples | 6 | 2 | |
** MAII score | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: ERGIC3 [Title/Abstract] AND H2AFZ [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 |
ChiTaRS3.1 | BF987576 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
* 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 | ENST00000348547 | ENST00000296417 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
5CDS-5UTR | ENST00000348547 | ENST00000529158 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
Frame-shift | ENST00000357394 | ENST00000296417 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
5CDS-5UTR | ENST00000357394 | ENST00000529158 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
In-frame | ENST00000279052 | ENST00000296417 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
5CDS-5UTR | ENST00000279052 | ENST00000529158 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
In-frame | ENST00000447986 | ENST00000296417 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
5CDS-5UTR | ENST00000447986 | ENST00000529158 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
intron-3CDS | ENST00000482338 | ENST00000296417 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
intron-5UTR | ENST00000482338 | ENST00000529158 | ERGIC3 | chr20 | 34145243 | + | H2AFZ | chr4 | 100870457 | - |
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FusionProtFeatures for ERGIC3_H2AFZ |
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Hgene | Tgene |
ERGIC3 | H2AFZ |
Possible role in transport between endoplasmic reticulumand Golgi. {ECO:0000250}. | Variant histone H2A which replaces conventional H2A in asubset of nucleosomes. Nucleosomes wrap and compact DNA intochromatin, limiting DNA accessibility to the cellular machinerieswhich require DNA as a template. Histones thereby play a centralrole in transcription regulation, DNA repair, DNA replication andchromosomal stability. DNA accessibility is regulated via acomplex set of post-translational modifications of histones, alsocalled histone code, and nucleosome remodeling. May be involved inthe formation of constitutive heterochromatin. May be required forchromosome segregation during cell division.{ECO:0000269|PubMed:15878876}. |
![]() * 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 ERGIC3_H2AFZ |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_ERGIC3_ENST00000279052_chr20_34145243_+_H2AFZ_ENST00000296417_chr4_100870457_-_0aa >In-frame_ERGIC3_ENST00000447986_chr20_34145243_+_H2AFZ_ENST00000296417_chr4_100870457_-_0aa |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ERGIC3_ENST00000279052_chr20_34145243_+_H2AFZ_ENST00000296417_chr4_100870457_-_0nt >In-frame_ERGIC3_ENST00000447986_chr20_34145243_+_H2AFZ_ENST00000296417_chr4_100870457_-_0nt |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ERGIC3_ENST00000279052_chr20_34145243_+_H2AFZ_ENST00000296417_chr4_100870457_-_0nt >In-frame_ERGIC3_ENST00000447986_chr20_34145243_+_H2AFZ_ENST00000296417_chr4_100870457_-_0nt |
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FusionGenePPI for ERGIC3_H2AFZ |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 ERGIC3_H2AFZ |
![]() (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 ERGIC3_H2AFZ |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |