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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: 12003

FusionGeneSummary for ERGIC3_H2AFZ

check button Fusion gene summary
Fusion gene informationFusion gene name: ERGIC3_H2AFZ
Fusion gene ID: 12003
HgeneTgene
Gene symbol

ERGIC3

H2AFZ

Gene ID

51614

3015

Gene nameERGIC and golgi 3H2A histone family member Z
SynonymsC20orf47|C2orf47|CGI-54|Erv46|NY-BR-84|PRO0989|SDBCAG84|dJ477O4.2H2A.Z-1|H2A.z|H2A/z|H2AZ
Cytomap

20q11.22

4q23

Type of geneprotein-codingprotein-coding
Descriptionendoplasmic reticulum-Golgi intermediate compartment protein 3endoplasmic reticulum-localized protein ERp43serologically defined breast cancer antigen 84serologically defined breast cancer antigen NY-BR-84histone H2A.ZH2AZ histone
Modification date2018052320180523
UniProtAcc

Q9Y282

P0C0S5

Ensembl transtripts involved in fusion geneENST00000348547, ENST00000357394, 
ENST00000279052, ENST00000447986, 
ENST00000482338, 
ENST00000296417, 
ENST00000529158, 
Fusion gene scores* DoF score4 X 4 X 3=482 X 2 X 2=8
# samples 62
** MAII scorelog2(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)

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
ChiTaRS3.1BF987576ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
* 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-shiftENST00000348547ENST00000296417ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
5CDS-5UTRENST00000348547ENST00000529158ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
Frame-shiftENST00000357394ENST00000296417ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
5CDS-5UTRENST00000357394ENST00000529158ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
In-frameENST00000279052ENST00000296417ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
5CDS-5UTRENST00000279052ENST00000529158ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
In-frameENST00000447986ENST00000296417ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
5CDS-5UTRENST00000447986ENST00000529158ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
intron-3CDSENST00000482338ENST00000296417ERGIC3chr20

34145243

+H2AFZchr4

100870457

-
intron-5UTRENST00000482338ENST00000529158ERGIC3chr20

34145243

+H2AFZchr4

100870457

-

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FusionProtFeatures for ERGIC3_H2AFZ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERGIC3

Q9Y282

H2AFZ

P0C0S5

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}.

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 ERGIC3_H2AFZ


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.
>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


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


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 ERGIC3_H2AFZ


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 ERGIC3_H2AFZ


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