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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: 12378

FusionGeneSummary for EZR_NBAS

check button Fusion gene summary
Fusion gene informationFusion gene name: EZR_NBAS
Fusion gene ID: 12378
HgeneTgene
Gene symbol

EZR

NBAS

Gene ID

7430

51594

Gene nameezrinneuroblastoma amplified sequence
SynonymsCVIL|CVL|HEL-S-105|VIL2ILFS2|NAG|SOPH
Cytomap

6q25.3

2p24.3

Type of geneprotein-codingprotein-coding
Descriptionezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin)neuroblastoma-amplified sequenceNAG/BC035112 fusionNAG/FAM49A fusionneuroblastoma-amplified gene protein
Modification date2018052320180519
UniProtAcc

P15311

A2RRP1

Ensembl transtripts involved in fusion geneENST00000337147, ENST00000367075, 
ENST00000392177, ENST00000476189, 
ENST00000441750, ENST00000281513, 
Fusion gene scores* DoF score14 X 13 X 5=9108 X 9 X 3=216
# samples 179
** MAII scorelog2(17/910*10)=-2.42033179894836
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EZR [Title/Abstract] AND NBAS [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
HgeneEZR

GO:0048015

phosphatidylinositol-mediated signaling

25591774

HgeneEZR

GO:0051017

actin filament bundle assembly

10793131


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
ChiTaRS3.1BE812183EZRchr6

159190368

-NBASchr2

15511301

-
ChiTaRS3.1BE812261EZRchr6

159190368

-NBASchr2

15511301

-
* 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
intron-intronENST00000337147ENST00000441750EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000337147ENST00000281513EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000367075ENST00000441750EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000367075ENST00000281513EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000392177ENST00000441750EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000392177ENST00000281513EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000476189ENST00000441750EZRchr6

159190368

-NBASchr2

15511301

-
intron-intronENST00000476189ENST00000281513EZRchr6

159190368

-NBASchr2

15511301

-

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FusionProtFeatures for EZR_NBAS


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

P15311

NBAS

A2RRP1

Probably involved in connections of major cytoskeletalstructures to the plasma membrane. In epithelial cells, requiredfor the formation of microvilli and membrane ruffles on the apicalpole. Along with PLEKHG6, required for normal macropinocytosis.{ECO:0000269|PubMed:17881735, ECO:0000269|PubMed:18270268,ECO:0000269|PubMed:19111582}. Involved in Golgi-to-endoplasmic reticulum (ER)retrograde transport; the function is proposed to depend on itsassociation in the NRZ complex which is believed to play a role inSNARE assembly at the ER (PubMed:19369418).{ECO:0000269|PubMed:19369418, ECO:0000305}.

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 EZR_NBAS


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 EZR_NBAS


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 EZR_NBAS


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 EZR_NBAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEZRC0033578Prostatic Neoplasms3CTD_human
HgeneEZRC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneEZRC0024667Animal Mammary Neoplasms1CTD_human
HgeneEZRC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneEZRC0027627Neoplasm Metastasis1CTD_human
HgeneEZRC0029408Degenerative polyarthritis1CTD_human
TgeneNBASC0038356Stomach Neoplasms1CTD_human
TgeneNBASC3541319SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY1ORPHANET;UNIPROT
TgeneNBASC3809651INFANTILE LIVER FAILURE SYNDROME 21ORPHANET;UNIPROT