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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: 17607

FusionGeneSummary for INTS8_EZR

check button Fusion gene summary
Fusion gene informationFusion gene name: INTS8_EZR
Fusion gene ID: 17607
HgeneTgene
Gene symbol

INTS8

EZR

Gene ID

55656

7430

Gene nameintegrator complex subunit 8ezrin
SynonymsC8orf52|INT8CVIL|CVL|HEL-S-105|VIL2
Cytomap

8q22.1

6q25.3

Type of geneprotein-codingprotein-coding
Descriptionintegrator complex subunit 8protein kaonashi-1ezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin)
Modification date2018052220180523
UniProtAcc

Q75QN2

P15311

Ensembl transtripts involved in fusion geneENST00000523731, ENST00000447247, 
ENST00000520845, 
ENST00000337147, 
ENST00000367075, ENST00000392177, 
ENST00000476189, 
Fusion gene scores* DoF score4 X 4 X 3=4814 X 15 X 4=840
# samples 519
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(19/840*10)=-2.14438990933517
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: INTS8 [Title/Abstract] AND EZR [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
HgeneINTS8

GO:0016180

snRNA processing

16239144

TgeneEZR

GO:0048015

phosphatidylinositol-mediated signaling

25591774

TgeneEZR

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
ChiTaRS3.1BF370449INTS8chr8

95877186

+EZRchr6

159194456

+
* 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-intronENST00000523731ENST00000337147INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000523731ENST00000367075INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000523731ENST00000392177INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000523731ENST00000476189INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000447247ENST00000337147INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000447247ENST00000367075INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000447247ENST00000392177INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000447247ENST00000476189INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000520845ENST00000337147INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000520845ENST00000367075INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000520845ENST00000392177INTS8chr8

95877186

+EZRchr6

159194456

+
intron-intronENST00000520845ENST00000476189INTS8chr8

95877186

+EZRchr6

159194456

+

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FusionProtFeatures for INTS8_EZR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
INTS8

Q75QN2

EZR

P15311

Component of the Integrator complex, a complex involvedin the small nuclear RNAs (snRNA) U1 and U2 transcription and intheir 3'-box-dependent processing. The Integrator complex isassociated with the C-terminal domain (CTD) of RNA polymerase IIlargest subunit (POLR2A) and is recruited to the U1 and U2 snRNAsgenes. 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}.

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 INTS8_EZR


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 INTS8_EZR


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 INTS8_EZR


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 INTS8_EZR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEZRC0033578Prostatic Neoplasms3CTD_human
TgeneEZRC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneEZRC0024667Animal Mammary Neoplasms1CTD_human
TgeneEZRC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneEZRC0027627Neoplasm Metastasis1CTD_human
TgeneEZRC0029408Degenerative polyarthritis1CTD_human