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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:INTS8-ESRP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: INTS8-ESRP1
FusionPDB ID: 39987
FusionGDB2.0 ID: 39987
HgeneTgene
Gene symbol

INTS8

ESRP1

Gene ID

55656

54845

Gene nameintegrator complex subunit 8epithelial splicing regulatory protein 1
SynonymsC8orf52|INT8|NEDCHSDFNB109|RBM35A|RMB35A
Cytomap

8q22.1

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionintegrator complex subunit 8protein kaonashi-1epithelial splicing regulatory protein 1RNA-binding motif protein 35ARNA-binding protein 35A
Modification date2020031320200313
UniProtAcc

Q75QN2

Q6NXG1

Ensembl transtripts involved in fusion geneENST idsENST00000447247, ENST00000523731, 
ENST00000520845, 
ENST00000358397, 
ENST00000433389, ENST00000454170, 
ENST00000523347, ENST00000423620, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 7 X 3=16814 X 16 X 7=1568
# samples 815
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/1568*10)=-3.38589115361933
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: INTS8 [Title/Abstract] AND ESRP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ESRP1(95718262)-INTS8(95862169), # samples:2
INTS8(95841254)-ESRP1(95718153), # samples:2
Anticipated loss of major functional domain due to fusion event.INTS8-ESRP1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
INTS8-ESRP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
INTS8-ESRP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
INTS8-ESRP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
INTS8-ESRP1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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

TgeneESRP1

GO:0043484

regulation of RNA splicing

19285943


check buttonFusion gene breakpoints across INTS8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ESRP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SKCMTCGA-EE-A181-06AINTS8chr8

95841254

+ESRP1chr8

95704905

+
ChimerDB4SKCMTCGA-EE-A181-06AINTS8chr8

95841254

+ESRP1chr8

95709080

+
ChimerDB4SKCMTCGA-EE-A181-06AINTS8chr8

95841254

-ESRP1chr8

95718153

+
ChimerDB4SKCMTCGA-EE-A181-06AINTS8chr8

95841254

+ESRP1chr8

95718153

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000523731INTS8chr895841254+ENST00000423620ESRP1chr895718153+224570388723211
ENST00000447247INTS8chr895841254+ENST00000423620ESRP1chr895718153+223869681716211

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000523731ENST00000423620INTS8chr895841254+ESRP1chr895718153+0.0014466670.99855334
ENST00000447247ENST00000423620INTS8chr895841254+ESRP1chr895718153+0.0019020270.99809796

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>39987_39987_1_INTS8-ESRP1_INTS8_chr8_95841254_ENST00000447247_ESRP1_chr8_95718153_ENST00000423620_length(amino acids)=211AA_BP=
MEPGSGPGGSGGGGRMSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDN
KRNRILKLLALKVAAHLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAK

--------------------------------------------------------------

>39987_39987_2_INTS8-ESRP1_INTS8_chr8_95841254_ENST00000523731_ESRP1_chr8_95718153_ENST00000423620_length(amino acids)=211AA_BP=
MEPGSGPGGSGGGGRMSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDN
KRNRILKLLALKVAAHLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAK

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:95718262/chr8:95862169)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q75QN2

ESRP1

Q6NXG1

FUNCTION: Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. {ECO:0000269|PubMed:28542170}.FUNCTION: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity). {ECO:0000250|UniProtKB:Q3US41, ECO:0000269|PubMed:19285943}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526250_288190.0979.0RepeatNote=TPR 1
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526320_356190.0979.0RepeatNote=TPR 2
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526570_603190.0979.0RepeatNote=TPR 3
HgeneINTS8chr8:95841254chr8:95718153ENST00000447247+526833_866190.0979.0RepeatNote=TPR 4
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527250_288190.0996.0RepeatNote=TPR 1
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527320_356190.0996.0RepeatNote=TPR 2
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527570_603190.0996.0RepeatNote=TPR 3
HgeneINTS8chr8:95841254chr8:95718153ENST00000523731+527833_866190.0996.0RepeatNote=TPR 4
TgeneESRP1chr8:95841254chr8:95718153ENST000003583971416225_302689.66666666666661099.6666666666667DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST000003583971416326_406689.66666666666661099.6666666666667DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST000003583971416445_525689.66666666666661099.6666666666667DomainRRM 3
TgeneESRP1chr8:95841254chr8:95718153ENST000004236201315225_302653.0660.0DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST000004236201315326_406653.0660.0DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST000004236201315445_525653.0660.0DomainRRM 3
TgeneESRP1chr8:95841254chr8:95718153ENST000004333891416225_302693.66666666666661074.3333333333333DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST000004333891416326_406693.66666666666661074.3333333333333DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST000004333891416445_525693.66666666666661074.3333333333333DomainRRM 3
TgeneESRP1chr8:95841254chr8:95718153ENST000004541701214225_302606.6666666666666609.0DomainRRM 1
TgeneESRP1chr8:95841254chr8:95718153ENST000004541701214326_406606.6666666666666609.0DomainRRM 2
TgeneESRP1chr8:95841254chr8:95718153ENST000004541701214445_525606.6666666666666609.0DomainRRM 3


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
ESRP1ATXN1, RNF2, BMI1, RNF111, RGPD8, RGPD5, RBPMS, RGPD3, RBPMS2, ATXN2, THUMPD3, ZNF703, HELZ, ELAVL2, GPATCH8, BIRC6, ESR2, MED25, KLHDC7B, OXER1, DAZAP2, KRTAP19-5, ARID5A, PRR20B, PRR20A, PRR20D, PRR20C, PRR20E, ESR1, MIRLET7A1, MIRLET7A2, MIRLET7A3, MIRLET7B, MIRLET7C, MIRLET7D, MIRLET7F2, MIRLET7G, MIRLET7I, MIR98, MIR7-1, MIR9-1, MIR15B, MIR19B1, MIR19B2, MIR20B, MIR21, MIR25, MIR29C, MIR34A, MIR34B, MIR106A, MIR106B, MIR128-2, MIR138-1, MIR138-2, MIR141, MIR155, MIR200A, MIR200C, MIR222, MIR363, H1F0, CIT, KIF14, KIF20A, PRC1, PAK6, RANBP2, MRPS24, ZC3H10, ALG13, Rbm38, Rbm47,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
INTS8
ESRP1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to INTS8-ESRP1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to INTS8-ESRP1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneESRP1C4693935DEAFNESS, AUTOSOMAL RECESSIVE 1091GENOMICS_ENGLAND;UNIPROT